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Gene: TCF4 (transcription factor 4) Homo sapiens

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Symbol:

TCF4

Name:

transcription factor 4

RGD ID:

732921

HGNC Page

HGNC:11634

Description:

Enables several functions, including RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; beta-catenin binding activity; and identical protein binding activity. Involved in positive regulation of DNA-templated transcription. Located in chromatin and nucleus. Part of beta-catenin-TCF7L2 complex. Implicated in Fuchs' endothelial dystrophy; Lynch syndrome; and Pitt-Hopkins syndrome.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

bHLHb19; CDG2T; class B basic helix-loop-helix protein 19; E2-2; FCD2; FECD3; immunoglobulin transcription factor 2; ITF-2; ITF2; MGC149723; MGC149724; PTHS; SEF-2; SEF2; SEF2-1; SEF2-1A; SEF2-1B; SEF2-1D; SL3-3 enhancer factor 2; TCF-4; transcription factor 4, isoform B+; transcription factor 4, isoform B-; transcription factor 4, isoform C; transcription factor 4, isoform D; transcription factor 4, isoform E; transcription factor 4, isoform L; transcription factor 4, isoform M; transcription factor 4, isoform R

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Tcf4 (transcription factor 4)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Tcf4 (transcription factor 4)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Tcf4 (transcription factor 4)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	TCF4 (transcription factor 4)	NCBI	Ortholog
Canis lupus familiaris (dog):	TCF4 (transcription factor 4)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Tcf4 (transcription factor 4)	NCBI	Ortholog
Sus scrofa (pig):	TCF4 (transcription factor 4)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	TCF4 (transcription factor 4)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Tcf4 (transcription factor 4)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Tcf12 (transcription factor 12)	HGNC	OrthoMCL
Rattus norvegicus (Norway rat):	Kiaa1755 (KIAA1755 ortholog)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Tcf4 (transcription factor 4)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Tcf4 (transcription factor 4)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Tcf4 (transcription factor 4)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	tcf4 (transcription factor 4)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|OMA\|OrthoFinder\|PhylomeDB\|ZFIN)
Danio rerio (zebrafish):	tcf4 (transcription factor 4)	Alliance	DIOPT (ZFIN)
Caenorhabditis elegans (roundworm):	hlh-2	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|OrthoInspector\|PANTHER)
Drosophila melanogaster (fruit fly):	da	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	tcf4.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	tcf4	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	tcf4	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	tcf4.L	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

NCBI Annotation Information:

Note: TCF4 (Gene ID: 6925) and TCF7L2 (Gene ID: 6934) loci share the TCF4 symbol/alias in common. TCF4 is a widely used alternative name for T-cell-specific transcription factor 4 (TCF7L2) conflicting with the official symbol for transcription factor 4 (TCF4). [08 Feb 2019]

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	18	55,222,185 - 55,635,957 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	18	55,222,185 - 55,664,787 (-)	Ensembl			hg38	GRCh38
GRCh37	18	52,889,416 - 53,303,188 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	18	51,040,560 - 51,406,858 (-)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	18	51,045,966 - 51,406,441	NCBI
Celera	18	49,606,934 - 49,973,119 (-)	NCBI		Celera
Cytogenetic Map	18	q21.2	NCBI
HuRef	18	49,599,225 - 50,013,477 (-)	NCBI		HuRef
CHM1_1	18	52,884,825 - 53,298,977 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	18	55,425,274 - 55,839,077 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autism spectrum disorder (IAGP)

Corneal Dystrophy, Fuchs Endothelial, 3 (EXP,IAGP)

Craniofacial Abnormalities (EXP)

Developmental Disabilities (IAGP)

Developmental Disease (IAGP)

epilepsy (IAGP)

esophageal atresia (IAGP)

Experimental Liver Cirrhosis (EXP)

Familial Prostate Cancer (EXP)

genetic disease (IAGP)

heart disease (EXP)

hereditary spastic paraplegia 4 (IAGP)

intellectual disability (IAGP)

Liver Neoplasms (EXP)

Lynch syndrome (IAGP)

microcephaly (EXP,IAGP)

Neurodevelopmental Disorders (EXP)

peripheral nervous system disease (EXP)

Pitt-Hopkins syndrome (EXP,IAGP,ISS)

schizophrenia (ISS)

Sialorrhea (IAGP)

stereotypic movement disorder (IAGP)

sudden infant death syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-epigallocatechin 3-gallate (EXP)

1,2-dichloroethane (ISO)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP,ISO)

17beta-hydroxy-5alpha-androstan-3-one (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,3,7,8-Tetrachlorodibenzofuran (ISO)

2-butoxyethanol (ISO)

3,4-methylenedioxymethamphetamine (ISO)

3-Nitrobenzanthrone (EXP)

4,4'-sulfonyldiphenol (EXP)

4-hydroxyphenyl retinamide (ISO)

4-tert-Octylphenol (ISO)

5-aza-2'-deoxycytidine (EXP)

acetamide (ISO)

acetylsalicylic acid (EXP)

acrolein (EXP)

actinomycin D (ISO)

aflatoxin B1 (EXP,ISO)

all-trans-retinoic acid (EXP)

alpha-pinene (EXP)

ammonium chloride (ISO)

antimycin A (EXP)

aristolochic acid A (EXP)

arsane (EXP)

arsenic atom (EXP)

arsenous acid (EXP)

atrazine (ISO)

benzo[a]pyrene (EXP,ISO)

benzo[e]pyrene (EXP)

Benzo[k]fluoranthene (ISO)

bilirubin IXalpha (EXP)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

bisphenol F (EXP)

bortezomib (EXP)

bosutinib (EXP)

Butylbenzyl phthalate (EXP)

C60 fullerene (ISO)

cadmium atom (EXP)

cadmium dichloride (ISO)

carbon nanotube (ISO)

CGP 52608 (EXP)

chloroprene (ISO)

chlorpyrifos (ISO)

chromium(6+) (EXP)

cisplatin (EXP)

cobalt dichloride (EXP,ISO)

cocaine (ISO)

copper atom (EXP,ISO)

copper(0) (EXP,ISO)

copper(II) chloride (EXP)

crocidolite asbestos (EXP)

Cuprizon (ISO)

cyclosporin A (EXP)

deguelin (EXP)

Destruxin B (EXP)

diarsenic trioxide (EXP)

dibutyl phthalate (EXP,ISO)

diethylstilbestrol (ISO)

dioxygen (ISO)

diuron (EXP)

dorsomorphin (EXP)

elesclomol (EXP)

ethanol (ISO)

ethyl methanesulfonate (EXP)

fenpyroximate (EXP)

fenthion (ISO)

flavonoids (ISO)

folic acid (ISO)

folpet (ISO)

fulvestrant (EXP)

genistein (EXP)

gentamycin (ISO)

geraniol (EXP)

glycidol (ISO)

glyphosate (ISO)

hydroquinone (EXP)

ketoconazole (ISO)

lead(0) (EXP)

lipopolysaccharide (ISO)

lithium chloride (EXP)

manganese atom (EXP)

manganese(0) (EXP)

manganese(II) chloride (EXP)

methamphetamine (ISO)

methapyrilene (EXP)

methidathion (ISO)

methoxychlor (ISO)

methyl methanesulfonate (EXP)

methylmercury chloride (EXP)

N,N-diethyl-m-toluamide (ISO)

N-tosyl-L-phenylalanyl chloromethyl ketone (EXP)

NCX-4040 (EXP)

nickel sulfate (EXP)

nitrofen (ISO)

nitroglycerin (EXP)

okadaic acid (EXP)

oxaliplatin (ISO)

ozone (EXP,ISO)

p-tert-Amylphenol (ISO)

paracetamol (ISO)

paraquat (EXP)

perfluorooctane-1-sulfonic acid (ISO)

perfluorooctanoic acid (ISO)

permethrin (ISO)

phenobarbital (EXP,ISO)

picoxystrobin (EXP)

potassium chromate (EXP)

progesterone (EXP)

pyrimidifen (EXP)

quercetin (EXP,ISO)

resveratrol (EXP,ISO)

rotenone (EXP)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

SB 431542 (EXP)

silicon dioxide (ISO)

sodium arsenate (ISO)

sodium arsenite (EXP)

succimer (ISO)

sulindac (EXP)

tamoxifen (ISO)

tebufenpyrad (EXP)

tert-butyl hydroperoxide (EXP)

testosterone enanthate (EXP)

tetrachloromethane (ISO)

thifluzamide (EXP)

topotecan (ISO)

torcetrapib (EXP)

trichostatin A (EXP)

triphenyl phosphate (EXP)

triptonide (ISO)

troglitazone (ISO)

tungsten (ISO)

tunicamycin (EXP)

undecane (ISO)

valproic acid (EXP,ISO)

venlafaxine hydrochloride (ISO)

vitamin K (ISO)

warfarin (ISO)

zinc atom (EXP)

zinc(0) (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell differentiation (IEA)

endothelial cell activation (ISO)

negative regulation of angiogenesis (ISO)

negative regulation of gene expression (ISO)

negative regulation of transcription by RNA polymerase II (ISO)

nervous system development (IEA)

positive regulation of DNA-templated transcription (IDA,IEA)

positive regulation of neuron differentiation (ISS)

positive regulation of transcription by RNA polymerase II (ISO,ISS)

protein-DNA complex assembly (ISS)

regulation of DNA-templated transcription (ISO)

regulation of transcription by RNA polymerase II (IBA)

regulation of vascular endothelial growth factor signaling pathway (ISO)

Cellular Component

beta-catenin-TCF complex (IPI)

beta-catenin-TCF7L2 complex (IDA)

chromatin (IBA,IDA,ISA)

nucleus (IDA,IEA)

transcription regulator complex (IBA,ISS)

Molecular Function

beta-catenin binding (IPI)

bHLH transcription factor binding (ISO)

chromatin binding (ISO)

DNA binding (IDA,IEA)

DNA-binding transcription activator activity, RNA polymerase II-specific (ISS)

DNA-binding transcription factor activity (IDA)

DNA-binding transcription factor activity, RNA polymerase II-specific (IBA,ISA,ISS)

double-stranded DNA binding (ISO)

E-box binding (ISS)

identical protein binding (IPI)

protein binding (IPI)

protein dimerization activity (IEA)

protein heterodimerization activity (ISS)

RNA polymerase II cis-regulatory region sequence-specific DNA binding (IBA,IDA,ISS)

RNA polymerase II transcription regulatory region sequence-specific DNA binding (ISO)

sequence-specific double-stranded DNA binding (IDA)

TFIIB-class transcription factor binding (ISS)

transcription corepressor activity (ISO)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abdominal pain (IAGP)

Abnormal biliary tract morphology (IAGP)

Abnormal corneal endothelium morphology (IAGP)

Abnormal Descemet membrane morphology (IAGP)

Abnormal eosinophil morphology (IAGP)

Abnormal helix morphology (IAGP)

Abnormal large intestine physiology (IAGP)

Abnormal palate morphology (IAGP)

Abnormal pattern of respiration (IAGP)

Absent speech (IAGP)

Acrocyanosis (IAGP)

Acute hepatic failure (IAGP)

Adenocarcinoma of the large intestine (IAGP)

Adult onset (IAGP)

Aganglionic megacolon (IAGP)

Aggressive behavior (IAGP)

Amyloidosis (IAGP)

Anteverted nares (IAGP)

Aphasia (IAGP)

Aplasia/Hypoplasia of the corpus callosum (IAGP)

Ascites (IAGP)

Astigmatism (IAGP)

Ataxia (IAGP)

Autistic behavior (IAGP)

Autoimmunity (IAGP)

Autosomal dominant inheritance (IAGP)

Broad fingertip (IAGP)

Celiac disease (IAGP)

Cerebral hypoplasia (IAGP)

Childhood onset (IAGP)

Cholangiocarcinoma (IAGP)

Cholelithiasis (IAGP)

Cholestasis (IAGP)

Chronic hepatic failure (IAGP)

Cirrhosis (IAGP)

Clinodactyly (IAGP)

Clubbing (IAGP)

Coarse facial features (IAGP)

Congestive heart failure (IAGP)

Constipation (IAGP)

Corneal guttata (IAGP)

Corneal opacity (IAGP)

Corneal stromal edema (IAGP)

Cryptorchidism (IAGP)

Cupped ear (IAGP)

Decreased circulating vitamin D concentration (IAGP)

Decreased circulating vitamin E concentration (IAGP)

Decreased circulating vitamin K concentration (IAGP)

Deep philtrum (IAGP)

Deeply set eye (IAGP)

Depression (IAGP)

Dilated superficial abdominal veins (IAGP)

Drooling (IAGP)

Echolalia (IAGP)

Edema (IAGP)

Elevated alkaline phosphatase of hepatic origin (IAGP)

Elevated circulating hepatic transaminase concentration (IAGP)

Encephalopathy (IAGP)

Epicanthus (IAGP)

Esophageal atresia (IAGP)

Esophagitis (IAGP)

Eye movement-induced pain (IAGP)

Failure of eruption of permanent teeth (IAGP)

Failure to thrive (IAGP)

Fatigue (IAGP)

Feeding difficulties (IAGP)

Feeding difficulties in infancy (IAGP)

Fetal nuchal edema (IAGP)

Fever (IAGP)

Finger clinodactyly (IAGP)

Flared nostrils (IAGP)

Frontal upsweep of hair (IAGP)

Full cheeks (IAGP)

Gait ataxia (IAGP)

Gastroesophageal reflux (IAGP)

Generalized amyotrophy (IAGP)

Global developmental delay (IAGP)

Growth delay (IAGP)

Happy demeanor (IAGP)

Hepatic fibrosis (IAGP)

Hepatitis (IAGP)

Hepatocellular carcinoma (IAGP)

Hepatomegaly (IAGP)

Hepatosplenomegaly (IAGP)

Hiatus hernia (IAGP)

Histiocytosis (IAGP)

Hodgkin lymphoma (IAGP)

Hyperconvex nail (IAGP)

Hyperventilation (IAGP)

Hypoalbuminemia (IAGP)

Hypopigmented skin patches (IAGP)

Hypoplasia of the corpus callosum (IAGP)

Hypoplastic hippocampus (IAGP)

Hypotonia (IAGP)

Incoordination (IAGP)

Intellectual disability (IAGP)

Intellectual disability, mild (IAGP)

Intellectual disability, moderate (IAGP)

Intellectual disability, progressive (IAGP)

Intellectual disability, severe (IAGP)

Intermittent hyperventilation (IAGP)

Jaundice (IAGP)

Juvenile onset (IAGP)

Microcephaly (IAGP)

Micropenis (IAGP)

Motor delay (IAGP)

Motor stereotypy (IAGP)

Mutism (IAGP)

Myopia (IAGP)

Narrow foot (IAGP)

Narrow forehead (IAGP)

Neoplasm of the gallbladder (IAGP)

Nyctalopia (IAGP)

Oculomotor apraxia (IAGP)

Open mouth (IAGP)

Osteopenia (IAGP)

Osteoporosis (IAGP)

Overhanging nasal tip (IAGP)

Overlapping toe (IAGP)

Palmar telangiectasia (IAGP)

Pancreatitis (IAGP)

Pes planus (IAGP)

Pes valgus (IAGP)

Pleural effusion (IAGP)

Polyclonal elevation of IgM (IAGP)

Portal hypertension (IAGP)

Postnatal growth retardation (IAGP)

Prolonged prothrombin time (IAGP)

Prominent fingertip pads (IAGP)

Prominent nasal bridge (IAGP)

Pruritus (IAGP)

Pyloric stenosis (IAGP)

Recurrent systemic pyogenic infections (IAGP)

Reduced circulating vitamin A concentration (IAGP)

Reduced number of corneal endothelial cells (IAGP)

Reduced visual acuity (IAGP)

Renal insufficiency (IAGP)

Sacral dimple (IAGP)

Scoliosis (IAGP)

Secondary microcephaly (IAGP)

Seizure (IAGP)

Self-injurious behavior (IAGP)

Short fifth metatarsal (IAGP)

Short fourth metatarsal (IAGP)

Short metatarsal (IAGP)

Short neck (IAGP)

Short nose (IAGP)

Short palm (IAGP)

Short philtrum (IAGP)

Single transverse palmar crease (IAGP)

Sleep abnormality (IAGP)

Sleep apnea (IAGP)

Small cerebral cortex (IAGP)

Small hand (IAGP)

Sparse medial eyebrow (IAGP)

Specific learning disability (IAGP)

Spider hemangioma (IAGP)

Splenomegaly (IAGP)

Strabismus (IAGP)

Supernumerary nipple (IAGP)

Tapered finger (IAGP)

Thick vermilion border (IAGP)

Thickened helices (IAGP)

Thyroiditis (IAGP)

Tooth malposition (IAGP)

Triangular nasal tip (IAGP)

Type I diabetes mellitus (IAGP)

Ulcerative colitis (IAGP)

Upslanted palpebral fissure (IAGP)

Uveitis (IAGP)

Ventriculomegaly (IAGP)

Visual impairment (IAGP)

Visual loss (IAGP)

Weight loss (IAGP)

Wide mouth (IAGP)

Wide nasal bridge (IAGP)

Widely spaced teeth (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Frameshift mutational target gene analysis identifies similarities and differences in constitutional mismatch repair-deficiency and Lynch syndrome.	Maletzki C, etal., Mol Carcinog. 2017 Jul;56(7):1753-1764. doi: 10.1002/mc.22632. Epub 2017 Mar 30.
3.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
4.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
6.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:1681116	PMID:2105528	PMID:2308860	PMID:8576241	PMID:8978694	PMID:8999959	PMID:9242638	PMID:9302263	PMID:9584154	PMID:9618760	PMID:9668116	PMID:9824680
PMID:10757985	PMID:10903890	PMID:11266605	PMID:11591653	PMID:11756408	PMID:11784080	PMID:11802795	PMID:12477932	PMID:12651860	PMID:12727872	PMID:14517306	PMID:14702039
PMID:15333839	PMID:15342556	PMID:15351717	PMID:15489334	PMID:15578569	PMID:15665104	PMID:15831457	PMID:16126178	PMID:16344560	PMID:16407974	PMID:16549780	PMID:17220880
PMID:17318191	PMID:17410209	PMID:17436254	PMID:17436255	PMID:17478476	PMID:17983804	PMID:18222743	PMID:18371301	PMID:18627065	PMID:18635522	PMID:18781613	PMID:18792017
PMID:18799618	PMID:18854153	PMID:19235238	PMID:19274049	PMID:19394332	PMID:19453261	PMID:19534813	PMID:19571808	PMID:19571811	PMID:19635457	PMID:19938247	PMID:20205897
PMID:20211142	PMID:20301612	PMID:20379614	PMID:20421335	PMID:20585880	PMID:20603019	PMID:20603605	PMID:20673877	PMID:20811064	PMID:20825314	PMID:21037240	PMID:21103407
PMID:21228604	PMID:21245398	PMID:21441570	PMID:21533127	PMID:21543597	PMID:21659310	PMID:21671075	PMID:21722264	PMID:21743491	PMID:21771727	PMID:21789225	PMID:21791550
PMID:21812098	PMID:21828274	PMID:21873635	PMID:21880741	PMID:21900206	PMID:21926974	PMID:21988832	PMID:22014570	PMID:22045651	PMID:22146553	PMID:22156527	PMID:22234156
PMID:22383159	PMID:22451930	PMID:22460224	PMID:22688191	PMID:22699938	PMID:22777675	PMID:22821403	PMID:22832956	PMID:22934316	PMID:22998502	PMID:23110055	PMID:23129290
PMID:23165966	PMID:23185296	PMID:23249814	PMID:23449499	PMID:23453885	PMID:23563609	PMID:23671559	PMID:23758498	PMID:23772552	PMID:23894747	PMID:23974872	PMID:24027308
PMID:24058414	PMID:24094747	PMID:24210665	PMID:24255041	PMID:24275585	PMID:24339136	PMID:24413739	PMID:24532795	PMID:24594265	PMID:24596249	PMID:24722188	PMID:24846398
PMID:24862328	PMID:25001176	PMID:25056061	PMID:25150259	PMID:25168903	PMID:25217366	PMID:25298419	PMID:25299301	PMID:25342617	PMID:25355311	PMID:25402006	PMID:25416956
PMID:25466284	PMID:25609649	PMID:25683913	PMID:25910212	PMID:25921289	PMID:26002199	PMID:26010163	PMID:26087656	PMID:26123998	PMID:26186194	PMID:26200491	PMID:26218914
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PMID:27132474	PMID:27179618	PMID:27305091	PMID:27374225	PMID:27440233	PMID:27485769	PMID:27542264	PMID:27689884	PMID:27755191	PMID:27846392	PMID:28051067	PMID:28118661
PMID:28341444	PMID:28473536	PMID:28514442	PMID:28574827	PMID:28608272	PMID:28631899	PMID:28790108	PMID:28807867	PMID:28832669	PMID:28886202	PMID:28921696	PMID:29033371
PMID:29044056	PMID:29105523	PMID:29196769	PMID:29228394	PMID:29361949	PMID:29374067	PMID:29463646	PMID:29499938	PMID:29604340	PMID:29666142	PMID:29677349	PMID:29695756
PMID:29739711	PMID:29892012	PMID:29901121	PMID:29905862	PMID:29966009	PMID:29987050	PMID:30021884	PMID:30098193	PMID:30288643	PMID:30315825	PMID:30322153	PMID:30450687
PMID:30527807	PMID:30593567	PMID:30614797	PMID:30682148	PMID:30705426	PMID:30733599	PMID:30771755	PMID:30811544	PMID:30945288	PMID:30973406	PMID:30986748	PMID:31028223
PMID:31081034	PMID:31209209	PMID:31261288	PMID:31276570	PMID:31288376	PMID:31340839	PMID:31515488	PMID:31535015	PMID:31540772	PMID:31554942	PMID:31558468	PMID:31666615
PMID:31678554	PMID:31933004	PMID:32023836	PMID:32265994	PMID:32280673	PMID:32296183	PMID:32319632	PMID:32355234	PMID:32372448	PMID:32463444	PMID:32481733	PMID:32572909
PMID:32735996	PMID:32802179	PMID:32814053	PMID:33054062	PMID:33069932	PMID:33116252	PMID:33122081	PMID:33174523	PMID:33371788	PMID:33414364	PMID:33462220	PMID:33782268
PMID:33961781	PMID:34021255	PMID:34134113	PMID:34240166	PMID:34518368	PMID:34519126	PMID:34580284	PMID:34644448	PMID:34686186	PMID:34748727	PMID:34779502	PMID:34855896
PMID:34946954	PMID:35013218	PMID:35140242	PMID:35154161	PMID:35189377	PMID:35278611	PMID:35322736	PMID:35373860	PMID:35501322	PMID:35604033	PMID:35900539	PMID:35908153
PMID:36193501	PMID:36217029	PMID:36217030	PMID:36448207	PMID:36473865	PMID:36749823	PMID:37185280	PMID:37204786	PMID:37207277	PMID:37573005	PMID:37863330	PMID:38206443
PMID:38360978	PMID:38470486	PMID:38571311	PMID:38654332	PMID:38704483	PMID:38713708	PMID:38847385	PMID:38884552	PMID:39243204	PMID:39823405

Genomics

Comparative Map Data

TCF4
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	18	55,222,185 - 55,635,957 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	18	55,222,185 - 55,664,787 (-)	Ensembl			hg38	GRCh38
GRCh37	18	52,889,416 - 53,303,188 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	18	51,040,560 - 51,406,858 (-)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	18	51,045,966 - 51,406,441	NCBI
Celera	18	49,606,934 - 49,973,119 (-)	NCBI		Celera
Cytogenetic Map	18	q21.2	NCBI
HuRef	18	49,599,225 - 50,013,477 (-)	NCBI		HuRef
CHM1_1	18	52,884,825 - 53,298,977 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	18	55,425,274 - 55,839,077 (-)	NCBI		T2T-CHM13v2.0

Tcf4
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	18	69,476,500 - 69,821,038 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	18	69,476,427 - 69,822,150 (+)	Ensembl		GRCm39 Ensembl		GRCm39
GRCm38	18	69,343,429 - 69,687,967 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	18	69,343,356 - 69,689,079 (+)	Ensembl			mm10	GRCm38
MGSCv37	18	69,504,146 - 69,847,621 (+)	NCBI	MGSCv37	MGSCv37	mm9	NCBIm37
MGSCv36	18	69,469,890 - 69,809,713 (+)	NCBI		MGSCv36	mm8
Celera	18	70,630,746 - 70,974,890 (+)	NCBI		Celera
Cytogenetic Map	18	E2	NCBI
cM Map	18	43.23	NCBI

Tcf4
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	18	65,216,840 - 65,563,186 (+)	NCBI	GRCr8	GRCr8		GRCr8
GRCr8 Ensembl	18	65,216,849 - 65,558,401 (+)	Ensembl				GRCr8
mRatBN7.2	18	62,941,739 - 63,288,126 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	18	62,943,782 - 63,284,425 (+)	Ensembl				mRatBN7.2
UTH_Rnor_SHR_Utx	18	65,021,713 - 65,360,258 (+)	NCBI	UTH_Rnor_SHR_Utx	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	18	65,713,660 - 66,051,972 (+)	NCBI	UTH_Rnor_SHRSP_BbbUtx_1.0	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	18	63,570,321 - 63,908,645 (+)	NCBI	UTH_Rnor_WKY_Bbb_1.0	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	18	65,285,320 - 65,507,983 (+)	NCBI	Rnor_6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	18	65,155,685 - 65,507,977 (+)	Ensembl			rn6	Rnor6.0
Rnor_5.0	18	64,471,373 - 64,694,036 (+)	NCBI	Rnor_5.0	Rnor_5.0	rn5
RGSC_v3.4	18	66,135,863 - 66,359,984 (+)	NCBI	RGSC_v3.4	RGSC_v3.4	rn4
Celera	18	61,145,273 - 61,368,542 (+)	NCBI		Celera
RGSC_v3.1	18	66,209,063 - 66,433,179 (+)	NCBI
Cytogenetic Map	18	q12.1	NCBI

Tcf4
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955402	39,735,600 - 40,066,151 (-)	Ensembl
ChiLan1.0	NW_004955402	39,735,596 - 40,066,151 (-)	NCBI	ChiLan1.0	ChiLan1.0

TCF4
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	17	72,749,860 - 73,162,662 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	18	58,441,348 - 58,855,275 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	18	48,603,069 - 48,969,010 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	18	51,938,357 - 52,351,679 (-)	NCBI	PanPan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	18	51,938,357 - 52,352,030 (-)	Ensembl			panPan2	panpan1.1

TCF4
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	20,060,788 - 20,417,367 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	1	20,060,788 - 20,417,348 (+)	Ensembl			canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	21,044,957 - 21,401,584 (+)	NCBI	Dog10K_Boxer_Tasha	Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	19,945,098 - 20,307,635 (+)	NCBI	ROS_Cfam_1.0	ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	19,945,046 - 20,305,954 (+)	Ensembl				ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	20,000,058 - 20,356,878 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	19,895,148 - 20,251,707 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	20,166,172 - 20,523,442 (+)	NCBI	UU_Cfam_GSD_1.0	UU_Cfam_GSD_1.0

Tcf4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404944	33,171,849 - 33,525,514 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936497	8,410,860 - 8,764,296 (+)	Ensembl		SpeTri2.0 Ensembl
SpeTri2.0	NW_004936497	8,410,882 - 8,765,678 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TCF4
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	104,719,151 - 105,079,919 (-)	Ensembl			susScr11	Sscrofa11.1
Sscrofa11.1	1	104,718,809 - 105,079,919 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	115,117,555 - 115,353,531 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TCF4
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	18	24,116,595 - 24,483,037 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	18	24,116,547 - 24,478,228 (+)	Ensembl		ChlSab1.1 Ensembl	chlSab2	Vervet-AGM
Vero_WHO_p1.0	NW_023666060	1,054,633 - 1,421,014 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Tcf4
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624792	686,774 - 1,027,397 (-)	Ensembl		HetGla_female_1.0 Ensembl	hetGla2	HetGla_female_1.0 Ensembl
HetGla 1.0	NW_004624792	686,360 - 1,030,199 (-)	NCBI	HetGla 1.0	HetGla 1.0	hetGla2

Variants

Variants in TCF4
1180 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NC_000018.10:g.(?_55228205)_(55635917_?)del	deletion	Pitt-Hopkins syndrome [RCV000544328]	Chr18:55228205..55635917 [GRCh38] Chr18:52895436..53303148 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1251C>T (p.Asp417=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000558983]	Chr18:55254596 [GRCh38] Chr18:52921827 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.790-4A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV000542214]	Chr18:55269967 [GRCh38] Chr18:52937198 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1239dup (p.Gly414fs)	duplication	not provided [RCV000519948]	Chr18:55254607..55254608 [GRCh38] Chr18:52921838..52921839 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp)	single nucleotide variant	Inborn genetic diseases [RCV001266245]\|Pitt-Hopkins syndrome [RCV000007795]\|Severe intellectual deficiency [RCV000415008]\|not provided [RCV000387138]	Chr18:55228988 [GRCh38] Chr18:52896219 [GRCh37] Chr18:18q21.2	pathogenic\|likely pathogenic
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000007796]\|not provided [RCV000189725]	Chr18:55228987 [GRCh38] Chr18:52896218 [GRCh37] Chr18:18q21.2	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000007797]\|Pitt-Hopkins syndrome [RCV001249620]\|not provided [RCV000255339]	Chr18:55254694 [GRCh38] Chr18:52921925 [GRCh37] Chr18:18q21.2	pathogenic
TCF4, IVS9AS, G-C, -1	single nucleotide variant	Pitt-Hopkins syndrome [RCV000007798]	Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1733G>C (p.Arg578Pro)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000007799]	Chr18:55228993 [GRCh38] Chr18:52896224 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.908del (p.Thr303fs)	deletion	Pitt-Hopkins syndrome [RCV000007800]	Chr18:55269845 [GRCh38] Chr18:52937076 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.470G>A (p.Arg157Gln)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001518888]	Chr18:55350903 [GRCh38] Chr18:53018134 [GRCh37] Chr18:18q21.2	benign\|uncertain significance
NM_001083962.2(TCF4):c.209A>G (p.Asn70Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000546702]	Chr18:55461114 [GRCh38] Chr18:53128345 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.145+1G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV000519390]	Chr18:55585279 [GRCh38] Chr18:53252510 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.146A>G (p.Asn49Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001450291]	Chr18:55464137 [GRCh38] Chr18:53131368 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.902A>G (p.Asn301Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003617821]\|not provided [RCV001696929]	Chr18:55269851 [GRCh38] Chr18:52937082 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.1(TCF4):c.145+4355A>G	single nucleotide variant	Lung cancer [RCV000100891]	Chr18:55580925 [GRCh38] Chr18:53248156 [GRCh37] Chr18:18q21.2	uncertain significance
GRCh38/hg38 18q21.2(chr18:54291850-55754281)x1	copy number loss	See cases [RCV000050961]	Chr18:54291850..55754281 [GRCh38] Chr18:51818220..53421512 [GRCh37] Chr18:50072218..51572510 [NCBI36] Chr18:18q21.2	pathogenic
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	copy number gain	See cases [RCV000050989]	Chr18:50068129..80252149 [GRCh38] Chr18:47594499..78010032 [GRCh37] Chr18:45848497..76111023 [NCBI36] Chr18:18q21.1-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	copy number gain	See cases [RCV000051048]	Chr18:148963..80252149 [GRCh38] Chr18:148963..78010032 [GRCh37] Chr18:138963..76111023 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	copy number gain	See cases [RCV000052543]	Chr18:20960320..80234429 [GRCh38] Chr18:18540281..77992312 [GRCh37] Chr18:16794279..76093303 [NCBI36] Chr18:18q11.1-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	copy number gain	See cases [RCV000052501]	Chr18:53345..80209986 [GRCh38] Chr18:53345..77967869 [GRCh37] Chr18:43345..76068860 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	copy number gain	See cases [RCV000052549]	Chr18:20989762..80209986 [GRCh38] Chr18:18569723..77967869 [GRCh37] Chr18:16823721..76068860 [NCBI36] Chr18:18q11.1-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3	copy number gain	See cases [RCV000052507]	Chr18:148763..80252290 [GRCh38] Chr18:148763..78010173 [GRCh37] Chr18:138763..76111164 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]\|See cases [RCV000052563]	Chr18:29249202..65448117 [GRCh38] Chr18:26829167..63115353 [GRCh37] Chr18:25083165..61266333 [NCBI36] Chr18:18q12.1-22.1	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	copy number gain	See cases [RCV000052514]	Chr18:148963..80244381 [GRCh38] Chr18:148963..78002264 [GRCh37] Chr18:138963..76103255 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q21.2(chr18:55303869-55536679)x3	copy number gain	See cases [RCV000052571]	Chr18:55303869..55536679 [GRCh38] Chr18:52971100..53203910 [GRCh37] Chr18:51122098..51354908 [NCBI36] Chr18:18q21.2	pathogenic
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]\|See cases [RCV000053869]	Chr18:53637007..80252149 [GRCh38] Chr18:51163377..78010032 [GRCh37] Chr18:49417375..76111023 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.2-21.31(chr18:54417453-57347792)x1	copy number loss	See cases [RCV000053870]	Chr18:54417453..57347792 [GRCh38] Chr18:51943823..55015023 [GRCh37] Chr18:50197821..53166021 [NCBI36] Chr18:18q21.2-21.31	pathogenic
GRCh38/hg38 18q21.2(chr18:55339930-55500526)x1	copy number loss	See cases [RCV000053871]	Chr18:55339930..55500526 [GRCh38] Chr18:53007161..53167757 [GRCh37] Chr18:51158159..51318755 [NCBI36] Chr18:18q21.2	pathogenic
GRCh38/hg38 18q21.2-21.31(chr18:55575588-57207463)x1	copy number loss	See cases [RCV000053872]	Chr18:55575588..57207463 [GRCh38] Chr18:53242819..54874694 [GRCh37] Chr18:51393817..53025692 [NCBI36] Chr18:18q21.2-21.31	pathogenic
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]\|See cases [RCV000053834]	Chr18:51605752..80252149 [GRCh38] Chr18:49132122..78010032 [GRCh37] Chr18:47386120..76111023 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.2(chr18:51875428-55658999)x1	copy number loss	See cases [RCV000053835]	Chr18:51875428..55658999 [GRCh38] Chr18:49401798..53326230 [GRCh37] Chr18:47655796..51477228 [NCBI36] Chr18:18q21.2	pathogenic
GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	copy number loss	See cases [RCV000053836]	Chr18:52156899..65408762 [GRCh38] Chr18:49683269..63075998 [GRCh37] Chr18:47937267..61226978 [NCBI36] Chr18:18q21.2-22.1	pathogenic
NM_001083962.2(TCF4):c.1169del (p.Arg389_Leu390insTer)	deletion	Pitt-Hopkins syndrome [RCV000660296]	Chr18:55254678 [GRCh38] Chr18:52921909 [GRCh37] Chr18:18q21.2	pathogenic\|likely pathogenic
NM_001083962.2(TCF4):c.1066_1067dup (p.Ala357fs)	microsatellite	Pitt-Hopkins syndrome [RCV000660295]	Chr18:55259950..55259951 [GRCh38] Chr18:52927181..52927182 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1086G>A (p.Trp362Ter)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001507025]\|not provided [RCV000494225]	Chr18:55257375 [GRCh38] Chr18:52924606 [GRCh37] Chr18:18q21.2	pathogenic\|likely pathogenic
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=)	single nucleotide variant	Inborn genetic diseases [RCV002313753]\|Pitt-Hopkins syndrome [RCV000341338]\|not provided [RCV003333955]\|not specified [RCV000173028]	Chr18:55234615 [GRCh38] Chr18:52901846 [GRCh37] Chr18:18q21.2	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters
NM_001083962.2(TCF4):c.1733G>A (p.Arg578His)	single nucleotide variant	Inborn genetic diseases [RCV002515762]\|Microcephaly [RCV001003999]\|Pitt-Hopkins syndrome [RCV000079458]\|Pitt-Hopkins syndrome [RCV003883128]\|TCF4-related disorder [RCV003398670]\|not provided [RCV000189738]	Chr18:55228993 [GRCh38] Chr18:52896224 [GRCh37] Chr18:18q21.2	pathogenic\|likely pathogenic
NM_001083962.2(TCF4):c.1923G>A (p.Glu641=)	single nucleotide variant	Inborn genetic diseases [RCV002313754]\|Pitt-Hopkins syndrome [RCV000280945]\|not provided [RCV000858710]\|not specified [RCV000150096]	Chr18:55228318 [GRCh38] Chr18:52895549 [GRCh37] Chr18:18q21.2	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters
NM_001083962.2(TCF4):c.1941A>G (p.Ser647=)	single nucleotide variant	Corneal dystrophy, Fuchs endothelial, 3 [RCV001815179]\|Inborn genetic diseases [RCV002311572]\|Pitt-Hopkins syndrome [RCV000405030]\|not provided [RCV000713808]\|not specified [RCV000079460]	Chr18:55228300 [GRCh38] Chr18:55228300..55228301 [GRCh38] Chr18:52895531 [GRCh37] Chr18:52895531..52895532 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.514_517del (p.Lys172fs)	microsatellite	Intellectual disability [RCV000224701]\|Neurodevelopmental disorder [RCV001374933]\|Pitt-Hopkins syndrome [RCV000995665]\|not provided [RCV000255366]	Chr18:55350391..55350394 [GRCh38] Chr18:53017622..53017625 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1147-17C>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV002066799]\|not specified [RCV000602833]	Chr18:55254717 [GRCh38] Chr18:52921948 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.922+1G>A	single nucleotide variant	not provided [RCV002292969]	Chr18:55269830 [GRCh38] Chr18:52937061 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1086del (p.Trp362fs)	deletion	Pitt-Hopkins syndrome [RCV001374737]	Chr18:55257375 [GRCh38] Chr18:52924606 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.208-8A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV000274074]\|not specified [RCV000186668]	Chr18:55461123 [GRCh38] Chr18:53128354 [GRCh37] Chr18:18q21.2	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters
NM_001083962.2(TCF4):c.305-14G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV000270149]\|not specified [RCV000128379]	Chr18:55403532 [GRCh38] Chr18:53070763 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.504A>G (p.Val168=)	single nucleotide variant	Inborn genetic diseases [RCV002316427]\|Pitt-Hopkins syndrome [RCV001082033]\|TCF4-related disorder [RCV003935209]\|not provided [RCV000727317]\|not specified [RCV000128380]	Chr18:55350404 [GRCh38] Chr18:53017635 [GRCh37] Chr18:18q21.2	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001083962.2(TCF4):c.936C>T (p.Ser312=)	single nucleotide variant	Inborn genetic diseases [RCV002316428]\|Pitt-Hopkins syndrome [RCV000358759]\|not provided [RCV001725997]\|not specified [RCV000128381]	Chr18:55261520 [GRCh38] Chr18:52928751 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.966T>C (p.Asp322=)	single nucleotide variant	Inborn genetic diseases [RCV002381446]\|Pitt-Hopkins syndrome [RCV000544388]\|not provided [RCV001172125]\|not specified [RCV000128382]	Chr18:55261490 [GRCh38] Chr18:52928721 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.1299G>A (p.Leu433=)	single nucleotide variant	Inborn genetic diseases [RCV002316917]\|Pitt-Hopkins syndrome [RCV000537601]\|not provided [RCV001701765]\|not specified [RCV000128383]	Chr18:55254548 [GRCh38] Chr18:52921779 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.1351-19G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV002515920]\|See cases [RCV003231159]\|not provided [RCV002292475]\|not specified [RCV000128384]	Chr18:55234702 [GRCh38] Chr18:52901933 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.1551C>T (p.Asp517=)	single nucleotide variant	Inborn genetic diseases [RCV002399506]\|Pitt-Hopkins syndrome [RCV000525641]\|not provided [RCV003221819]\|not specified [RCV000128385]	Chr18:55232607 [GRCh38] Chr18:52899838 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.1650-14C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV002055838]\|not provided [RCV003422019]\|not specified [RCV000128386]	Chr18:55229090 [GRCh38] Chr18:52896321 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.1905G>A (p.Ala635=)	single nucleotide variant	Inborn genetic diseases [RCV002312953]\|Pitt-Hopkins syndrome [RCV000338311]\|not provided [RCV000713807]\|not specified [RCV000128387]	Chr18:55228336 [GRCh38] Chr18:52895567 [GRCh37] Chr18:18q21.2	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001083962.2(TCF4):c.1995G>A (p.Ser665=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000869521]\|not specified [RCV000128389]	Chr18:55228246 [GRCh38] Chr18:52895477 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.*5-10C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV000348746]\|Pitt-Hopkins syndrome [RCV002477340]\|not provided [RCV004709340]\|not specified [RCV000128390]	Chr18:55228040 [GRCh38] Chr18:52895271 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.1(TCF4):c.22G>A (p.Ala8Thr)	single nucleotide variant	not provided [RCV000128391]	Chr18:55587095 [GRCh38] Chr18:53254326 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.73-3T>C	single nucleotide variant	Inborn genetic diseases [RCV002316918]\|Pitt-Hopkins syndrome [RCV000331537]\|not provided [RCV003422020]\|not specified [RCV000177114]	Chr18:55585355 [GRCh38] Chr18:53252586 [GRCh37] Chr18:18q21.2	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001083962.2(TCF4):c.968C>T (p.Ala323Val)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000190500]	Chr18:55261488 [GRCh38] Chr18:52928719 [GRCh37] Chr18:18q21.2	pathogenic\|likely pathogenic
NM_001083962.2(TCF4):c.1417C>T (p.Pro473Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001349104]	Chr18:55234617 [GRCh38] Chr18:52901848 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1357dup (p.Thr453fs)	duplication	not provided [RCV000153999]	Chr18:55234676..55234677 [GRCh38] Chr18:52901907..52901908 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1245T>C (p.His415=)	single nucleotide variant	Inborn genetic diseases [RCV002390426]\|Pitt-Hopkins syndrome [RCV002517681]\|TCF4-related disorder [RCV003895184]\|not provided [RCV000724844]\|not specified [RCV000174858]	Chr18:55254602 [GRCh38] Chr18:52921833 [GRCh37] Chr18:18q21.2	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001083962.2(TCF4):c.*4+30C>T	single nucleotide variant	not specified [RCV000147711]	Chr18:55228191 [GRCh38] Chr18:52895422 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1146+1G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV000147712]	Chr18:55257314 [GRCh38] Chr18:52924545 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1350G>A (p.Met450Ile)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000147713]	Chr18:55254497 [GRCh38] Chr18:52921728 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1498G>T (p.Gly500Ter)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000147715]	Chr18:55232660 [GRCh38] Chr18:52899891 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1741G>T (p.Val581Phe)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000147716]	Chr18:55228985 [GRCh38] Chr18:52896216 [GRCh37] Chr18:18q21.2	likely pathogenic\|conflicting interpretations of pathogenicity
NM_001083962.2(TCF4):c.1777_1779del (p.Arg593del)	deletion	Pitt-Hopkins syndrome [RCV000147717]	Chr18:55228947..55228949 [GRCh38] Chr18:52896178..52896180 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1840G>C (p.Ala614Pro)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000147718]	Chr18:55228886 [GRCh38] Chr18:52896117 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.223A>G (p.Thr75Ala)	single nucleotide variant	Inborn genetic diseases [RCV002316954]\|Pitt-Hopkins syndrome [RCV002515988]\|not specified [RCV000147720]	Chr18:55461100 [GRCh38] Chr18:53128331 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.305-165C>T	single nucleotide variant	Corneal dystrophy, Fuchs endothelial, 3 [RCV001815203]\|Pitt-Hopkins syndrome [RCV001815202]\|not provided [RCV000834287]\|not specified [RCV000147721]	Chr18:55403683 [GRCh38] Chr18:53070914 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.415del (p.Leu139fs)	deletion	Pitt-Hopkins syndrome [RCV000147722]	Chr18:55350958 [GRCh38] Chr18:53018189 [GRCh37] Chr18:18q21.2	pathogenic\|likely pathogenic
NM_001083962.2(TCF4):c.469C>T (p.Arg157Ter)	single nucleotide variant	Autism spectrum disorder [RCV003313939]\|Pitt-Hopkins syndrome [RCV000147723]\|not provided [RCV000484787]	Chr18:55350904 [GRCh38] Chr18:53018135 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.655+1G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV000147724]	Chr18:55279550 [GRCh38] Chr18:52946781 [GRCh37] Chr18:18q21.2	pathogenic\|likely pathogenic
NM_001083962.2(TCF4):c.656-1G>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV000147725]	Chr18:55275753 [GRCh38] Chr18:52942984 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.656-3C>T	single nucleotide variant	not specified [RCV000147726]	Chr18:55275755 [GRCh38] Chr18:52942986 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.789+23C>T	single nucleotide variant	Corneal dystrophy, Fuchs endothelial, 3 [RCV001815205]\|Pitt-Hopkins syndrome [RCV001815204]\|not provided [RCV000829619]\|not specified [RCV000147727]	Chr18:55275596 [GRCh38] Chr18:55275596..55275597 [GRCh38] Chr18:52942827 [GRCh37] Chr18:52942827..52942828 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.791del (p.Ser264fs)	deletion	Pitt-Hopkins syndrome [RCV000147728]	Chr18:55269962 [GRCh38] Chr18:52937193 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val)	single nucleotide variant	Inborn genetic diseases [RCV002316955]\|Pitt-Hopkins syndrome [RCV001084639]\|TCF4-related disorder [RCV003965112]\|not provided [RCV000422948]\|not specified [RCV000147729]	Chr18:55261512 [GRCh38] Chr18:52928743 [GRCh37] Chr18:18q21.2	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001083962.2(TCF4):c.990G>A (p.Ser330=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000147730]\|not provided [RCV000521305]	Chr18:55261466 [GRCh38] Chr18:52928697 [GRCh37] Chr18:18q21.2	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_001083962.2(TCF4):c.991-2A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV000147731]	Chr18:55260029 [GRCh38] Chr18:52927260 [GRCh37] Chr18:18q21.2	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	copy number gain	See cases [RCV000134110]	Chr18:149089..80234391 [GRCh38] Chr18:149089..77992274 [GRCh37] Chr18:139089..76093265 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q21.2(chr18:55092114-55294739)x1	copy number loss	See cases [RCV000134921]	Chr18:55092114..55294739 [GRCh38] Chr18:52759345..52961970 [GRCh37] Chr18:50910343..51112968 [NCBI36] Chr18:18q21.2	pathogenic
GRCh38/hg38 18q21.2(chr18:54747628-55294739)x3	copy number gain	See cases [RCV000135632]	Chr18:54747628..55294739 [GRCh38] Chr18:52414859..52961970 [GRCh37] Chr18:50565857..51112968 [NCBI36] Chr18:18q21.2	uncertain significance
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	copy number loss	See cases [RCV000135413]	Chr18:51190429..80252149 [GRCh38] Chr18:48716799..78010032 [GRCh37] Chr18:46970797..76111023 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.2-21.32(chr18:54857756-60590631)x1	copy number loss	See cases [RCV000136501]	Chr18:54857756..60590631 [GRCh38] Chr18:52524987..58257864 [GRCh37] Chr18:50675985..56408844 [NCBI36] Chr18:18q21.2-21.32	pathogenic
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	copy number gain	See cases [RCV000136910]	Chr18:38794728..65632804 [GRCh38] Chr18:36374692..63300040 [GRCh37] Chr18:34628690..61451020 [NCBI36] Chr18:18q12.2-22.1	pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	copy number gain	See cases [RCV000136890]	Chr18:32123105..80252149 [GRCh38] Chr18:29703068..78010032 [GRCh37] Chr18:27957066..76111023 [NCBI36] Chr18:18q12.1-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	copy number loss	See cases [RCV000136674]	Chr18:53865057..80252149 [GRCh38] Chr18:51391427..78010032 [GRCh37] Chr18:49645425..76111023 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	copy number gain	See cases [RCV000137342]	Chr18:49199411..80254946 [GRCh38] Chr18:46725781..78012829 [GRCh37] Chr18:44979779..76113817 [NCBI36] Chr18:18q21.1-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	copy number loss	See cases [RCV000137375]	Chr18:55179364..80254946 [GRCh38] Chr18:52846595..78012829 [GRCh37] Chr18:50997593..76113817 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.2(chr18:54468297-55949009)x1	copy number loss	See cases [RCV000137301]	Chr18:54468297..55949009 [GRCh38] Chr18:51994667..53616240 [GRCh37] Chr18:50248665..51767238 [NCBI36] Chr18:18q21.2	pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	copy number gain	See cases [RCV000138034]	Chr18:42651392..80254946 [GRCh38] Chr18:40231357..78012829 [GRCh37] Chr18:38485355..76113817 [NCBI36] Chr18:18q12.3-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	copy number gain	See cases [RCV000138656]	Chr18:118760..80254946 [GRCh38] Chr18:118760..78012829 [GRCh37] Chr18:108760..76113817 [NCBI36] Chr18:18p11.32-q23	pathogenic\|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	copy number gain	See cases [RCV000139397]	Chr18:149089..80254936 [GRCh38] Chr18:149089..78012819 [GRCh37] Chr18:139089..76113807 [NCBI36] Chr18:18p11.32-q23	pathogenic
NM_001083962.2(TCF4):c.*1A>G	single nucleotide variant	not provided [RCV000175407]	Chr18:55228224 [GRCh38] Chr18:52895455 [GRCh37] Chr18:18q21.2	uncertain significance
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	copy number loss	See cases [RCV000139134]	Chr18:52421052..80254946 [GRCh38] Chr18:49947422..78012829 [GRCh37] Chr18:48201420..76113817 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	copy number gain	See cases [RCV000139496]	Chr18:53959828..80254936 [GRCh38] Chr18:51486198..78012819 [GRCh37] Chr18:49740196..76113807 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	copy number loss	See cases [RCV000140925]	Chr18:51167159..80256240 [GRCh38] Chr18:48693529..78014123 [GRCh37] Chr18:46947527..76115097 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	copy number gain	See cases [RCV000142244]	Chr18:136227..80256240 [GRCh38] Chr18:136227..78014123 [GRCh37] Chr18:126227..76115097 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	copy number gain	See cases [RCV000142227]	Chr18:40367455..80256240 [GRCh38] Chr18:37947419..78014123 [GRCh37] Chr18:36201417..76115097 [NCBI36] Chr18:18q12.3-23	pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	copy number gain	See cases [RCV000143057]	Chr18:20962119..74691446 [GRCh38] Chr18:18542080..72403402 [GRCh37] Chr18:16796078..70532390 [NCBI36] Chr18:18q11.1-22.3	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	copy number gain	See cases [RCV000143218]	Chr18:136226..80256240 [GRCh38] Chr18:136226..78014123 [GRCh37] Chr18:126226..76115097 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	copy number gain	See cases [RCV000148072]	Chr18:148963..80252149 [GRCh38] Chr18:148963..78010032 [GRCh37] Chr18:138963..76111023 [NCBI36] Chr18:18p11.32-q23	pathogenic
NM_001083962.2(TCF4):c.748C>T (p.Gln250Ter)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001283846]\|not provided [RCV000154000]	Chr18:55275660 [GRCh38] Chr18:52942891 [GRCh37] Chr18:18q21.2	pathogenic\|likely pathogenic
NM_001083962.2(TCF4):c.1414del (p.Val472fs)	deletion	not provided [RCV000153998]	Chr18:55234620 [GRCh38] Chr18:52901851 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.655+1G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV000767348]\|not provided [RCV000154001]	Chr18:55279550 [GRCh38] Chr18:52946781 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.341G>A (p.Arg114Lys)	single nucleotide variant	Inborn genetic diseases [RCV002312686]\|Pitt-Hopkins syndrome [RCV001087507]\|TCF4-related disorder [RCV004739481]\|not provided [RCV000154002]	Chr18:55403482 [GRCh38] Chr18:53070713 [GRCh37] Chr18:18q21.2	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001083962.2(TCF4):c.269A>G (p.Asn90Ser)	single nucleotide variant	Inborn genetic diseases [RCV002316975]\|Pitt-Hopkins syndrome [RCV000332791]\|not provided [RCV003884365]\|not specified [RCV000154003]	Chr18:55461054 [GRCh38] Chr18:53128285 [GRCh37] Chr18:18q21.2	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001083962.2(TCF4):c.1438C>T (p.Gln480Ter)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000157067]	Chr18:55234596 [GRCh38] Chr18:52901827 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.726G>A (p.Leu242=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002054282]\|not specified [RCV000192642]	Chr18:55275682 [GRCh38] Chr18:52942913 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.420G>A (p.Ser140=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001437135]\|not specified [RCV000193197]	Chr18:55350953 [GRCh38] Chr18:53018184 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NG_011716.2:g.54765TGC[51_?]	microsatellite	Corneal dystrophy, Fuchs endothelial, 3 [RCV000186552]	Chr18:18q21.2	pathogenic\|likely pathogenic
NM_001083962.2(TCF4):c.1354G>A (p.Gly452Arg)	single nucleotide variant	Inborn genetic diseases [RCV004965318]\|Pitt-Hopkins syndrome [RCV000396501]\|not provided [RCV000725215]\|not specified [RCV000194093]	Chr18:55234680 [GRCh38] Chr18:52901911 [GRCh37] Chr18:18q21.2	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001083962.2(TCF4):c.*22G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV000296119]\|not specified [RCV000128391]	Chr18:55228013 [GRCh38] Chr18:52895244 [GRCh37] Chr18:18q21.2	benign\|likely benign
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	copy number gain	See cases [RCV000240130]	Chr18:163323..78005236 [GRCh37] Chr18:18p11.32-q23	pathogenic
NM_001083962.2(TCF4):c.978delinsGG (p.Ala327fs)	indel	Pitt-Hopkins syndrome [RCV000194458]	Chr18:55261478 [GRCh38] Chr18:52928709 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.655+1_655+2dup	duplication	Pitt-Hopkins syndrome [RCV000194246]	Chr18:55279548..55279549 [GRCh38] Chr18:52946779..52946780 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1069+1G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV000191133]	Chr18:55259948 [GRCh38] Chr18:52927179 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1965dup (p.Gly656fs)	duplication	Pitt-Hopkins syndrome [RCV000192539]	Chr18:55228275..55228276 [GRCh38] Chr18:52895506..52895507 [GRCh37] Chr18:18q21.2	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_001083962.2(TCF4):c.1871A>C (p.Gln624Pro)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000193169]	Chr18:55228855 [GRCh38] Chr18:52896086 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1411C>T (p.Gln471Ter)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000195129]	Chr18:55234623 [GRCh38] Chr18:52901854 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.-37C>T	single nucleotide variant	not specified [RCV000189709]	Chr18:55588054 [GRCh38] Chr18:53255285 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.-29G>A	single nucleotide variant	not specified [RCV000189710]	Chr18:55588046 [GRCh38] Chr18:53255277 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.370-14T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV002054238]\|not specified [RCV000189711]	Chr18:55351017 [GRCh38] Chr18:53018248 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.1929G>C (p.Glu643Asp)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005089963]\|not provided [RCV001705056]	Chr18:55228312 [GRCh38] Chr18:52895543 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.305G>A (p.Ser102Asn)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000560032]\|not provided [RCV000189717]	Chr18:55403518 [GRCh38] Chr18:53070749 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.389A>G (p.Asp130Gly)	single nucleotide variant	not provided [RCV000189718]	Chr18:55350984 [GRCh38] Chr18:53018215 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.410G>A (p.Gly137Glu)	single nucleotide variant	not provided [RCV000189719]	Chr18:55350963 [GRCh38] Chr18:53018194 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.413C>G (p.Thr138Ser)	single nucleotide variant	Inborn genetic diseases [RCV002314769]\|Pitt-Hopkins syndrome [RCV002517021]\|not specified [RCV000189720]	Chr18:55350960 [GRCh38] Chr18:53018191 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.508A>G (p.Thr170Ala)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002514072]\|not provided [RCV000189721]	Chr18:55350400 [GRCh38] Chr18:53017631 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1570C>T (p.Gln524Ter)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000645474]\|not provided [RCV000189722]	Chr18:55232588 [GRCh38] Chr18:52899819 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1586C>T (p.Ser529Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005089964]\|not provided [RCV000189723]	Chr18:55232572 [GRCh38] Chr18:52899803 [GRCh37] Chr18:18q21.2	benign\|uncertain significance
NM_001083962.1(TCF4):c.1634C>G (p.Thr545Ser)	single nucleotide variant	not provided [RCV000189724]	Chr18:55232524 [GRCh38] Chr18:52899755 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.*5-1G>A	single nucleotide variant	not provided [RCV000189726]	Chr18:55228031 [GRCh38] Chr18:52895262 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.1(TCF4):c.2012T>C (p.Met671Thr)	single nucleotide variant	not specified [RCV000189727]	Chr18:55228229 [GRCh38] Chr18:52895460 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.124A>G (p.Ser42Gly)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001336173]\|not provided [RCV000189728]	Chr18:55585301 [GRCh38] Chr18:53252532 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.516_517dup (p.Val173fs)	duplication	not provided [RCV000189729]	Chr18:55350390..55350391 [GRCh38] Chr18:53017621..53017622 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.680_682delinsT (p.Trp227fs)	indel	not provided [RCV000189730]	Chr18:55275726..55275728 [GRCh38] Chr18:52942957..52942959 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.733TCT[1] (p.Ser246del)	microsatellite	not specified [RCV000189731]	Chr18:55275670..55275672 [GRCh38] Chr18:52942901..52942903 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.1505_1518del (p.Gln502fs)	deletion	not provided [RCV000189732]	Chr18:55232640..55232653 [GRCh38] Chr18:52899871..52899884 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1966_1969dup (p.Pro657fs)	microsatellite	not provided [RCV000189733]	Chr18:55228271..55228272 [GRCh38] Chr18:52895502..52895503 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.2010_2011del (p.Gln670fs)	deletion	Pitt-Hopkins syndrome [RCV001507033]\|not provided [RCV000189734]	Chr18:55228230..55228231 [GRCh38] Chr18:52895461..52895462 [GRCh37] Chr18:18q21.2	pathogenic\|likely pathogenic
NM_001083962.2(TCF4):c.1721A>G (p.Asn574Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV004784153]\|TCF4-related disorder [RCV003393002]	Chr18:55229005 [GRCh38] Chr18:52896236 [GRCh37] Chr18:18q21.2	pathogenic\|likely pathogenic
NM_001083962.2(TCF4):c.790-6C>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV000552708]	Chr18:55269969 [GRCh38] Chr18:52937200 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1704G>A (p.Glu568=)	single nucleotide variant	Inborn genetic diseases [RCV002311286]\|Pitt-Hopkins syndrome [RCV000863834]\|not provided [RCV005425789]\|not specified [RCV000189713]	Chr18:55229022 [GRCh38] Chr18:52896253 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.1990G>A (p.Ala664Thr)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001312621]\|not specified [RCV000189715]	Chr18:55228251 [GRCh38] Chr18:52895482 [GRCh37] Chr18:18q21.2	benign\|likely benign\|uncertain significance
NM_001083962.1(TCF4):c.*4+2C>T	single nucleotide variant	not specified [RCV000189716]	Chr18:55228219 [GRCh38] Chr18:52895450 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.584A>G (p.Asn195Ser)	single nucleotide variant	Inborn genetic diseases [RCV005286041]\|Pitt-Hopkins syndrome [RCV001857661]\|not provided [RCV001705057]	Chr18:55279622 [GRCh38] Chr18:52946853 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.1316C>T (p.Thr439Ile)	single nucleotide variant	not specified [RCV000189736]	Chr18:55254531 [GRCh38] Chr18:52921762 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.550-2A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV000198247]\|not provided [RCV001781584]	Chr18:55279658 [GRCh38] Chr18:52946889 [GRCh37] Chr18:18q21.2	pathogenic\|likely pathogenic
NM_001083962.2(TCF4):c.1532C>G (p.Ser511Cys)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000556133]	Chr18:55232626 [GRCh38] Chr18:52899857 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1486+2T>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV000768431]	Chr18:55234546 [GRCh38] Chr18:52901777 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.240G>A (p.Met80Ile)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001089294]\|not provided [RCV000835152]	Chr18:55461083 [GRCh38] Chr18:53128314 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.507G>A (p.Gln169=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001450118]	Chr18:55350401 [GRCh38] Chr18:53017632 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.850C>T (p.His284Tyr)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000209937]\|not provided [RCV001753630]	Chr18:55269903 [GRCh38] Chr18:52937134 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1722T>C (p.Asn574=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000554718]	Chr18:55229004 [GRCh38] Chr18:52896235 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.520C>T (p.Arg174Ter)	single nucleotide variant	Intellectual disability [RCV000224478]\|Pitt-Hopkins syndrome [RCV000795184]\|Pitt-Hopkins syndrome [RCV003224231]\|not provided [RCV000760378]	Chr18:55350388 [GRCh38] Chr18:53017619 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1487-5G>A	single nucleotide variant	Inborn genetic diseases [RCV002390593]\|Intellectual disability [RCV000224109]\|Pitt-Hopkins syndrome [RCV000298499]\|TCF4-related disorder [RCV003955294]\|not provided [RCV000422255]\|not specified [RCV000503349]	Chr18:55232676 [GRCh38] Chr18:52899907 [GRCh37] Chr18:18q21.2	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001083962.2(TCF4):c.790-9T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV000309921]\|TCF4-related disorder [RCV003947841]\|not provided [RCV000713809]\|not specified [RCV000405244]	Chr18:55269972 [GRCh38] Chr18:52937203 [GRCh37] Chr18:18q21.2	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 18q21.2(chr18:52921652-52926903)x1	copy number loss	See cases [RCV000239793]	Chr18:52921652..52926903 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1317C>T (p.Thr439=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000867187]\|not provided [RCV001719058]	Chr18:55254530 [GRCh38] Chr18:52921761 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.594G>A (p.Ser198=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001484572]\|not provided [RCV000993287]\|not specified [RCV000600117]	Chr18:55279612 [GRCh38] Chr18:52946843 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.72+8_72+11del	microsatellite	Pitt-Hopkins syndrome [RCV002525096]\|not specified [RCV000517075]	Chr18:55587034..55587037 [GRCh38] Chr18:53254265..53254268 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	copy number gain	See cases [RCV000240476]	Chr18:18548019..77954165 [GRCh37] Chr18:18q11.1-23	pathogenic
NM_001083962.2(TCF4):c.-125C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV000282136]\|not provided [RCV004717139]	Chr18:55588142 [GRCh38] Chr18:53255373 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.*5240T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV000300986]	Chr18:55222795 [GRCh38] Chr18:52890026 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.*3982del	deletion	Pitt-Hopkins syndrome [RCV000265839]	Chr18:55224053 [GRCh38] Chr18:52891284 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.*1761del	deletion	Pitt-Hopkins syndrome [RCV000288677]	Chr18:55226274 [GRCh38] Chr18:52893505 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.4352_4353del	deletion	Pitt-Hopkins syndrome [RCV000273208]	Chr18:55223682..55223683 [GRCh38] Chr18:52890913..52890914 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.*2010dup	duplication	Pitt-Hopkins syndrome [RCV000259881]	Chr18:55226024..55226025 [GRCh38] Chr18:52893255..52893256 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.*5106T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV000261417]\|not provided [RCV004709857]	Chr18:55222929 [GRCh38] Chr18:52890160 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.*4214GTTTTT[3]	microsatellite	Pitt-Hopkins syndrome [RCV000298320]\|not provided [RCV003422295]	Chr18:55223798..55223803 [GRCh38] Chr18:52891029..52891034 [GRCh37] Chr18:18q21.2	benign\|uncertain significance
NM_001083962.2(TCF4):c.3868_3870del	deletion	Pitt-Hopkins syndrome [RCV000269142]	Chr18:55224165..55224167 [GRCh38] Chr18:52891396..52891398 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.816C>T (p.Asp272=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000271157]\|not provided [RCV001706522]	Chr18:55269937 [GRCh38] Chr18:52937168 [GRCh37] Chr18:18q21.2	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001083962.2(TCF4):c.5189_5192del	deletion	Pitt-Hopkins syndrome [RCV000356264]	Chr18:55222843..55222846 [GRCh38] Chr18:52890074..52890077 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.785_786dup	duplication	Pitt-Hopkins syndrome [RCV000261228]	Chr18:55227248..55227249 [GRCh38] Chr18:52894479..52894480 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.*1903G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV000321394]\|not provided [RCV004709859]	Chr18:55226132 [GRCh38] Chr18:52893363 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.*562C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV000322085]	Chr18:55227473 [GRCh38] Chr18:52894704 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.2702_2704del	deletion	Pitt-Hopkins syndrome [RCV000310029]	Chr18:55225331..55225333 [GRCh38] Chr18:52892562..52892564 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1471C>T (p.Gln491Ter)	single nucleotide variant	not provided [RCV000279608]	Chr18:55234563 [GRCh38] Chr18:52901794 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.*1100T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV000368123]	Chr18:55226935 [GRCh38] Chr18:52894166 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.*2506G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV000275179]	Chr18:55225529 [GRCh38] Chr18:52892760 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*3397dup	duplication	Pitt-Hopkins syndrome [RCV000280858]	Chr18:55224637..55224638 [GRCh38] Chr18:52891868..52891869 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*5553dup	duplication	Pitt-Hopkins syndrome [RCV000282991]	Chr18:55222481..55222482 [GRCh38] Chr18:52889712..52889713 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.*2660A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV000396601]	Chr18:55225375 [GRCh38] Chr18:52892606 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.*3491C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV000277435]	Chr18:55224544 [GRCh38] Chr18:52891775 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.*3870del	deletion	Pitt-Hopkins syndrome [RCV000366190]	Chr18:55224165 [GRCh38] Chr18:52891396 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*2553C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV000367470]	Chr18:55225482 [GRCh38] Chr18:52892713 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.4324_4325dup	duplication	Pitt-Hopkins syndrome [RCV000292282]	Chr18:55223709..55223710 [GRCh38] Chr18:52890940..52890941 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*4325dup	duplication	Pitt-Hopkins syndrome [RCV000295663]	Chr18:55223709..55223710 [GRCh38] Chr18:52890940..52890941 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*3269T>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV000371518]	Chr18:55224766 [GRCh38] Chr18:52891997 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.*909G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV000397294]	Chr18:55227126 [GRCh38] Chr18:52894357 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.*4061dup	duplication	Pitt-Hopkins syndrome [RCV000305820]	Chr18:55223973..55223974 [GRCh38] Chr18:52891204..52891205 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.*1576T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV000350682]	Chr18:55226459 [GRCh38] Chr18:52893690 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.655G>A (p.Asp219Asn)	single nucleotide variant	not provided [RCV000330180]	Chr18:55279551 [GRCh38] Chr18:52946782 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.*3418dup	duplication	Pitt-Hopkins syndrome [RCV000329908]	Chr18:55224616..55224617 [GRCh38] Chr18:52891847..52891848 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.*1889T>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV000378092]	Chr18:55226146 [GRCh38] Chr18:52893377 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001243230.2(TCF4):c.66G>A (p.Glu22=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000403146]\|TCF4-related disorder [RCV003940302]	Chr18:55588470 [GRCh38] Chr18:53255701 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.*1763C>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV000403569]\|not provided [RCV003422297]	Chr18:55226272 [GRCh38] Chr18:52893503 [GRCh37] Chr18:18q21.2	benign\|likely benign\|uncertain significance
NM_001083962.2(TCF4):c.*1201C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV000310995]	Chr18:55226834 [GRCh38] Chr18:52894065 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.*451A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV000291677]	Chr18:55227584 [GRCh38] Chr18:52894815 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.*3404G>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV000386770]\|not provided [RCV003422296]	Chr18:55224631 [GRCh38] Chr18:52891862 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.*53C>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV000388095]\|not provided [RCV001557635]	Chr18:55227982 [GRCh38] Chr18:52895213 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.*3529T>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV000388162]	Chr18:55224506 [GRCh38] Chr18:52891737 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.4325_4326insAT	insertion	Pitt-Hopkins syndrome [RCV000380762]	Chr18:55223709..55223710 [GRCh38] Chr18:52890940..52890941 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*4088T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV000334625]\|not provided [RCV002263044]	Chr18:55223947 [GRCh38] Chr18:52891178 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.*3349C>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV000338234]	Chr18:55224686 [GRCh38] Chr18:52891917 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.4320_4321insGAA	insertion	Pitt-Hopkins syndrome [RCV000338049]	Chr18:55223714..55223715 [GRCh38] Chr18:52890945..52890946 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1031del (p.Asn344fs)	deletion	not provided [RCV000374260]	Chr18:55259987 [GRCh38] Chr18:52927218 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.*1339dup	duplication	Pitt-Hopkins syndrome [RCV000397291]	Chr18:55226695..55226696 [GRCh38] Chr18:52893926..52893927 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.*549G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV000383685]\|not provided [RCV002263045]	Chr18:55227486 [GRCh38] Chr18:52894717 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.*2857C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV000340249]	Chr18:55225178 [GRCh38] Chr18:52892409 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.*3058C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV000341236]	Chr18:55224977 [GRCh38] Chr18:52892208 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.4319_4320insGA	insertion	Pitt-Hopkins syndrome [RCV000394708]	Chr18:55223715..55223716 [GRCh38] Chr18:52890946..52890947 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.*5019T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV000297976]	Chr18:55223016 [GRCh38] Chr18:52890247 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.*5299A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV000397336]\|not provided [RCV004709856]	Chr18:55222736 [GRCh38] Chr18:52889967 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.*4549C>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV000362018]	Chr18:55223486 [GRCh38] Chr18:52890717 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.*4325A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV000386655]	Chr18:55223710 [GRCh38] Chr18:52890941 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*726T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV000264725]	Chr18:55227309 [GRCh38] Chr18:52894540 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*832G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV000300604]	Chr18:55227203 [GRCh38] Chr18:52894434 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.990+12T>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV000301665]	Chr18:55261454 [GRCh38] Chr18:52928685 [GRCh37] Chr18:18q21.2	conflicting interpretations of pathogenicity\|uncertain significance
NM_001083962.2(TCF4):c.*2951A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV000301740]\|not provided [RCV004709858]	Chr18:55225084 [GRCh38] Chr18:52892315 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.*5553del	deletion	Pitt-Hopkins syndrome [RCV000347298]	Chr18:55222482 [GRCh38] Chr18:52889713 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*1799G>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV000348130]	Chr18:55226236 [GRCh38] Chr18:52893467 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.*2989GTT[2]	microsatellite	Pitt-Hopkins syndrome [RCV000402557]	Chr18:55225038..55225040 [GRCh38] Chr18:52892269..52892271 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1577C>A (p.Thr526Lys)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000405270]	Chr18:55232581 [GRCh38] Chr18:52899812 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*3116C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV000279333]	Chr18:55224919 [GRCh38] Chr18:52892150 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*2001G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV000317830]	Chr18:55226034 [GRCh38] Chr18:52893265 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.687C>A (p.Ser229=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000362327]\|not specified [RCV000435766]	Chr18:55275721 [GRCh38] Chr18:52942952 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.*5503T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV000405341]	Chr18:55222532 [GRCh38] Chr18:52889763 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.*2413G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV000318605]	Chr18:55225622 [GRCh38] Chr18:52892853 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.*2688A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV000364142]	Chr18:55225347 [GRCh38] Chr18:52892578 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.212A>G (p.Tyr71Cys)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000389599]\|not provided [RCV001553198]	Chr18:55461111 [GRCh38] Chr18:53128342 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*4477A>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV000267184]	Chr18:55223558 [GRCh38] Chr18:52890789 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.*788G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV000353147]	Chr18:55227247 [GRCh38] Chr18:52894478 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1650-2A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV004796226]\|not provided [RCV000522685]	Chr18:55229078 [GRCh38] Chr18:52896309 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.*178C>T	single nucleotide variant	not provided [RCV001269647]	Chr18:55227857 [GRCh38] Chr18:52895088 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.*1827C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV000290861]	Chr18:55226208 [GRCh38] Chr18:52893439 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*5411G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV000344553]	Chr18:55222624 [GRCh38] Chr18:52889855 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*754G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV000361683]	Chr18:55227281 [GRCh38] Chr18:52894512 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.1(TCF4):c.-474T>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV000303589]	Chr18:55588491 [GRCh38] Chr18:53255722 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*2565T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV000315179]	Chr18:55225470 [GRCh38] Chr18:52892701 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.-160CGG[8]	microsatellite	Pitt-Hopkins syndrome [RCV000334978]\|not provided [RCV003422298]	Chr18:55588156..55588157 [GRCh38] Chr18:53255387..53255388 [GRCh37] Chr18:18q21.2	benign\|uncertain significance
NM_001083962.2(TCF4):c.*5319A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV000368607]	Chr18:55222716 [GRCh38] Chr18:52889947 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.4354_4357del	deletion	Pitt-Hopkins syndrome [RCV000322317]	Chr18:55223678..55223681 [GRCh38] Chr18:52890909..52890912 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.1(TCF4):c.-272G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV000286161]	Chr18:55588289 [GRCh38] Chr18:53255520 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.3981_3982del	deletion	Pitt-Hopkins syndrome [RCV000309172]	Chr18:55224053..55224054 [GRCh38] Chr18:52891284..52891285 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*786del	deletion	Pitt-Hopkins syndrome [RCV000323352]	Chr18:55227249 [GRCh38] Chr18:52894480 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*1912A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV000287350]	Chr18:55226123 [GRCh38] Chr18:52893354 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.1(TCF4):c.-248C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV000373227]	Chr18:55588265 [GRCh38] Chr18:53255496 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*356A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV000325566]	Chr18:55227679 [GRCh38] Chr18:52894910 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.-21+10G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV000374382]	Chr18:55588028 [GRCh38] Chr18:53255259 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*4338del	deletion	Pitt-Hopkins syndrome [RCV000326178]	Chr18:55223697 [GRCh38] Chr18:52890928 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*2369TCC[2]	microsatellite	Pitt-Hopkins syndrome [RCV000356941]	Chr18:55225658..55225660 [GRCh38] Chr18:52892889..52892891 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.4081_4084del	deletion	Pitt-Hopkins syndrome [RCV000394721]	Chr18:55223951..55223954 [GRCh38] Chr18:52891182..52891185 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*5418T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV000289509]	Chr18:55222617 [GRCh38] Chr18:52889848 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*3756A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV000326491]	Chr18:55224279 [GRCh38] Chr18:52891510 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*3982dup	duplication	Pitt-Hopkins syndrome [RCV000358199]	Chr18:55224052..55224053 [GRCh38] Chr18:52891283..52891284 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*4353del	deletion	Pitt-Hopkins syndrome [RCV000376988]	Chr18:55223682 [GRCh38] Chr18:52890913 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.1(TCF4):c.-362A>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV000343461]	Chr18:55588379 [GRCh38] Chr18:53255610 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*2822G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV000396605]	Chr18:55225213 [GRCh38] Chr18:52892444 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.5392_5393del	deletion	Pitt-Hopkins syndrome [RCV000397327]	Chr18:55222642..55222643 [GRCh38] Chr18:52889873..52889874 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.673del (p.Asp225fs)	deletion	Inborn genetic diseases [RCV000622476]	Chr18:55275735 [GRCh38] Chr18:52942966 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.*5383T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV000313956]	Chr18:55222652 [GRCh38] Chr18:52889883 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*1968TAT[1]	microsatellite	Pitt-Hopkins syndrome [RCV000379362]	Chr18:55226062..55226064 [GRCh38] Chr18:52893293..52893295 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter)	single nucleotide variant	Inborn genetic diseases [RCV002413657]\|Pitt-Hopkins syndrome [RCV000824831]\|not provided [RCV000578535]	Chr18:55229000 [GRCh38] Chr18:52896231 [GRCh37] Chr18:18q21.2	pathogenic\|likely pathogenic
NM_001083962.2(TCF4):c.1726del (p.Arg576fs)	deletion	Pitt-Hopkins syndrome [RCV005252993]\|not provided [RCV000599037]	Chr18:55229000 [GRCh38] Chr18:52896231 [GRCh37] Chr18:18q21.2	pathogenic\|likely pathogenic
NM_001083962.2(TCF4):c.1711del (p.Met571fs)	deletion	not provided [RCV000599183]	Chr18:55229015 [GRCh38] Chr18:52896246 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1265T>C (p.Ile422Thr)	single nucleotide variant	not provided [RCV000523950]	Chr18:55254582 [GRCh38] Chr18:52921813 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.1811_1822del (p.Pro604_Lys607del)	deletion	Inborn genetic diseases [RCV000623938]	Chr18:55228904..55228915 [GRCh38] Chr18:52896135..52896146 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.1(TCF4):c.-511G>A	single nucleotide variant	not specified [RCV000414629]	Chr18:55588528 [GRCh38] Chr18:53255759 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.500-1G>A	single nucleotide variant	Epicanthus [RCV000414838]\|Pitt-Hopkins syndrome [RCV001198319]	Chr18:55350409 [GRCh38] Chr18:53017640 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1774G>A (p.Gly592Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV004819232]\|not provided [RCV000734429]	Chr18:55228952 [GRCh38] Chr18:52896183 [GRCh37] Chr18:18q21.2	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001083962.2(TCF4):c.1719_1722dup (p.Ala575fs)	duplication	Global developmental delay [RCV000415111]\|Pitt-Hopkins syndrome [RCV000856758]	Chr18:55229003..55229004 [GRCh38] Chr18:52896234..52896235 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.242C>A (p.Thr81Asn)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000534839]	Chr18:55461081 [GRCh38] Chr18:53128312 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.706C>G (p.Pro236Ala)	single nucleotide variant	Inborn genetic diseases [RCV002365455]\|Pitt-Hopkins syndrome [RCV003507275]\|not specified [RCV000412751]	Chr18:55275702 [GRCh38] Chr18:52942933 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.1037C>G (p.Ser346Ter)	single nucleotide variant	not provided [RCV000413573]	Chr18:55259981 [GRCh38] Chr18:52927212 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.851A>G (p.His284Arg)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000540855]	Chr18:55269902 [GRCh38] Chr18:52937133 [GRCh37] Chr18:18q21.2	uncertain significance
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)x1	copy number loss	See cases [RCV000446087]	Chr18:50739715..63705988 [GRCh37] Chr18:18q21.2-22.1	pathogenic
GRCh37/hg19 18q21.2(chr18:53290008-53383013)x1	copy number loss	not specified [RCV000447341]	Chr18:53290008..53383013 [GRCh37] Chr18:18q21.2	likely pathogenic\|uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3	copy number gain	See cases [RCV000446047]	Chr18:136226..78014123 [GRCh37] Chr18:18p11.32-q23	pathogenic
NM_001083962.2(TCF4):c.807C>T (p.Ser269=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000866996]\|not provided [RCV003422409]\|not specified [RCV000431030]	Chr18:55269946 [GRCh38] Chr18:52937177 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.305-15C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV001865333]\|not specified [RCV000441294]	Chr18:55403533 [GRCh38] Chr18:53070764 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.594G>T (p.Ser198=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV004797611]\|not provided [RCV000726870]\|not specified [RCV000444889]	Chr18:55279612 [GRCh38] Chr18:52946843 [GRCh37] Chr18:18q21.2	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001083962.2(TCF4):c.576C>T (p.Ala192=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001424252]\|not provided [RCV001704355]\|not specified [RCV001821191]	Chr18:55279630 [GRCh38] Chr18:52946861 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.*5-18T>C	single nucleotide variant	not specified [RCV000420787]	Chr18:55228048 [GRCh38] Chr18:52895279 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.945C>T (p.Ala315=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000864027]\|TCF4-related disorder [RCV003922802]\|not specified [RCV000434461]	Chr18:55261511 [GRCh38] Chr18:52928742 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.1866G>A (p.Glu622=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001461197]\|not provided [RCV001718881]	Chr18:55228860 [GRCh38] Chr18:52896091 [GRCh37] Chr18:18q21.2	likely benign
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	copy number gain	See cases [RCV000445851]	Chr18:163323..78005185 [GRCh37] Chr18:18p11.32-q23	pathogenic
NM_001083962.2(TCF4):c.1773C>T (p.Leu591=)	single nucleotide variant	not specified [RCV000421125]	Chr18:55228953 [GRCh38] Chr18:52896184 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1907G>A (p.Cys636Tyr)	single nucleotide variant	not provided [RCV000435178]	Chr18:55228334 [GRCh38] Chr18:52895565 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1826T>C (p.Leu609Pro)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001507045]\|not provided [RCV000418798]	Chr18:55228900 [GRCh38] Chr18:52896131 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1587G>A (p.Ser529=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002059564]\|not specified [RCV000424916]	Chr18:55232571 [GRCh38] Chr18:52899802 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1351-17T>A	single nucleotide variant	not specified [RCV000431990]	Chr18:55234700 [GRCh38] Chr18:52901931 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.369+12T>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV002061540]\|not specified [RCV000435781]	Chr18:55403442 [GRCh38] Chr18:53070673 [GRCh37] Chr18:18q21.2	benign\|likely benign
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1	copy number loss	See cases [RCV000510720]	Chr18:50224898..78014123 [GRCh37] Chr18:18q21.2-23	likely pathogenic
NM_001083962.2(TCF4):c.726G>T (p.Leu242Phe)	single nucleotide variant	not specified [RCV000422230]	Chr18:55275682 [GRCh38] Chr18:52942913 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.207+16C>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV002061539]\|not specified [RCV000425997]	Chr18:55464060 [GRCh38] Chr18:53131291 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1879+13C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV005090873]\|not specified [RCV000436270]	Chr18:55228834 [GRCh38] Chr18:52896065 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.207+13A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV002061538]\|not specified [RCV000443640]	Chr18:55464063 [GRCh38] Chr18:53131294 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.790-19T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV002061541]\|not specified [RCV000443772]	Chr18:55269982 [GRCh38] Chr18:52937213 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.1727G>A (p.Arg576Gln)	single nucleotide variant	Inborn genetic diseases [RCV000623167]\|Pitt-Hopkins syndrome [RCV001507071]\|TCF4-related disorder [RCV003422397]\|not provided [RCV000431775]	Chr18:55228999 [GRCh38] Chr18:52896230 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1545C>T (p.Ser515=)	single nucleotide variant	Inborn genetic diseases [RCV002402129]\|Pitt-Hopkins syndrome [RCV000867355]\|TCF4-related disorder [RCV003972581]\|not provided [RCV001703504]	Chr18:55232613 [GRCh38] Chr18:52899844 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.923-17G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV002488909]\|Pitt-Hopkins syndrome [RCV002519518]\|not specified [RCV000440622]	Chr18:55261550 [GRCh38] Chr18:52928781 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.891G>A (p.Thr297=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001413890]\|TCF4-related disorder [RCV003902486]\|not provided [RCV003409587]\|not specified [RCV000437325]	Chr18:55269862 [GRCh38] Chr18:52937093 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.1848C>T (p.Ala616=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001477752]\|not specified [RCV000444488]	Chr18:55228878 [GRCh38] Chr18:52896109 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1308G>A (p.Gly436=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005090839]\|not specified [RCV000423502]	Chr18:55254539 [GRCh38] Chr18:52921770 [GRCh37] Chr18:18q21.2	likely benign
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1	copy number loss	See cases [RCV000445943]	Chr18:53100584..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
NM_001083962.2(TCF4):c.1136dup (p.Leu379fs)	duplication	Pitt-Hopkins syndrome [RCV000417112]	Chr18:55257324..55257325 [GRCh38] Chr18:52924555..52924556 [GRCh37] Chr18:18q21.2	likely pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1	copy number loss	See cases [RCV000447931]	Chr18:47656799..78014123 [GRCh37] Chr18:18q21.1-23	pathogenic
GRCh37/hg19 18q21.2(chr18:53214922-53346803)x1	copy number loss	See cases [RCV000448209]	Chr18:53214922..53346803 [GRCh37] Chr18:18q21.2	pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)x1	copy number loss	See cases [RCV000448656]	Chr18:52837852..77989426 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3	copy number gain	See cases [RCV000512081]	Chr18:33417216..78014123 [GRCh37] Chr18:18q12.2-23	pathogenic
NM_001083962.2(TCF4):c.873C>G (p.Tyr291Ter)	single nucleotide variant	not provided [RCV000481651]	Chr18:55269880 [GRCh38] Chr18:52937111 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1553del (p.Glu518fs)	deletion	not provided [RCV000482160]	Chr18:55232605 [GRCh38] Chr18:52899836 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1716del (p.Asn573fs)	deletion	not provided [RCV000485949]	Chr18:55229010 [GRCh38] Chr18:52896241 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.652C>T (p.Gln218Ter)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003507281]\|not provided [RCV000486556]	Chr18:55279554 [GRCh38] Chr18:52946785 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.990+13dup	duplication	not specified [RCV000482555]	Chr18:55261452..55261453 [GRCh38] Chr18:52928683..52928684 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1185T>C (p.Asp395=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001424709]\|not provided [RCV001653864]\|not specified [RCV000501013]	Chr18:55254662 [GRCh38] Chr18:52921893 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.330A>C (p.Ser110=)	single nucleotide variant	Inborn genetic diseases [RCV002316448]\|Pitt-Hopkins syndrome [RCV000862407]\|not provided [RCV001527903]\|not specified [RCV000503478]	Chr18:55403493 [GRCh38] Chr18:53070724 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.890C>T (p.Thr297Met)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003617819]\|not specified [RCV000503808]	Chr18:55269863 [GRCh38] Chr18:52937094 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1957_1958del (p.Ser653fs)	microsatellite	Pitt-Hopkins syndrome [RCV000496195]	Chr18:55228283..55228284 [GRCh38] Chr18:52895514..52895515 [GRCh37] Chr18:18q21.2	pathogenic
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3	copy number gain	See cases [RCV000510655]	Chr18:47454437..78014123 [GRCh37] Chr18:18q21.1-23	pathogenic
NM_001083962.2(TCF4):c.759C>G (p.Ser253Arg)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000500332]\|not provided [RCV000498335]	Chr18:55275649 [GRCh38] Chr18:52942880 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1069+1G>A	single nucleotide variant	not provided [RCV000523240]	Chr18:55259948 [GRCh38] Chr18:52927179 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1760C>T (p.Ala587Val)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000501849]	Chr18:55228966 [GRCh38] Chr18:52896197 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1834del (p.His612fs)	deletion	Pitt-Hopkins syndrome [RCV000499729]	Chr18:55228892 [GRCh38] Chr18:52896123 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.642C>T (p.Ser214=)	single nucleotide variant	not specified [RCV000500022]	Chr18:55279564 [GRCh38] Chr18:52946795 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1358C>T (p.Thr453Ile)	single nucleotide variant	not specified [RCV000500298]	Chr18:55234676 [GRCh38] Chr18:52901907 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1113G>A (p.Ser371=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000645482]\|not specified [RCV000503083]	Chr18:55257348 [GRCh38] Chr18:52924579 [GRCh37] Chr18:18q21.2	likely benign\|conflicting interpretations of pathogenicity
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3	copy number gain	See cases [RCV000511394]	Chr18:43776770..78014123 [GRCh37] Chr18:18q21.1-23	pathogenic
NM_001083962.2(TCF4):c.986_990+3del	deletion	not provided [RCV000493896]	Chr18:55261463..55261470 [GRCh38] Chr18:52928694..52928701 [GRCh37] Chr18:18q21.2	pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	copy number gain	See cases [RCV000511734]	Chr18:18521285..64495798 [GRCh37] Chr18:18q11.1-22.1	pathogenic
GRCh37/hg19 18q21.2(chr18:53280664-53428347)x1	copy number loss	See cases [RCV000511379]	Chr18:53280664..53428347 [GRCh37] Chr18:18q21.2	uncertain significance
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	copy number gain	See cases [RCV000512030]	Chr18:14869204..78014123 [GRCh37] Chr18:18p11.21-q23	pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1	copy number loss	See cases [RCV000511759]	Chr18:46177798..78014123 [GRCh37] Chr18:18q21.1-23	pathogenic
NM_001083962.2(TCF4):c.1876C>T (p.Arg626Ter)	single nucleotide variant	Inborn genetic diseases [RCV003159600]\|Pitt-Hopkins syndrome [RCV000660298]\|not provided [RCV000493014]	Chr18:55228850 [GRCh38] Chr18:52896081 [GRCh37] Chr18:18q21.2	pathogenic\|likely pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3	copy number gain	See cases [RCV000511203]	Chr18:42930373..78014123 [GRCh37] Chr18:18q12.3-23	pathogenic
NM_001083962.2(TCF4):c.280C>T (p.Pro94Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000697776]\|not provided [RCV002291691]	Chr18:55461043 [GRCh38] Chr18:53128274 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.991-6T>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV000797687]\|not provided [RCV000523429]	Chr18:55260033 [GRCh38] Chr18:52927264 [GRCh37] Chr18:18q21.2	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	copy number gain	See cases [RCV000511189]	Chr18:136227..78014123 [GRCh37] Chr18:18p11.32-q23	pathogenic
NM_001083962.2(TCF4):c.1504del (p.Gln502fs)	deletion	Pitt-Hopkins syndrome [RCV000524725]	Chr18:55232654 [GRCh38] Chr18:52899885 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.643T>G (p.Phe215Val)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000645476]	Chr18:55279563 [GRCh38] Chr18:52946794 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.201G>A (p.Pro67=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000645479]\|not provided [RCV000827338]	Chr18:55464082 [GRCh38] Chr18:53131313 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.738T>C (p.Ser246=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000527456]	Chr18:55275670 [GRCh38] Chr18:52942901 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.337G>C (p.Gly113Arg)	single nucleotide variant	Esophageal atresia [RCV000984688]\|Pitt-Hopkins syndrome [RCV000533793]	Chr18:55403486 [GRCh38] Chr18:53070717 [GRCh37] Chr18:18q21.2	pathogenic\|likely benign\|uncertain significance
NM_001083962.2(TCF4):c.1026A>G (p.Ser342=)	single nucleotide variant	not provided [RCV003312416]	Chr18:55259992 [GRCh38] Chr18:52927223 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.680G>A (p.Trp227Ter)	single nucleotide variant	Inborn genetic diseases [RCV000623798]	Chr18:55275728 [GRCh38] Chr18:52942959 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.83C>T (p.Pro28Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618069]\|not provided [RCV003327987]	Chr18:55585342 [GRCh38] Chr18:53252573 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.919_922+2delinsGTCCC	indel	Pitt-Hopkins syndrome [RCV000656529]	Chr18:55269829..55269834 [GRCh38] Chr18:52937060..52937065 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.-21+18C>T	single nucleotide variant	not specified [RCV000606821]	Chr18:55588020 [GRCh38] Chr18:53255251 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1486+2T>C	single nucleotide variant	Inborn genetic diseases [RCV000624700]	Chr18:55234546 [GRCh38] Chr18:52901777 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1304C>G (p.Ser435Ter)	single nucleotide variant	Inborn genetic diseases [RCV000624046]	Chr18:55254543 [GRCh38] Chr18:52921774 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1887T>C (p.Asn629=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001491082]\|not specified [RCV000612498]	Chr18:55228354 [GRCh38] Chr18:52895585 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1677A>G (p.Pro559=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000540358]	Chr18:55229049 [GRCh38] Chr18:52896280 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1577C>T (p.Thr526Met)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002066601]\|not provided [RCV001698457]\|not specified [RCV000615986]	Chr18:55232581 [GRCh38] Chr18:52899812 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.1557del (p.Asp520fs)	deletion	Pitt-Hopkins syndrome [RCV000541444]	Chr18:55232601 [GRCh38] Chr18:52899832 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1267_1268del (p.Gly423fs)	deletion	Inborn genetic diseases [RCV000622282]	Chr18:55254579..55254580 [GRCh38] Chr18:52921810..52921811 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.500-18A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV002065311]\|not specified [RCV000616548]	Chr18:55350426 [GRCh38] Chr18:53017657 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.-21+12C>T	single nucleotide variant	not specified [RCV000607951]	Chr18:55588026 [GRCh38] Chr18:53255257 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1650-18A>T	single nucleotide variant	not specified [RCV000613673]	Chr18:55229094 [GRCh38] Chr18:52896325 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1817_1828del (p.Thr606_Leu609del)	deletion	Pitt-Hopkins syndrome [RCV000655944]	Chr18:55228898..55228909 [GRCh38] Chr18:52896129..52896140 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1990G>T (p.Ala664Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000531683]\|Pitt-Hopkins syndrome [RCV002476174]	Chr18:55228251 [GRCh38] Chr18:52895482 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1831C>A (p.Leu611Ile)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000533303]	Chr18:55228895 [GRCh38] Chr18:52896126 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1965C>T (p.Ala655=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000645478]\|not provided [RCV001704744]	Chr18:55228276 [GRCh38] Chr18:52895507 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.655+4A>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV000534710]	Chr18:55279547 [GRCh38] Chr18:52946778 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1469C>G (p.Pro490Arg)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000535942]	Chr18:55234565 [GRCh38] Chr18:52901796 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.146-11C>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV002065348]\|not specified [RCV000607261]	Chr18:55464148 [GRCh38] Chr18:53131379 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.1486+4G>C	single nucleotide variant	Inborn genetic diseases [RCV002311960]\|Pitt-Hopkins syndrome [RCV000936285]\|not specified [RCV000603538]	Chr18:55234544 [GRCh38] Chr18:52901775 [GRCh37] Chr18:18q21.2	benign\|likely benign\|uncertain significance
NM_001083962.2(TCF4):c.-21+20G>A	single nucleotide variant	not specified [RCV000602077]	Chr18:55588018 [GRCh38] Chr18:53255249 [GRCh37] Chr18:18q21.2	likely benign
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3	copy number gain	See cases [RCV000512425]	Chr18:31879854..78014123 [GRCh37] Chr18:18q12.1-23	pathogenic
NM_001083962.2(TCF4):c.216A>C (p.Gly72=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000871169]\|TCF4-related disorder [RCV004740367]\|not specified [RCV000605663]	Chr18:55461107 [GRCh38] Chr18:53128338 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.913_920del (p.Ser305fs)	deletion	not provided [RCV000656305]	Chr18:55269833..55269840 [GRCh38] Chr18:52937064..52937071 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.922+15T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV002529410]\|not specified [RCV000600079]	Chr18:55269816 [GRCh38] Chr18:52937047 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.2000A>G (p.His667Arg)	single nucleotide variant	not provided [RCV000513060]	Chr18:55228241 [GRCh38] Chr18:52895472 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1318G>A (p.Gly440Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001522872]\|not provided [RCV000645475]	Chr18:55254529 [GRCh38] Chr18:52921760 [GRCh37] Chr18:18q21.2	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001083962.2(TCF4):c.182A>G (p.Asn61Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000645477]\|Pitt-Hopkins syndrome [RCV005027764]	Chr18:55464101 [GRCh38] Chr18:53131332 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1032C>T (p.Asn344=)	single nucleotide variant	Inborn genetic diseases [RCV002388102]\|Pitt-Hopkins syndrome [RCV001088331]\|not provided [RCV000827426]	Chr18:55259986 [GRCh38] Chr18:52927217 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.571A>G (p.Thr191Ala)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001516787]	Chr18:55279635 [GRCh38] Chr18:52946866 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.1772_1776delinsCT (p.Leu591_Gly592delinsPro)	indel	Inborn genetic diseases [RCV000622407]	Chr18:55228950..55228954 [GRCh38] Chr18:52896181..52896185 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.931G>T (p.Gly311Ter)	single nucleotide variant	Inborn genetic diseases [RCV000623010]	Chr18:55261525 [GRCh38] Chr18:52928756 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1916_1917del (p.Arg639fs)	deletion	Pitt-Hopkins syndrome [RCV001507066]\|not provided [RCV000627504]	Chr18:55228324..55228325 [GRCh38] Chr18:52895555..52895556 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1440G>C (p.Gln480His)	single nucleotide variant	not provided [RCV000658275]	Chr18:55234594 [GRCh38] Chr18:52901825 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1489A>G (p.Met497Val)	single nucleotide variant	not provided [RCV000657860]	Chr18:55232669 [GRCh38] Chr18:52899900 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1512_1513insTAGTCCAG (p.Ser505Ter)	insertion	Pitt-Hopkins syndrome [RCV000660297]	Chr18:55232645..55232646 [GRCh38] Chr18:52899876..52899877 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.785G>A (p.Arg262His)	single nucleotide variant	Corneal dystrophy, Fuchs endothelial, 3 [RCV000662185]\|Pitt-Hopkins syndrome [RCV000662184]	Chr18:55275623 [GRCh38] Chr18:52942854 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.549+1G>T	single nucleotide variant	not provided [RCV000658808]	Chr18:55350358 [GRCh38] Chr18:53017589 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.696del (p.Gly232_Met233insTer)	deletion	Pitt-Hopkins syndrome [RCV000681655]	Chr18:55275712 [GRCh38] Chr18:52942943 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1034del (p.Pro345fs)	deletion	Pitt-Hopkins syndrome [RCV000680119]	Chr18:55259984 [GRCh38] Chr18:52927215 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.937_941del (p.Gly313fs)	deletion	Pitt-Hopkins syndrome [RCV000680121]	Chr18:55261515..55261519 [GRCh38] Chr18:52928746..52928750 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.639C>T (p.Ser213=)	single nucleotide variant	Inborn genetic diseases [RCV002314372]\|Pitt-Hopkins syndrome [RCV000870232]\|not provided [RCV001597208]	Chr18:55279567 [GRCh38] Chr18:52946798 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.1292del (p.Gly431fs)	deletion	Pitt-Hopkins syndrome [RCV000680120]	Chr18:55254555 [GRCh38] Chr18:52921786 [GRCh37] Chr18:18q21.2	pathogenic
GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3	copy number gain	not provided [RCV000684057]	Chr18:35866313..55082983 [GRCh37] Chr18:18q12.2-21.31	pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1	copy number loss	not provided [RCV000684060]	Chr18:46942427..78014123 [GRCh37] Chr18:18q21.1-23	pathogenic
NM_001083962.2(TCF4):c.1619A>T (p.Asp540Val)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000678972]	Chr18:55232539 [GRCh38] Chr18:52899770 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1849G>T (p.Val617Phe)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000678346]	Chr18:55228877 [GRCh38] Chr18:52896108 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.-21+2T>A	single nucleotide variant	Corneal dystrophy, Fuchs endothelial, 3 [RCV000678340]\|not provided [RCV001766455]	Chr18:55588036 [GRCh38] Chr18:53255267 [GRCh37] Chr18:18q21.2	uncertain significance
GRCh37/hg19 18q21.2(chr18:53011022-53131802)x1	copy number loss	not provided [RCV000683976]	Chr18:53011022..53131802 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.742_743del (p.Ile248fs)	microsatellite	Pitt-Hopkins syndrome [RCV000684922]	Chr18:55275665..55275666 [GRCh38] Chr18:52942896..52942897 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1146+3A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV000685198]	Chr18:55257312 [GRCh38] Chr18:52924543 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.995A>G (p.Tyr332Cys)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000699856]\|TCF4-related disorder [RCV003983172]	Chr18:55260023 [GRCh38] Chr18:52927254 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1289T>G (p.Met430Arg)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000704202]	Chr18:55254558 [GRCh38] Chr18:52921789 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.602_610dup (p.Tyr201_Ser203dup)	duplication	Pitt-Hopkins syndrome [RCV000690939]	Chr18:55279595..55279596 [GRCh38] Chr18:52946826..52946827 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.146-3T>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV000700153]	Chr18:55464140 [GRCh38] Chr18:53131371 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1552G>T (p.Glu518Ter)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000700659]	Chr18:55232606 [GRCh38] Chr18:52899837 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.839T>C (p.Met280Thr)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000692498]\|not provided [RCV001766486]	Chr18:55269914 [GRCh38] Chr18:52937145 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.740dup (p.His247fs)	duplication	Pitt-Hopkins syndrome [RCV000689642]	Chr18:55275667..55275668 [GRCh38] Chr18:52942898..52942899 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.290A>G (p.Asn97Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000695717]	Chr18:55461033 [GRCh38] Chr18:53128264 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.1283G>T (p.Gly428Val)	single nucleotide variant	Inborn genetic diseases [RCV002315997]\|Pitt-Hopkins syndrome [RCV000696327]\|not provided [RCV001255114]	Chr18:55254564 [GRCh38] Chr18:52921795 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.1841C>T (p.Ala614Val)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000705624]\|not provided [RCV001561077]	Chr18:55228885 [GRCh38] Chr18:52896116 [GRCh37] Chr18:18q21.2	pathogenic\|likely pathogenic
NM_001083962.2(TCF4):c.1650-9G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV000700487]	Chr18:55229085 [GRCh38] Chr18:52896316 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.1527del (p.Ser510fs)	deletion	Pitt-Hopkins syndrome [RCV000696955]\|not provided [RCV004723092]	Chr18:55232631 [GRCh38] Chr18:52899862 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.469del (p.Arg157fs)	deletion	Inborn genetic diseases [RCV002318690]\|Pitt-Hopkins syndrome [RCV000990105]\|not provided [RCV000734489]	Chr18:55350904 [GRCh38] Chr18:53018135 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1683G>A (p.Gln561=)	single nucleotide variant	Inborn genetic diseases [RCV002317962]	Chr18:55229043 [GRCh38] Chr18:52896274 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1598A>G (p.Lys533Arg)	single nucleotide variant	Inborn genetic diseases [RCV002317525]\|Pitt-Hopkins syndrome [RCV001862073]	Chr18:55232560 [GRCh38] Chr18:52899791 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.649A>T (p.Met217Leu)	single nucleotide variant	Inborn genetic diseases [RCV002318309]\|Pitt-Hopkins syndrome [RCV001237542]\|not provided [RCV001759439]	Chr18:55279557 [GRCh38] Chr18:52946788 [GRCh37] Chr18:18q21.2	uncertain significance
GRCh37/hg19 18q21.2-21.33(chr18:51036415-59275480)x1	copy number loss	not provided [RCV000739822]	Chr18:51036415..59275480 [GRCh37] Chr18:18q21.2-21.33	pathogenic
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1	copy number loss	not provided [RCV000739824]	Chr18:52802515..78015180 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q21.2(chr18:53234540-53237513)x3	copy number gain	not provided [RCV000739826]	Chr18:53234540..53237513 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.207+98_207+99insCTCTCA	insertion	not provided [RCV001544778]	Chr18:55463977..55463978 [GRCh38] Chr18:53131208..53131209 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1069+122T>A	single nucleotide variant	not provided [RCV001585054]	Chr18:55259827 [GRCh38] Chr18:52927058 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.990+2T>C	single nucleotide variant	not provided [RCV001543482]	Chr18:55261464 [GRCh38] Chr18:52928695 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.207+98CA[14]	microsatellite	not provided [RCV001534870]	Chr18:55463949..55463950 [GRCh38] Chr18:53131180..53131181 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.1011T>A (p.Thr337=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002540908]	Chr18:55260007 [GRCh38] Chr18:52927238 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.8A>G (p.His3Arg)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003771680]\|not provided [RCV001547548]	Chr18:55587109 [GRCh38] Chr18:53254340 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.975dup (p.Lys326fs)	duplication	Pitt-Hopkins syndrome [RCV003314292]	Chr18:55261480..55261481 [GRCh38] Chr18:52928711..52928712 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1705C>T (p.Arg569Trp)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000760226]\|Pitt-Hopkins syndrome [RCV001855923]	Chr18:55229021 [GRCh38] Chr18:52896252 [GRCh37] Chr18:18q21.2	pathogenic\|likely pathogenic
NM_001083962.2(TCF4):c.1146+2T>C	single nucleotide variant	Hereditary spastic paraplegia 4 [RCV003314498]	Chr18:55257313 [GRCh38] Chr18:52924544 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.790-2A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV000990103]	Chr18:55269965 [GRCh38] Chr18:52937196 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.990+12T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV002073240]\|not provided [RCV001693518]	Chr18:55261454 [GRCh38] Chr18:52928685 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.922+3G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV003225973]\|not provided [RCV001570290]	Chr18:55269828 [GRCh38] Chr18:52937059 [GRCh37] Chr18:18q21.2	likely pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3	copy number gain	not provided [RCV000752245]	Chr18:12842..78015180 [GRCh37] Chr18:18p11.32-q23	pathogenic
NM_001083962.2(TCF4):c.790-6C>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV001045391]	Chr18:55269969 [GRCh38] Chr18:52937200 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3	copy number gain	not provided [RCV000752246]	Chr18:13034..78015180 [GRCh37] Chr18:18p11.32-q23	pathogenic
GRCh37/hg19 18q21.2(chr18:53269093-53321026)x1	copy number loss	See cases [RCV001007442]	Chr18:53269093..53321026 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.858T>C (p.Ser286=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001469358]	Chr18:55269895 [GRCh38] Chr18:52937126 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.465T>C (p.Asn155=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001424334]	Chr18:55350908 [GRCh38] Chr18:53018139 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.456T>C (p.Ser152=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000951182]	Chr18:55350917 [GRCh38] Chr18:53018148 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1486+6T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV002064496]\|not provided [RCV000864592]	Chr18:55234542 [GRCh38] Chr18:52901773 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.1395T>C (p.His465=)	single nucleotide variant	not provided [RCV000901762]	Chr18:55234639 [GRCh38] Chr18:52901870 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1089T>C (p.Ser363=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001476494]	Chr18:55257372 [GRCh38] Chr18:52924603 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.41A>T (p.Lys14Ile)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001471145]	Chr18:55587076 [GRCh38] Chr18:53254307 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.322T>A (p.Ser108Thr)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001061647]	Chr18:55403501 [GRCh38] Chr18:53070732 [GRCh37] Chr18:18q21.2	benign\|uncertain significance
NM_001083962.2(TCF4):c.695G>A (p.Gly232Glu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001049733]	Chr18:55275713 [GRCh38] Chr18:52942944 [GRCh37] Chr18:18q21.2	uncertain significance
GRCh37/hg19 18q21.2(chr18:53061085-53143573)x1	copy number loss	not provided [RCV001006982]	Chr18:53061085..53143573 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.795T>A (p.Tyr265Ter)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000995664]	Chr18:55269958 [GRCh38] Chr18:52937189 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1594A>G (p.Lys532Glu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001034080]	Chr18:55232564 [GRCh38] Chr18:52899795 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.369+6_369+7del	deletion	Pitt-Hopkins syndrome [RCV001048813]	Chr18:55403447..55403448 [GRCh38] Chr18:53070678..53070679 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.869A>G (p.His290Arg)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001060583]	Chr18:55269884 [GRCh38] Chr18:52937115 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.789+7C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV001057676]	Chr18:55275612 [GRCh38] Chr18:52942843 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.550-1G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV000801759]	Chr18:55279657 [GRCh38] Chr18:52946888 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1218C>T (p.Gly406=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001467961]	Chr18:55254629 [GRCh38] Chr18:52921860 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.660C>T (p.Gly220=)	single nucleotide variant	Inborn genetic diseases [RCV002363247]\|Pitt-Hopkins syndrome [RCV000868640]\|TCF4-related disorder [RCV003895289]	Chr18:55275748 [GRCh38] Chr18:52942979 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1067C>A (p.Ser356Ter)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000857224]	Chr18:55259951 [GRCh38] Chr18:52927182 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1174A>C (p.Arg392=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000940678]	Chr18:55254673 [GRCh38] Chr18:52921904 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.84T>C (p.Pro28=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001483426]	Chr18:55585341 [GRCh38] Chr18:53252572 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1383G>A (p.Leu461=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001453328]	Chr18:55234651 [GRCh38] Chr18:52901882 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1194T>C (p.His398=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000868556]	Chr18:55254653 [GRCh38] Chr18:52921884 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.1650-323C>A	single nucleotide variant	not provided [RCV000827594]	Chr18:55229399 [GRCh38] Chr18:52896630 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.466C>A (p.Pro156Thr)	single nucleotide variant	Inborn genetic diseases [RCV002336717]\|Pitt-Hopkins syndrome [RCV000822946]\|not provided [RCV001561690]	Chr18:55350907 [GRCh38] Chr18:53018138 [GRCh37] Chr18:18q21.2	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001083962.2(TCF4):c.278C>T (p.Pro93Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000822967]	Chr18:55461045 [GRCh38] Chr18:53128276 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*5-62A>G	single nucleotide variant	not provided [RCV000832480]	Chr18:55228092 [GRCh38] Chr18:52895323 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.146-46693C>T	single nucleotide variant	not provided [RCV000834284]	Chr18:55510830 [GRCh38] Chr18:53178061 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.146-46406C>G	single nucleotide variant	not provided [RCV000834285]	Chr18:55510543 [GRCh38] Chr18:53177774 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.1710G>C (p.Arg570Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000824850]	Chr18:55229016 [GRCh38] Chr18:52896247 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.146-46372T>A	single nucleotide variant	not provided [RCV000834286]	Chr18:55510509 [GRCh38] Chr18:53177740 [GRCh37] Chr18:18q21.2	benign
NM_001243230.2(TCF4):c.13A>G (p.Lys5Glu)	single nucleotide variant	not provided [RCV000993285]	Chr18:55588523 [GRCh38] Chr18:53255754 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1419G>T (p.Pro473=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001489963]\|not provided [RCV000993286]	Chr18:55234615 [GRCh38] Chr18:52901846 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.760T>C (p.Tyr254His)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000807995]	Chr18:55275648 [GRCh38] Chr18:52942879 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.790-192C>G	single nucleotide variant	not provided [RCV000836452]	Chr18:55270155 [GRCh38] Chr18:52937386 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.990+179_990+182dup	duplication	not provided [RCV000836453]	Chr18:55261283..55261284 [GRCh38] Chr18:52928514..52928515 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.923-224C>T	single nucleotide variant	not provided [RCV000836478]	Chr18:55261757 [GRCh38] Chr18:52928988 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.500-88G>A	single nucleotide variant	not provided [RCV000829982]	Chr18:55350496 [GRCh38] Chr18:53017727 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1351-84_1351-81dup	duplication	not provided [RCV000829983]	Chr18:55234763..55234764 [GRCh38] Chr18:52901994..52901995 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1879+78T>C	single nucleotide variant	not provided [RCV000829985]	Chr18:55228769 [GRCh38] Chr18:52896000 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.369+243C>T	single nucleotide variant	not provided [RCV000838537]	Chr18:55403211 [GRCh38] Chr18:53070442 [GRCh37] Chr18:18q21.2	likely benign
NC_000018.10:g.55232676C>T	single nucleotide variant	not provided [RCV000835025]	Chr18:52899907 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1880-132C>T	single nucleotide variant	not provided [RCV000836897]	Chr18:55228493 [GRCh38] Chr18:52895724 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1146+229G>C	single nucleotide variant	not provided [RCV000829864]	Chr18:55257086 [GRCh38] Chr18:52924317 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.*5-68T>A	single nucleotide variant	not provided [RCV000829986]	Chr18:55228098 [GRCh38] Chr18:52895329 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.500-232A>G	single nucleotide variant	not provided [RCV000836995]	Chr18:55350640 [GRCh38] Chr18:53017871 [GRCh37] Chr18:18q21.2	likely benign
NM_001243226.3(TCF4):c.28= (p.Pro10=)	variation	Pitt-Hopkins syndrome [RCV000990106]	Chr18:55635870 [GRCh38] Chr18:53303101 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.446A>G (p.Tyr149Cys)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000809153]\|not provided [RCV001545076]	Chr18:55350927 [GRCh38] Chr18:53018158 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.923-2A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV000813294]\|not provided [RCV004588283]	Chr18:55261535 [GRCh38] Chr18:52928766 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1879+75T>C	single nucleotide variant	not provided [RCV000829984]	Chr18:55228772 [GRCh38] Chr18:52896003 [GRCh37] Chr18:18q21.2	benign
NC_000018.10:g.55403683G>A	single nucleotide variant	not provided [RCV000834287]	Chr18:53070914 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.1989C>T (p.Asp663=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001392583]\|not provided [RCV000828257]\|not specified [RCV003987718]	Chr18:55228252 [GRCh38] Chr18:52895483 [GRCh37] Chr18:18q21.2	likely benign
NC_000018.9:g.(?_52895436)_(53303148_?)dup	duplication	Pitt-Hopkins syndrome [RCV000821280]	Chr18:55228205..55635917 [GRCh38] Chr18:52895436..53303148 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.224C>T (p.Thr75Ile)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000820885]	Chr18:55461099 [GRCh38] Chr18:53128330 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.146-46302A>G	single nucleotide variant	not provided [RCV000839565]	Chr18:55510439 [GRCh38] Chr18:53177670 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.550-190C>T	single nucleotide variant	not provided [RCV000836476]	Chr18:55279846 [GRCh38] Chr18:52947077 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.550-101G>A	single nucleotide variant	not provided [RCV000836477]	Chr18:55279757 [GRCh38] Chr18:52946988 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.1879+216G>A	single nucleotide variant	not provided [RCV000836479]	Chr18:55228631 [GRCh38] Chr18:52895862 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.1070-73G>A	single nucleotide variant	not provided [RCV000832509]	Chr18:55257464 [GRCh38] Chr18:52924695 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.699G>C (p.Met233Ile)	single nucleotide variant	not provided [RCV000996690]	Chr18:55275709 [GRCh38] Chr18:52942940 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1328C>G (p.Ser443Ter)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000818658]	Chr18:55254519 [GRCh38] Chr18:52921750 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1350+122G>A	single nucleotide variant	not provided [RCV000833535]	Chr18:55254375 [GRCh38] Chr18:52921606 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.-41G>A	single nucleotide variant	not provided [RCV000840953]	Chr18:55588058 [GRCh38] Chr18:53255289 [GRCh37] Chr18:18q21.2	likely benign
NC_000018.10:g.55275596G>A	single nucleotide variant	not provided [RCV000829619]	Chr18:52942827 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.1146+198A>G	single nucleotide variant	not provided [RCV000829863]	Chr18:55257117 [GRCh38] Chr18:52924348 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.923-43G>A	single nucleotide variant	not provided [RCV000830043]	Chr18:55261576 [GRCh38] Chr18:52928807 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1147-255_1350+179del	deletion	Pitt-Hopkins syndrome [RCV000824955]	Chr18:55254318..55254955 [GRCh38] Chr18:52921549..52922186 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1229_1232dup (p.Met411fs)	duplication	not provided [RCV001091650]	Chr18:55254614..55254615 [GRCh38] Chr18:52921845..52921846 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.73-306G>A	single nucleotide variant	not provided [RCV000826309]	Chr18:55585658 [GRCh38] Chr18:53252889 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.539del (p.Leu180fs)	deletion	Pitt-Hopkins syndrome [RCV000990104]	Chr18:55350369 [GRCh38] Chr18:53017600 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.481C>T (p.Leu161Phe)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000817906]	Chr18:55350892 [GRCh38] Chr18:53018123 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.370-243A>T	single nucleotide variant	not provided [RCV000836962]	Chr18:55351246 [GRCh38] Chr18:53018477 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.593_602delinsGCCGACTACAATAGGGAC (p.Ser198_Tyr201delinsCysArgLeuGlnTer)	indel	Pitt-Hopkins syndrome [RCV000821900]	Chr18:55279604..55279613 [GRCh38] Chr18:52946835..52946844 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1350+281C>A	single nucleotide variant	not provided [RCV000828888]	Chr18:55254216 [GRCh38] Chr18:52921447 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.358G>T (p.Gly120Cys)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000794454]	Chr18:55403465 [GRCh38] Chr18:53070696 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.423C>T (p.Pro141=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001457426]	Chr18:55350950 [GRCh38] Chr18:53018181 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.991-142A>G	single nucleotide variant	not provided [RCV000831456]	Chr18:55260169 [GRCh38] Chr18:52927400 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.1486+172T>C	single nucleotide variant	not provided [RCV000831457]	Chr18:55234376 [GRCh38] Chr18:52901607 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.72+248C>T	single nucleotide variant	not provided [RCV000831492]	Chr18:55586797 [GRCh38] Chr18:53254028 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.1070-202T>A	single nucleotide variant	not provided [RCV000838501]	Chr18:55257593 [GRCh38] Chr18:52924824 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1147-69A>G	single nucleotide variant	not provided [RCV000829848]	Chr18:55254769 [GRCh38] Chr18:52922000 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.1350+55A>G	single nucleotide variant	not provided [RCV000829849]	Chr18:55254442 [GRCh38] Chr18:52921673 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.1880-65G>A	single nucleotide variant	not provided [RCV000829850]	Chr18:55228426 [GRCh38] Chr18:52895657 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.656-116C>G	single nucleotide variant	not provided [RCV000835410]	Chr18:55275868 [GRCh38] Chr18:52943099 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.145+226C>T	single nucleotide variant	not provided [RCV000829861]	Chr18:55585054 [GRCh38] Chr18:53252285 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.1650-202C>T	single nucleotide variant	not provided [RCV000829865]	Chr18:55229278 [GRCh38] Chr18:52896509 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.1304C>A (p.Ser435Ter)	single nucleotide variant	not provided [RCV003315061]	Chr18:55254543 [GRCh38] Chr18:52921774 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.619G>T (p.Ala207Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000824081]	Chr18:55279587 [GRCh38] Chr18:52946818 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.526del (p.Val176fs)	deletion	not provided [RCV001091652]	Chr18:55350382 [GRCh38] Chr18:53017613 [GRCh37] Chr18:18q21.2	pathogenic
NM_001243226.3(TCF4):c.74del (p.Asn25fs)	deletion	Pitt-Hopkins syndrome [RCV002272403]\|not provided [RCV001170028]	Chr18:55635824 [GRCh38] Chr18:53303055 [GRCh37] Chr18:18q21.2	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity
NM_001083962.2(TCF4):c.1609G>A (p.Asp537Asn)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001064911]	Chr18:55232549 [GRCh38] Chr18:52899780 [GRCh37] Chr18:18q21.2	uncertain significance
GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3	copy number gain	not provided [RCV000847118]	Chr18:45621155..61416536 [GRCh37] Chr18:18q21.1-21.33	pathogenic
NM_003199.2(TCF4):c.-458A>C	single nucleotide variant	not provided [RCV000996691]	Chr18:55588475 [GRCh38] Chr18:53255706 [GRCh37] Chr18:18q21.2	uncertain significance
GRCh37/hg19 18q21.2(chr18:52640139-53090100)x3	copy number gain	not provided [RCV000847073]	Chr18:52640139..53090100 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1486G>T (p.Gly496Cys)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000851328]	Chr18:55234548 [GRCh38] Chr18:52901779 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1738_1740del (p.Arg580del)	deletion	Intellectual disability [RCV000851504]	Chr18:55228986..55228988 [GRCh38] Chr18:52896217..52896219 [GRCh37] Chr18:18q21.2	likely pathogenic
GRCh37/hg19 18q21.2(chr18:53144168-53366573)x3	copy number gain	not provided [RCV000849744]	Chr18:53144168..53366573 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1879+10G>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV001498327]	Chr18:55228837 [GRCh38] Chr18:52896068 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1244del (p.His415fs)	deletion	not provided [RCV001009051]	Chr18:55254603 [GRCh38] Chr18:52921834 [GRCh37] Chr18:18q21.2	pathogenic
GRCh37/hg19 18q21.2(chr18:53100586-53238245)x1	copy number loss	not provided [RCV001006983]	Chr18:53100586..53238245 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.41_42del (p.Lys14fs)	deletion	not provided [RCV001009167]	Chr18:55587075..55587076 [GRCh38] Chr18:53254306..53254307 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.918_922+8del	deletion	Pitt-Hopkins syndrome [RCV000990102]	Chr18:55269823..55269835 [GRCh38] Chr18:52937054..52937066 [GRCh37] Chr18:18q21.2	pathogenic
GRCh37/hg19 18q21.2(chr18:52956790-53108471)x1	copy number loss	not provided [RCV001006981]	Chr18:52956790..53108471 [GRCh37] Chr18:18q21.2	pathogenic
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1	copy number loss	not provided [RCV001007016]	Chr18:49460596..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
NM_001083962.2(TCF4):c.836C>T (p.Pro279Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001045050]	Chr18:55269917 [GRCh38] Chr18:52937148 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.923-27T>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV000990101]\|not provided [RCV004704395]	Chr18:55261560 [GRCh38] Chr18:52928791 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1203del (p.Asn402fs)	deletion	Pitt-Hopkins syndrome [RCV001226861]	Chr18:55254644 [GRCh38] Chr18:52921875 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.762del (p.Cys255fs)	deletion	Pitt-Hopkins syndrome [RCV001227333]	Chr18:55275646 [GRCh38] Chr18:52942877 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1720A>G (p.Asn574Asp)	single nucleotide variant	Inborn genetic diseases [RCV001266027]\|Pitt-Hopkins syndrome [RCV001221156]	Chr18:55229006 [GRCh38] Chr18:52896237 [GRCh37] Chr18:18q21.2	pathogenic\|likely pathogenic
NM_001083962.2(TCF4):c.717del (p.Gly240fs)	deletion	Pitt-Hopkins syndrome [RCV001238298]	Chr18:55275691 [GRCh38] Chr18:52942922 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.998C>T (p.Ser333Phe)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001238426]	Chr18:55260020 [GRCh38] Chr18:52927251 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1481_1482insAA (p.Tyr494Ter)	insertion	Pitt-Hopkins syndrome [RCV001229484]	Chr18:55234552..55234553 [GRCh38] Chr18:52901783..52901784 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.*3397T>A	single nucleotide variant	not provided [RCV003312415]	Chr18:55224638 [GRCh38] Chr18:52891869 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.655+2T>G	single nucleotide variant	not provided [RCV003312417]	Chr18:55279549 [GRCh38] Chr18:52946780 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.935G>A (p.Ser312Asn)	single nucleotide variant	not provided [RCV003313649]	Chr18:55261521 [GRCh38] Chr18:52928752 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.789+18G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV001198691]	Chr18:55275601 [GRCh38] Chr18:52942832 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.*2354A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV001127302]	Chr18:55225681 [GRCh38] Chr18:52892912 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*2282C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV001127304]	Chr18:55225753 [GRCh38] Chr18:52892984 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*1983T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV001127305]	Chr18:55226052 [GRCh38] Chr18:52893283 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*1931G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV001127307]	Chr18:55226104 [GRCh38] Chr18:52893335 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*1914C>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV001127308]	Chr18:55226121 [GRCh38] Chr18:52893352 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1135_1136insGT (p.Leu379fs)	insertion	not provided [RCV001008637]	Chr18:55257325..55257326 [GRCh38] Chr18:52924556..52924557 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.*5480G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV001123054]	Chr18:55222555 [GRCh38] Chr18:52889786 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*5479G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV001123055]	Chr18:55222556 [GRCh38] Chr18:52889787 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*5457T>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV001123056]	Chr18:55222578 [GRCh38] Chr18:52889809 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*3386A>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV001123133]	Chr18:55224649 [GRCh38] Chr18:52891880 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1154G>A (p.Arg385Gln)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001230328]	Chr18:55254693 [GRCh38] Chr18:52921924 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.-87G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV001123420]	Chr18:55588104 [GRCh38] Chr18:53255335 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.-113C>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV001123422]	Chr18:55588130 [GRCh38] Chr18:53255361 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*4907G>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV001126788]	Chr18:55223128 [GRCh38] Chr18:52890359 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.665dup (p.His222fs)	duplication	not provided [RCV001200417]	Chr18:55275742..55275743 [GRCh38] Chr18:52942973..52942974 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1717A>G (p.Asn573Asp)	single nucleotide variant	Developmental disorder [RCV003127256]	Chr18:55229009 [GRCh38] Chr18:52896240 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1499G>T (p.Gly500Val)	single nucleotide variant	Intellectual disability [RCV003128030]	Chr18:55232659 [GRCh38] Chr18:52899890 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1831C>G (p.Leu611Val)	single nucleotide variant	not provided [RCV001564729]	Chr18:55228895 [GRCh38] Chr18:52896126 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.207+94C>G	single nucleotide variant	not provided [RCV001569257]	Chr18:55463982 [GRCh38] Chr18:53131213 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.207+98CA[11]	microsatellite	not provided [RCV001552118]	Chr18:55463949..55463956 [GRCh38] Chr18:53131180..53131187 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.207+128G>C	single nucleotide variant	not provided [RCV001548563]	Chr18:55463948 [GRCh38] Chr18:53131179 [GRCh37] Chr18:18q21.2	likely benign
NM_001243226.3(TCF4):c.258C>G (p.Thr86=)	single nucleotide variant	not provided [RCV004811349]	Chr18:55631326 [GRCh38] Chr18:53298557 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.677C>G (p.Pro226Arg)	single nucleotide variant	not provided [RCV004812876]	Chr18:55275731 [GRCh38] Chr18:52942962 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.207+98CA[16]	microsatellite	not provided [RCV001559975]	Chr18:55463948..55463949 [GRCh38] Chr18:53131179..53131180 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.200C>T (p.Pro67Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001865973]\|not provided [RCV001560534]	Chr18:55464083 [GRCh38] Chr18:53131314 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.1849G>A (p.Val617Ile)	single nucleotide variant	not provided [RCV001576725]	Chr18:55228877 [GRCh38] Chr18:52896108 [GRCh37] Chr18:18q21.2	pathogenic\|likely pathogenic
NM_001083962.2(TCF4):c.207+98CA[18]	microsatellite	not provided [RCV001672239]	Chr18:55463948..55463949 [GRCh38] Chr18:53131179..53131180 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.207+98_207+99insCTCA	insertion	not provided [RCV001667433]	Chr18:55463977..55463978 [GRCh38] Chr18:53131208..53131209 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.207+73TC[14]	microsatellite	not provided [RCV001710093]	Chr18:55463977..55463978 [GRCh38] Chr18:53131208..53131209 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.146-275A>T	single nucleotide variant	not provided [RCV001570158]	Chr18:55464412 [GRCh38] Chr18:53131643 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.207+98_207+99insCTCACA	microsatellite	not provided [RCV001552351]	Chr18:55463977..55463978 [GRCh38] Chr18:53131208..53131209 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.207+97_207+104del	deletion	not provided [RCV001614282]	Chr18:55463972..55463979 [GRCh38] Chr18:53131203..53131210 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.1351-153G>C	single nucleotide variant	not provided [RCV001552861]	Chr18:55234836 [GRCh38] Chr18:52902067 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.305-10C>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV005092699]	Chr18:55403528 [GRCh38] Chr18:53070759 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.969T>G (p.Ala323=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002066351]	Chr18:55261487 [GRCh38] Chr18:52928718 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.123A>G (p.Ala41=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001424355]	Chr18:55585302 [GRCh38] Chr18:53252533 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.550-8C>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV000875160]\|not provided [RCV001672975]	Chr18:55279664 [GRCh38] Chr18:52946895 [GRCh37] Chr18:18q21.2	likely benign
NM_001243226.3(TCF4):c.239C>T (p.Thr80Met)	single nucleotide variant	not provided [RCV000996692]	Chr18:55631345 [GRCh38] Chr18:53298576 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1371T>C (p.Asp457=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV000899739]	Chr18:55234663 [GRCh38] Chr18:52901894 [GRCh37] Chr18:18q21.2	likely benign
NM_001243230.2(TCF4):c.58A>G (p.Lys20Glu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001198596]	Chr18:55588478 [GRCh38] Chr18:53255709 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.146-46442G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV001198683]\|not provided [RCV003222253]	Chr18:55510579 [GRCh38] Chr18:53177810 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.789+327T>G	single nucleotide variant	not provided [RCV001539514]	Chr18:55275292 [GRCh38] Chr18:52942523 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1147-3C>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV001209903]\|not specified [RCV001174968]	Chr18:55254703 [GRCh38] Chr18:52921934 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*4789G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV001126790]	Chr18:55223246 [GRCh38] Chr18:52890477 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*708T>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV001126994]	Chr18:55227327 [GRCh38] Chr18:52894558 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.*4320A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV001127197]	Chr18:55223715 [GRCh38] Chr18:52890946 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*3938G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV001127199]	Chr18:55224097 [GRCh38] Chr18:52891328 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.*521G>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV001127411]	Chr18:55227514 [GRCh38] Chr18:52894745 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*294C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV001127414]	Chr18:55227741 [GRCh38] Chr18:52894972 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*3338A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV001123134]	Chr18:55224697 [GRCh38] Chr18:52891928 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*1747T>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV001123233]	Chr18:55226288 [GRCh38] Chr18:52893519 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.513G>C (p.Lys171Asn)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001216927]	Chr18:55350395 [GRCh38] Chr18:53017626 [GRCh37] Chr18:18q21.2	uncertain significance
NC_000018.10:g.(?_55234528)_(55234703_?)del	deletion	Pitt-Hopkins syndrome [RCV001033873]	Chr18:52901759..52901934 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.903C>T (p.Asn301=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001125433]\|not provided [RCV001712855]	Chr18:55269850 [GRCh38] Chr18:52937081 [GRCh37] Chr18:18q21.2	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001083962.2(TCF4):c.370-5T>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV001225436]	Chr18:55351008 [GRCh38] Chr18:53018239 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.1281T>C (p.Asn427=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001439075]	Chr18:55254566 [GRCh38] Chr18:52921797 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1356del (p.Thr453fs)	deletion	Pitt-Hopkins syndrome [RCV002470405]	Chr18:55234678 [GRCh38] Chr18:52901909 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.*4+34C>T	single nucleotide variant	not provided [RCV001621325]	Chr18:55228187 [GRCh38] Chr18:52895418 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.1486+5G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV001563622]	Chr18:55234543 [GRCh38] Chr18:52901774 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.404A>G (p.Asn135Ser)	single nucleotide variant	not provided [RCV001593855]	Chr18:55350969 [GRCh38] Chr18:53018200 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1879+32G>A	single nucleotide variant	not provided [RCV001593984]	Chr18:55228815 [GRCh38] Chr18:52896046 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.368A>G (p.Gln123Arg)	single nucleotide variant	not provided [RCV001553275]	Chr18:55403455 [GRCh38] Chr18:53070686 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.369+1672A>G	single nucleotide variant	not provided [RCV003312418]	Chr18:55401782 [GRCh38] Chr18:53069013 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.550-2A>C	single nucleotide variant	not provided [RCV002464674]	Chr18:55279658 [GRCh38] Chr18:52946889 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.305-159dup	duplication	Pitt-Hopkins syndrome [RCV002472229]	Chr18:55403676..55403677 [GRCh38] Chr18:53070907..53070908 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1106C>A (p.Ala369Asp)	single nucleotide variant	Oculomotor apraxia [RCV001263440]\|Pitt-Hopkins syndrome [RCV001880058]\|not provided [RCV001760308]\|not specified [RCV004800947]	Chr18:55257355 [GRCh38] Chr18:52924586 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.72+204del	deletion	not provided [RCV001722828]	Chr18:55586841 [GRCh38] Chr18:53254072 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.208-122C>A	single nucleotide variant	not provided [RCV001676442]	Chr18:55461237 [GRCh38] Chr18:53128468 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.207+97_207+102del	deletion	not provided [RCV001590728]	Chr18:55463974..55463979 [GRCh38] Chr18:53131205..53131210 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.207+98CA[17]	microsatellite	not provided [RCV001673345]	Chr18:55463948..55463949 [GRCh38] Chr18:53131179..53131180 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.207+129_207+130insAC	insertion	not provided [RCV001598515]	Chr18:55463946..55463947 [GRCh38] Chr18:53131177..53131178 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1966G>A (p.Gly656Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001034281]	Chr18:55228275 [GRCh38] Chr18:52895506 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.*1855G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV001123232]	Chr18:55226180 [GRCh38] Chr18:52893411 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*5339A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV001124124]	Chr18:55222696 [GRCh38] Chr18:52889927 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.148G>T (p.Val50Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001034482]	Chr18:55464135 [GRCh38] Chr18:53131366 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.922+1G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV001252366]	Chr18:55269830 [GRCh38] Chr18:52937061 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.637_639delinsCTTCATGCAACCAGCACTT (p.Ser213fs)	indel	Pitt-Hopkins syndrome [RCV001253783]	Chr18:55279567..55279569 [GRCh38] Chr18:52946798..52946800 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.*1739G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV001124333]	Chr18:55226296 [GRCh38] Chr18:52893527 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.343G>C (p.Glu115Gln)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001071212]	Chr18:55403480 [GRCh38] Chr18:53070711 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.1(TCF4):c.-605G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV001124522]	Chr18:55588622 [GRCh38] Chr18:53255853 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.939G>A (p.Gly313=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001125432]	Chr18:55261517 [GRCh38] Chr18:52928748 [GRCh37] Chr18:18q21.2	conflicting interpretations of pathogenicity\|uncertain significance
NM_001083962.2(TCF4):c.294del (p.Arg99fs)	deletion	Pitt-Hopkins syndrome [RCV001027865]	Chr18:55461029 [GRCh38] Chr18:53128260 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1139del (p.His380fs)	deletion	not provided [RCV001091651]	Chr18:55257322 [GRCh38] Chr18:52924553 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.*4833A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV001126789]	Chr18:55223202 [GRCh38] Chr18:52890433 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*4623A>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV001126792]	Chr18:55223412 [GRCh38] Chr18:52890643 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*2300G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV001127303]	Chr18:55225735 [GRCh38] Chr18:52892966 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*5124G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV001126787]	Chr18:55222911 [GRCh38] Chr18:52890142 [GRCh37] Chr18:18q21.2	uncertain significance
GRCh37/hg19 18q21.2(chr18:51802787-53000275)x3	copy number gain	See cases [RCV001007426]	Chr18:51802787..53000275 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*4246G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV001127198]	Chr18:55223789 [GRCh38] Chr18:52891020 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.-77C>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV001127540]	Chr18:55588094 [GRCh38] Chr18:53255325 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*452T>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV001127412]\|not provided [RCV003311948]	Chr18:55227583 [GRCh38] Chr18:52894814 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.*272G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV001127415]	Chr18:55227763 [GRCh38] Chr18:52894994 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*3563A>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV001123132]	Chr18:55224472 [GRCh38] Chr18:52891703 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*3209A>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV001124215]	Chr18:55224826 [GRCh38] Chr18:52892057 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*3130C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV001124216]	Chr18:55224905 [GRCh38] Chr18:52892136 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*3014C>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV001124217]	Chr18:55225021 [GRCh38] Chr18:52892252 [GRCh37] Chr18:18q21.2	uncertain significance
NC_000018.10:g.(?_55228205)_(55403734_?)dup	duplication	Pitt-Hopkins syndrome [RCV001032555]	Chr18:52895436..53070965 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.305-53dup	duplication	not provided [RCV001587490]	Chr18:55403562..55403563 [GRCh38] Chr18:53070793..53070794 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.*10A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV001542411]	Chr18:55228025 [GRCh38] Chr18:52895256 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.73A>G (p.Met25Val)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001050399]	Chr18:55585352 [GRCh38] Chr18:53252583 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.145+123C>T	single nucleotide variant	not provided [RCV001615826]	Chr18:55585157 [GRCh38] Chr18:53252388 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.990+192C>T	single nucleotide variant	not provided [RCV001643307]	Chr18:55261274 [GRCh38] Chr18:52928505 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.1681del (p.Gln561fs)	deletion	Pitt-Hopkins syndrome [RCV001204774]	Chr18:55229045 [GRCh38] Chr18:52896276 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.107G>A (p.Gly36Glu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001235024]	Chr18:55585318 [GRCh38] Chr18:53252549 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1349T>C (p.Met450Thr)	single nucleotide variant	Inborn genetic diseases [RCV002553836]\|Pitt-Hopkins syndrome [RCV001057566]\|not specified [RCV005418975]	Chr18:55254498 [GRCh38] Chr18:52921729 [GRCh37] Chr18:18q21.2	benign\|uncertain significance
NM_001083962.2(TCF4):c.1646C>G (p.Ser549Cys)	single nucleotide variant	not provided [RCV001091649]	Chr18:55232512 [GRCh38] Chr18:52899743 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.*5369C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV001124123]	Chr18:55222666 [GRCh38] Chr18:52889897 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.*1443C>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV001124334]	Chr18:55226592 [GRCh38] Chr18:52893823 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*1017G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV001124336]	Chr18:55227018 [GRCh38] Chr18:52894249 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1267G>C (p.Gly423Arg)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001235064]	Chr18:55254580 [GRCh38] Chr18:52921811 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1772T>C (p.Leu591Pro)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001059274]	Chr18:55228954 [GRCh38] Chr18:52896185 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.145+6T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV001034078]	Chr18:55585274 [GRCh38] Chr18:53252505 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1619A>G (p.Asp540Gly)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001213733]	Chr18:55232539 [GRCh38] Chr18:52899770 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.721A>T (p.Met241Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001203505]	Chr18:55275687 [GRCh38] Chr18:52942918 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*4752A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV001126791]	Chr18:55223283 [GRCh38] Chr18:52890514 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1952C>A (p.Pro651His)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001123338]	Chr18:55228289 [GRCh38] Chr18:52895520 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.1(TCF4):c.-184T>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV001123423]	Chr18:55588201 [GRCh38] Chr18:53255432 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*819A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV001126993]	Chr18:55227216 [GRCh38] Chr18:52894447 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*4437G>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV001127196]	Chr18:55223598 [GRCh38] Chr18:52890829 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.589G>A (p.Asp197Asn)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001212416]	Chr18:55279617 [GRCh38] Chr18:52946848 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1118dup (p.Pro373_Asn374insTer)	duplication	Pitt-Hopkins syndrome [RCV001027850]	Chr18:55257342..55257343 [GRCh38] Chr18:52924573..52924574 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.*1959G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV001127306]	Chr18:55226076 [GRCh38] Chr18:52893307 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*548C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV001127410]	Chr18:55227487 [GRCh38] Chr18:52894718 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*295G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV001127413]	Chr18:55227740 [GRCh38] Chr18:52894971 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.659G>A (p.Gly220Asp)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001040581]	Chr18:55275749 [GRCh38] Chr18:52942980 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*2918A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV001124218]	Chr18:55225117 [GRCh38] Chr18:52892348 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*1405T>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV001124335]	Chr18:55226630 [GRCh38] Chr18:52893861 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1501C>T (p.Leu501=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001124425]\|not provided [RCV004597960]	Chr18:55232657 [GRCh38] Chr18:52899888 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.1036T>G (p.Ser346Ala)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001202549]	Chr18:55259982 [GRCh38] Chr18:52927213 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*138G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV001123337]	Chr18:55227897 [GRCh38] Chr18:52895128 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.-102G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV001123421]	Chr18:55588119 [GRCh38] Chr18:53255350 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.823T>G (p.Ser275Ala)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001069110]	Chr18:55269930 [GRCh38] Chr18:52937161 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.*5370G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV001124122]	Chr18:55222665 [GRCh38] Chr18:52889896 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1777del (p.Arg593fs)	deletion	Pitt-Hopkins syndrome [RCV001069850]	Chr18:55228949 [GRCh38] Chr18:52896180 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.904G>A (p.Gly302Arg)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001231724]	Chr18:55269849 [GRCh38] Chr18:52937080 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1351G>A (p.Val451Met)	single nucleotide variant	Inborn genetic diseases [RCV004963034]\|Pitt-Hopkins syndrome [RCV001048465]	Chr18:55234683 [GRCh38] Chr18:52901914 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.922+5G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV001063198]	Chr18:55269826 [GRCh38] Chr18:52937057 [GRCh37] Chr18:18q21.2	pathogenic\|uncertain significance
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	copy number gain	not provided [RCV001537911]	Chr18:23626739..78014976 [GRCh37] Chr18:18q11.2-23	pathogenic
NM_001083962.2(TCF4):c.1459_1462dup (p.Asn488fs)	duplication	Global developmental delay [RCV001255403]	Chr18:55234571..55234572 [GRCh38] Chr18:52901802..52901803 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.458G>A (p.Ser153Asn)	single nucleotide variant	Microcephaly [RCV001252787]	Chr18:55350915 [GRCh38] Chr18:53018146 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1813C>T (p.Gln605Ter)	single nucleotide variant	Microcephaly [RCV001252686]\|Pitt-Hopkins syndrome [RCV003444736]	Chr18:55228913 [GRCh38] Chr18:52896144 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.991-8_991-4del	deletion	Pitt-Hopkins syndrome [RCV001885065]\|not provided [RCV001765836]	Chr18:55260031..55260035 [GRCh38] Chr18:52927262..52927266 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.1816A>C (p.Thr606Pro)	single nucleotide variant	Inborn genetic diseases [RCV001266931]	Chr18:55228910 [GRCh38] Chr18:52896141 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1486+1G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV001255977]	Chr18:55234547 [GRCh38] Chr18:52901778 [GRCh37] Chr18:18q21.2	pathogenic\|likely pathogenic
NM_001083962.2(TCF4):c.1879+1G>T	single nucleotide variant	not provided [RCV002280083]	Chr18:55228846 [GRCh38] Chr18:52896077 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1899dup (p.Ala634fs)	duplication	not provided [RCV001267974]	Chr18:55228341..55228342 [GRCh38] Chr18:52895572..52895573 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.808T>A (p.Ser270Thr)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001262615]	Chr18:55269945 [GRCh38] Chr18:52937176 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001243226.3(TCF4):c.86T>C (p.Met29Thr)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001262626]	Chr18:55635812 [GRCh38] Chr18:53303043 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.740A>G (p.His247Arg)	single nucleotide variant	not specified [RCV004782171]	Chr18:55275668 [GRCh38] Chr18:52942899 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1295_1296del (p.Gly432fs)	deletion	not provided [RCV001268120]	Chr18:55254551..55254552 [GRCh38] Chr18:52921782..52921783 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.719G>C (p.Gly240Ala)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001964313]	Chr18:55275689 [GRCh38] Chr18:52942920 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.656-1G>A	single nucleotide variant	not provided [RCV001268809]	Chr18:55275753 [GRCh38] Chr18:52942984 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1832T>C (p.Leu611Pro)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005401954]\|not provided [RCV002284811]	Chr18:55228894 [GRCh38] Chr18:52896125 [GRCh37] Chr18:18q21.2	pathogenic\|likely pathogenic
NM_001083962.2(TCF4):c.624del (p.Ser209fs)	deletion	Inborn genetic diseases [RCV001266927]	Chr18:55279582 [GRCh38] Chr18:52946813 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1348A>G (p.Met450Val)	single nucleotide variant	Inborn genetic diseases [RCV004967992]\|Pitt-Hopkins syndrome [RCV001308029]\|not provided [RCV002508306]	Chr18:55254499 [GRCh38] Chr18:52921730 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.1951C>G (p.Pro651Ala)	single nucleotide variant	Inborn genetic diseases [RCV004681137]\|Pitt-Hopkins syndrome [RCV001351836]	Chr18:55228290 [GRCh38] Chr18:52895521 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.1778G>A (p.Arg593His)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001302137]	Chr18:55228948 [GRCh38] Chr18:52896179 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1771C>T (p.Leu591Phe)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001337348]	Chr18:55228955 [GRCh38] Chr18:52896186 [GRCh37] Chr18:18q21.2	likely pathogenic\|uncertain significance
GRCh37/hg19 18q21.2-23(chr18:51925586-78010032)	copy number gain	Global developmental delay [RCV001352665]	Chr18:51925586..78010032 [GRCh37] Chr18:18q21.2-23	pathogenic
NM_001083962.2(TCF4):c.548C>G (p.Ser183Ter)	single nucleotide variant	not provided [RCV001269639]	Chr18:55350360 [GRCh38] Chr18:53017591 [GRCh37] Chr18:18q21.2	pathogenic
Single allele	deletion	Intellectual disability, mild [RCV001787258]	Chr18:53243454..53287927 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1650-6C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV001392587]	Chr18:55229082 [GRCh38] Chr18:52896313 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1406C>T (p.Pro469Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001373725]	Chr18:55234628 [GRCh38] Chr18:52901859 [GRCh37] Chr18:18q21.2	uncertain significance
NC_000018.9:g.(?_52895436)_(53070965_?)dup	duplication	Pitt-Hopkins syndrome [RCV001295197]	Chr18:52895436..53070965 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.146-136A>T	single nucleotide variant	not provided [RCV001538922]	Chr18:55464273 [GRCh38] Chr18:53131504 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1448C>G (p.Thr483Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001321438]	Chr18:55234586 [GRCh38] Chr18:52901817 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.136A>G (p.Thr46Ala)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001345640]	Chr18:55585289 [GRCh38] Chr18:53252520 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.350A>C (p.Asn117Thr)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001308535]	Chr18:55403473 [GRCh38] Chr18:53070704 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.304A>C (p.Ser102Arg)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001299122]	Chr18:55461019 [GRCh38] Chr18:53128250 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1201C>T (p.Arg401Trp)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001345819]	Chr18:55254646 [GRCh38] Chr18:52921877 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1331C>T (p.Ala444Val)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001343825]	Chr18:55254516 [GRCh38] Chr18:52921747 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.550-22803C>T	single nucleotide variant	not provided [RCV001356978]	Chr18:55302459 [GRCh38] Chr18:52969690 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.554A>G (p.Tyr185Cys)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001296531]	Chr18:55279652 [GRCh38] Chr18:52946883 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.220G>A (p.Gly74Arg)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001315237]	Chr18:55461103 [GRCh38] Chr18:53128334 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.549+1_549+2dup	duplication	Pitt-Hopkins syndrome [RCV001348557]	Chr18:55350356..55350357 [GRCh38] Chr18:53017587..53017588 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1806C>G (p.Asp602Glu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001359240]	Chr18:55228920 [GRCh38] Chr18:52896151 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.797C>T (p.Pro266Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001371168]	Chr18:55269956 [GRCh38] Chr18:52937187 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1744C>T (p.Arg582Cys)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001300533]\|not provided [RCV002298925]	Chr18:55228982 [GRCh38] Chr18:52896213 [GRCh37] Chr18:18q21.2	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001083962.2(TCF4):c.671G>A (p.Ser224Asn)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001472918]	Chr18:55275737 [GRCh38] Chr18:52942968 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.441G>C (p.Gln147His)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001522519]\|not provided [RCV005369906]	Chr18:55350932 [GRCh38] Chr18:53018163 [GRCh37] Chr18:18q21.2	benign\|uncertain significance
NM_001083962.2(TCF4):c.1171G>T (p.Glu391Ter)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001384836]	Chr18:55254676 [GRCh38] Chr18:52921907 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1650-4A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV001451931]	Chr18:55229080 [GRCh38] Chr18:52896311 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.370-8C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV001402944]	Chr18:55351011 [GRCh38] Chr18:53018242 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.649A>C (p.Met217Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001515996]\|not specified [RCV001821822]	Chr18:55279557 [GRCh38] Chr18:52946788 [GRCh37] Chr18:18q21.2	benign\|uncertain significance
NM_001083962.2(TCF4):c.1905G>C (p.Ala635=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001489067]	Chr18:55228336 [GRCh38] Chr18:52895567 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.369+9G>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV001474400]	Chr18:55403445 [GRCh38] Chr18:53070676 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.520C>A (p.Arg174=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001456127]\|not provided [RCV004704574]	Chr18:55350388 [GRCh38] Chr18:53017619 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.576C>A (p.Ala192=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001462960]\|not provided [RCV004598000]	Chr18:55279630 [GRCh38] Chr18:52946861 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.145+7A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV001474497]	Chr18:55585273 [GRCh38] Chr18:53252504 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1659C>T (p.Asp553=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001404369]	Chr18:55229067 [GRCh38] Chr18:52896298 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.624C>G (p.Thr208=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001432446]	Chr18:55279582 [GRCh38] Chr18:52946813 [GRCh37] Chr18:18q21.2	likely benign
NC_000018.9:g.(?_52888562)_53256860del	deletion	Pitt-Hopkins syndrome [RCV001387477]		pathogenic
NM_001083962.2(TCF4):c.500-4T>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV001443736]	Chr18:55350412 [GRCh38] Chr18:53017643 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1656T>C (p.Asn552=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001439785]	Chr18:55229070 [GRCh38] Chr18:52896301 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.36G>C (p.Thr12=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001449316]	Chr18:55587081 [GRCh38] Chr18:53254312 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.696G>A (p.Gly232=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001417343]	Chr18:55275712 [GRCh38] Chr18:52942943 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.770dup (p.His258fs)	duplication	Pitt-Hopkins syndrome [RCV001390496]	Chr18:55275637..55275638 [GRCh38] Chr18:52942868..52942869 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1505dup (p.Gln504fs)	duplication	Pitt-Hopkins syndrome [RCV001381770]	Chr18:55232652..55232653 [GRCh38] Chr18:52899883..52899884 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.361T>G (p.Cys121Gly)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001509805]	Chr18:55403462 [GRCh38] Chr18:53070693 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.146-120G>T	single nucleotide variant	not provided [RCV001715611]	Chr18:55464257 [GRCh38] Chr18:53131488 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.1050C>G (p.Gly350=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001477459]	Chr18:55259968 [GRCh38] Chr18:52927199 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1147-76G>A	single nucleotide variant	not provided [RCV001674462]	Chr18:55254776 [GRCh38] Chr18:52922007 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.237C>T (p.His79=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001494940]	Chr18:55461086 [GRCh38] Chr18:53128317 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.810A>G (p.Ser270=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001457005]	Chr18:55269943 [GRCh38] Chr18:52937174 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.146-5C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV001503393]	Chr18:55464142 [GRCh38] Chr18:53131373 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.879C>T (p.Thr293=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001503452]	Chr18:55269874 [GRCh38] Chr18:52937105 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1946C>T (p.Pro649Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001476305]	Chr18:55228295 [GRCh38] Chr18:52895526 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.655+9C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV001476536]	Chr18:55279542 [GRCh38] Chr18:52946773 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.414C>G (p.Thr138=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001423728]\|not specified [RCV005237803]	Chr18:55350959 [GRCh38] Chr18:53018190 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1487-7T>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV001456211]	Chr18:55232678 [GRCh38] Chr18:52899909 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1617G>A (p.Lys539=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001468034]	Chr18:55232541 [GRCh38] Chr18:52899772 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.550-12_550-2del	deletion	Pitt-Hopkins syndrome [RCV001377381]	Chr18:55279658..55279668 [GRCh38] Chr18:52946889..52946899 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.991-1del	deletion	Pitt-Hopkins syndrome [RCV001379512]	Chr18:55260028 [GRCh38] Chr18:52927259 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.499+8A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV001483973]	Chr18:55350866 [GRCh38] Chr18:53018097 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.677del (p.Pro226fs)	deletion	Pitt-Hopkins syndrome [RCV001528123]	Chr18:55275731 [GRCh38] Chr18:52942962 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.753C>T (p.Ser251=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001400853]	Chr18:55275655 [GRCh38] Chr18:52942886 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.337G>T (p.Gly113Trp)	single nucleotide variant	not provided [RCV001508831]	Chr18:55403486 [GRCh38] Chr18:53070717 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.708T>G (p.Pro236=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001456664]	Chr18:55275700 [GRCh38] Chr18:52942931 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1504C>T (p.Gln502Ter)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001384784]	Chr18:55232654 [GRCh38] Chr18:52899885 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.550-22780G>A	single nucleotide variant	Corneal dystrophy, Fuchs endothelial, 3 [RCV003225763]	Chr18:55302436 [GRCh38] Chr18:52969667 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.549+28669T>C	single nucleotide variant	See cases [RCV002253047]	Chr18:55321690 [GRCh38] Chr18:52988921 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.573T>C (p.Thr191=)	single nucleotide variant	not provided [RCV001727062]	Chr18:55279633 [GRCh38] Chr18:52946864 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1392C>A (p.Ser464Arg)	single nucleotide variant	not provided [RCV004798478]	Chr18:55234642 [GRCh38] Chr18:52901873 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.245G>A (p.Ser82Asn)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002077195]\|not provided [RCV001755142]	Chr18:55461078 [GRCh38] Chr18:53128309 [GRCh37] Chr18:18q21.2	benign\|likely benign\|uncertain significance
NM_001083962.2(TCF4):c.755del (p.Ser252fs)	deletion	not provided [RCV001783856]	Chr18:55275653 [GRCh38] Chr18:52942884 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.579C>G (p.Asp193Glu)	single nucleotide variant	Inborn genetic diseases [RCV003253723]	Chr18:55279627 [GRCh38] Chr18:52946858 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1454_1455del (p.Pro485fs)	deletion	Pitt-Hopkins syndrome [RCV001785391]	Chr18:55234579..55234580 [GRCh38] Chr18:52901810..52901811 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.322T>G (p.Ser108Ala)	single nucleotide variant	not provided [RCV001767012]	Chr18:55403501 [GRCh38] Chr18:53070732 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1481dup (p.Tyr494Ter)	duplication	not provided [RCV001783855]	Chr18:55234552..55234553 [GRCh38] Chr18:52901783..52901784 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.715G>C (p.Ala239Pro)	single nucleotide variant	not provided [RCV003238638]	Chr18:55275693 [GRCh38] Chr18:52942924 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1165C>T (p.Arg389Cys)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001769978]\|not provided [RCV001822000]	Chr18:55254682 [GRCh38] Chr18:52921913 [GRCh37] Chr18:18q21.2	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_001083962.2(TCF4):c.990+1G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV001775439]	Chr18:55261465 [GRCh38] Chr18:52928696 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.*4+1G>A	single nucleotide variant	not provided [RCV001770654]	Chr18:55228220 [GRCh38] Chr18:52895451 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.529C>T (p.Pro177Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002543906]\|not provided [RCV001732799]	Chr18:55350379 [GRCh38] Chr18:53017610 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.650T>C (p.Met217Thr)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001882812]\|Pitt-Hopkins syndrome [RCV005396983]\|not provided [RCV001754361]	Chr18:55279556 [GRCh38] Chr18:52946787 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.562T>A (p.Ser188Thr)	single nucleotide variant	SUDDEN INFANT DEATH SYNDROME [RCV001787419]	Chr18:55279644 [GRCh38] Chr18:52946875 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.560dup (p.Ser188fs)	duplication	Pitt-Hopkins syndrome [RCV001775344]	Chr18:55279645..55279646 [GRCh38] Chr18:52946876..52946877 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.635C>G (p.Pro212Arg)	single nucleotide variant	not provided [RCV001752423]	Chr18:55279571 [GRCh38] Chr18:52946802 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1379C>T (p.Ala460Val)	single nucleotide variant	not provided [RCV001768561]	Chr18:55234655 [GRCh38] Chr18:52901886 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.988T>G (p.Ser330Ala)	single nucleotide variant	not provided [RCV001754022]	Chr18:55261468 [GRCh38] Chr18:52928699 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.946G>A (p.Gly316Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001885307]\|not provided [RCV001816222]	Chr18:55261510 [GRCh38] Chr18:52928741 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1817C>T (p.Thr606Ile)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001788532]	Chr18:55228909 [GRCh38] Chr18:52896140 [GRCh37] Chr18:18q21.2	pathogenic\|uncertain significance
Single allele	deletion	Intellectual disability [RCV001787257]	Chr18:1262336..53254747 [GRCh37] Chr18:18p11.32-q21.2	pathogenic
NM_001083962.2(TCF4):c.1196T>C (p.Val399Ala)	single nucleotide variant	not provided [RCV001815841]	Chr18:55254651 [GRCh38] Chr18:52921882 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.235C>G (p.His79Asp)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002542363]\|not provided [RCV001806681]	Chr18:55461088 [GRCh38] Chr18:53128319 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001243226.3(TCF4):c.59T>G (p.Phe20Cys)	single nucleotide variant	not provided [RCV001816223]	Chr18:55635839 [GRCh38] Chr18:53303070 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1208A>T (p.His403Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001809038]	Chr18:55254639 [GRCh38] Chr18:52921870 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1663G>T (p.Glu555Ter)	single nucleotide variant	not provided [RCV001817860]	Chr18:55229063 [GRCh38] Chr18:52896294 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1059A>G (p.Pro353=)	single nucleotide variant	not specified [RCV001819354]	Chr18:55259959 [GRCh38] Chr18:52927190 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1397C>G (p.Ser466Cys)	single nucleotide variant	See cases [RCV004798144]	Chr18:55234637 [GRCh38] Chr18:52901868 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1343C>G (p.Ser448Ter)	single nucleotide variant	not provided [RCV004798367]	Chr18:55254504 [GRCh38] Chr18:52921735 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.947del (p.Gly316fs)	deletion	Pitt-Hopkins syndrome [RCV004799067]	Chr18:55261509 [GRCh38] Chr18:52928740 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1273del (p.Ser425fs)	deletion	Pitt-Hopkins syndrome [RCV004799066]	Chr18:55254574 [GRCh38] Chr18:52921805 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.667A>G (p.Ser223Gly)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001814955]	Chr18:55275741 [GRCh38] Chr18:52942972 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.577G>A (p.Asp193Asn)	single nucleotide variant	not provided [RCV001824486]	Chr18:55279629 [GRCh38] Chr18:52946860 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.246C>T (p.Ser82=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001864667]	Chr18:55461077 [GRCh38] Chr18:53128308 [GRCh37] Chr18:18q21.2	benign\|uncertain significance
NM_001083962.2(TCF4):c.207G>A (p.Arg69=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001983790]	Chr18:55464076 [GRCh38] Chr18:53131307 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.412A>G (p.Thr138Ala)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001913263]	Chr18:55350961 [GRCh38] Chr18:53018192 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)	copy number loss	not specified [RCV002052642]	Chr18:52837852..77989426 [GRCh37] Chr18:18q21.2-23	pathogenic
NM_001083962.2(TCF4):c.264T>A (p.His88Gln)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001985922]	Chr18:55461059 [GRCh38] Chr18:53128290 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1732C>T (p.Arg578Cys)	single nucleotide variant	Global developmental delay [RCV002463815]\|Pitt-Hopkins syndrome [RCV003152773]\|not provided [RCV001847470]	Chr18:55228994 [GRCh38] Chr18:52896225 [GRCh37] Chr18:18q21.2	pathogenic\|likely pathogenic
NM_001083962.2(TCF4):c.476G>A (p.Arg159Lys)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001945595]	Chr18:55350897 [GRCh38] Chr18:53018128 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.549+23042C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV001839348]	Chr18:55327317 [GRCh38] Chr18:52994548 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1727G>T (p.Arg576Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001964224]	Chr18:55228999 [GRCh38] Chr18:52896230 [GRCh37] Chr18:18q21.2	likely pathogenic\|uncertain significance
NM_001083962.2(TCF4):c.1413G>C (p.Gln471His)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001889643]	Chr18:55234621 [GRCh38] Chr18:52901852 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.421C>T (p.Pro141Ser)	single nucleotide variant	Inborn genetic diseases [RCV002329769]\|not provided [RCV001824521]	Chr18:55350952 [GRCh38] Chr18:53018183 [GRCh37] Chr18:18q21.2	uncertain significance
GRCh37/hg19 18q21.2(chr18:53289889-53383013)	copy number loss	not specified [RCV002052645]	Chr18:53289889..53383013 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.550-3C>G	single nucleotide variant	not provided [RCV001849170]	Chr18:55279659 [GRCh38] Chr18:52946890 [GRCh37] Chr18:18q21.2	not provided
NM_001083962.2(TCF4):c.1147-2A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV002044024]	Chr18:55254702 [GRCh38] Chr18:52921933 [GRCh37] Chr18:18q21.2	likely pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)	copy number loss	not specified [RCV002052643]	Chr18:53100584..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
NM_001083962.2(TCF4):c.701A>G (p.Asn234Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001891902]	Chr18:55275707 [GRCh38] Chr18:52942938 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.622_628dup (p.Thr210fs)	microsatellite	Pitt-Hopkins syndrome [RCV001928681]	Chr18:55279577..55279578 [GRCh38] Chr18:52946808..52946809 [GRCh37] Chr18:18q21.2	pathogenic
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)	copy number loss	not specified [RCV002052639]	Chr18:50739715..63705988 [GRCh37] Chr18:18q21.2-22.1	pathogenic
GRCh37/hg19 18q21.2(chr18:53277008-53428347)	copy number loss	not specified [RCV002052644]	Chr18:53277008..53428347 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1291G>T (p.Gly431Cys)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002042153]	Chr18:55254556 [GRCh38] Chr18:52921787 [GRCh37] Chr18:18q21.2	uncertain significance
GRCh37/hg19 18q21.2-21.31(chr18:50707829-54924248)	copy number loss	not specified [RCV002052638]	Chr18:50707829..54924248 [GRCh37] Chr18:18q21.2-21.31	pathogenic
GRCh37/hg19 18q21.2-23(chr18:52675201-78014123)	copy number loss	not specified [RCV002052641]	Chr18:52675201..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
NM_001083962.2(TCF4):c.1294G>C (p.Gly432Arg)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001983310]	Chr18:55254553 [GRCh38] Chr18:52921784 [GRCh37] Chr18:18q21.2	uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	copy number gain	not specified [RCV002052616]	Chr18:136226..78014123 [GRCh37] Chr18:18p11.32-q23	pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)	copy number loss	not specified [RCV002052636]	Chr18:47656799..78014123 [GRCh37] Chr18:18q21.1-23	pathogenic
NM_001083962.2(TCF4):c.1249del (p.Asp417fs)	deletion	Pitt-Hopkins syndrome [RCV001824476]	Chr18:55254598 [GRCh38] Chr18:52921829 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.955C>A (p.Gln319Lys)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001943064]	Chr18:55261501 [GRCh38] Chr18:52928732 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.178G>A (p.Gly60Arg)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002000804]	Chr18:55464105 [GRCh38] Chr18:53131336 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.622A>G (p.Thr208Ala)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002048355]	Chr18:55279584 [GRCh38] Chr18:52946815 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1057C>T (p.Pro353Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002031325]	Chr18:55259961 [GRCh38] Chr18:52927192 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.691A>G (p.Ser231Gly)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001906055]	Chr18:55275717 [GRCh38] Chr18:52942948 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1237G>C (p.Gly413Arg)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001888744]	Chr18:55254610 [GRCh38] Chr18:52921841 [GRCh37] Chr18:18q21.2	uncertain significance
NC_000018.9:g.(?_53070665)_(53070769_?)del	deletion	Pitt-Hopkins syndrome [RCV001963208]	Chr18:53070665..53070769 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.937G>A (p.Gly313Arg)	single nucleotide variant	Inborn genetic diseases [RCV004970561]\|Pitt-Hopkins syndrome [RCV001938738]	Chr18:55261519 [GRCh38] Chr18:52928750 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.145+3A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV001932306]\|not provided [RCV005412291]	Chr18:55585277 [GRCh38] Chr18:53252508 [GRCh37] Chr18:18q21.2	uncertain significance
NC_000018.9:g.(?_52921708)_(53070769_?)del	deletion	Pitt-Hopkins syndrome [RCV001956426]	Chr18:52921708..53070769 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.698T>C (p.Met233Thr)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001898150]	Chr18:55275710 [GRCh38] Chr18:52942941 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.790-1G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV002048467]	Chr18:55269964 [GRCh38] Chr18:52937195 [GRCh37] Chr18:18q21.2	pathogenic\|likely pathogenic
NM_001083962.2(TCF4):c.1468C>T (p.Pro490Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001918533]	Chr18:55234566 [GRCh38] Chr18:52901797 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.1157T>C (p.Ile386Thr)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001900101]	Chr18:55254690 [GRCh38] Chr18:52921921 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1495C>T (p.Pro499Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001867156]	Chr18:55232663 [GRCh38] Chr18:52899894 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1879G>C (p.Glu627Gln)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001881381]	Chr18:55228847 [GRCh38] Chr18:52896078 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1135_1138dup (p.His380fs)	duplication	Pitt-Hopkins syndrome [RCV001876527]	Chr18:55257322..55257323 [GRCh38] Chr18:52924553..52924554 [GRCh37] Chr18:18q21.2	pathogenic
NC_000018.9:g.(?_52895456)_(53254347_?)dup	duplication	Pitt-Hopkins syndrome [RCV001880770]	Chr18:52895456..53254347 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1418C>T (p.Pro473Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001906077]	Chr18:55234616 [GRCh38] Chr18:52901847 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.887del (p.Cys296fs)	deletion	Pitt-Hopkins syndrome [RCV001939393]	Chr18:55269866 [GRCh38] Chr18:52937097 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.9C>G (p.His3Gln)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001932097]	Chr18:55587108 [GRCh38] Chr18:53254339 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.865A>G (p.Asn289Asp)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002046624]	Chr18:55269888 [GRCh38] Chr18:52937119 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.188del (p.Gly63fs)	deletion	Pitt-Hopkins syndrome [RCV001923293]	Chr18:55464095 [GRCh38] Chr18:53131326 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1109C>T (p.Ser370Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002046689]	Chr18:55257352 [GRCh38] Chr18:52924583 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.487A>G (p.Ser163Gly)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001974550]	Chr18:55350886 [GRCh38] Chr18:53018117 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.712T>C (p.Tyr238His)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001997196]	Chr18:55275696 [GRCh38] Chr18:52942927 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1487G>C (p.Gly496Ala)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001981068]	Chr18:55232671 [GRCh38] Chr18:52899902 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1432C>G (p.Pro478Ala)	single nucleotide variant	Pitt-Hopkins syndrome [RCV001976679]	Chr18:55234602 [GRCh38] Chr18:52901833 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.1180G>C (p.Asp394His)	single nucleotide variant	Inborn genetic diseases [RCV002552165]\|Pitt-Hopkins syndrome [RCV001879566]	Chr18:55254667 [GRCh38] Chr18:52921898 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.670del (p.Ser224fs)	deletion	Pitt-Hopkins syndrome [RCV001993279]	Chr18:55275738 [GRCh38] Chr18:52942969 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1231A>G (p.Met411Val)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002091911]	Chr18:55254616 [GRCh38] Chr18:52921847 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.1110A>G (p.Ser370=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002205640]	Chr18:55257351 [GRCh38] Chr18:52924582 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.690C>T (p.Ser230=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002166153]	Chr18:55275718 [GRCh38] Chr18:52942949 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.208-16G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV002104303]	Chr18:55461131 [GRCh38] Chr18:53128362 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1880-17G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV002125486]	Chr18:55228378 [GRCh38] Chr18:52895609 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.549+18C>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV002165160]	Chr18:55350341 [GRCh38] Chr18:53017572 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1731G>A (p.Glu577=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002072606]	Chr18:55228995 [GRCh38] Chr18:52896226 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.790-17del	deletion	Pitt-Hopkins syndrome [RCV002125098]	Chr18:55269980 [GRCh38] Chr18:52937211 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.1248G>A (p.Gly416=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002164885]	Chr18:55254599 [GRCh38] Chr18:52921830 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.73-21_73-19del	deletion	Pitt-Hopkins syndrome [RCV002169450]	Chr18:55585371..55585373 [GRCh38] Chr18:53252602..53252604 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1107C>G (p.Ala369=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002166380]	Chr18:55257354 [GRCh38] Chr18:52924585 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1070-5A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV002084743]	Chr18:55257396 [GRCh38] Chr18:52924627 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.923-11T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV002207538]	Chr18:55261544 [GRCh38] Chr18:52928775 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1485_1486dup (p.Gly496fs)	microsatellite	Pitt-Hopkins syndrome [RCV002226957]	Chr18:55234547..55234548 [GRCh38] Chr18:52901778..52901779 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.369+11A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV002126150]	Chr18:55403443 [GRCh38] Chr18:53070674 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.73-12T>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV002210060]	Chr18:55585364 [GRCh38] Chr18:53252595 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.656-5T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV002106118]	Chr18:55275757 [GRCh38] Chr18:52942988 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1023T>C (p.Phe341=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002214767]	Chr18:55259995 [GRCh38] Chr18:52927226 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.5A>T (p.His2Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002133825]	Chr18:55587112 [GRCh38] Chr18:53254343 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1412A>G (p.Gln471Arg)	single nucleotide variant	Inborn genetic diseases [RCV003250454]\|Pitt-Hopkins syndrome [RCV002215964]	Chr18:55234622 [GRCh38] Chr18:52901853 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.1486+15C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV002151310]	Chr18:55234533 [GRCh38] Chr18:52901764 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.499+16G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV002189948]	Chr18:55350858 [GRCh38] Chr18:53018089 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1486+19G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV002213184]	Chr18:55234529 [GRCh38] Chr18:52901760 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.990+10T>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV002171304]	Chr18:55261456 [GRCh38] Chr18:52928687 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.783A>G (p.Glu261=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002132907]\|not specified [RCV005058077]	Chr18:55275625 [GRCh38] Chr18:52942856 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.655+11G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV002205723]	Chr18:55279540 [GRCh38] Chr18:52946771 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.837G>A (p.Pro279=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002087454]	Chr18:55269916 [GRCh38] Chr18:52937147 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.304+13T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV002080585]	Chr18:55461006 [GRCh38] Chr18:53128237 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1161A>G (p.Glu387=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002194695]	Chr18:55254686 [GRCh38] Chr18:52921917 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1608C>T (p.Asp536=)	single nucleotide variant	Inborn genetic diseases [RCV002391233]\|Pitt-Hopkins syndrome [RCV002096075]\|not provided [RCV003418376]	Chr18:55232550 [GRCh38] Chr18:52899781 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.549+28099AG[2]	microsatellite	not provided [RCV002214076]	Chr18:55322255..55322256 [GRCh38] Chr18:52989486..52989487 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.1969C>G (p.Pro657Ala)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002124646]	Chr18:55228272 [GRCh38] Chr18:52895503 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.432T>G (p.Pro144=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002149561]	Chr18:55350941 [GRCh38] Chr18:53018172 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.789+8A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV002076629]	Chr18:55275611 [GRCh38] Chr18:52942842 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.146-20A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV002172650]	Chr18:55464157 [GRCh38] Chr18:53131388 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.900C>A (p.Ala300=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002213570]	Chr18:55269853 [GRCh38] Chr18:52937084 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.146-13C>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV002099577]	Chr18:55464150 [GRCh38] Chr18:53131381 [GRCh37] Chr18:18q21.2	likely benign
NM_001243226.3(TCF4):c.237G>A (p.Trp79Ter)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002243597]	Chr18:55631347 [GRCh38] Chr18:53298578 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1059A>T (p.Pro353=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002082106]	Chr18:55259959 [GRCh38] Chr18:52927190 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1880-9C>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV002154037]	Chr18:55228370 [GRCh38] Chr18:52895601 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1699_1701del (p.Lys567del)	deletion	Pitt-Hopkins syndrome [RCV002246764]	Chr18:55229025..55229027 [GRCh38] Chr18:52896256..52896258 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.922+15del	deletion	Pitt-Hopkins syndrome [RCV002183902]	Chr18:55269816 [GRCh38] Chr18:52937047 [GRCh37] Chr18:18q21.2	likely benign
NM_001243226.3(TCF4):c.165C>T (p.Cys55=)	single nucleotide variant	See cases [RCV002252422]	Chr18:55635733 [GRCh38] Chr18:53302964 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1419G>A (p.Pro473=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002182975]	Chr18:55234615 [GRCh38] Chr18:52901846 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.991-18dup	duplication	Pitt-Hopkins syndrome [RCV002138292]	Chr18:55260044..55260045 [GRCh38] Chr18:52927275..52927276 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.73-11G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV002156937]	Chr18:55585363 [GRCh38] Chr18:53252594 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1069+19C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV002143383]	Chr18:55259930 [GRCh38] Chr18:52927161 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.990+19T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV002099061]	Chr18:55261447 [GRCh38] Chr18:52928678 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1487-6C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV002155496]	Chr18:55232677 [GRCh38] Chr18:52899908 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1725C>T (p.Ala575=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002158037]	Chr18:55229001 [GRCh38] Chr18:52896232 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.186A>T (p.Gly62=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002156517]	Chr18:55464097 [GRCh38] Chr18:53131328 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.789+17C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV002122037]	Chr18:55275602 [GRCh38] Chr18:52942833 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1524T>C (p.Ser508=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002138171]	Chr18:55232634 [GRCh38] Chr18:52899865 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1880-13T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV002118662]	Chr18:55228374 [GRCh38] Chr18:52895605 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1487-14C>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV002202815]	Chr18:55232685 [GRCh38] Chr18:52899916 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1649+11A>G	single nucleotide variant	not specified [RCV004783492]	Chr18:55232498 [GRCh38] Chr18:52899729 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1565dup (p.Asn522fs)	duplication	not provided [RCV004787522]	Chr18:55232592..55232593 [GRCh38] Chr18:52899823..52899824 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1370A>G (p.Asp457Gly)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003115831]\|not provided [RCV003318750]	Chr18:55234664 [GRCh38] Chr18:52901895 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NC_000018.9:g.(?_52927160)_(53254347_?)del	deletion	Pitt-Hopkins syndrome [RCV003122505]	Chr18:52927160..53254347 [GRCh37] Chr18:18q21.2	pathogenic
NC_000018.9:g.(?_53017570)_(53254347_?)del	deletion	Pitt-Hopkins syndrome [RCV003122506]	Chr18:53017570..53254347 [GRCh37] Chr18:18q21.2	pathogenic
NC_000018.9:g.(?_53128230)_(53131388_?)del	deletion	Pitt-Hopkins syndrome [RCV003122507]	Chr18:53128230..53131388 [GRCh37] Chr18:18q21.2	pathogenic
NC_000018.9:g.(?_53017570)_(53070769_?)del	deletion	Pitt-Hopkins syndrome [RCV003122508]	Chr18:53017570..53070769 [GRCh37] Chr18:18q21.2	pathogenic
NC_000018.9:g.(?_52895456)_(53254347_?)del	deletion	Pitt-Hopkins syndrome [RCV003122509]	Chr18:52895456..53254347 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1144_1145del (p.Leu382fs)	deletion	not provided [RCV003123198]	Chr18:55257316..55257317 [GRCh38] Chr18:52924547..52924548 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1848C>A (p.Ala616=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003121607]	Chr18:55228878 [GRCh38] Chr18:52896109 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.291T>C (p.Asn97=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003121684]	Chr18:55461032 [GRCh38] Chr18:53128263 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1417_1418delinsT (p.Pro473fs)	indel	Pitt-Hopkins syndrome [RCV004797289]	Chr18:55234616..55234617 [GRCh38] Chr18:52901847..52901848 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1838A>G (p.Gln613Arg)	single nucleotide variant	Pitt-Hopkins syndrome [RCV004776533]	Chr18:55228888 [GRCh38] Chr18:52896119 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1420del (p.Val474fs)	deletion	Pitt-Hopkins syndrome [RCV004784995]	Chr18:55234614 [GRCh38] Chr18:52901845 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1424dup (p.Gln476fs)	duplication	Pitt-Hopkins syndrome [RCV004789872]	Chr18:55234609..55234610 [GRCh38] Chr18:52901840..52901841 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1879+1G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV002273054]	Chr18:55228846 [GRCh38] Chr18:52896077 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.327C>A (p.Tyr109Ter)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002246767]	Chr18:55403496 [GRCh38] Chr18:53070727 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.35C>T (p.Thr12Met)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005095981]\|Seizure [RCV002273870]	Chr18:55587082 [GRCh38] Chr18:53254313 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.1486G>A (p.Gly496Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002246765]	Chr18:55234548 [GRCh38] Chr18:52901779 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.593C>T (p.Ser198Leu)	single nucleotide variant	not provided [RCV002254078]	Chr18:55279613 [GRCh38] Chr18:52946844 [GRCh37] Chr18:18q21.2	uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	copy number gain	Trisomy 18 [RCV002280660]	Chr18:1..78077248 [GRCh37] Chr18:18p11.32-q23	pathogenic
NM_001083962.2(TCF4):c.990+3G>T	single nucleotide variant	not provided [RCV003129216]	Chr18:55261463 [GRCh38] Chr18:52928694 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1145T>C (p.Leu382Ser)	single nucleotide variant	Inborn genetic diseases [RCV004673868]\|not provided [RCV003233126]	Chr18:55257316 [GRCh38] Chr18:52924547 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1069+30A>G	single nucleotide variant	not provided [RCV002263124]	Chr18:55259919 [GRCh38] Chr18:52927150 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.1866G>C (p.Glu622Asp)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002273291]	Chr18:55228860 [GRCh38] Chr18:52896091 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1307G>C (p.Gly436Ala)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005096011]\|not provided [RCV002279034]	Chr18:55254540 [GRCh38] Chr18:52921771 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1069+1052G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV002285253]	Chr18:55258897 [GRCh38] Chr18:52926128 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1351-1G>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV002288341]	Chr18:55234684 [GRCh38] Chr18:52901915 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001243226.3(TCF4):c.286+1G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV002284996]	Chr18:55631297 [GRCh38] Chr18:53298528 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.923-11del	deletion	not provided [RCV002285799]	Chr18:55261544 [GRCh38] Chr18:52928775 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.549A>T (p.Ser183=)	single nucleotide variant	not provided [RCV002274688]	Chr18:55350359 [GRCh38] Chr18:53017590 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1112C>T (p.Ser371Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002471939]	Chr18:55257349 [GRCh38] Chr18:52924580 [GRCh37] Chr18:18q21.2	uncertain significance
GRCh37/hg19 18q21.2(chr18:51223984-53001044)x3	copy number gain	not provided [RCV002472441]	Chr18:51223984..53001044 [GRCh37] Chr18:18q21.2	uncertain significance
GRCh37/hg19 18q21.2(chr18:52023322-53332606)x1	copy number loss	Pitt-Hopkins syndrome [RCV002472353]	Chr18:52023322..53332606 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.107G>C (p.Gly36Ala)	single nucleotide variant	Inborn genetic diseases [RCV002417483]	Chr18:55585318 [GRCh38] Chr18:53252549 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1069+1G>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV002465448]	Chr18:55259948 [GRCh38] Chr18:52927179 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.387T>C (p.Gly129=)	single nucleotide variant	Inborn genetic diseases [RCV002357352]\|TCF4-related disorder [RCV003926371]	Chr18:55350986 [GRCh38] Chr18:53018217 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.82C>T (p.Pro28Ser)	single nucleotide variant	Inborn genetic diseases [RCV002430332]	Chr18:55585343 [GRCh38] Chr18:53252574 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1474G>C (p.Asp492His)	single nucleotide variant	not provided [RCV003231671]	Chr18:55234560 [GRCh38] Chr18:52901791 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.466C>T (p.Pro156Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002296044]	Chr18:55350907 [GRCh38] Chr18:53018138 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1056T>C (p.Pro352=)	single nucleotide variant	Inborn genetic diseases [RCV002399040]	Chr18:55259962 [GRCh38] Chr18:52927193 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.692G>A (p.Ser231Asn)	single nucleotide variant	Inborn genetic diseases [RCV002378126]	Chr18:55275716 [GRCh38] Chr18:52942947 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.242C>G (p.Thr81Ser)	single nucleotide variant	Inborn genetic diseases [RCV002450449]\|Pitt-Hopkins syndrome [RCV003098870]	Chr18:55461081 [GRCh38] Chr18:53128312 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.1399_1403del (p.Leu467fs)	deletion	Inborn genetic diseases [RCV002389166]	Chr18:55234631..55234635 [GRCh38] Chr18:52901862..52901866 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.496A>G (p.Met166Val)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002301752]	Chr18:55350877 [GRCh38] Chr18:53018108 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.991-1G>A	single nucleotide variant	Inborn genetic diseases [RCV002382813]	Chr18:55260028 [GRCh38] Chr18:52927259 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.146-6C>T	single nucleotide variant	not provided [RCV002305959]	Chr18:55464143 [GRCh38] Chr18:53131374 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.450G>A (p.Gln150=)	single nucleotide variant	Inborn genetic diseases [RCV002339898]	Chr18:55350923 [GRCh38] Chr18:53018154 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.569G>A (p.Ser190Asn)	single nucleotide variant	Inborn genetic diseases [RCV002347534]	Chr18:55279637 [GRCh38] Chr18:52946868 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1070-2A>G	single nucleotide variant	Inborn genetic diseases [RCV002413282]	Chr18:55257393 [GRCh38] Chr18:52924624 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1518CTC[1] (p.Ser508del)	microsatellite	Inborn genetic diseases [RCV002392426]	Chr18:55232635..55232637 [GRCh38] Chr18:52899866..52899868 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1303T>A (p.Ser435Thr)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002302359]	Chr18:55254544 [GRCh38] Chr18:52921775 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.710G>A (p.Gly237Asp)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002302382]	Chr18:55275698 [GRCh38] Chr18:52942929 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1142_1143del (p.Ser381fs)	microsatellite	Inborn genetic diseases [RCV002460210]	Chr18:55257318..55257319 [GRCh38] Chr18:52924549..52924550 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1166G>T (p.Arg389Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002302436]	Chr18:55254681 [GRCh38] Chr18:52921912 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.972G>A (p.Leu324=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002863332]	Chr18:55261484 [GRCh38] Chr18:52928715 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.939_947del (p.Ala314_Gly316del)	deletion	Pitt-Hopkins syndrome [RCV002881513]	Chr18:55261509..55261517 [GRCh38] Chr18:52928740..52928748 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.305-4G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV002994369]	Chr18:55403522 [GRCh38] Chr18:53070753 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.509C>T (p.Thr170Ile)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002730393]	Chr18:55350399 [GRCh38] Chr18:53017630 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1842G>C (p.Ala614=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003076554]	Chr18:55228884 [GRCh38] Chr18:52896115 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1944G>A (p.Glu648=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002734887]	Chr18:55228297 [GRCh38] Chr18:52895528 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.310A>G (p.Thr104Ala)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002819931]	Chr18:55403513 [GRCh38] Chr18:53070744 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.550-15G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV003073704]	Chr18:55279671 [GRCh38] Chr18:52946902 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1351-10G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV002903056]	Chr18:55234693 [GRCh38] Chr18:52901924 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1942G>C (p.Glu648Gln)	single nucleotide variant	Inborn genetic diseases [RCV002841298]	Chr18:55228299 [GRCh38] Chr18:52895530 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1374C>T (p.Gly458=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002613671]	Chr18:55234660 [GRCh38] Chr18:52901891 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.471A>G (p.Arg157=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003032771]	Chr18:55350902 [GRCh38] Chr18:53018133 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1879+10G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV002686383]	Chr18:55228837 [GRCh38] Chr18:52896068 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.979G>C (p.Ala327Pro)	single nucleotide variant	not provided [RCV002511399]	Chr18:55261477 [GRCh38] Chr18:52928708 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.2003T>G (p.Met668Arg)	single nucleotide variant	Inborn genetic diseases [RCV002687823]	Chr18:55228238 [GRCh38] Chr18:52895469 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.189A>G (p.Gly63=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003013928]	Chr18:55464094 [GRCh38] Chr18:53131325 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1007A>G (p.His336Arg)	single nucleotide variant	not provided [RCV002462418]	Chr18:55260011 [GRCh38] Chr18:52927242 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1105G>A (p.Ala369Thr)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002463402]	Chr18:55257356 [GRCh38] Chr18:52924587 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1952dup (p.Leu652fs)	duplication	Pitt-Hopkins syndrome [RCV002842393]	Chr18:55228288..55228289 [GRCh38] Chr18:52895519..52895520 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.550-22814A>G	single nucleotide variant	TCF4-related disorder [RCV004741298]\|not provided [RCV002511897]	Chr18:55302470 [GRCh38] Chr18:52969701 [GRCh37] Chr18:18q21.2	benign\|likely benign
NM_001083962.2(TCF4):c.1650-10T>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV002927799]	Chr18:55229086 [GRCh38] Chr18:52896317 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.196A>G (p.Ser66Gly)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002694972]	Chr18:55464087 [GRCh38] Chr18:53131318 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1665G>C (p.Glu555Asp)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002740323]	Chr18:55229061 [GRCh38] Chr18:52896292 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.369+4A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV002824378]	Chr18:55403450 [GRCh38] Chr18:53070681 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.789+15C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV002889842]	Chr18:55275604 [GRCh38] Chr18:52942835 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.604C>A (p.Pro202Thr)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002923776]	Chr18:55279602 [GRCh38] Chr18:52946833 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.781G>C (p.Glu261Gln)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003055628]	Chr18:55275627 [GRCh38] Chr18:52942858 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1460T>C (p.Leu487Pro)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003002835]	Chr18:55234574 [GRCh38] Chr18:52901805 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.798A>G (p.Pro266=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002923372]	Chr18:55269955 [GRCh38] Chr18:52937186 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.790A>T (p.Ser264Cys)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002825538]	Chr18:55269963 [GRCh38] Chr18:52937194 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1740G>C (p.Arg580=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002923070]	Chr18:55228986 [GRCh38] Chr18:52896217 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1674A>C (p.Thr558=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002659460]	Chr18:55229052 [GRCh38] Chr18:52896283 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.878C>A (p.Thr293Asn)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003054082]	Chr18:55269875 [GRCh38] Chr18:52937106 [GRCh37] Chr18:18q21.2	benign\|uncertain significance
NM_001083962.2(TCF4):c.1578G>C (p.Thr526=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003053722]	Chr18:55232580 [GRCh38] Chr18:52899811 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1069+20A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV002976586]	Chr18:55259929 [GRCh38] Chr18:52927160 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.2004G>A (p.Met668Ile)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003054661]	Chr18:55228237 [GRCh38] Chr18:52895468 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.604C>T (p.Pro202Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003035474]	Chr18:55279602 [GRCh38] Chr18:52946833 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.129A>T (p.Gly43=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002619527]	Chr18:55585296 [GRCh38] Chr18:53252527 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1062T>C (p.Ser354=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002695331]\|not specified [RCV003403890]	Chr18:55259956 [GRCh38] Chr18:52927187 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.81A>C (p.Ser27=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002867728]	Chr18:55585344 [GRCh38] Chr18:53252575 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1842G>A (p.Ala614=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003078265]	Chr18:55228884 [GRCh38] Chr18:52896115 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.666C>T (p.His222=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002948525]	Chr18:55275742 [GRCh38] Chr18:52942973 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.329C>T (p.Ser110Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002886710]	Chr18:55403494 [GRCh38] Chr18:53070725 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.776C>T (p.Pro259Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003018960]	Chr18:55275632 [GRCh38] Chr18:52942863 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.555T>A (p.Tyr185Ter)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002820850]	Chr18:55279651 [GRCh38] Chr18:52946882 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1147-3C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV002706126]	Chr18:55254703 [GRCh38] Chr18:52921934 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.207+8T>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV002735734]	Chr18:55464068 [GRCh38] Chr18:53131299 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1880-6C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV002948484]	Chr18:55228367 [GRCh38] Chr18:52895598 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.649A>G (p.Met217Val)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003053525]	Chr18:55279557 [GRCh38] Chr18:52946788 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1170A>G (p.Leu390=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002790968]	Chr18:55254677 [GRCh38] Chr18:52921908 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.634C>T (p.Pro212Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002828533]	Chr18:55279572 [GRCh38] Chr18:52946803 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.840_841insGAGAAAG (p.Ser281fs)	insertion	Pitt-Hopkins syndrome [RCV002790025]	Chr18:55269912..55269913 [GRCh38] Chr18:52937143..52937144 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1330G>C (p.Ala444Pro)	single nucleotide variant	Inborn genetic diseases [RCV005288806]\|Pitt-Hopkins syndrome [RCV002741559]	Chr18:55254517 [GRCh38] Chr18:52921748 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1288A>G (p.Met430Val)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002985529]	Chr18:55254559 [GRCh38] Chr18:52921790 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.879del (p.Ser294fs)	deletion	Pitt-Hopkins syndrome [RCV002508173]	Chr18:55269874 [GRCh38] Chr18:52937105 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.991-18del	deletion	Pitt-Hopkins syndrome [RCV002624931]	Chr18:55260045 [GRCh38] Chr18:52927276 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.1486+14A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV003005374]	Chr18:55234534 [GRCh38] Chr18:52901765 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.72+17G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV003041033]	Chr18:55587028 [GRCh38] Chr18:53254259 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1503A>G (p.Leu501=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003024425]\|not provided [RCV003456541]	Chr18:55232655 [GRCh38] Chr18:52899886 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1802G>T (p.Ser601Ile)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003005151]	Chr18:55228924 [GRCh38] Chr18:52896155 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1107C>T (p.Ala369=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003023376]	Chr18:55257354 [GRCh38] Chr18:52924585 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.93C>T (p.Ser31=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003040836]	Chr18:55585332 [GRCh38] Chr18:53252563 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1099G>A (p.Gly367Arg)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003024873]	Chr18:55257362 [GRCh38] Chr18:52924593 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1133C>G (p.Pro378Arg)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002745248]	Chr18:55257328 [GRCh38] Chr18:52924559 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.305-3C>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV002875665]	Chr18:55403521 [GRCh38] Chr18:53070752 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.370-18C>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV003009281]	Chr18:55351021 [GRCh38] Chr18:53018252 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.550-20dup	duplication	Pitt-Hopkins syndrome [RCV003044534]	Chr18:55279675..55279676 [GRCh38] Chr18:52946906..52946907 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.84T>G (p.Pro28=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002646633]	Chr18:55585341 [GRCh38] Chr18:53252572 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.715G>A (p.Ala239Thr)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003091829]	Chr18:55275693 [GRCh38] Chr18:52942924 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.854G>A (p.Arg285His)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003049275]	Chr18:55269899 [GRCh38] Chr18:52937130 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.913A>G (p.Ser305Gly)	single nucleotide variant	Inborn genetic diseases [RCV002719286]\|Pitt-Hopkins syndrome [RCV005099607]	Chr18:55269840 [GRCh38] Chr18:52937071 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.624C>T (p.Thr208=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002651195]	Chr18:55279582 [GRCh38] Chr18:52946813 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1867C>T (p.Gln623Ter)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003064520]	Chr18:55228859 [GRCh38] Chr18:52896090 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.585T>C (p.Asn195=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002714847]	Chr18:55279621 [GRCh38] Chr18:52946852 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.327C>T (p.Tyr109=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002791969]	Chr18:55403496 [GRCh38] Chr18:53070727 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1628C>T (p.Ser543Leu)	single nucleotide variant	Inborn genetic diseases [RCV002808945]	Chr18:55232530 [GRCh38] Chr18:52899761 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1660G>A (p.Asp554Asn)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003028851]	Chr18:55229066 [GRCh38] Chr18:52896297 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.550-20_550-17del	deletion	Pitt-Hopkins syndrome [RCV003088180]	Chr18:55279673..55279676 [GRCh38] Chr18:52946904..52946907 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.923-1G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV002899371]	Chr18:55261534 [GRCh38] Chr18:52928765 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.922+20A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV002629052]	Chr18:55269811 [GRCh38] Chr18:52937042 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.414C>A (p.Thr138=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003030929]	Chr18:55350959 [GRCh38] Chr18:53018190 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.146-11C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV002966472]	Chr18:55464148 [GRCh38] Chr18:53131379 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.478C>G (p.Pro160Ala)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003091177]	Chr18:55350895 [GRCh38] Chr18:53018126 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1976C>T (p.Pro659Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002811049]	Chr18:55228265 [GRCh38] Chr18:52895496 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.991-11A>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV002601406]	Chr18:55260038 [GRCh38] Chr18:52927269 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.370-17C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV003064947]	Chr18:55351020 [GRCh38] Chr18:53018251 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.110C>T (p.Pro37Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002716844]	Chr18:55585315 [GRCh38] Chr18:53252546 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.215G>C (p.Gly72Ala)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002645870]	Chr18:55461108 [GRCh38] Chr18:53128339 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.543A>C (p.Pro181=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002899548]	Chr18:55350365 [GRCh38] Chr18:53017596 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.320G>C (p.Gly107Ala)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003046915]	Chr18:55403503 [GRCh38] Chr18:53070734 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.452A>C (p.Tyr151Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003047017]	Chr18:55350921 [GRCh38] Chr18:53018152 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1144_1145insC (p.Leu382fs)	insertion	Pitt-Hopkins syndrome [RCV002810047]	Chr18:55257316..55257317 [GRCh38] Chr18:52924547..52924548 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.550-6C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV002597403]	Chr18:55279662 [GRCh38] Chr18:52946893 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1734T>C (p.Arg578=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002806504]	Chr18:55228992 [GRCh38] Chr18:52896223 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.684C>T (p.Ser228=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003032186]	Chr18:55275724 [GRCh38] Chr18:52942955 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1487-14C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV003066310]	Chr18:55232685 [GRCh38] Chr18:52899916 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.500-13C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV003067976]	Chr18:55350421 [GRCh38] Chr18:53017652 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.369+17G>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV003052271]	Chr18:55403437 [GRCh38] Chr18:53070668 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1263C>T (p.Ile421=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV002606704]	Chr18:55254584 [GRCh38] Chr18:52921815 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1896G>C (p.Pro632=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003071950]	Chr18:55228345 [GRCh38] Chr18:52895576 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.146-13C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV002603133]	Chr18:55464150 [GRCh38] Chr18:53131381 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1739G>T (p.Arg580Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV004796418]	Chr18:55228987 [GRCh38] Chr18:52896218 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.119T>C (p.Leu40Ser)	single nucleotide variant	Inborn genetic diseases [RCV003209200]	Chr18:55585306 [GRCh38] Chr18:53252537 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.784_785insCA (p.Arg262fs)	insertion	Pitt-Hopkins syndrome [RCV003223537]	Chr18:55275623..55275624 [GRCh38] Chr18:52942854..52942855 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.898del (p.Ala300fs)	deletion	not provided [RCV003131709]	Chr18:55269855 [GRCh38] Chr18:52937086 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.959C>T (p.Thr320Ile)	single nucleotide variant	not provided [RCV003140942]	Chr18:55261497 [GRCh38] Chr18:52928728 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1207_1208delinsAT (p.His403Ile)	indel	not provided [RCV003140943]	Chr18:55254639..55254640 [GRCh38] Chr18:52921870..52921871 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1061C>G (p.Ser354Cys)	single nucleotide variant	Inborn genetic diseases [RCV003186583]	Chr18:55259957 [GRCh38] Chr18:52927188 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.345A>T (p.Glu115Asp)	single nucleotide variant	not provided [RCV003229347]	Chr18:55403478 [GRCh38] Chr18:53070709 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1789C>G (p.Leu597Val)	single nucleotide variant	not provided [RCV003227315]	Chr18:55228937 [GRCh38] Chr18:52896168 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.497T>C (p.Met166Thr)	single nucleotide variant	not provided [RCV003227392]	Chr18:55350876 [GRCh38] Chr18:53018107 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.443A>T (p.Tyr148Phe)	single nucleotide variant	not provided [RCV003321262]	Chr18:55350930 [GRCh38] Chr18:53018161 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1608C>G (p.Asp536Glu)	single nucleotide variant	not provided [RCV003319868]	Chr18:55232550 [GRCh38] Chr18:52899781 [GRCh37] Chr18:18q21.2	likely benign\|uncertain significance
NM_001083962.2(TCF4):c.1017C>G (p.Asn339Lys)	single nucleotide variant	not provided [RCV005367974]	Chr18:55260001 [GRCh38] Chr18:52927232 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.655+54C>T	single nucleotide variant	not provided [RCV003322141]	Chr18:55279497 [GRCh38] Chr18:52946728 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2:c.304+24622_369+779del	deletion	Pitt-Hopkins syndrome [RCV003330244]		pathogenic
NM_001083962.2(TCF4):c.305-102G>A	single nucleotide variant	not provided [RCV003326986]	Chr18:55403620 [GRCh38] Chr18:53070851 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.655G>C (p.Asp219His)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003334374]	Chr18:55279551 [GRCh38] Chr18:52946782 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_003199.2(TCF4):c.-312dup	duplication	not provided [RCV003421649]	Chr18:55588322..55588323 [GRCh38] Chr18:53255553..53255554 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.305-18943A>G	single nucleotide variant	not provided [RCV003423091]	Chr18:55422461 [GRCh38] Chr18:53089692 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.633C>G (p.Phe211Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003778317]\|TCF4-related disorder [RCV003419256]	Chr18:55279573 [GRCh38] Chr18:52946804 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.775_776dup (p.Glu261fs)	duplication	Corneal dystrophy, Fuchs endothelial, 3 [RCV003445349]	Chr18:55275631..55275632 [GRCh38] Chr18:52942862..52942863 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.549+28682G>A	single nucleotide variant	not provided [RCV003457002]	Chr18:55321677 [GRCh38] Chr18:52988908 [GRCh37] Chr18:18q21.2	uncertain significance
GRCh37/hg19 18q21.2(chr18:51003914-53456476)x3	copy number gain	not provided [RCV003485185]	Chr18:51003914..53456476 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1763del (p.Phe588fs)	deletion	TCF4-related disorder [RCV003402161]	Chr18:55228963 [GRCh38] Chr18:52896194 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1056T>A (p.Pro352=)	single nucleotide variant	not provided [RCV003423090]	Chr18:55259962 [GRCh38] Chr18:52927193 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1057C>A (p.Pro353Thr)	single nucleotide variant	not provided [RCV003429155]	Chr18:55259961 [GRCh38] Chr18:52927192 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.498G>A (p.Met166Ile)	single nucleotide variant	not provided [RCV003443840]	Chr18:55350875 [GRCh38] Chr18:53018106 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.415C>G (p.Leu139Val)	single nucleotide variant	TCF4-related disorder [RCV003391256]	Chr18:55350958 [GRCh38] Chr18:53018189 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1238del (p.Gly413fs)	deletion	TCF4-related disorder [RCV003399861]	Chr18:55254609 [GRCh38] Chr18:52921840 [GRCh37] Chr18:18q21.2	pathogenic
NM_001243226.3(TCF4):c.114A>G (p.Ser38=)	single nucleotide variant	not provided [RCV003421650]	Chr18:55635784 [GRCh38] Chr18:53303015 [GRCh37] Chr18:18q21.2	likely benign
NM_001243226.3(TCF4):c.187C>T (p.Pro63Ser)	single nucleotide variant	not provided [RCV003423092]	Chr18:55635711 [GRCh38] Chr18:53302942 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1912A>G (p.Lys638Glu)	single nucleotide variant	not provided [RCV003443613]	Chr18:55228329 [GRCh38] Chr18:52895560 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1487-2A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV003448634]	Chr18:55232673 [GRCh38] Chr18:52899904 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1525G>A (p.Gly509Ser)	single nucleotide variant	TCF4-related disorder [RCV003416714]	Chr18:55232633 [GRCh38] Chr18:52899864 [GRCh37] Chr18:18q21.2	uncertain significance
Single allele	deletion	not provided [RCV003448705]	Chr18:53218644..54488400 [GRCh37] Chr18:18q21.2-21.31	pathogenic
NM_001083962.2(TCF4):c.320G>T (p.Gly107Val)	single nucleotide variant	TCF4-related disorder [RCV003402340]	Chr18:55403503 [GRCh38] Chr18:53070734 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001243226.3(TCF4):c.102A>G (p.Glu34=)	single nucleotide variant	not provided [RCV003423093]	Chr18:55635796 [GRCh38] Chr18:53303027 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.304+1G>A	single nucleotide variant	not provided [RCV003442342]	Chr18:55461018 [GRCh38] Chr18:53128249 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.*266C>G	single nucleotide variant	not provided [RCV003413455]	Chr18:55227769 [GRCh38] Chr18:52895000 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.369+1365del	deletion	not provided [RCV003413456]	Chr18:55402089 [GRCh38] Chr18:53069320 [GRCh37] Chr18:18q21.2	benign
NM_001083962.2(TCF4):c.1476C>A (p.Asp492Glu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003508403]\|not provided [RCV004794647]	Chr18:55234558 [GRCh38] Chr18:52901789 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1756G>A (p.Glu586Lys)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003508734]	Chr18:55228970 [GRCh38] Chr18:52896201 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.499+18T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV003508843]	Chr18:55350856 [GRCh38] Chr18:53018087 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.500-16C>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV003508886]	Chr18:55350424 [GRCh38] Chr18:53017655 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1420G>C (p.Val474Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003507538]	Chr18:55234614 [GRCh38] Chr18:52901845 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.117T>C (p.Ser39=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003507687]	Chr18:55585308 [GRCh38] Chr18:53252539 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.802C>T (p.His268Tyr)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003507818]	Chr18:55269951 [GRCh38] Chr18:52937182 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.975G>A (p.Gly325=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003507521]	Chr18:55261481 [GRCh38] Chr18:52928712 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.299T>A (p.Ile100Lys)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003508414]	Chr18:55461024 [GRCh38] Chr18:53128255 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.499+12C>G	single nucleotide variant	not specified [RCV003489556]	Chr18:55350862 [GRCh38] Chr18:53018093 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1736T>C (p.Leu579Pro)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003507653]	Chr18:55228990 [GRCh38] Chr18:52896221 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.922+12A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV003507597]	Chr18:55269819 [GRCh38] Chr18:52937050 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1785G>A (p.Val595=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003876306]	Chr18:55228941 [GRCh38] Chr18:52896172 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.550-20A>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV003507881]	Chr18:55279676 [GRCh38] Chr18:52946907 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.789+9G>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV003508233]	Chr18:55275610 [GRCh38] Chr18:52942841 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.306_307del (p.Ser102fs)	deletion	Pitt-Hopkins syndrome [RCV003883361]	Chr18:55403516..55403517 [GRCh38] Chr18:53070747..53070748 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.552C>G (p.Val184=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003506920]	Chr18:55279654 [GRCh38] Chr18:52946885 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.370-3T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV003508798]	Chr18:55351006 [GRCh38] Chr18:53018237 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1351G>C (p.Val451Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003507144]	Chr18:55234683 [GRCh38] Chr18:52901914 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1138C>T (p.His380Tyr)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003508127]	Chr18:55257323 [GRCh38] Chr18:52924554 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.73-16T>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV003508162]	Chr18:55585368 [GRCh38] Chr18:53252599 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.723G>A (p.Met241Ile)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003506826]	Chr18:55275685 [GRCh38] Chr18:52942916 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.708T>C (p.Pro236=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003507533]	Chr18:55275700 [GRCh38] Chr18:52942931 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1730A>G (p.Glu577Gly)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003507060]	Chr18:55228996 [GRCh38] Chr18:52896227 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1422del (p.Pro475fs)	deletion	Pitt-Hopkins syndrome [RCV003507537]	Chr18:55234612 [GRCh38] Chr18:52901843 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.207+16C>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV003508601]	Chr18:55464060 [GRCh38] Chr18:53131291 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.923-20T>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV003508553]	Chr18:55261553 [GRCh38] Chr18:52928784 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1417C>G (p.Pro473Ala)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003507089]	Chr18:55234617 [GRCh38] Chr18:52901848 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1508G>T (p.Gly503Val)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003508411]	Chr18:55232650 [GRCh38] Chr18:52899881 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1463A>G (p.Asn488Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003508530]	Chr18:55234571 [GRCh38] Chr18:52901802 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.118T>C (p.Leu40=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003508656]	Chr18:55585307 [GRCh38] Chr18:53252538 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.72+8A>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV003507922]	Chr18:55587037 [GRCh38] Chr18:53254268 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.710_711insT (p.Tyr238fs)	insertion	Pitt-Hopkins syndrome [RCV003883370]	Chr18:55275697..55275698 [GRCh38] Chr18:52942928..52942929 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.930A>G (p.Arg310=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003507596]	Chr18:55261526 [GRCh38] Chr18:52928757 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1833C>G (p.Leu611=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003508226]	Chr18:55228893 [GRCh38] Chr18:52896124 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1585del (p.Ser529fs)	deletion	Pitt-Hopkins syndrome [RCV003507882]	Chr18:55232573 [GRCh38] Chr18:52899804 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1234C>T (p.Pro412Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003508260]	Chr18:55254613 [GRCh38] Chr18:52921844 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.941C>T (p.Ala314Val)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003508033]	Chr18:55261515 [GRCh38] Chr18:52928746 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1351-10G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV003508409]	Chr18:55234693 [GRCh38] Chr18:52901924 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.500-11T>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV003506851]	Chr18:55350419 [GRCh38] Chr18:53017650 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.991-18T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV003617777]	Chr18:55260045 [GRCh38] Chr18:52927276 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1069+8A>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618107]	Chr18:55259941 [GRCh38] Chr18:52927172 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.2015A>G (p.Ter672=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618202]	Chr18:55228226 [GRCh38] Chr18:52895457 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.73-20T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618545]	Chr18:55585372 [GRCh38] Chr18:53252603 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1363C>T (p.Arg455Cys)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618784]	Chr18:55234671 [GRCh38] Chr18:52901902 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.817A>G (p.Ile273Val)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618915]	Chr18:55269936 [GRCh38] Chr18:52937167 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.304A>T (p.Ser102Cys)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003619090]	Chr18:55461019 [GRCh38] Chr18:53128250 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.386G>A (p.Gly129Asp)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003617408]	Chr18:55350987 [GRCh38] Chr18:53018218 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.345A>G (p.Glu115=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618243]	Chr18:55403478 [GRCh38] Chr18:53070709 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1337_1340del (p.Arg446fs)	deletion	Pitt-Hopkins syndrome [RCV003618376]	Chr18:55254507..55254510 [GRCh38] Chr18:52921738..52921741 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.844A>G (p.Thr282Ala)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618914]	Chr18:55269909 [GRCh38] Chr18:52937140 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1239_1246del (p.Gly416fs)	deletion	Pitt-Hopkins syndrome [RCV003618362]	Chr18:55254601..55254608 [GRCh38] Chr18:52921832..52921839 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.208-13A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV003617599]	Chr18:55461128 [GRCh38] Chr18:53128359 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1621A>T (p.Ile541Phe)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618459]	Chr18:55232537 [GRCh38] Chr18:52899768 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.414C>T (p.Thr138=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618517]	Chr18:55350959 [GRCh38] Chr18:53018190 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1134C>G (p.Pro378=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003617356]	Chr18:55257327 [GRCh38] Chr18:52924558 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1879+4A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV003617724]	Chr18:55228843 [GRCh38] Chr18:52896074 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.259T>C (p.Ser87Pro)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618586]	Chr18:55461064 [GRCh38] Chr18:53128295 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.180G>A (p.Gly60=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003617775]	Chr18:55464103 [GRCh38] Chr18:53131334 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1951C>A (p.Pro651Thr)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618588]	Chr18:55228290 [GRCh38] Chr18:52895521 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1206C>T (p.Asn402=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618125]	Chr18:55254641 [GRCh38] Chr18:52921872 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.21G>A (p.Met7Ile)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618163]	Chr18:55587096 [GRCh38] Chr18:53254327 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.263A>G (p.His88Arg)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003856457]	Chr18:55461060 [GRCh38] Chr18:53128291 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1694G>A (p.Arg565His)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618742]	Chr18:55229032 [GRCh38] Chr18:52896263 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1013A>G (p.Asn338Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618745]\|not provided [RCV004823183]	Chr18:55260005 [GRCh38] Chr18:52927236 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.925A>G (p.Asn309Asp)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618460]	Chr18:55261531 [GRCh38] Chr18:52928762 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1593C>T (p.Asp531=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618966]\|not provided [RCV004703329]	Chr18:55232565 [GRCh38] Chr18:52899796 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.73A>T (p.Met25Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003617428]	Chr18:55585352 [GRCh38] Chr18:53252583 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1770G>T (p.Glu590Asp)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003617300]	Chr18:55228956 [GRCh38] Chr18:52896187 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.499+5_499+6dup	duplication	Pitt-Hopkins syndrome [RCV003618766]	Chr18:55350867..55350868 [GRCh38] Chr18:53018098..53018099 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.359G>A (p.Gly120Asp)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618516]	Chr18:55403464 [GRCh38] Chr18:53070695 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.31G>C (p.Gly11Arg)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618539]	Chr18:55587086 [GRCh38] Chr18:53254317 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.146-1G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV003617394]	Chr18:55464138 [GRCh38] Chr18:53131369 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1356G>T (p.Gly452=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003617457]	Chr18:55234678 [GRCh38] Chr18:52901909 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1038A>T (p.Ser346=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618849]	Chr18:55259980 [GRCh38] Chr18:52927211 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1360C>T (p.His454Tyr)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003617638]	Chr18:55234674 [GRCh38] Chr18:52901905 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.789G>A (p.Leu263=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618144]	Chr18:55275619 [GRCh38] Chr18:52942850 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.374G>A (p.Ser125Asn)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618145]	Chr18:55350999 [GRCh38] Chr18:53018230 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.747A>G (p.Pro249=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003617700]	Chr18:55275661 [GRCh38] Chr18:52942892 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1524T>A (p.Ser508=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003619071]	Chr18:55232634 [GRCh38] Chr18:52899865 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1080T>C (p.Ala360=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618214]	Chr18:55257381 [GRCh38] Chr18:52924612 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.41_62del (p.Lys14fs)	deletion	Pitt-Hopkins syndrome [RCV003618256]	Chr18:55587055..55587076 [GRCh38] Chr18:53254286..53254307 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.699G>A (p.Met233Ile)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618870]	Chr18:55275709 [GRCh38] Chr18:52942940 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.499+15T>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618871]	Chr18:55350859 [GRCh38] Chr18:53018090 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.145+18T>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618615]	Chr18:55585262 [GRCh38] Chr18:53252493 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.72+12C>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618618]	Chr18:55587033 [GRCh38] Chr18:53254264 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.990+16C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618335]	Chr18:55261450 [GRCh38] Chr18:52928681 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1649+9A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV003617676]	Chr18:55232500 [GRCh38] Chr18:52899731 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1650-7C>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV003617723]	Chr18:55229083 [GRCh38] Chr18:52896314 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.347C>T (p.Ser116Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618706]	Chr18:55403476 [GRCh38] Chr18:53070707 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1583C>A (p.Ser528Tyr)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003618714]	Chr18:55232575 [GRCh38] Chr18:52899806 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1578G>A (p.Thr526=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003865627]	Chr18:55232580 [GRCh38] Chr18:52899811 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.160A>T (p.Ser54Cys)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003870586]\|not provided [RCV005235738]	Chr18:55464123 [GRCh38] Chr18:53131354 [GRCh37] Chr18:18q21.2	uncertain significance
GRCh37/hg19 18q21.2(chr18:53089162-53292031)x1	copy number loss	not specified [RCV003986101]	Chr18:53089162..53292031 [GRCh37] Chr18:18q21.2	pathogenic
GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1	copy number loss	not specified [RCV003986103]	Chr18:48766173..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q21.2(chr18:52978878-53100587)x1	copy number loss	not specified [RCV003987281]	Chr18:52978878..53100587 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.655+16T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV003864811]	Chr18:55279535 [GRCh38] Chr18:52946766 [GRCh37] Chr18:18q21.2	likely benign
GRCh37/hg19 18q21.2(chr18:52903599-53084300)x1	copy number loss	not specified [RCV003987277]	Chr18:52903599..53084300 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.500-12A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV003860785]	Chr18:55350420 [GRCh38] Chr18:53017651 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.369+17G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV003864386]	Chr18:55403437 [GRCh38] Chr18:53070668 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.201G>T (p.Pro67=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003840949]	Chr18:55464082 [GRCh38] Chr18:53131313 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.655+20G>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV003842554]	Chr18:55279531 [GRCh38] Chr18:52946762 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1696G>A (p.Glu566Lys)	single nucleotide variant	TCF4-related disorder [RCV003899024]	Chr18:55229030 [GRCh38] Chr18:52896261 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1134del (p.Leu379fs)	deletion	not provided [RCV003993354]	Chr18:55257327 [GRCh38] Chr18:52924558 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.831del (p.Pro278fs)	deletion	Pitt-Hopkins syndrome [RCV003989455]	Chr18:55269922 [GRCh38] Chr18:52937153 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1534G>T (p.Glu512Ter)	single nucleotide variant	Pitt-Hopkins syndrome [RCV003990256]	Chr18:55232624 [GRCh38] Chr18:52899855 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.305-103C>A	single nucleotide variant	TCF4-related disorder [RCV003929416]	Chr18:55403621 [GRCh38] Chr18:53070852 [GRCh37] Chr18:18q21.2	likely benign
NM_001243226.3(TCF4):c.287-1404G>A	single nucleotide variant	TCF4-related disorder [RCV003942282]	Chr18:55588540 [GRCh38] Chr18:53255771 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.537T>A (p.Gly179=)	single nucleotide variant	TCF4-related disorder [RCV003899228]	Chr18:55350371 [GRCh38] Chr18:53017602 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.550-22790A>G	single nucleotide variant	TCF4-related disorder [RCV003921451]	Chr18:55302446 [GRCh38] Chr18:52969677 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.237C>G (p.His79Gln)	single nucleotide variant	Inborn genetic diseases [RCV004466484]	Chr18:55461086 [GRCh38] Chr18:53128317 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.991-5T>A	single nucleotide variant	Inborn genetic diseases [RCV004466487]	Chr18:55260032 [GRCh38] Chr18:52927263 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.305-150G>A	single nucleotide variant	not provided [RCV004585345]	Chr18:55403668 [GRCh38] Chr18:53070899 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1706G>A (p.Arg569Gln)	single nucleotide variant	Pitt-Hopkins syndrome [RCV004555124]\|not provided [RCV005429474]	Chr18:55229020 [GRCh38] Chr18:52896251 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1551dup (p.Glu518fs)	duplication	Inborn genetic diseases [RCV004466483]	Chr18:55232606..55232607 [GRCh38] Chr18:52899837..52899838 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.505C>T (p.Gln169Ter)	single nucleotide variant	Inborn genetic diseases [RCV004466485]\|not provided [RCV004719408]	Chr18:55350403 [GRCh38] Chr18:53017634 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.633_634insAAAA (p.Pro212fs)	insertion	Inborn genetic diseases [RCV004466486]	Chr18:55279572..55279573 [GRCh38] Chr18:52946803..52946804 [GRCh37] Chr18:18q21.2	pathogenic
NC_000018.9:g.(?_52921708)_(53254347_?)del	deletion	Pitt-Hopkins syndrome [RCV004579815]	Chr18:52921708..53254347 [GRCh37] Chr18:18q21.2	pathogenic
NC_000018.9:g.(?_53017570)_(53131388_?)del	deletion	Pitt-Hopkins syndrome [RCV004579816]	Chr18:53017570..53131388 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1609del (p.Asp537fs)	deletion	not provided [RCV004698162]	Chr18:55232549 [GRCh38] Chr18:52899780 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1915dup (p.Arg639fs)	duplication	Pitt-Hopkins syndrome [RCV004666682]	Chr18:55228325..55228326 [GRCh38] Chr18:52895556..52895557 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.891del (p.Pro298fs)	deletion	Pitt-Hopkins syndrome [RCV004595258]	Chr18:55269862 [GRCh38] Chr18:52937093 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1650-3C>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV004595261]	Chr18:55229079 [GRCh38] Chr18:52896310 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.952del (p.Ser318fs)	deletion	not provided [RCV004697463]	Chr18:55261504 [GRCh38] Chr18:52928735 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1473G>C (p.Gln491His)	single nucleotide variant	Inborn genetic diseases [RCV004673637]	Chr18:55234561 [GRCh38] Chr18:52901792 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.317G>C (p.Arg106Thr)	single nucleotide variant	not provided [RCV004724149]	Chr18:55403506 [GRCh38] Chr18:53070737 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.256G>A (p.Gly86Arg)	single nucleotide variant	TCF4-related disorder [RCV004740845]	Chr18:55461067 [GRCh38] Chr18:53128298 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.328T>C (p.Ser110Pro)	single nucleotide variant	not provided [RCV004770772]	Chr18:55403495 [GRCh38] Chr18:53070726 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.533C>T (p.Pro178Leu)	single nucleotide variant	not provided [RCV004770818]	Chr18:55350375 [GRCh38] Chr18:53017606 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1669_1670delinsGG (p.Leu557Gly)	indel	not provided [RCV004766156]	Chr18:55229056..55229057 [GRCh38] Chr18:52896287..52896288 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.88G>T (p.Val30Leu)	single nucleotide variant	not provided [RCV004768204]	Chr18:55585337 [GRCh38] Chr18:53252568 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1778G>T (p.Arg593Leu)	single nucleotide variant	not provided [RCV004781081]	Chr18:55228948 [GRCh38] Chr18:52896179 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1775del (p.Gly592fs)	deletion	not provided [RCV004811061]	Chr18:55228951 [GRCh38] Chr18:52896182 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1719C>A (p.Asn573Lys)	single nucleotide variant	not specified [RCV004702988]	Chr18:55229007 [GRCh38] Chr18:52896238 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.-448T>G	single nucleotide variant	not specified [RCV004771445]	Chr18:55588465 [GRCh38] Chr18:53255696 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.721A>C (p.Met241Leu)	single nucleotide variant	not provided [RCV004762299]	Chr18:55275687 [GRCh38] Chr18:52942918 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1469C>T (p.Pro490Leu)	single nucleotide variant	not provided [RCV004762782]	Chr18:55234565 [GRCh38] Chr18:52901796 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1051T>A (p.Ser351Thr)	single nucleotide variant	not provided [RCV004772812]	Chr18:55259967 [GRCh38] Chr18:52927198 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1688C>T (p.Ala563Val)	single nucleotide variant	not provided [RCV004773326]	Chr18:55229038 [GRCh38] Chr18:52896269 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.688T>A (p.Ser230Thr)	single nucleotide variant	Pitt-Hopkins syndrome [RCV004764347]	Chr18:55275720 [GRCh38] Chr18:52942951 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1745G>C (p.Arg582Pro)	single nucleotide variant	Pitt-Hopkins syndrome [RCV004765103]	Chr18:55228981 [GRCh38] Chr18:52896212 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1166G>A (p.Arg389His)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005104914]\|not provided [RCV004762737]	Chr18:55254681 [GRCh38] Chr18:52921912 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.370-1G>A	single nucleotide variant	not provided [RCV004729347]	Chr18:55351004 [GRCh38] Chr18:53018235 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1753A>G (p.Asn585Asp)	single nucleotide variant	not provided [RCV004702080]	Chr18:55228973 [GRCh38] Chr18:52896204 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1236del (p.Gly413fs)	deletion	TCF4-related disorder [RCV004729877]	Chr18:55254611 [GRCh38] Chr18:52921842 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.85C>T (p.Pro29Ser)	single nucleotide variant	not provided [RCV004774066]	Chr18:55585340 [GRCh38] Chr18:53252571 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1901C>T (p.Ala634Val)	single nucleotide variant	not provided [RCV005052573]	Chr18:55228340 [GRCh38] Chr18:52895571 [GRCh37] Chr18:18q21.2	uncertain significance
GRCh37/hg19 18q11.2-23(chr18:19309942-78014123)x3	copy number gain	not provided [RCV004819319]	Chr18:19309942..78014123 [GRCh37] Chr18:18q11.2-23	pathogenic
NM_001083962.2(TCF4):c.1793A>G (p.His598Arg)	single nucleotide variant	not provided [RCV004820562]	Chr18:55228933 [GRCh38] Chr18:52896164 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.804C>G (p.His268Gln)	single nucleotide variant	Inborn genetic diseases [RCV004971480]	Chr18:55269949 [GRCh38] Chr18:52937180 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.980C>A (p.Ala327Glu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV004820970]	Chr18:55261476 [GRCh38] Chr18:52928707 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1649+6A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV005026279]	Chr18:55232503 [GRCh38] Chr18:52899734 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.2004G>T (p.Met668Ile)	single nucleotide variant	Inborn genetic diseases [RCV004971481]	Chr18:55228237 [GRCh38] Chr18:52895468 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1714G>C (p.Ala572Pro)	single nucleotide variant	not provided [RCV004823637]	Chr18:55229012 [GRCh38] Chr18:52896243 [GRCh37] Chr18:18q21.2	likely pathogenic\|uncertain significance
NM_001083962.2(TCF4):c.1031A>G (p.Asn344Ser)	single nucleotide variant	Inborn genetic diseases [RCV004971479]	Chr18:55259987 [GRCh38] Chr18:52927218 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1351-11C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV005064626]	Chr18:55234694 [GRCh38] Chr18:52901925 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1491G>A (p.Met497Ile)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005171323]	Chr18:55232667 [GRCh38] Chr18:52899898 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1495C>G (p.Pro499Ala)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005170030]	Chr18:55232663 [GRCh38] Chr18:52899894 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.376C>T (p.Leu126Phe)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005105970]	Chr18:55350997 [GRCh38] Chr18:53018228 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.705G>C (p.Gln235His)	single nucleotide variant	not provided [RCV005054917]	Chr18:55275703 [GRCh38] Chr18:52942934 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.146-17T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV005060230]	Chr18:55464154 [GRCh38] Chr18:53131385 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.45G>A (p.Glu15=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005170795]	Chr18:55587072 [GRCh38] Chr18:53254303 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1732C>A (p.Arg578Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005195091]	Chr18:55228994 [GRCh38] Chr18:52896225 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1754A>T (p.Asn585Ile)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005133895]	Chr18:55228972 [GRCh38] Chr18:52896203 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1256A>G (p.His419Arg)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005201678]	Chr18:55254591 [GRCh38] Chr18:52921822 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.830T>G (p.Leu277Arg)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005122209]	Chr18:55269923 [GRCh38] Chr18:52937154 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1712T>G (p.Met571Arg)	single nucleotide variant	not provided [RCV005250640]	Chr18:55229014 [GRCh38] Chr18:52896245 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1758G>A (p.Glu586=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005148667]	Chr18:55228968 [GRCh38] Chr18:52896199 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.489T>A (p.Ser163Arg)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005114680]	Chr18:55350884 [GRCh38] Chr18:53018115 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.914G>A (p.Ser305Asn)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005079877]	Chr18:55269839 [GRCh38] Chr18:52937070 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.641C>A (p.Ser214Tyr)	single nucleotide variant	not provided [RCV005250758]	Chr18:55279565 [GRCh38] Chr18:52946796 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.128G>T (p.Gly43Val)	single nucleotide variant	not specified [RCV005240059]	Chr18:55585297 [GRCh38] Chr18:53252528 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.253C>G (p.Leu85Val)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005114681]	Chr18:55461070 [GRCh38] Chr18:53128301 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.19A>G (p.Met7Val)	single nucleotide variant	not provided [RCV005236361]	Chr18:55587098 [GRCh38] Chr18:53254329 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1879+19C>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV005183992]	Chr18:55228828 [GRCh38] Chr18:52896059 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1880-1G>A	single nucleotide variant	not provided [RCV005367918]	Chr18:55228362 [GRCh38] Chr18:52895593 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.856del (p.Ser286fs)	deletion	Pitt-Hopkins syndrome [RCV005232620]	Chr18:55269897 [GRCh38] Chr18:52937128 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.474G>A (p.Arg158=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005118761]	Chr18:55350899 [GRCh38] Chr18:53018130 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1147-6C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV005198514]	Chr18:55254706 [GRCh38] Chr18:52921937 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1065C>G (p.Leu355=)	single nucleotide variant	not provided [RCV005243032]	Chr18:55259953 [GRCh38] Chr18:52927184 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.305-14G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV005119472]	Chr18:55403532 [GRCh38] Chr18:53070763 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1896G>A (p.Pro632=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005191425]	Chr18:55228345 [GRCh38] Chr18:52895576 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1243_1265dup (p.Gly423fs)	duplication	not provided [RCV005242887]	Chr18:55254581..55254582 [GRCh38] Chr18:52921812..52921813 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.180G>T (p.Gly60=)	single nucleotide variant	not provided [RCV005242914]	Chr18:55464103 [GRCh38] Chr18:53131334 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1486+5del	deletion	Pitt-Hopkins syndrome [RCV005199135]	Chr18:55234543 [GRCh38] Chr18:52901774 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.500-20G>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV005199200]	Chr18:55350428 [GRCh38] Chr18:53017659 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.896C>T (p.Pro299Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005117218]	Chr18:55269857 [GRCh38] Chr18:52937088 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1034C>T (p.Pro345Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005142769]	Chr18:55259984 [GRCh38] Chr18:52927215 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1140C>G (p.His380Gln)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005167642]	Chr18:55257321 [GRCh38] Chr18:52924552 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1095T>C (p.Asn365=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005207014]	Chr18:55257366 [GRCh38] Chr18:52924597 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1331C>G (p.Ala444Gly)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005159435]	Chr18:55254516 [GRCh38] Chr18:52921747 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1707G>A (p.Arg569=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005186242]	Chr18:55229019 [GRCh38] Chr18:52896250 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1983G>A (p.Met661Ile)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005115351]	Chr18:55228258 [GRCh38] Chr18:52895489 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.543A>G (p.Pro181=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005135987]	Chr18:55350365 [GRCh38] Chr18:53017596 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.897T>A (p.Pro299=)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005203291]	Chr18:55269856 [GRCh38] Chr18:52937087 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1176A>C (p.Arg392Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005163172]	Chr18:55254671 [GRCh38] Chr18:52921902 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1301G>A (p.Gly434Asp)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005142495]	Chr18:55254546 [GRCh38] Chr18:52921777 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1810_1815del (p.Pro604_Gln605del)	deletion	Pitt-Hopkins syndrome [RCV005199010]	Chr18:55228911..55228916 [GRCh38] Chr18:52896142..52896147 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1058C>T (p.Pro353Leu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005158991]	Chr18:55259960 [GRCh38] Chr18:52927191 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1351-18T>A	single nucleotide variant	Pitt-Hopkins syndrome [RCV005201636]	Chr18:55234701 [GRCh38] Chr18:52901932 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1879+15G>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV005124574]	Chr18:55228832 [GRCh38] Chr18:52896063 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.316_317del (p.Arg106fs)	deletion	Pitt-Hopkins syndrome [RCV005113356]	Chr18:55403506..55403507 [GRCh38] Chr18:53070737..53070738 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1364G>A (p.Arg455His)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005125146]	Chr18:55234670 [GRCh38] Chr18:52901901 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1235dup (p.Gly413fs)	duplication	Pitt-Hopkins syndrome [RCV005128583]	Chr18:55254611..55254612 [GRCh38] Chr18:52921842..52921843 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.73-8T>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV005125329]	Chr18:55585360 [GRCh38] Chr18:53252591 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1721A>T (p.Asn574Ile)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005131223]	Chr18:55229005 [GRCh38] Chr18:52896236 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1372G>A (p.Gly458Ser)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005126460]	Chr18:55234662 [GRCh38] Chr18:52901893 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.207+7A>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV005129063]	Chr18:55464069 [GRCh38] Chr18:53131300 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.1623C>G (p.Ile541Met)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005155690]	Chr18:55232535 [GRCh38] Chr18:52899766 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.655+9C>G	single nucleotide variant	Pitt-Hopkins syndrome [RCV005107384]	Chr18:55279542 [GRCh38] Chr18:52946773 [GRCh37] Chr18:18q21.2	likely benign
NM_001083962.2(TCF4):c.3G>A (p.Met1Ile)	single nucleotide variant	not provided [RCV005256106]	Chr18:55587114 [GRCh38] Chr18:53254345 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.595C>T (p.Pro199Ser)	single nucleotide variant	Inborn genetic diseases [RCV005291712]	Chr18:55279611 [GRCh38] Chr18:52946842 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1146+3A>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV005253276]	Chr18:55257312 [GRCh38] Chr18:52924543 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1819A>G (p.Lys607Glu)	single nucleotide variant	Pitt-Hopkins syndrome [RCV005253430]	Chr18:55228907 [GRCh38] Chr18:52896138 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1553A>T (p.Glu518Val)	single nucleotide variant	Inborn genetic diseases [RCV005291709]	Chr18:55232605 [GRCh38] Chr18:52899836 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1702G>A (p.Glu568Lys)	single nucleotide variant	Inborn genetic diseases [RCV005291711]	Chr18:55229024 [GRCh38] Chr18:52896255 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.152A>G (p.Glu51Gly)	single nucleotide variant	Inborn genetic diseases [RCV005283151]	Chr18:55464131 [GRCh38] Chr18:53131362 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.990+1G>C	single nucleotide variant	Pitt-Hopkins syndrome [RCV005255845]	Chr18:55261465 [GRCh38] Chr18:52928696 [GRCh37] Chr18:18q21.2	likely pathogenic
NM_001083962.2(TCF4):c.1650-3C>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV005252229]	Chr18:55229079 [GRCh38] Chr18:52896310 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.854del (p.Arg285fs)	deletion	not provided [RCV005425629]	Chr18:55269899 [GRCh38] Chr18:52937130 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.1972C>T (p.His658Tyr)	single nucleotide variant	not provided [RCV005429860]	Chr18:55228269 [GRCh38] Chr18:52895500 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.991-9T>A	single nucleotide variant	not provided [RCV005423493]	Chr18:55260036 [GRCh38] Chr18:52927267 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1486+1G>A	single nucleotide variant	not provided [RCV005417022]	Chr18:55234547 [GRCh38] Chr18:52901778 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.75G>A (p.Met25Ile)	single nucleotide variant	not provided [RCV005423671]	Chr18:55585350 [GRCh38] Chr18:53252581 [GRCh37] Chr18:18q21.2	uncertain significance
NM_001083962.2(TCF4):c.1426C>T (p.Gln476Ter)	single nucleotide variant	not provided [RCV005413004]	Chr18:55234608 [GRCh38] Chr18:52901839 [GRCh37] Chr18:18q21.2	pathogenic
NM_001083962.2(TCF4):c.550-1G>T	single nucleotide variant	Pitt-Hopkins syndrome [RCV005411128]	Chr18:55279657 [GRCh38] Chr18:52946888 [GRCh37] Chr18:18q21.2	likely pathogenic

miRNA Target Status (No longer updated)

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR155	hsa-miR-155-5p	OncomiRDB	external_info	NA	NA	21460854

Predicted Target Of

	Summary Value
Count of predictions:	10440
Count of miRNA genes:	1390
Interacting mature miRNAs:	1833
Transcripts:	ENST00000354452, ENST00000356073, ENST00000398339, ENST00000457482, ENST00000537578, ENST00000537856, ENST00000540999, ENST00000543082, ENST00000544241, ENST00000561831, ENST00000561992, ENST00000562030, ENST00000562512, ENST00000562543, ENST00000562607, ENST00000562638, ENST00000562680, ENST00000562847, ENST00000563686, ENST00000563760, ENST00000563824, ENST00000563888, ENST00000564228, ENST00000564343, ENST00000564403, ENST00000564999, ENST00000565018, ENST00000565124, ENST00000565393, ENST00000565580, ENST00000565908, ENST00000566279, ENST00000566286, ENST00000566376, ENST00000566514, ENST00000566777, ENST00000567880, ENST00000568147, ENST00000568169, ENST00000568186, ENST00000568673, ENST00000568740, ENST00000569012, ENST00000569357, ENST00000570146, ENST00000570177, ENST00000570287, ENST00000590810
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597205918	GWAS1301992_H	post-traumatic stress disorder QTL GWAS1301992 (human)		2e-09	behavior trait (VT:0010442)		18	55371253	55371254	Human
597092766	GWAS1188840_H	FEV/FVC ratio, response to bronchodilator QTL GWAS1188840 (human)		0.000003	lung capacity (VT:0001942)	forced expiratory volume to forced vital capacity ratio (CMO:0000241)	18	55534249	55534250	Human
597039514	GWAS1135588_H	risk-taking behaviour QTL GWAS1135588 (human)		1e-10	exploratory behavior trait (VT:0010471)		18	55487656	55487657	Human
597115290	GWAS1211364_H	neuroticism measurement, wellbeing measurement, depressive symptom measurement QTL GWAS1211364 (human)		4e-09	depression-related behavior trait (VT:0015015)		18	55253719	55253720	Human
597249940	GWAS1346014_H	major depressive disorder QTL GWAS1346014 (human)		4e-11	major depressive disorder		18	55539976	55539977	Human
597246358	GWAS1342432_H	neuroticism measurement QTL GWAS1342432 (human)		3e-09	behavior trait (VT:0010442)		18	55431790	55431791	Human
597049753	GWAS1145827_H	prostate carcinoma QTL GWAS1145827 (human)		0.000005	prostate integrity trait (VT:0010571)		18	55563628	55563629	Human
597033861	GWAS1129935_H	systolic blood pressure QTL GWAS1129935 (human)		5e-13	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	18	55585157	55585158	Human
597046146	GWAS1142220_H	bipolar disorder, major depressive disorder QTL GWAS1142220 (human)		5e-14	bipolar disorder, major depressive disorder		18	55434367	55434368	Human
597609348	GWAS1666208_H	benign neoplasm of adrenal gland QTL GWAS1666208 (human)		5e-12	benign neoplasm of adrenal gland		18	55451663	55451664	Human
597179267	GWAS1275341_H	neuroticism measurement QTL GWAS1275341 (human)		3e-11	behavior trait (VT:0010442)		18	55497462	55497463	Human
597209477	GWAS1305551_H	wellbeing measurement QTL GWAS1305551 (human)		1e-11	wellness/fitness trait (VT:1000152)		18	55560417	55560418	Human
597047177	GWAS1143251_H	neuroticism measurement QTL GWAS1143251 (human)		7e-09	behavior trait (VT:0010442)		18	55235854	55235855	Human
407050339	GWAS699315_H	sclerosing cholangitis QTL GWAS699315 (human)		3e-08	sclerosing cholangitis		18	55539976	55539977	Human
597325240	GWAS1421314_H	educational attainment QTL GWAS1421314 (human)		1e-11	educational attainment		18	55370474	55370475	Human
597325241	GWAS1421315_H	educational attainment QTL GWAS1421315 (human)		5e-13	educational attainment		18	55518861	55518862	Human
596950451	GWAS1069970_H	major depressive disorder QTL GWAS1069970 (human)		1e-08	depressive symptom measurement		18	55235854	55235855	Human
597108671	GWAS1204745_H	mathematical ability QTL GWAS1204745 (human)		2e-21	cognitive behavior trait (VT:0010450)		18	55374672	55374673	Human
596950463	GWAS1069982_H	major depressive disorder QTL GWAS1069982 (human)		4e-08	depressive symptom measurement		18	55497462	55497463	Human
407327351	GWAS976327_H	unipolar depression QTL GWAS976327 (human)		1e-18	unipolar depression		18	55431781	55431782	Human
597290913	GWAS1386987_H	body mass index QTL GWAS1386987 (human)		6e-16	body size trait (VT:0100005)	body mass index (BMI) (CMO:0000105)	18	55543071	55543072	Human
597588384	GWAS1645244_H	diabetic neuropathy QTL GWAS1645244 (human)		2e-11	nervous system integrity trait (VT:0010566)		18	55423808	55423809	Human
597299109	GWAS1395183_H	type 2 diabetes mellitus QTL GWAS1395183 (human)		9e-13	type 2 diabetes mellitus		18	55423806	55423807	Human
597248474	GWAS1344548_H	neuroticism measurement QTL GWAS1344548 (human)		2e-09	behavior trait (VT:0010442)		18	55253719	55253720	Human
597420504	GWAS1516578_H	central corneal thickness QTL GWAS1516578 (human)		6e-11	cornea thickness trait (VT:0005543)		18	55264660	55264661	Human
597290972	GWAS1387046_H	body mass index QTL GWAS1387046 (human)		1e-09	body size trait (VT:0100005)	body mass index (BMI) (CMO:0000105)	18	55543071	55543072	Human
407058949	GWAS707925_H	chronotype measurement QTL GWAS707925 (human)		3e-08	sleep behavior trait (VT:0001501)		18	55563419	55563420	Human
407058948	GWAS707924_H	chronotype measurement QTL GWAS707924 (human)		3e-11	sleep behavior trait (VT:0001501)		18	55486936	55486937	Human
407147533	GWAS796509_H	schizophrenia QTL GWAS796509 (human)		0.000001	schizophrenia		18	55527730	55527731	Human
597032415	GWAS1128489_H	risk-taking behaviour QTL GWAS1128489 (human)		6e-09	exploratory behavior trait (VT:0010471)		18	55483919	55483920	Human
597347281	GWAS1443355_H	systolic blood pressure QTL GWAS1443355 (human)		1e-09	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	18	55585157	55585158	Human
597205972	GWAS1302046_H	insulin measurement QTL GWAS1302046 (human)		7e-09	blood insulin amount (VT:0001560)	pancreatic islet insulin release measurement (CMO:0001216)	18	55254431	55254432	Human
597204950	GWAS1301024_H	neuroticism measurement QTL GWAS1301024 (human)		4e-10	behavior trait (VT:0010442)		18	55539976	55539977	Human
596975047	GWAS1094566_H	major depressive disorder QTL GWAS1094566 (human)		3e-14	major depressive disorder		18	55497462	55497463	Human
597108672	GWAS1204746_H	mathematical ability QTL GWAS1204746 (human)		8e-14	cognitive behavior trait (VT:0010450)		18	55543071	55543072	Human
597586886	GWAS1643746_H	type 2 diabetes mellitus QTL GWAS1643746 (human)		2e-23	type 2 diabetes mellitus		18	55383415	55383416	Human
597052366	GWAS1148440_H	neuroticism measurement QTL GWAS1148440 (human)		7e-15	behavior trait (VT:0010442)		18	55400723	55400724	Human
597049295	GWAS1145369_H	major depressive disorder QTL GWAS1145369 (human)		4e-08	depression-related behavior trait (VT:0015015)		18	55497462	55497463	Human
406989336	GWAS638312_H	unipolar depression QTL GWAS638312 (human)		6e-08	unipolar depression		18	55431781	55431782	Human
597190083	GWAS1286157_H	post-traumatic stress disorder symptom measurement QTL GWAS1286157 (human)		1e-10	stress-related behavior trait (VT:0010451)		18	55525796	55525797	Human
406989337	GWAS638313_H	unipolar depression QTL GWAS638313 (human)		0.0000002	unipolar depression		18	55539976	55539977	Human
597039565	GWAS1135639_H	pulse pressure measurement QTL GWAS1135639 (human)		7e-10	arterial blood pressure trait (VT:2000000)	pulse pressure (CMO:0000292)	18	55585157	55585158	Human
597072375	GWAS1168449_H	neuroticism measurement QTL GWAS1168449 (human)		5e-09	behavior trait (VT:0010442)		18	55235854	55235855	Human
406911010	GWAS559986_H	attention deficit hyperactivity disorder, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia QTL GWAS559986 (human)		0.0000002	attention deficit hyperactivity disorder, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia		18	55399097	55399098	Human
597100021	GWAS1196095_H	alopecia QTL GWAS1196095 (human)		8e-10	alopecia		18	55426493	55426494	Human
597100020	GWAS1196094_H	alopecia QTL GWAS1196094 (human)		1e-10	alopecia		18	55338703	55338704	Human
406941221	GWAS590197_H	insomnia measurement QTL GWAS590197 (human)		9e-09	sleep behavior trait (VT:0001501)		18	55228300	55228301	Human
597190140	GWAS1286214_H	post-traumatic stress disorder symptom measurement QTL GWAS1286214 (human)		1e-08	stress-related behavior trait (VT:0010451)		18	55585157	55585158	Human
597237756	GWAS1333830_H	cortical thickness QTL GWAS1333830 (human)		1e-13	cerebral cortex morphology trait (VT:0000788)		18	55271138	55271139	Human
596972528	GWAS1092047_H	major depressive disorder QTL GWAS1092047 (human)		0.0000002	major depressive disorder		18	55539976	55539977	Human
596971516	GWAS1091035_H	major depressive disorder QTL GWAS1091035 (human)		2e-27	major depressive disorder		18	55431781	55431782	Human
597040125	GWAS1136199_H	risk-taking behaviour QTL GWAS1136199 (human)		3e-08	exploratory behavior trait (VT:0010471)		18	55392089	55392090	Human
597144060	GWAS1240134_H	smoking initiation QTL GWAS1240134 (human)		2e-12	behavior trait (VT:0010442)		18	55486362	55486363	Human
407026735	GWAS675711_H	Fuchs endothelial corneal dystrophy QTL GWAS675711 (human)		1e-18	cognitive behavior trait (VT:0010450)		18	55543071	55543072	Human
597088760	GWAS1184834_H	depressive symptom measurement QTL GWAS1184834 (human)		4e-09	depression-related behavior trait (VT:0015015)		18	55434367	55434368	Human
597278185	GWAS1374259_H	insomnia QTL GWAS1374259 (human)		2e-23	sleep behavior trait (VT:0001501)		18	55228300	55228301	Human
597061606	GWAS1157680_H	age at menarche QTL GWAS1157680 (human)		2e-10	estrous cycle trait (VT:0001927)		18	55546095	55546096	Human
597278184	GWAS1374258_H	insomnia QTL GWAS1374258 (human)		8e-14	sleep behavior trait (VT:0001501)		18	55222736	55222737	Human
406921776	GWAS570752_H	unipolar depression QTL GWAS570752 (human)		4e-08	depressive symptom measurement		18	55497462	55497463	Human
597278187	GWAS1374261_H	insomnia QTL GWAS1374261 (human)		1e-11	sleep behavior trait (VT:0001501)		18	55297641	55297642	Human
597278186	GWAS1374260_H	insomnia QTL GWAS1374260 (human)		2e-08	sleep behavior trait (VT:0001501)		18	55242588	55242589	Human
597278189	GWAS1374263_H	insomnia QTL GWAS1374263 (human)		6e-14	sleep behavior trait (VT:0001501)		18	55377967	55377968	Human
597597674	GWAS1654534_H	HbA1c measurement QTL GWAS1654534 (human)		2e-15	blood hemoglobin amount (VT:0001588)	blood hemoglobin A1c level (CMO:0002786)	18	55423808	55423809	Human
597589994	GWAS1646854_H	type 2 diabetes mellitus QTL GWAS1646854 (human)		3e-11	type 2 diabetes mellitus		18	55423808	55423809	Human
597278188	GWAS1374262_H	insomnia QTL GWAS1374262 (human)		4e-12	sleep behavior trait (VT:0001501)		18	55375989	55375990	Human
407129137	GWAS778113_H	schizophrenia QTL GWAS778113 (human)		4e-09	schizophrenia		18	55487771	55487772	Human
597063139	GWAS1159213_H	autism spectrum disorder, schizophrenia QTL GWAS1159213 (human)		5e-11	behavior trait (VT:0010442)		18	55532886	55532887	Human
597278190	GWAS1374264_H	insomnia QTL GWAS1374264 (human)		3e-10	sleep behavior trait (VT:0001501)		18	55379088	55379089	Human
407114814	GWAS763790_H	risk-taking behaviour QTL GWAS763790 (human)		1e-10	exploratory behavior trait (VT:0010471)		18	55531605	55531606	Human
596972526	GWAS1092045_H	major depressive disorder QTL GWAS1092045 (human)		6e-08	major depressive disorder		18	55431781	55431782	Human
407116345	GWAS765321_H	balding measurement QTL GWAS765321 (human)		6e-23	hair amount (VT:0000416)	coat/hair morphological measurement (CMO:0001807)	18	55484620	55484621	Human
597274906	GWAS1370980_H	schizophrenia QTL GWAS1370980 (human)		0.000005	schizophrenia		18	55420753	55420754	Human
597233434	GWAS1329508_H	major depressive disorder QTL GWAS1329508 (human)		5e-13	major depressive disorder		18	55468663	55468664	Human
597051154	GWAS1147228_H	mood disorder, major depressive disorder QTL GWAS1147228 (human)		3e-08	behavior trait (VT:0010442)		18	55431862	55431863	Human
597269788	GWAS1365862_H	taste liking measurement QTL GWAS1365862 (human)		3e-08	gustatory system physiology trait (VT:0001985)		18	55222481	55222485	Human
597251358	GWAS1347432_H	central corneal thickness QTL GWAS1347432 (human)		2e-21	cornea thickness trait (VT:0005543)		18	55543071	55543072	Human
406921417	GWAS570393_H	unipolar depression QTL GWAS570393 (human)		1e-08	depressive symptom measurement		18	55235854	55235855	Human
407169740	GWAS818716_H	unipolar depression QTL GWAS818716 (human)		2e-17	unipolar depression		18	55431781	55431782	Human
597048602	GWAS1144676_H	mood disorder, major depressive disorder QTL GWAS1144676 (human)		2e-10	behavior trait (VT:0010442)		18	55497462	55497463	Human
597247752	GWAS1343826_H	neuroticism measurement QTL GWAS1343826 (human)		5e-08	behavior trait (VT:0010442)		18	55585157	55585158	Human
597280523	GWAS1376597_H	insomnia QTL GWAS1376597 (human)		2e-12	sleep behavior trait (VT:0001501)		18	55257086	55257087	Human
406921427	GWAS570403_H	unipolar depression QTL GWAS570403 (human)		5e-08	unipolar depression		18	55450073	55450074	Human
597274381	GWAS1370455_H	type 2 diabetes mellitus QTL GWAS1370455 (human)		2e-11	type 2 diabetes mellitus		18	55383415	55383416	Human
597284621	GWAS1380695_H	hemoglobin A1 measurement QTL GWAS1380695 (human)		5e-09	blood hemoglobin amount (VT:0001588)		18	55417896	55417897	Human
597280524	GWAS1376598_H	insomnia QTL GWAS1376598 (human)		2e-08	sleep behavior trait (VT:0001501)		18	55275596	55275597	Human
597226242	GWAS1322316_H	chronotype measurement QTL GWAS1322316 (human)		6e-10	sleep behavior trait (VT:0001501)		18	55392089	55392090	Human
597216005	GWAS1312079_H	pulse pressure measurement QTL GWAS1312079 (human)		0.0000004	arterial blood pressure trait (VT:2000000)	pulse pressure (CMO:0000292)	18	55585157	55585158	Human
597118728	GWAS1214802_H	major depressive disorder QTL GWAS1214802 (human)		3e-15	major depressive disorder		18	55434367	55434368	Human
596954891	GWAS1074410_H	body mass index QTL GWAS1074410 (human)		6e-16	body mass index		18	55543071	55543072	Human
597249855	GWAS1345929_H	corneal resistance factor QTL GWAS1345929 (human)		3e-08	cornea morphology trait (VT:0001312)		18	55416634	55416635	Human
597320509	GWAS1416583_H	alcohol use disorder measurement QTL GWAS1416583 (human)		0.000001	response to alcohol trait (VT:0010489)		18	55487771	55487772	Human
596969789	GWAS1089308_H	major depressive disorder QTL GWAS1089308 (human)		2e-17	major depressive disorder		18	55431781	55431782	Human
597315383	GWAS1411457_H	cortical thickness QTL GWAS1411457 (human)		1e-15	cerebral cortex morphology trait (VT:0000788)		18	55239599	55239600	Human
597206838	GWAS1302912_H	major depressive disorder QTL GWAS1302912 (human)		6e-08	major depressive disorder		18	55431781	55431782	Human
597581616	GWAS1638476_H	monocyte count QTL GWAS1638476 (human)		2e-13	monocyte quantity (VT:0000223)	blood monocyte count (CMO:0000032)	18	55543071	55543072	Human
596971834	GWAS1091353_H	obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa, major depressive disorder QTL GWAS1091353 (human)		3e-10	obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa, major depressive disorder		18	55532886	55532887	Human
597206839	GWAS1302913_H	major depressive disorder QTL GWAS1302913 (human)		0.0000002	major depressive disorder		18	55539976	55539977	Human
597598510	GWAS1655370_H	HbA1c measurement QTL GWAS1655370 (human)		2e-17	blood hemoglobin amount (VT:0001588)	blood hemoglobin A1c level (CMO:0002786)	18	55423808	55423809	Human
597103908	GWAS1199982_H	self rated health QTL GWAS1199982 (human)		5e-08	self rated health		18	55577183	55577184	Human
597224751	GWAS1320825_H	major depressive disorder QTL GWAS1320825 (human)		2e-17	major depressive disorder		18	55431781	55431782	Human
597141294	GWAS1237368_H	irritable bowel syndrome QTL GWAS1237368 (human)		5e-11	intestine integrity trait (VT:0010554)		18	55434367	55434368	Human
597348644	GWAS1444718_H	gastroesophageal reflux disease QTL GWAS1444718 (human)		3e-08	stomach integrity trait (VT:0010603)		18	55225084	55225085	Human
406930174	GWAS579150_H	unipolar depression, mood disorder QTL GWAS579150 (human)		5e-08	unipolar depression, mood disorder		18	55455800	55455801	Human
597072212	GWAS1168286_H	mood instability measurement QTL GWAS1168286 (human)		7e-13	emotion/affect behavior trait (VT:0002572)		18	55271138	55271139	Human
597279581	GWAS1375655_H	insomnia QTL GWAS1375655 (human)		1e-08	sleep behavior trait (VT:0001501)		18	55431781	55431782	Human
597279580	GWAS1375654_H	insomnia QTL GWAS1375654 (human)		6e-12	sleep behavior trait (VT:0001501)		18	55304979	55304980	Human
597061459	GWAS1157533_H	schizophrenia QTL GWAS1157533 (human)		4e-08	schizophrenia		18	55319930	55319931	Human
597098832	GWAS1194906_H	monocyte count QTL GWAS1194906 (human)		3e-12	monocyte quantity (VT:0000223)	blood monocyte count (CMO:0000032)	18	55543071	55543072	Human
597324115	GWAS1420189_H	schizophrenia QTL GWAS1420189 (human)		1e-13	schizophrenia		18	55343117	55343118	Human
597324113	GWAS1420187_H	schizophrenia QTL GWAS1420187 (human)		1e-13	schizophrenia		18	55532886	55532887	Human
597245780	GWAS1341854_H	coffee consumption measurement, neuroticism measurement QTL GWAS1341854 (human)		2e-10	behavior trait (VT:0010442)		18	55434673	55434674	Human
597031768	GWAS1127842_H	mood instability measurement QTL GWAS1127842 (human)		1e-14	emotion/affect behavior trait (VT:0002572)		18	55543071	55543072	Human
596964165	GWAS1083684_H	attention deficit hyperactivity disorder, bipolar disorder, autism spectrum disorder, schizophrenia, major depressive disorder QTL GWAS1083684 (human)		0.0000002	behavior trait (VT:0010442)		18	55399097	55399098	Human
596973382	GWAS1092901_H	major depressive disorder QTL GWAS1092901 (human)		1e-18	major depressive disorder		18	55431781	55431782	Human
407042705	GWAS691681_H	unipolar depression, irritable bowel syndrome QTL GWAS691681 (human)		1e-08	unipolar depression, irritable bowel syndrome		18	55434629	55434630	Human
597205325	GWAS1301399_H	wellbeing measurement QTL GWAS1301399 (human)		7e-15	wellness/fitness trait (VT:1000152)		18	55346716	55346717	Human
597588811	GWAS1645671_H	glucose measurement QTL GWAS1645671 (human)		3e-12	blood glucose amount (VT:0000188)	blood glucose level (CMO:0000046)	18	55423808	55423809	Human
597590344	GWAS1647204_H	Fuchs' endothelial dystrophy QTL GWAS1647204 (human)		1e-323	Fuchs' endothelial dystrophy		18	55519680	55519681	Human
597205326	GWAS1301400_H	wellbeing measurement QTL GWAS1301400 (human)		4e-12	wellness/fitness trait (VT:1000152)		18	55531605	55531606	Human
597205327	GWAS1301401_H	wellbeing measurement QTL GWAS1301401 (human)		9e-10	wellness/fitness trait (VT:1000152)		18	55539976	55539977	Human
406930072	GWAS579048_H	unipolar depression, mood disorder QTL GWAS579048 (human)		6e-12	unipolar depression, mood disorder		18	55537633	55537634	Human
597050188	GWAS1146262_H	neuroticism measurement QTL GWAS1146262 (human)		4e-08	behavior trait (VT:0010442)		18	55315227	55315228	Human
597050189	GWAS1146263_H	neuroticism measurement QTL GWAS1146263 (human)		1e-10	behavior trait (VT:0010442)		18	55441971	55441972	Human
597320518	GWAS1416592_H	smoking initiation QTL GWAS1416592 (human)		1e-11	behavior trait (VT:0010442)		18	55483150	55483151	Human
597072200	GWAS1168274_H	mood instability measurement QTL GWAS1168274 (human)		4e-12	emotion/affect behavior trait (VT:0002572)		18	55372835	55372836	Human
596974923	GWAS1094442_H	major depressive disorder QTL GWAS1094442 (human)		5e-13	major depressive disorder		18	55468663	55468664	Human
597072201	GWAS1168275_H	mood instability measurement QTL GWAS1168275 (human)		2e-12	emotion/affect behavior trait (VT:0002572)		18	55543071	55543072	Human
407034018	GWAS682994_H	unipolar depression QTL GWAS682994 (human)		6e-21	unipolar depression		18	55431781	55431782	Human
597337968	GWAS1434042_H	irritable bowel syndrome, major depressive disorder QTL GWAS1434042 (human)		1e-08	intestine integrity trait (VT:0010554)		18	55434629	55434630	Human
597101436	GWAS1197510_H	schizophrenia, intelligence, self reported educational attainment QTL GWAS1197510 (human)		6e-13	schizophrenia, intelligence, self reported educational attainment		18	55532886	55532887	Human
597071738	GWAS1167812_H	neuroticism measurement QTL GWAS1167812 (human)		7e-11	behavior trait (VT:0010442)		18	55448648	55448649	Human
597072763	GWAS1168837_H	loneliness measurement QTL GWAS1168837 (human)		7e-11	emotion/affect behavior trait (VT:0002572)		18	55585157	55585158	Human
597073273	GWAS1169347_H	feeling "fed-up" measurement QTL GWAS1169347 (human)		3e-14	emotion/affect behavior trait (VT:0002572)		18	55585157	55585158	Human
406912690	GWAS561666_H	heel bone mineral density QTL GWAS561666 (human)		1e-09	bone mineral mass (VT:0005007)	bone mineral density (CMO:0001226)	18	55434367	55434368	Human
597090658	GWAS1186732_H	type 2 diabetes mellitus QTL GWAS1186732 (human)		8e-20	type 2 diabetes mellitus		18	55383415	55383416	Human
407061686	GWAS710662_H	unipolar depression QTL GWAS710662 (human)		4e-11	unipolar depression		18	55434367	55434368	Human
597047136	GWAS1143210_H	C-reactive protein measurement QTL GWAS1143210 (human)		9e-09	C-reactive protein amount (VT:0010036)	blood C-reactive protein level (CMO:0003160)	18	55543071	55543072	Human
596971372	GWAS1090891_H	major depressive disorder QTL GWAS1090891 (human)		4e-11	major depressive disorder		18	55434367	55434368	Human
407028409	GWAS677385_H	obesity QTL GWAS677385 (human)		0.000004	eating behavior trait (VT:0001431)		18	55359126	55359127	Human
597116780	GWAS1212854_H	self reported educational attainment QTL GWAS1212854 (human)		9e-20	self reported educational attainment		18	55543071	55543072	Human
597076330	GWAS1172404_H	grip strength measurement QTL GWAS1172404 (human)		6e-08	grip strength measurement		18	55577183	55577184	Human
597190500	GWAS1286574_H	post-traumatic stress disorder symptom measurement QTL GWAS1286574 (human)		5e-09	behavior trait (VT:0010442)		18	55585157	55585158	Human
596986731	GWAS1106250_H	body mass index QTL GWAS1106250 (human)		1e-09	body mass index		18	55543071	55543072	Human
597212518	GWAS1308592_H	schizophrenia QTL GWAS1308592 (human)		9e-11	schizophrenia		18	55584331	55584332	Human
597037929	GWAS1134003_H	body mass index QTL GWAS1134003 (human)		1e-10	body size trait (VT:0100005)	body mass index (BMI) (CMO:0000105)	18	55543071	55543072	Human
597238937	GWAS1335011_H	retinal vasculature measurement QTL GWAS1335011 (human)		0.000003	retina blood vessel morphology trait (VT:0002792)		18	55519680	55519681	Human
597026448	GWAS1122522_H	loneliness measurement QTL GWAS1122522 (human)		4e-17	emotion/affect behavior trait (VT:0002572)		18	55543071	55543072	Human
597048465	GWAS1144539_H	mood disorder, major depressive disorder QTL GWAS1144539 (human)		6e-12	behavior trait (VT:0010442)		18	55537633	55537634	Human
596963484	GWAS1083003_H	type 2 diabetes mellitus QTL GWAS1083003 (human)		9e-13	type 2 diabetes mellitus		18	55423806	55423807	Human
597325968	GWAS1422042_H	pain QTL GWAS1422042 (human)		4e-08	pain threshold (VT:0001970)		18	55580920	55580921	Human
596973726	GWAS1093245_H	major depressive disorder QTL GWAS1093245 (human)		1e-10	major depressive disorder		18	55431781	55431782	Human
407166287	GWAS815263_H	unipolar depression QTL GWAS815263 (human)		2e-12	unipolar depression		18	55539976	55539977	Human
597142171	GWAS1238245_H	Antihypertensive use measurement QTL GWAS1238245 (human)		1e-09	Antihypertensive use measurement		18	55563628	55563629	Human
596961945	GWAS1081464_H	risk-taking behaviour QTL GWAS1081464 (human)		2e-14	risk-taking behaviour		18	55516165	55516166	Human
597219989	GWAS1316063_H	corneal resistance factor QTL GWAS1316063 (human)		7e-67	cornea morphology trait (VT:0001312)		18	55519680	55519681	Human
597410964	GWAS1507038_H	mood disorder, major depressive disorder QTL GWAS1507038 (human)		2e-08	behavior trait (VT:0010442)		18	55230988	55230989	Human
597111943	GWAS1208017_H	tea consumption measurement QTL GWAS1208017 (human)		0.0000003	drinking behavior trait (VT:0001422)	drink intake measurement (CMO:0000771)	18	55236369	55236370	Human
406916944	GWAS565920_H	risk-taking behaviour QTL GWAS565920 (human)		2e-12	exploratory behavior trait (VT:0010471)		18	55315227	55315228	Human
596950656	GWAS1070175_H	mood disorder, major depressive disorder QTL GWAS1070175 (human)		2e-08	mood disorder, major depressive disorder		18	55230988	55230989	Human
597332622	GWAS1428696_H	cigarettes per day measurement QTL GWAS1428696 (human)		3e-12	cigarettes per day measurement		18	55572071	55572072	Human
597332621	GWAS1428695_H	cigarettes per day measurement QTL GWAS1428695 (human)		3e-12	cigarettes per day measurement		18	55431781	55431782	Human
597208705	GWAS1304779_H	depressive symptom measurement QTL GWAS1304779 (human)		5e-10	depression-related behavior trait (VT:0015015)		18	55539976	55539977	Human
597048463	GWAS1144537_H	mood disorder, major depressive disorder QTL GWAS1144537 (human)		4e-17	behavior trait (VT:0010442)		18	55585157	55585158	Human
597054605	GWAS1150679_H	household income QTL GWAS1150679 (human)		6e-11	household income		18	55543071	55543072	Human
597110411	GWAS1206485_H	major depressive disorder QTL GWAS1206485 (human)		4e-11	major depressive disorder		18	55434367	55434368	Human
406926175	GWAS575151_H	unipolar depression, mood disorder QTL GWAS575151 (human)		2e-10	unipolar depression, mood disorder		18	55497462	55497463	Human
597231289	GWAS1327363_H	cigarettes per day measurement QTL GWAS1327363 (human)		9e-09	cigarettes per day measurement		18	55584494	55584495	Human
597072575	GWAS1168649_H	worry measurement QTL GWAS1168649 (human)		1e-09	emotion/affect behavior trait (VT:0002572)		18	55437022	55437023	Human
597278387	GWAS1374461_H	insomnia QTL GWAS1374461 (human)		6e-15	sleep behavior trait (VT:0001501)		18	55400723	55400724	Human
597278386	GWAS1374460_H	insomnia QTL GWAS1374460 (human)		1e-15	sleep behavior trait (VT:0001501)		18	55389957	55389958	Human
597094586	GWAS1190660_H	schizophrenia QTL GWAS1190660 (human)		0.000002	schizophrenia		18	55383415	55383416	Human
597278389	GWAS1374463_H	insomnia QTL GWAS1374463 (human)		5e-10	sleep behavior trait (VT:0001501)		18	55468663	55468664	Human
597278388	GWAS1374462_H	insomnia QTL GWAS1374462 (human)		4e-09	sleep behavior trait (VT:0001501)		18	55431862	55431863	Human
596970171	GWAS1089690_H	major depressive disorder QTL GWAS1089690 (human)		2e-12	major depressive disorder		18	55539976	55539977	Human
597049529	GWAS1145603_H	major depressive disorder QTL GWAS1145603 (human)		1e-08	depression-related behavior trait (VT:0015015)		18	55235854	55235855	Human
597278390	GWAS1374464_H	insomnia QTL GWAS1374464 (human)		2e-08	sleep behavior trait (VT:0001501)		18	55497462	55497463	Human
407151477	GWAS800453_H	unipolar depression, mood disorder QTL GWAS800453 (human)		4e-09	unipolar depression, mood disorder		18	55629696	55629697	Human
597139107	GWAS1235181_H	major depressive disorder QTL GWAS1235181 (human)		1e-18	major depressive disorder		18	55431781	55431782	Human
597212846	GWAS1308920_H	obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa, major depressive disorder QTL GWAS1308920 (human)		3e-10	behavior trait (VT:0010442)		18	55532886	55532887	Human
597409443	GWAS1505517_H	insomnia QTL GWAS1505517 (human)		7e-09	sleep behavior trait (VT:0001501)		18	55466509	55466510	Human
406913915	GWAS562891_H	unipolar depression, bipolar disorder QTL GWAS562891 (human)		5e-14	unipolar depression, bipolar disorder		18	55434367	55434368	Human
597150889	GWAS1246963_H	insomnia QTL GWAS1246963 (human)		2e-09	sleep behavior trait (VT:0001501)		18	55389957	55389958	Human
597200090	GWAS1296164_H	diastolic blood pressure QTL GWAS1296164 (human)		0.000008	arterial blood pressure trait (VT:2000000)	diastolic blood pressure (CMO:0000005)	18	55585157	55585158	Human
597484255	GWAS1580329_H	self reported educational attainment QTL GWAS1580329 (human)		3e-08	self reported educational attainment		18	55481790	55481791	Human
596950737	GWAS1070256_H	mood disorder, major depressive disorder QTL GWAS1070256 (human)		5e-08	mood disorder, major depressive disorder		18	55455800	55455801	Human
597053648	GWAS1149722_H	neuroticism measurement QTL GWAS1149722 (human)		3e-10	behavior trait (VT:0010442)		18	55392089	55392090	Human
597053649	GWAS1149723_H	neuroticism measurement QTL GWAS1149723 (human)		3e-10	behavior trait (VT:0010442)		18	55416360	55416361	Human
597199056	GWAS1295130_H	body mass index QTL GWAS1295130 (human)		3e-10	body size trait (VT:0100005)	body mass index (BMI) (CMO:0000105)	18	55543071	55543072	Human
407053064	GWAS702040_H	insomnia measurement QTL GWAS702040 (human)		2e-12	sleep behavior trait (VT:0001501)		18	55239599	55239600	Human
597104346	GWAS1200420_H	alopecia QTL GWAS1200420 (human)		2e-08	alopecia		18	55451231	55451232	Human
597246153	GWAS1342227_H	coffee consumption measurement, insomnia QTL GWAS1342227 (human)		1e-08	drinking behavior trait (VT:0001422)		18	55434673	55434674	Human
597059269	GWAS1155343_H	intraocular pressure measurement QTL GWAS1155343 (human)		3e-08	intraocular pressure (VT:0005257)		18	55360492	55360493	Human
406981393	GWAS630369_H	heel bone mineral density QTL GWAS630369 (human)		4e-09	bone mineral mass (VT:0005007)	bone mineral density (CMO:0001226)	18	55499363	55499364	Human
597276365	GWAS1372439_H	insomnia QTL GWAS1372439 (human)		2e-09	sleep behavior trait (VT:0001501)		18	55315227	55315228	Human
597276364	GWAS1372438_H	insomnia QTL GWAS1372438 (human)		9e-15	sleep behavior trait (VT:0001501)		18	55228300	55228301	Human
597268684	GWAS1364758_H	type 2 diabetes mellitus QTL GWAS1364758 (human)		1e-09	type 2 diabetes mellitus		18	55383415	55383416	Human
597276367	GWAS1372441_H	insomnia QTL GWAS1372441 (human)		5e-09	sleep behavior trait (VT:0001501)		18	55416634	55416635	Human
406979348	GWAS628324_H	schizophrenia QTL GWAS628324 (human)		1e-11	schizophrenia		18	55532886	55532887	Human
597276366	GWAS1372440_H	insomnia QTL GWAS1372440 (human)		2e-10	sleep behavior trait (VT:0001501)		18	55389957	55389958	Human
597113039	GWAS1209113_H	major depressive disorder QTL GWAS1209113 (human)		2e-27	major depressive disorder		18	55431781	55431782	Human
596953800	GWAS1073319_H	size QTL GWAS1073319 (human)		6e-09	size		18	55484620	55484621	Human
597222597	GWAS1318671_H	major depressive disorder QTL GWAS1318671 (human)		2e-12	major depressive disorder		18	55539976	55539977	Human
597410501	GWAS1506575_H	neuroticism measurement QTL GWAS1506575 (human)		3e-09	behavior trait (VT:0010442)		18	55466509	55466510	Human
597211335	GWAS1307409_H	self reported educational attainment QTL GWAS1307409 (human)		2e-18	self reported educational attainment		18	55543071	55543072	Human
406982941	GWAS631917_H	unipolar depression, mood disorder QTL GWAS631917 (human)		4e-17	unipolar depression, mood disorder		18	55585157	55585158	Human
597086966	GWAS1183040_H	type 2 diabetes mellitus QTL GWAS1183040 (human)		4e-20	type 2 diabetes mellitus		18	55383415	55383416	Human
597205754	GWAS1301828_H	post-traumatic stress disorder QTL GWAS1301828 (human)		2e-10	behavior trait (VT:0010442)		18	55585157	55585158	Human
597047026	GWAS1143100_H	neuroticism measurement QTL GWAS1143100 (human)		3e-12	behavior trait (VT:0010442)		18	55434367	55434368	Human
597074675	GWAS1170749_H	neuroticism measurement QTL GWAS1170749 (human)		9e-11	behavior trait (VT:0010442)		18	55400723	55400724	Human
597176061	GWAS1272135_H	cigarettes per day measurement QTL GWAS1272135 (human)		1e-13	cigarettes per day measurement		18	55584494	55584495	Human
597035775	GWAS1131849_H	type 2 diabetes mellitus QTL GWAS1131849 (human)		1e-14	type 2 diabetes mellitus		18	55383415	55383416	Human
597099259	GWAS1195333_H	attention deficit hyperactivity disorder, bipolar disorder, autism spectrum disorder, schizophrenia, major depressive disorder QTL GWAS1195333 (human)		9e-10	behavior trait (VT:0010442)		18	55431781	55431782	Human
597100281	GWAS1196355_H	major depressive disorder QTL GWAS1196355 (human)		2e-12	major depressive disorder		18	55468663	55468664	Human
597041894	GWAS1137968_H	schizophrenia QTL GWAS1137968 (human)		8e-09	schizophrenia		18	55425653	55425654	Human
596973284	GWAS1092803_H	irritable bowel syndrome, major depressive disorder QTL GWAS1092803 (human)		1e-08	irritable bowel syndrome, major depressive disorder		18	55434629	55434630	Human
597041895	GWAS1137969_H	schizophrenia QTL GWAS1137969 (human)		2e-09	schizophrenia		18	55532886	55532887	Human
597257963	GWAS1354037_H	Alzheimer disease, gastroesophageal reflux disease QTL GWAS1354037 (human)		0.00001	stomach integrity trait (VT:0010603)		18	55436137	55436138	Human
597598952	GWAS1655812_H	HbA1c measurement QTL GWAS1655812 (human)		1e-16	blood hemoglobin amount (VT:0001588)	blood hemoglobin A1c level (CMO:0002786)	18	55423808	55423809	Human
597051118	GWAS1147192_H	mood disorder, major depressive disorder QTL GWAS1147192 (human)		6e-12	behavior trait (VT:0010442)		18	55235854	55235855	Human
597203680	GWAS1299754_H	wellbeing measurement QTL GWAS1299754 (human)		7e-16	wellness/fitness trait (VT:1000152)		18	55431781	55431782	Human
597049582	GWAS1145656_H	major depressive disorder QTL GWAS1145656 (human)		5e-08	major depressive disorder		18	55450073	55450074	Human
597051119	GWAS1147193_H	mood disorder, major depressive disorder QTL GWAS1147193 (human)		5e-08	behavior trait (VT:0010442)		18	55271138	55271139	Human
597203681	GWAS1299755_H	wellbeing measurement QTL GWAS1299755 (human)		2e-12	wellness/fitness trait (VT:1000152)		18	55531605	55531606	Human
597232866	GWAS1328940_H	response to surgery QTL GWAS1328940 (human)		0.000006	response to surgery		18	55500289	55500290	Human
597051113	GWAS1147187_H	mood disorder, major depressive disorder QTL GWAS1147187 (human)		1e-10	behavior trait (VT:0010442)		18	55389957	55389958	Human
597211879	GWAS1307953_H	mathematical ability QTL GWAS1307953 (human)		2e-15	cognitive behavior trait (VT:0010450)		18	55437022	55437023	Human
597438691	GWAS1534765_H	autism spectrum disorder, schizophrenia QTL GWAS1534765 (human)		9e-10	behavior trait (VT:0010442)		18	55586179	55586180	Human
597235739	GWAS1331813_H	biological sex QTL GWAS1331813 (human)		4e-13	biological sex		18	55426136	55426137	Human
597290523	GWAS1386597_H	size QTL GWAS1386597 (human)		6e-09	size		18	55484620	55484621	Human
597098003	GWAS1194077_H	schizophrenia QTL GWAS1194077 (human)		2e-13	schizophrenia		18	55532886	55532887	Human
406920647	GWAS569623_H	unipolar depression, mood disorder QTL GWAS569623 (human)		6e-12	unipolar depression, mood disorder		18	55235854	55235855	Human
597029395	GWAS1125469_H	self reported educational attainment QTL GWAS1125469 (human)		1e-12	self reported educational attainment		18	55543071	55543072	Human
407123395	GWAS772371_H	schizophrenia QTL GWAS772371 (human)		3e-12	schizophrenia		18	55532886	55532887	Human
406920648	GWAS569624_H	unipolar depression, mood disorder QTL GWAS569624 (human)		5e-08	unipolar depression, mood disorder		18	55271138	55271139	Human
597401105	GWAS1497179_H	insomnia QTL GWAS1497179 (human)		2e-09	sleep behavior trait (VT:0001501)		18	55230897	55230898	Human
406920650	GWAS569626_H	unipolar depression, mood disorder QTL GWAS569626 (human)		3e-08	unipolar depression, mood disorder		18	55431862	55431863	Human
406920653	GWAS569629_H	unipolar depression, mood disorder QTL GWAS569629 (human)		2e-08	unipolar depression, mood disorder		18	55230988	55230989	Human
597508107	GWAS1604181_H	risk-taking behaviour QTL GWAS1604181 (human)		7e-13	exploratory behavior trait (VT:0010471)		18	55402937	55402938	Human
597248002	GWAS1344076_H	neuroticism measurement QTL GWAS1344076 (human)		4e-08	behavior trait (VT:0010442)		18	55431790	55431791	Human
597136395	GWAS1232469_H	neuroimaging measurement QTL GWAS1232469 (human)		3e-11	nervous system morphology trait (VT:0003632)		18	55253719	55253720	Human
597233157	GWAS1329231_H	major depressive disorder QTL GWAS1329231 (human)		3e-14	major depressive disorder		18	55497462	55497463	Human
596972554	GWAS1092073_H	obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa, major depressive disorder QTL GWAS1092073 (human)		1e-12	obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa, major depressive disorder		18	55434367	55434368	Human
407125476	GWAS774452_H	schizophrenia QTL GWAS774452 (human)		3e-10	schizophrenia		18	55282426	55282427	Human
597115447	GWAS1211521_H	cognitive function measurement QTL GWAS1211521 (human)		2e-10	cognitive behavior trait (VT:0010450)		18	55543071	55543072	Human
597115446	GWAS1211520_H	cognitive function measurement QTL GWAS1211520 (human)		4e-08	cognitive behavior trait (VT:0010450)		18	55437022	55437023	Human
597026356	GWAS1122430_H	loneliness measurement QTL GWAS1122430 (human)		5e-14	emotion/affect behavior trait (VT:0002572)		18	55543071	55543072	Human
597115958	GWAS1212032_H	mathematical ability QTL GWAS1212032 (human)		5e-11	cognitive behavior trait (VT:0010450)		18	55543071	55543072	Human
597226553	GWAS1322627_H	cigarettes per day measurement QTL GWAS1322627 (human)		1e-08	cigarettes per day measurement		18	55584494	55584495	Human
597208122	GWAS1304196_H	cutaneous Leishmaniasis QTL GWAS1304196 (human)		0.000006	response to parasitic infection trait (VT:0010437)		18	55288444	55288445	Human
597115957	GWAS1212031_H	mathematical ability QTL GWAS1212031 (human)		5e-23	cognitive behavior trait (VT:0010450)		18	55374672	55374673	Human
596950577	GWAS1070096_H	mood disorder, major depressive disorder QTL GWAS1070096 (human)		6e-12	mood disorder, major depressive disorder		18	55537633	55537634	Human
597104689	GWAS1200763_H	alopecia QTL GWAS1200763 (human)		2e-09	alopecia		18	55383258	55383259	Human
597257790	GWAS1353864_H	Alzheimer disease, gastroesophageal reflux disease QTL GWAS1353864 (human)		0.000008	stomach integrity trait (VT:0010603)		18	55324905	55324906	Human
597217328	GWAS1313402_H	neuroticism measurement QTL GWAS1313402 (human)		9e-11	behavior trait (VT:0010442)		18	55431862	55431863	Human
597217329	GWAS1313403_H	neuroticism measurement QTL GWAS1313403 (human)		1e-09	behavior trait (VT:0010442)		18	55400723	55400724	Human
597027388	GWAS1123462_H	schizophrenia QTL GWAS1123462 (human)		1e-12	schizophrenia		18	55532886	55532887	Human
597217330	GWAS1313404_H	neuroticism measurement QTL GWAS1313404 (human)		1e-08	behavior trait (VT:0010442)		18	55531605	55531606	Human
597023800	GWAS1119874_H	colorectal cancer QTL GWAS1119874 (human)		0.000005	colorectal cancer		18	55287190	55287191	Human
406918636	GWAS567612_H	balding measurement QTL GWAS567612 (human)		5e-08	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	18	55543071	55543072	Human
407214571	GWAS863547_H	unipolar depression QTL GWAS863547 (human)		1e-10	unipolar depression		18	55431781	55431782	Human
597593649	GWAS1650509_H	platelet count QTL GWAS1650509 (human)		3e-11	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	18	55543071	55543072	Human
407116788	GWAS765764_H	risk-taking behaviour QTL GWAS765764 (human)		1e-13	exploratory behavior trait (VT:0010471)		18	55417069	55417070	Human
407264245	GWAS913221_H	unipolar depression QTL GWAS913221 (human)		3e-14	unipolar depression		18	55497462	55497463	Human
597217325	GWAS1313399_H	neuroticism measurement QTL GWAS1313399 (human)		1e-12	behavior trait (VT:0010442)		18	55389957	55389958	Human
597205549	GWAS1301623_H	neuroticism measurement QTL GWAS1301623 (human)		3e-15	depression-related behavior trait (VT:0015015)		18	55416634	55416635	Human
597205550	GWAS1301624_H	neuroticism measurement QTL GWAS1301624 (human)		3e-12	depression-related behavior trait (VT:0015015)		18	55531605	55531606	Human
597072929	GWAS1169003_H	irritability measurement QTL GWAS1169003 (human)		7e-12	emotion/affect behavior trait (VT:0002572)		18	55441804	55441805	Human
597217327	GWAS1313401_H	neuroticism measurement QTL GWAS1313401 (human)		7e-11	behavior trait (VT:0010442)		18	55497462	55497463	Human
596955690	GWAS1075209_H	physical activity measurement QTL GWAS1075209 (human)		7e-09	physical activity measurement		18	55518861	55518862	Human
597326884	GWAS1422958_H	color vision disorder QTL GWAS1422958 (human)		0.000002	color vision disorder		18	55562530	55562531	Human
597128789	GWAS1224863_H	major depressive disorder QTL GWAS1224863 (human)		1e-10	major depressive disorder		18	55431781	55431782	Human
596950614	GWAS1070133_H	mood disorder, major depressive disorder QTL GWAS1070133 (human)		2e-10	mood disorder, major depressive disorder		18	55497462	55497463	Human
597245008	GWAS1341082_H	coffee consumption measurement, major depressive disorder QTL GWAS1341082 (human)		1e-10	drinking behavior trait (VT:0001422)		18	55434673	55434674	Human
597050975	GWAS1147049_H	prostate carcinoma QTL GWAS1147049 (human)		3e-08	prostate integrity trait (VT:0010571)		18	55563628	55563629	Human
597292617	GWAS1388691_H	lymphocyte count QTL GWAS1388691 (human)		3e-08	lymphocyte quantity (VT:0000717)	blood lymphocyte count (CMO:0000031)	18	55547634	55547635	Human
406920595	GWAS569571_H	unipolar depression, mood disorder QTL GWAS569571 (human)		1e-10	unipolar depression, mood disorder		18	55389957	55389958	Human
597032519	GWAS1128593_H	risk-taking behaviour QTL GWAS1128593 (human)		7e-10	exploratory behavior trait (VT:0010471)		18	55516165	55516166	Human
597026374	GWAS1122448_H	social interaction measurement QTL GWAS1122448 (human)		2e-09	behavior trait (VT:0010442)	voluntary social interaction measurement (CMO:0002676)	18	55543071	55543072	Human
407081878	GWAS730854_H	loneliness measurement QTL GWAS730854 (human)		6e-14	emotion/affect behavior trait (VT:0002572)		18	55585157	55585158	Human
406902167	GWAS551143_H	unipolar depression QTL GWAS551143 (human)		5e-13	unipolar depression		18	55468663	55468664	Human
597211207	GWAS1307281_H	wellbeing measurement QTL GWAS1307281 (human)		8e-12	wellness/fitness trait (VT:1000152)		18	55346716	55346717	Human
596978292	GWAS1097811_H	body height QTL GWAS1097811 (human)		1e-12	body height		18	55403683	55403684	Human
597249146	GWAS1345220_H	neuroticism measurement QTL GWAS1345220 (human)		5e-09	behavior trait (VT:0010442)		18	55253719	55253720	Human
597188733	GWAS1284807_H	major depressive disorder QTL GWAS1284807 (human)		6e-21	major depressive disorder		18	55431781	55431782	Human
597088371	GWAS1184445_H	schizophrenia QTL GWAS1184445 (human)		8e-11	schizophrenia		18	55532886	55532887	Human
596950643	GWAS1070162_H	mood disorder, major depressive disorder QTL GWAS1070162 (human)		1e-10	mood disorder, major depressive disorder		18	55389957	55389958	Human
596950653	GWAS1070172_H	mood disorder, major depressive disorder QTL GWAS1070172 (human)		3e-08	mood disorder, major depressive disorder		18	55431862	55431863	Human
596950649	GWAS1070168_H	mood disorder, major depressive disorder QTL GWAS1070168 (human)		4e-09	mood disorder, major depressive disorder		18	55629696	55629697	Human
596950650	GWAS1070169_H	mood disorder, major depressive disorder QTL GWAS1070169 (human)		6e-12	mood disorder, major depressive disorder		18	55235854	55235855	Human
597112953	GWAS1209027_H	bitter alcoholic beverage consumption measurement QTL GWAS1209027 (human)		0.0000003	drinking behavior trait (VT:0001422)	drink intake measurement (CMO:0000771)	18	55381447	55381448	Human
596950651	GWAS1070170_H	mood disorder, major depressive disorder QTL GWAS1070170 (human)		5e-08	mood disorder, major depressive disorder		18	55271138	55271139	Human
597039225	GWAS1135299_H	risk-taking behaviour QTL GWAS1135299 (human)		2e-14	exploratory behavior trait (VT:0010471)		18	55516165	55516166	Human
597249641	GWAS1345715_H	major depressive disorder QTL GWAS1345715 (human)		6e-09	major depressive disorder		18	55539976	55539977	Human
406983088	GWAS632064_H	unipolar depression QTL GWAS632064 (human)		2e-27	unipolar depression		18	55431781	55431782	Human
407063985	GWAS712961_H	obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa QTL GWAS712961 (human)		3e-10	obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa		18	55532886	55532887	Human
596973664	GWAS1093183_H	major depressive disorder QTL GWAS1093183 (human)		6e-21	major depressive disorder		18	55431781	55431782	Human
596950627	GWAS1070146_H	major depressive disorder QTL GWAS1070146 (human)		5e-08	major depressive disorder		18	55450073	55450074	Human
597208687	GWAS1304761_H	wellbeing measurement QTL GWAS1304761 (human)		2e-08	wellness/fitness trait (VT:1000152)		18	55539976	55539977	Human
596950637	GWAS1070156_H	mood disorder, major depressive disorder QTL GWAS1070156 (human)		4e-17	mood disorder, major depressive disorder		18	55585157	55585158	Human
597293154	GWAS1389228_H	physical activity measurement QTL GWAS1389228 (human)		7e-09	wellness/fitness trait (VT:1000152)	voluntary body mobility/immobility measurement (CMO:0000954)	18	55518861	55518862	Human
597212260	GWAS1308334_H	obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa, major depressive disorder QTL GWAS1308334 (human)		1e-12	behavior trait (VT:0010442)		18	55434367	55434368	Human
597045866	GWAS1141940_H	Abnormality of refraction QTL GWAS1141940 (human)		4e-12	Abnormality of refraction		18	55574906	55574907	Human
407126969	GWAS775945_H	schizophrenia QTL GWAS775945 (human)		0.0000001	schizophrenia		18	55391007	55391008	Human
407065021	GWAS713997_H	obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa QTL GWAS713997 (human)		1e-12	obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa		18	55434367	55434368	Human
597116008	GWAS1212082_H	intraocular pressure measurement QTL GWAS1212082 (human)		5e-17	intraocular pressure (VT:0005257)		18	55519680	55519681	Human

Markers in Region

D18S35

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	53,161,334 - 53,161,437	UniSTS	GRCh37
Celera	18	49,878,000 - 49,878,103	UniSTS
Cytogenetic Map	18	q21.1	UniSTS
HuRef	18	49,871,583 - 49,871,686	UniSTS
Marshfield Genetic Map	18	77.36	RGD
Marshfield Genetic Map	18	77.36	UniSTS
deCODE Assembly Map	18	76.38	UniSTS

D18S1119

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	53,205,159 - 53,205,318	UniSTS	GRCh37
Build 36	18	51,356,157 - 51,356,316	RGD	NCBI36
Celera	18	49,922,452 - 49,922,611	RGD
Cytogenetic Map	18	q21.1	UniSTS
HuRef	18	49,915,415 - 49,915,572	UniSTS
Marshfield Genetic Map	18	77.36	UniSTS
Marshfield Genetic Map	18	77.36	RGD
Genethon Genetic Map	18	76.1	UniSTS
deCODE Assembly Map	18	76.38	UniSTS
GeneMap99-GB4 RH Map	18	366.94	UniSTS
Whitehead-YAC Contig Map	18		UniSTS
NCBI RH Map	18	630.1	UniSTS

RH12446

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	52,993,439 - 52,993,627	UniSTS	GRCh37
Build 36	18	51,144,437 - 51,144,625	RGD	NCBI36
Celera	18	49,710,807 - 49,710,995	RGD
Cytogenetic Map	18	q21.1	UniSTS
HuRef	18	49,703,057 - 49,703,245	UniSTS
GeneMap99-GB4 RH Map	18	371.22	UniSTS
NCBI RH Map	18	630.1	UniSTS

SGC30723

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	52,950,458 - 52,950,583	UniSTS	GRCh37
Build 36	18	51,101,456 - 51,101,581	RGD	NCBI36
Celera	18	49,667,826 - 49,667,951	RGD
Cytogenetic Map	18	q21.1	UniSTS
HuRef	18	49,660,075 - 49,660,200	UniSTS
GeneMap99-GB4 RH Map	18	373.0	UniSTS
Whitehead-RH Map	18	407.6	UniSTS
NCBI RH Map	18	630.1	UniSTS

AFM357td5

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	53,181,466 - 53,181,707	UniSTS	GRCh37
Build 36	18	51,332,464 - 51,332,705	RGD	NCBI36
Celera	18	49,898,132 - 49,898,369	RGD
Cytogenetic Map	18	q21.1	UniSTS
HuRef	18	49,891,716 - 49,891,961	UniSTS
Whitehead-RH Map	18	403.6	UniSTS
Whitehead-YAC Contig Map	18		UniSTS
NCBI RH Map	18	630.1	UniSTS

RH92749

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	52,896,800 - 52,896,922	UniSTS	GRCh37
Build 36	18	51,047,798 - 51,047,920	RGD	NCBI36
Celera	18	49,614,170 - 49,614,292	RGD
Cytogenetic Map	18	q21.1	UniSTS
HuRef	18	49,606,463 - 49,606,585	UniSTS
GeneMap99-GB4 RH Map	18	372.26	UniSTS

RH103297

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	52,928,460 - 52,928,605	UniSTS	GRCh37
Build 36	18	51,079,458 - 51,079,603	RGD	NCBI36
Celera	18	49,645,828 - 49,645,973	RGD
Cytogenetic Map	18	q21.1	UniSTS
HuRef	18	49,638,076 - 49,638,221	UniSTS
GeneMap99-GB4 RH Map	18	370.08	UniSTS

SHGC-81668

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	53,000,400 - 53,000,676	UniSTS	GRCh37
Build 36	18	51,151,398 - 51,151,674	RGD	NCBI36
Celera	18	49,717,767 - 49,718,043	RGD
Cytogenetic Map	18	q21.1	UniSTS
HuRef	18	49,710,018 - 49,710,294	UniSTS
TNG Radiation Hybrid Map	18	21412.0	UniSTS

SHGC-84194

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	52,995,257 - 52,995,573	UniSTS	GRCh37
Build 36	18	51,146,255 - 51,146,571	RGD	NCBI36
Celera	18	49,712,624 - 49,712,940	RGD
Cytogenetic Map	18	q21.1	UniSTS
HuRef	18	49,704,875 - 49,705,191	UniSTS
TNG Radiation Hybrid Map	18	21412.0	UniSTS

RH121599

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	53,137,046 - 53,137,325	UniSTS	GRCh37
Build 36	18	51,288,044 - 51,288,323	RGD	NCBI36
Celera	18	49,853,712 - 49,853,991	RGD
Cytogenetic Map	18	q21.1	UniSTS
HuRef	18	49,847,295 - 49,847,574	UniSTS
TNG Radiation Hybrid Map	18	21447.0	UniSTS

D18S76E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	53,087,823 - 53,087,941	UniSTS	GRCh37
GRCh37	18	53,087,727 - 53,087,878	UniSTS	GRCh37
Build 36	18	51,238,821 - 51,238,939	RGD	NCBI36
Celera	18	49,804,372 - 49,804,523	UniSTS
Celera	18	49,804,468 - 49,804,586	RGD
Cytogenetic Map	18	q21.1	UniSTS
HuRef	18	49,798,026 - 49,798,144	UniSTS
HuRef	18	49,797,930 - 49,798,081	UniSTS
TNG Radiation Hybrid Map	18	21479.0	UniSTS
GeneMap99-G3 RH Map	18	2017.0	UniSTS

SHGC-147092

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	53,122,780 - 53,123,128	UniSTS	GRCh37
Build 36	18	51,273,778 - 51,274,126	RGD	NCBI36
Celera	18	49,839,443 - 49,839,791	RGD
Cytogenetic Map	18	q21.1	UniSTS
HuRef	18	49,833,004 - 49,833,352	UniSTS
TNG Radiation Hybrid Map	18	21458.0	UniSTS

RH12470

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	52,891,517 - 52,891,652	UniSTS	GRCh37
Build 36	18	51,042,515 - 51,042,650	RGD	NCBI36
Celera	18	49,608,887 - 49,609,022	RGD
Cytogenetic Map	18	q21.1	UniSTS
HuRef	18	49,601,180 - 49,601,315	UniSTS
GeneMap99-GB4 RH Map	18	372.48	UniSTS
NCBI RH Map	18	630.1	UniSTS

WI-21824

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	52,892,395 - 52,892,666	UniSTS	GRCh37
Build 36	18	51,043,393 - 51,043,664	RGD	NCBI36
Celera	18	49,609,765 - 49,610,036	RGD
Cytogenetic Map	18	q21.1	UniSTS
HuRef	18	49,602,058 - 49,602,329	UniSTS
GeneMap99-GB4 RH Map	18	373.53	UniSTS
Whitehead-RH Map	18	401.2	UniSTS

PMC97633P1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	53,253,234 - 53,253,493	UniSTS	GRCh37
Build 36	18	51,404,232 - 51,404,491	RGD	NCBI36
Celera	18	49,970,529 - 49,970,752	RGD
Cytogenetic Map	18	q21.1	UniSTS
HuRef	18	49,963,491 - 49,963,759	UniSTS

D18S1309

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	53,007,454 - 53,007,595	UniSTS	GRCh37
Build 36	18	51,158,452 - 51,158,593	RGD	NCBI36
Celera	18	49,724,821 - 49,724,962	RGD
Cytogenetic Map	18	q21.1	UniSTS
HuRef	18	49,717,072 - 49,717,213	UniSTS
Stanford-G3 RH Map	18	2017.0	UniSTS
GeneMap99-G3 RH Map	18	2017.0	UniSTS

RH70760

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	52,928,467 - 52,928,664	UniSTS	GRCh37
Build 36	18	51,079,465 - 51,079,662	RGD	NCBI36
Celera	18	49,645,835 - 49,646,032	RGD
Cytogenetic Map	18	q21.1	UniSTS
HuRef	18	49,638,083 - 49,638,280	UniSTS
GeneMap99-GB4 RH Map	18	370.08	UniSTS
NCBI RH Map	18	630.1	UniSTS

D18S1030

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	53,007,353 - 53,007,464	UniSTS	GRCh37
Build 36	18	51,158,351 - 51,158,462	RGD	NCBI36
Celera	18	49,724,720 - 49,724,831	RGD
Cytogenetic Map	18	q21.1	UniSTS
HuRef	18	49,716,971 - 49,717,082	UniSTS
GeneMap99-GB4 RH Map	18	371.43	UniSTS
Whitehead-RH Map	18	412.2	UniSTS
Whitehead-YAC Contig Map	18		UniSTS
NCBI RH Map	18	630.1	UniSTS

SHGC-57835

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	52,928,372 - 52,928,712	UniSTS	GRCh37
Build 36	18	51,079,370 - 51,079,710	RGD	NCBI36
Celera	18	49,645,740 - 49,646,080	RGD
Cytogenetic Map	18	q21.1	UniSTS
HuRef	18	49,637,988 - 49,638,328	UniSTS
TNG Radiation Hybrid Map	18	21378.0	UniSTS

D18S1295

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	52,943,781 - 52,943,873	UniSTS	GRCh37
Build 36	18	51,094,779 - 51,094,871	RGD	NCBI36
Celera	18	49,661,149 - 49,661,241	RGD
Cytogenetic Map	18	q21.1	UniSTS
HuRef	18	49,653,397 - 49,653,489	UniSTS
TNG Radiation Hybrid Map	18	21371.0	UniSTS
Stanford-G3 RH Map	18	2021.0	UniSTS
GeneMap99-G3 RH Map	18	2021.0	UniSTS

D18S837

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	53,090,570 - 53,090,746	UniSTS	GRCh37
Build 36	18	51,241,568 - 51,241,744	RGD	NCBI36
Celera	18	49,807,215 - 49,807,391	RGD
Cytogenetic Map	18	q21.1	UniSTS
HuRef	18	49,800,773 - 49,800,949	UniSTS
Whitehead-RH Map	18	407.6	UniSTS
NCBI RH Map	18	630.1	UniSTS

SHGC-64012

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	52,893,704 - 52,893,894	UniSTS	GRCh37
Build 36	18	51,044,702 - 51,044,892	RGD	NCBI36
Celera	18	49,611,074 - 49,611,264	RGD
Cytogenetic Map	18	q21.1	UniSTS
HuRef	18	49,603,367 - 49,603,557	UniSTS
TNG Radiation Hybrid Map	18	21342.0	UniSTS

L29703

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	53,029,272 - 53,029,706	UniSTS	GRCh37
Build 36	18	51,180,270 - 51,180,704	RGD	NCBI36
Celera	18	49,746,639 - 49,747,077	RGD
Cytogenetic Map	18	q21.1	UniSTS
HuRef	18	49,738,890 - 49,739,328	UniSTS

D18S76E

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	18	q21.1	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2382	2788	2251	4950	1722	2321	3	619	1940	460	2246	7242	6455	53	3733	1	844	1719	1594	174	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_011716	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001083962	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001243226	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001243227	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001243228	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001243230	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001243231	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001243232	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001243233	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001243234	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001243235	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001243236	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001306207	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001306208	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001330604	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001330605	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001348211	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001348212	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001348213	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001348214	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001348215	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001348216	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001348217	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001348218	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001348219	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001348220	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001369567	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001369568	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001369569	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001369570	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001369571	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001369572	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001369573	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001369574	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001369575	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001369576	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001369577	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001369578	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001369579	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001369580	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001369581	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001369582	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001369583	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001369584	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001369585	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001369586	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_003199	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB209741	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC013587	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC018994	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC090383	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC090684	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC091103	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK021980	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK026674	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK095041	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK095066	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK096862	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK122765	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK299169	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK300038	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK300612	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK300636	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK301144	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315074	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK316165	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL518903	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC031056	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC125084	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC125085	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BJ989626	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM011452	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP293388	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471096	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068260	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA664480	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB047766	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB451911	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC298029	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC358599	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FR748202	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FR748203	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FR748204	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FR748205	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FR748206	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FR748207	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FR748208	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FR748209	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FR748210	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FR748211	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FR748212	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FR748213	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FR748214	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FR748215	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FR748216	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FR748217	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FR748218	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FR748219	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FR748220	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FR748221	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FR748222	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FR748223	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY051304	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF459816	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M74718	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M74719	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M74720	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U75701	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X52079	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000354452 ⟹ ENSP00000346440

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,222,185 - 55,588,192 (-)	Ensembl

Ensembl Acc Id:

ENST00000356073 ⟹ ENSP00000348374

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,222,334 - 55,588,629 (-)	Ensembl

Ensembl Acc Id:

ENST00000398339 ⟹ ENSP00000381382

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,227,936 - 55,636,027 (-)	Ensembl

Ensembl Acc Id:

ENST00000457482 ⟹ ENSP00000409447

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,227,683 - 55,322,222 (-)	Ensembl

Ensembl Acc Id:

ENST00000537578 ⟹ ENSP00000440731

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,227,752 - 55,589,836 (-)	Ensembl

Ensembl Acc Id:

ENST00000537856 ⟹ ENSP00000439827

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,227,849 - 55,401,757 (-)	Ensembl

Ensembl Acc Id:

ENST00000540999 ⟹ ENSP00000445202

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,227,690 - 55,586,105 (-)	Ensembl

Ensembl Acc Id:

ENST00000543082 ⟹ ENSP00000439656

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,227,689 - 55,510,772 (-)	Ensembl

Ensembl Acc Id:

ENST00000544241 ⟹ ENSP00000441562

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,227,855 - 55,403,995 (-)	Ensembl

Ensembl Acc Id:

ENST00000561831 ⟹ ENSP00000457765

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,227,878 - 55,302,626 (-)	Ensembl

Ensembl Acc Id:

ENST00000561992 ⟹ ENSP00000455179

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,227,864 - 55,422,492 (-)	Ensembl

Ensembl Acc Id:

ENST00000562030 ⟹ ENSP00000456220

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,261,528 - 55,401,525 (-)	Ensembl

Ensembl Acc Id:

ENST00000562543 ⟹ ENSP00000455450

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,350,955 - 55,591,276 (-)	Ensembl

Ensembl Acc Id:

ENST00000562607 ⟹ ENSP00000455071

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,269,872 - 55,401,093 (-)	Ensembl

Ensembl Acc Id:

ENST00000562638 ⟹ ENSP00000456802

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,275,662 - 55,401,712 (-)	Ensembl

Ensembl Acc Id:

ENST00000562680

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,227,841 - 55,402,039 (-)	Ensembl

Ensembl Acc Id:

ENST00000562847 ⟹ ENSP00000454866

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,350,967 - 55,585,966 (-)	Ensembl

Ensembl Acc Id:

ENST00000563686

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,264,596 - 55,464,137 (-)	Ensembl

Ensembl Acc Id:

ENST00000563760

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,254,504 - 55,321,810 (-)	Ensembl

Ensembl Acc Id:

ENST00000563824 ⟹ ENSP00000457113

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,350,360 - 55,585,773 (-)	Ensembl

Ensembl Acc Id:

ENST00000563888 ⟹ ENSP00000457747

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,350,395 - 55,586,104 (-)	Ensembl

Ensembl Acc Id:

ENST00000564228 ⟹ ENSP00000455261

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,227,911 - 55,403,714 (-)	Ensembl

Ensembl Acc Id:

ENST00000564343 ⟹ ENSP00000454328

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,350,896 - 55,591,279 (-)	Ensembl

Ensembl Acc Id:

ENST00000564403 ⟹ ENSP00000457263

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,227,936 - 55,589,839 (-)	Ensembl

Ensembl Acc Id:

ENST00000564999 ⟹ ENSP00000457649

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,226,646 - 55,588,625 (-)	Ensembl

Ensembl Acc Id:

ENST00000565018 ⟹ ENSP00000455984

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,227,911 - 55,589,777 (-)	Ensembl

Ensembl Acc Id:

ENST00000565124 ⟹ ENSP00000457082

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,464,115 - 55,635,948 (-)	Ensembl

Ensembl Acc Id:

ENST00000565393 ⟹ ENSP00000454441

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,585,317 - 55,631,362 (-)	Ensembl

Ensembl Acc Id:

ENST00000565580

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,275,627 - 55,546,934 (-)	Ensembl

Ensembl Acc Id:

ENST00000565908 ⟹ ENSP00000454584

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,275,707 - 55,588,213 (-)	Ensembl

Ensembl Acc Id:

ENST00000566279 ⟹ ENSP00000456125

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,227,911 - 55,588,617 (-)	Ensembl

Ensembl Acc Id:

ENST00000566286 ⟹ ENSP00000455418

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,227,911 - 55,588,535 (-)	Ensembl

Ensembl Acc Id:

ENST00000566376

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,332,067 - 55,403,505 (-)	Ensembl

Ensembl Acc Id:

ENST00000566514 ⟹ ENSP00000456983

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,269,851 - 55,585,862 (-)	Ensembl

Ensembl Acc Id:

ENST00000566777 ⟹ ENSP00000457245

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,269,960 - 55,422,355 (-)	Ensembl

Ensembl Acc Id:

ENST00000567880 ⟹ ENSP00000454366

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,227,911 - 55,587,116 (-)	Ensembl

Ensembl Acc Id:

ENST00000568147 ⟹ ENSP00000455163

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,350,376 - 55,585,968 (-)	Ensembl

Ensembl Acc Id:

ENST00000568169 ⟹ ENSP00000457392

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,269,924 - 55,664,787 (-)	Ensembl

Ensembl Acc Id:

ENST00000568186 ⟹ ENSP00000458122

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,275,660 - 55,403,660 (-)	Ensembl

Ensembl Acc Id:

ENST00000568673 ⟹ ENSP00000455135

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,227,679 - 55,585,908 (-)	Ensembl

Ensembl Acc Id:

ENST00000568740 ⟹ ENSP00000455346

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,227,846 - 55,589,806 (-)	Ensembl

Ensembl Acc Id:

ENST00000569012 ⟹ ENSP00000455304

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,269,875 - 55,401,551 (-)	Ensembl

Ensembl Acc Id:

ENST00000569357 ⟹ ENSP00000454352

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,350,994 - 55,635,892 (-)	Ensembl

Ensembl Acc Id:

ENST00000570146 ⟹ ENSP00000468729

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,259,621 - 55,275,671 (-)	Ensembl

Ensembl Acc Id:

ENST00000570177 ⟹ ENSP00000454647

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,227,984 - 55,402,240 (-)	Ensembl

Ensembl Acc Id:

ENST00000570287 ⟹ ENSP00000455763

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,226,644 - 55,321,986 (-)	Ensembl

Ensembl Acc Id:

ENST00000590810 ⟹ ENSP00000468277

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,350,359 - 55,402,039 (-)	Ensembl

Ensembl Acc Id:

ENST00000616053 ⟹ ENSP00000478549

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,222,331 - 55,588,629 (-)	Ensembl

Ensembl Acc Id:

ENST00000625716

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,350,944 - 55,546,896 (-)	Ensembl

Ensembl Acc Id:

ENST00000625925 ⟹ ENSP00000487413

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,269,958 - 55,422,297 (-)	Ensembl

Ensembl Acc Id:

ENST00000626425 ⟹ ENSP00000486111

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,279,594 - 55,585,852 (-)	Ensembl

Ensembl Acc Id:

ENST00000626466

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,228,260 - 55,257,495 (-)	Ensembl

Ensembl Acc Id:

ENST00000626584 ⟹ ENSP00000486072

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,228,225 - 55,422,356 (-)	Ensembl

Ensembl Acc Id:

ENST00000626595 ⟹ ENSP00000487415

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,275,745 - 55,588,619 (-)	Ensembl

Ensembl Acc Id:

ENST00000626631 ⟹ ENSP00000487505

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,227,849 - 55,228,955 (-)	Ensembl

Ensembl Acc Id:

ENST00000627136

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,259,995 - 55,585,856 (-)	Ensembl

Ensembl Acc Id:

ENST00000627320 ⟹ ENSP00000487557

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,461,034 - 55,635,972 (-)	Ensembl

Ensembl Acc Id:

ENST00000627568

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,495,628 - 55,588,243 (-)	Ensembl

Ensembl Acc Id:

ENST00000627685 ⟹ ENSP00000487171

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,275,724 - 55,586,242 (-)	Ensembl

Ensembl Acc Id:

ENST00000627784 ⟹ ENSP00000487150

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,350,902 - 55,588,150 (-)	Ensembl

Ensembl Acc Id:

ENST00000628078 ⟹ ENSP00000486909

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,260,006 - 55,404,087 (-)	Ensembl

Ensembl Acc Id:

ENST00000628360

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,261,090 - 55,269,849 (-)	Ensembl

Ensembl Acc Id:

ENST00000628391

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,585,292 - 55,635,721 (-)	Ensembl

Ensembl Acc Id:

ENST00000628636 ⟹ ENSP00000485755

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,259,954 - 55,422,241 (-)	Ensembl

Ensembl Acc Id:

ENST00000628689 ⟹ ENSP00000487010

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,254,609 - 55,321,835 (-)	Ensembl

Ensembl Acc Id:

ENST00000629343 ⟹ ENSP00000486148

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,257,362 - 55,422,268 (-)	Ensembl

Ensembl Acc Id:

ENST00000629387 ⟹ ENSP00000486670

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,226,793 - 55,589,807 (-)	Ensembl

Ensembl Acc Id:

ENST00000630224 ⟹ ENSP00000487134

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,461,097 - 55,635,957 (-)	Ensembl

Ensembl Acc Id:

ENST00000630268 ⟹ ENSP00000486405

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,269,898 - 55,402,206 (-)	Ensembl

Ensembl Acc Id:

ENST00000630319 ⟹ ENSP00000486215

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,269,914 - 55,585,481 (-)	Ensembl

Ensembl Acc Id:

ENST00000630712 ⟹ ENSP00000487419

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,275,632 - 55,422,512 (-)	Ensembl

Ensembl Acc Id:

ENST00000630720 ⟹ ENSP00000487218

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,234,606 - 55,322,345 (-)	Ensembl

Ensembl Acc Id:

ENST00000630828 ⟹ ENSP00000486974

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,269,858 - 55,403,764 (-)	Ensembl

Ensembl Acc Id:

ENST00000631043

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,275,697 - 55,423,621 (-)	Ensembl

Ensembl Acc Id:

ENST00000635822 ⟹ ENSP00000490451

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,222,335 - 55,588,226 (-)	Ensembl

Ensembl Acc Id:

ENST00000635990

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,222,335 - 55,351,316 (-)	Ensembl

Ensembl Acc Id:

ENST00000636400 ⟹ ENSP00000490006

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,222,334 - 55,589,778 (-)	Ensembl

Ensembl Acc Id:

ENST00000636710

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,461,101 - 55,469,661 (-)	Ensembl

Ensembl Acc Id:

ENST00000636751 ⟹ ENSP00000489783

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,222,335 - 55,589,846 (-)	Ensembl

Ensembl Acc Id:

ENST00000636822 ⟹ ENSP00000490883

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,222,335 - 55,384,196 (-)	Ensembl

Ensembl Acc Id:

ENST00000637068

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,279,566 - 55,320,881 (-)	Ensembl

Ensembl Acc Id:

ENST00000637115 ⟹ ENSP00000490234

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,222,335 - 55,588,153 (-)	Ensembl

Ensembl Acc Id:

ENST00000637169 ⟹ ENSP00000490832

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,222,335 - 55,321,640 (-)	Ensembl

Ensembl Acc Id:

ENST00000637239

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,222,335 - 55,553,421 (-)	Ensembl

Ensembl Acc Id:

ENST00000637250

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,222,335 - 55,400,917 (-)	Ensembl

Ensembl Acc Id:

ENST00000637500

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,403,512 - 55,404,435 (-)	Ensembl

Ensembl Acc Id:

ENST00000637923 ⟹ ENSP00000490329

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,222,335 - 55,321,694 (-)	Ensembl

Ensembl Acc Id:

ENST00000637941

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,550,261 - 55,589,746 (-)	Ensembl

Ensembl Acc Id:

ENST00000638154 ⟹ ENSP00000490625

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,222,335 - 55,587,349 (-)	Ensembl

Ensembl Acc Id:

ENST00000643689 ⟹ ENSP00000494380

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,222,334 - 55,352,023 (-)	Ensembl

Ensembl Acc Id:

ENST00000674598

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,402,451 - 55,589,746 (-)	Ensembl

Ensembl Acc Id:

ENST00000674764 ⟹ ENSP00000502213

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,227,887 - 55,510,684 (-)	Ensembl

Ensembl Acc Id:

ENST00000675707 ⟹ ENSP00000501758

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	55,227,856 - 55,423,757 (-)	Ensembl

RefSeq Acc Id:

NM_001083962 ⟹ NP_001077431

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,588,192 (-)	NCBI
GRCh37	18	52,889,562 - 53,303,252 (-)	NCBI
Build 36	18	51,040,560 - 51,406,858 (-)	NCBI Archive
HuRef	18	49,599,225 - 50,013,477 (-)	NCBI
CHM1_1	18	52,884,825 - 53,251,090 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,791,244 (-)	NCBI

Sequence:

show sequence

GCGGATCTGTAGTGGCGGCGGCGGCGGCGGCGGCGGGGAGGCAGCAGGCGCGGGAGCGGGCGCA
GGAGCAGGCGGCGGCGGTGGCGGCGGCGGTTAGACATGAACGCCGCCTCGGCGCCGGCGGTGCA
CGGAGAGCCCCTTCTCGCGCGCGGGCGGTTTGTGTGATTTTGCTAAAATGCATCACCAACAGCG
AATGGCTGCCTTAGGGACGGACAAAGAGCTGAGTGATTTACTGGATTTCAGTGCGATGTTTTCA
CCTCCTGTGAGCAGTGGGAAAAATGGACCAACTTCTTTGGCAAGTGGACATTTTACTGGCTCAA
ATGTAGAAGACAGAAGTAGCTCAGGGTCCTGGGGGAATGGAGGACATCCAAGCCCGTCCAGGAA
CTATGGAGATGGGACTCCCTATGACCACATGACCAGCAGGGACCTTGGGTCACATGACAATCTC
TCTCCACCTTTTGTCAATTCCAGAATACAAAGTAAAACAGAAAGGGGCTCATACTCATCTTATG
GGAGAGAATCAAACTTACAGGGTTGCCACCAGCAGAGTCTCCTTGGAGGTGACATGGATATGGG
CAACCCAGGAACCCTTTCGCCCACCAAACCTGGTTCCCAGTACTATCAGTATTCTAGCAATAAT
CCCCGAAGGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGACAAAGAAAGTTCGAAAAGTTC
CTCCAGGTTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCACTGCCGACTACAATAGGGACTC
GCCAGGCTATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCTAGCTCCTTCTTCATGCAAGAT
GGCCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTGGCTATGCAGGAA
TGTTGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCATCCACATGAACG
TTTGAGCTATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCGATGTCCACTTTC
CATCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCCAACGGGACAGACA
GTATAATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCAGACTGGAGATGCTCTGGGGAA
AGCACTTGCTTCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATCAAACCCTTCAACT
CCTGTTGGCTCTCCTCCATCTCTCTCAGCAGGCACAGCTGTTTGGTCTAGAAATGGAGGACAGG
CCTCATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCGAATTGAAGATCGTTT
AGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATG
CCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTC
TGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTGGGGACCCA
TCGTGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTGCCAAACCAGGTTCCGGTTCCA
CAGCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCACCCCAGGACCCTTACAGAGGCA
TGCCACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTCTGAGATCAAATCCGATGACGA
GGGTGATGAGAACCTGCAAGACACGAAATCTTCGGAGGACAAGAAATTAGATGACGACAAGAAG
GATATCAAATCAATTACTAGGTCAAGATCTAGCAATAATGACGATGAGGACCTGACACCAGAGC
AGAAGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCGTCTGCGGGTCCG
TGACATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCTCAAGAGTGACAAG
CCCCAGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAGTCTGGAGCAGCAAG
TCCGAGAAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGGAAGAGAAGGTGTC
CTCAGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGAATGGGAGACGCATCGAATCAC
ATGGGACAGATGTAAAAGGGTCCAAGTTGCCACATTGCTTCATTAAAACAAGAGACCACTTCCT
TAACAGCTGTATTATCTTAAACCCACATAAACACTTCTCCTTAACCCCCATTTTTGTAATATAA
GACAAGTCTGAGTAGTTATGAATCGCAGACGCAAGAGGTTTCAGCATTCCCAATTATCAAAAAA
CAGAAAAACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGACGACTTTCTTTAACATATCAT
TCAGAATGTGCAAAGCAGTATGTACAGGCTGAGACACAGCCCAGAGACTGAACGGCAATCTTTC
CACACTGTGGAACAATGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAAAATATAATTAATTTG
TAAGTCTGAAAAAAAAATATTTAATTTAAAAAAAATTGTAAACTTGCAATAATGAAAAAGTGTA
CTTCTGAAGAAAACTACATGAACGTTTTTGTTGGTATTCAAGTCAGCTAGTGTTTATAATTACT
GGATATTGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAAACGTCCTGATGACAA
CGAAGTGATGACATTAGCCATTCCTTAGGGTAGGAGGAACAGATGGATCTTATAGACCTATGAC
AAATATATATATAAATATATATATAAATATATATTAAAAATTTAGTGACTATGGTAAGCTTTTG
TTCATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGTACTGATTAACTTTTTTAAAAGAAA
GATTTTACTGTAAATATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCCCTTTCCCTGGTTTGT
TATCGTAACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGATGAAATGCTGACCCTG
ATGTTGCTTCTCATTCATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTTGGGAACACAGGACT
TAAAAGTCACATCATGTGTAGATATTACAAGCAGCATTACCAAGACATGGCAAAAAGAGTTTGT
CTGAATTGTAATGTTGCGTTTGTGAACCTATTCTGGGATTTTCAGAGGTACAAGGTTAGAATGC
TACAATGTTACCACTGTGCCTTCCAATGTTTATATCATCGGAAACATAACATAATCAAAGTGGC
TGTGATTTAACAAAATGATTAAAGTGTTACCTACCTGTGTAGCCGAAGTAGTGTGCAGTGAGGC
GTTTCTGAATACATGGTCAGATTTTTGGAAAAAAACAAAAACAAAAAAAACAAGTAAAGTTCAA
AAACCGTCAAATGAGAAAATTGCAAGTAGTGTGACAGAGCTGATTGATTTTGTTGCTTTCTTGA
TTTTTTTTTTCAAAATGGGTTTACTAAAATGTAGATGACTTAACTGCCTCCTCCTTCGTCTGAA
AAATGCCAATATTCAATCATCATGCAGCATTATAACAAGCCTTATAAGTCCTAAAGCATTAAGT
TGCACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAATGAAGTTTATACTTA
CCATATTTGATAGAAACATAGATCAAGCTATGGCACAGCGACTCATCAGATAGCTAGCTTTGAC
GTCTGGGCACAATTGAACCAACTTCCATCGTGAATCTTTATAATGATTGACTTTGGTGTATAGT
GCAGTAAACAAATAGTGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTGTCTCTAACTTGTTTC
TATTTTTACAGCCACACAATTCTTGGCATGTATTAAGAAAAAAAAAAATCCCTGTTCAAGTAGT
TTTTCCACCTATCAGCACTGAGTAAATGCCATAAATCCATTGAAATGGTCTAAATGTTCCATCT
GTTCTCCTGTTTTGCCAGTTATATAGTAATGAAATACATTTGTAAATTTTATGCAACAAATGGC
AAACGTATCATTATTTTGAAATTGTGTATGTAAAAGTTATATTTTTACATGTAGACTCTTGTTA
TTATGTGTTTTAATACATTGTATCAGTTTTTGTTTTTTTTTAAAAACTGTGGTTTAAAAAGAAG
TCTCATTTAAATGAAATAGCTACAAGAATCAGAATTTTATGTTCATTTCTGAAAATGTAAGAAC
AAATAAGATAGTTACCACGTGGTCATCTTTTACAAACCCATAAACATTTTGATTAGCTGTGTGT
GTGTTGAAAAACTGTAAATATGTTCAGTAGCGATAAAACTAAAATAACTTTGATTTGTTGATAA
GTTCCTAAAATGTGGAGGTGGATTAAAACCTTAGGAGAATAGCAGAAATCAAACTTCATGAAAA
GTTATTTTGGGGCTTTCCTGTGAAATGTATGAACAAAGAGGCTCAGAGAAGGACATGGAAGACA
ATAATGTATACTCTCTCCTCCTCCCTGAATAATGAAAACCATGTGTATTTGTTCCCTCCGTATG
TTAAAGATTTCCTTTTAGTGGTACATTCTGCACTCATTTTGTATAGTCTACCAAGGCGGGTATC
CCTAGGAACAATATTATATAGGAAGCAGGTATACTCTGATCACATTCAGGATAAGTGTACAGAA
GAAAATACGGTGTTTACTCTTTAGGGAACTGGAAACACTCCCTGCATTGATGTACATTTTAAGA
ATGGCACTTTTGATACATGTTATCATAAAGGTGCTTAATAGAGCTGAATTAAAGTTTTTCAAAT
CTGTAAACAAAGCAAAAAAGTAAATTGTAGTCATTTGATTATTTTTTAAATTGGTGCTTTATAT
TTTGTTCTCACTCAGAGTAAAAGCTGCAATTTATTGTTCACCAGCTTTGATGTATTCATTACTC
AGTAATGCAATACCTCTATTGTTGAATTCCCTTTGGAAATAAGTGAAAATTCTAACGGCCACTG
AAAGCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACATAATCTGCACCTATCCATATTAATTGGG
TTGTATCCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTGTTTTTTATTGTTGT
TGTTTTGTAATTATCAAACCCAGGTAAGATATTGGTATCCTGCACTGGATTTTCAAATGAAGTT
CAGCAGAAGACAGTTAAGATTAAAGTACTATACAAAAATTTCAAAAGGGTCCATACTACGCTAT
CTGTATGACGACACTTAGGCTGGGGATCTCTTTCAGAAACTCGGACTTTAAAAGCAACTTGGAG
CAGTTGATCCACCTCCACATTCAAGTAATTTATGAATATGCAGAATAGGGATCTGTTCATCTAG
AAATTTTTACCATTTGTCTTCTGTGTAGCTGCAAGGAACACTAATGTTTATACAACTGTCAGTC
CACCCAGTGGTGCAACTGGTTCTGATTCAGTCTTCCGATTCCTTTTTATTTTTCACTTTTTCCT
ATTTCTGAATTTTTTTTTTTATTTGTGATCTTGATTTTGATGAGGGGTTGGGGAGTGGGGAGGG
AGTCGAACCAAGACTTGGAGTTAAGAGGATTTTCATCTTTTGCATCCAACAGGCAGAATATGAT
CTGTGTCCAAAAGTGAACTTGAGTCAGGAATGAATCAATTTCAGCATAAACAAGCACAAAAATT
TAGTCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGAATATGATGAATTCCAACACAATGG
GGCACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTGTTTTTCTTTAGAGA
CATGCTCTTTCTCATGGGACTTGAAGTGGACTCATCTTTGTGCAGTGCTGGTTTTGCCATACTC
ATTTCAAGTATTATAGACATATGTAATGGTGAAAATATATGAACTGTGGCCTTTTTCATTCTTG
TTACTTGTGATGCAATTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGAGATTTACCATGTAT
CAGTGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCTATAAAATAGACTG
TAGTACACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAAAATAAAAAATATATTTGGCTTATT
TTTCGCAGGAGCAATCCTTTTATACCATGAATATTACAAAAAAATTGTCAGATTCTGAATATTT
CTTCTTTGTAGATTTTTGGAATCATTATGAGTAAAAGTTTGTTACTTTATTTTACTATTTAAAA
GATGTTATTTTACCATGTGTTACCAAGATGAAACTGTATGGGTAGCTTTTTTGTTTGTTTTTTG
TTTTGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAATTTTTTGCGACTG
TACACATAGCTGCAGCATTAAAAACTTAAAAAAATTGTTAAAAAAAAAAAAAGGGAAAACATTT
CAAAAAAAAAAAAAAAGATAAACAGTTACACCTTGTTTTCAATGTGTGGCTGAGTGCCTCGATT
TTTTCATGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTCCAAACAGGTTGTGTGCTGGAGTTC
CTTCAAGACAAAAACAAACCCAGCTTGGTCAAGGCCATTACCTGTTTCCCATCTGTAGTTATTC
GATGAAGTCATGTACATGACCGTTCTGTAGCAATAAATGTGCCATTTTTATAAACTGTTTCTGA
CACTTGTTTCATTTCATTTTGCATTGTCCATATAGCTATGATTCTCTTCTGTAAGTAAAACGCA
TCTATATTTCATTTTCCAAGTGTTGGAGGTATTGACAGCTTAACAAACAAAACATACAAAAAAA
ATCACAAAAACAAATTGAAAAGCAAAGCACATGATTGATCAAGGAAGAGATGCCCTTAATGAAA
ATGGAACGGGATGCATGCAAAACAAAAAGAAAACTGTCTAGAGGATTAACTAATTGAAGGAATA
TAATTAATGTGTGTGTAACACTGAAGCTATGCATTTGAAGAGCTCTGAACTGCACCAGTGTTTT
CGGTTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACCAGTTGGTCGGCTGTT
TGGCAGAACATTCTCAGATCTTTTCAGTCAAAAATCTAAGATGATTTATTTTGTATCACTTTGT
TAAAAGCTGAATATTGTTAACTACAGTTAATATTAACACTGTATTTATACTTTCTCAAACTACA
TCCGCCCCACCACTTCTGGTTGCCTCTGTTGACTATTAATCCAGATGTAAACAACCAGATGTTT
TTTTCTAACTTGTACAAACTGACGTGTGTCAACTATCATGGAAGGAAAAAAATGTACAGATTAA
AATTATTCAGTGTTATGTACTGTAAGTTAATATTTTTGTAGAATGGACATCAATCTACTTTGCA
AAATTTGGAGGCTATTTCAACATTGCACTGTAGAAATGTAAAGTAATGTATGCAATGTAAAGGA
AAGCCCGCGGTAGCTGAGCGCTTCATAACAGAATGTTCTAATCAAGTACGTGGTATTTGGGGAT
GTCTCCAATATTGCTCTTGTATTCTTTCTAATTGGGTTTAGTGACTAGTTGAAGGAAAATGTTA
TAACGCCATTTGGTTCACATGTGAAGTGCCCTCCATAGCCAAATGTTGGGATTTTTTTTTTTTT
CGTTTTTGGTTGGACTGTTTGCAGATATTTAAATTTTATGAAATTTCCAAAGATTTTGGTTGAT
AACCCCCTTTTACCTTCTAAATGATTTGAGATGTTCTTATGTTCTTACTGTGTGTTTTAAATAT
ATATAAAAGAGCCACAAGCATTTAGTCTTTTAGTATTATATTTGATCATATAACTACTACTGAA
AAGGGGTGGGGGGGAATGTGCCTGTGCACCCCTACAGTATCTTGTGTAGTGTCTATTAACATTG
TTCTCTTTTAGAGGACCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001243226 ⟹ NP_001230155

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,635,957 (-)	NCBI
HuRef	18	49,599,225 - 50,013,477 (-)	NCBI
CHM1_1	18	52,884,825 - 53,299,013 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,839,077 (-)	NCBI

Sequence:

show sequence

GATGTCTACAGTATCACCTTTCTTGTAGATTGGCACTTATGCGGCCAAAGGAACAACACCATGT
TTTCTAAAAGGCTGGAGAAAATACCACAGGTGCCTCTCCTCTTTCCCTTCATCTTCATCATTTT
GACAAATTACTCAAAGATGGAGGGTGCAGTTGAAAGCCAGCCATCATTTTTTAAAACTTCTCAG
GACATTGTAACATGCACTTGGGTTGAGAACTGCTACTCGAGCTTCTCCAGGAGGCCCTTGGAGC
AAATGTTTTGTAAACACCAATCTAAGAACATTATCTCTTGGACGGGCATGGTGGCTCACACCTG
TAATCCCAGCACTTTGGGAGGCCAAGGTTTGTGTGATTTTGCTAAAATGCATCACCAACAGCGA
ATGGCTGCCTTAGGGACGGACAAAGAGCTGAGTGATTTACTGGATTTCAGTGCGATGTTTTCAC
CTCCTGTGAGCAGTGGGAAAAATGGACCAACTTCTTTGGCAAGTGGACATTTTACTGGCTCAAA
TGTAGAAGACAGAAGTAGCTCAGGGTCCTGGGGGAATGGAGGACATCCAAGCCCGTCCAGGAAC
TATGGAGATGGGACTCCCTATGACCACATGACCAGCAGGGACCTTGGGTCACATGACAATCTCT
CTCCACCTTTTGTCAATTCCAGAATACAAAGTAAAACAGAAAGGGGCTCATACTCATCTTATGG
GAGAGAATCAAACTTACAGGGTTGCCACCAGCAGAGTCTCCTTGGAGGTGACATGGATATGGGC
AACCCAGGAACCCTTTCGCCCACCAAACCTGGTTCCCAGTACTATCAGTATTCTAGCAATAATC
CCCGAAGGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGACAAAGAAAGTTCGAAAAGTTCC
TCCAGGTTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCACTGCCGACTACAATAGGGACTCG
CCAGGCTATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCTAGCTCCTTCTTCATGCAAGATG
GCCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTGGCTATGCAGGAAT
GTTGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCATCCACATGAACGT
TTGAGCTATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCGATGTCCACTTTCC
ATCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCCAACGGGACAGACAG
TATAATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCAGACTGGAGATGCTCTGGGGAAA
GCACTTGCTTCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATCAAACCCTTCAACTC
CTGTTGGCTCTCCTCCATCTCTCTCAGCAGGCACAGCTGTTTGGTCTAGAAATGGAGGACAGGC
CTCATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCGAATTGAAGATCGTTTA
GAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGC
CTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCT
GGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTGGGGACCCAT
CGTGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTGCCAAACCAGGTTCCGGTTCCAC
AGCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCACCCCAGGACCCTTACAGAGGCAT
GCCACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTCTGAGATCAAATCCGATGACGAG
GGTGATGAGAACCTGCAAGACACGAAATCTTCGGAGGACAAGAAATTAGATGACGACAAGAAGG
ATATCAAATCAATTACTAGGTCAAGATCTAGCAATAATGACGATGAGGACCTGACACCAGAGCA
GAAGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCGTCTGCGGGTCCGT
GACATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCTCAAGAGTGACAAGC
CCCAGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAGTCTGGAGCAGCAAGT
CCGAGAAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGGAAGAGAAGGTGTCC
TCAGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGAATGGGAGACGCATCGAATCACA
TGGGACAGATGTAAAAGGGTCCAAGTTGCCACATTGCTTCATTAAAACAAGAGACCACTTCCTT
AACAGCTGTATTATCTTAAACCCACATAAACACTTCTCCTTAACCCCCATTTTTGTAATATAAG
ACAAGTCTGAGTAGTTATGAATCGCAGACGCAAGAGGTTTCAGCATTCCCAATTATCAAAAAAC
AGAAAAACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGACGACTTTCTTTAACATATCATT
CAGAATGTGCAAAGCAGTATGTACAGGCTGAGACACAGCCCAGAGACTGAACGGCAATCTTTCC
ACACTGTGGAACAATGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAAAATATAATTAATTTGT
AAGTCTGAAAAAAAAATATTTAATTTAAAAAAAATTGTAAACTTGCAATAATGAAAAAGTGTAC
TTCTGAAGAAAACTACATGAACGTTTTTGTTGGTATTCAAGTCAGCTAGTGTTTATAATTACTG
GATATTGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAAACGTCCTGATGACAAC
GAAGTGATGACATTAGCCATTCCTTAGGGTAGGAGGAACAGATGGATCTTATAGACCTATGACA
AATATATATATAAATATATATATAAATATATATTAAAAATTTAGTGACTATGGTAAGCTTTTGT
TCATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGTACTGATTAACTTTTTTAAAAGAAAG
ATTTTACTGTAAATATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCCCTTTCCCTGGTTTGTT
ATCGTAACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGATGAAATGCTGACCCTGA
TGTTGCTTCTCATTCATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTTGGGAACACAGGACTT
AAAAGTCACATCATGTGTAGATATTACAAGCAGCATTACCAAGACATGGCAAAAAGAGTTTGTC
TGAATTGTAATGTTGCGTTTGTGAACCTATTCTGGGATTTTCAGAGGTACAAGGTTAGAATGCT
ACAATGTTACCACTGTGCCTTCCAATGTTTATATCATCGGAAACATAACATAATCAAAGTGGCT
GTGATTTAACAAAATGATTAAAGTGTTACCTACCTGTGTAGCCGAAGTAGTGTGCAGTGAGGCG
TTTCTGAATACATGGTCAGATTTTTGGAAAAAAACAAAAACAAAAAAAACAAGTAAAGTTCAAA
AACCGTCAAATGAGAAAATTGCAAGTAGTGTGACAGAGCTGATTGATTTTGTTGCTTTCTTGAT
TTTTTTTTTCAAAATGGGTTTACTAAAATGTAGATGACTTAACTGCCTCCTCCTTCGTCTGAAA
AATGCCAATATTCAATCATCATGCAGCATTATAACAAGCCTTATAAGTCCTAAAGCATTAAGTT
GCACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAATGAAGTTTATACTTAC
CATATTTGATAGAAACATAGATCAAGCTATGGCACAGCGACTCATCAGATAGCTAGCTTTGACG
TCTGGGCACAATTGAACCAACTTCCATCGTGAATCTTTATAATGATTGACTTTGGTGTATAGTG
CAGTAAACAAATAGTGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTGTCTCTAACTTGTTTCT
ATTTTTACAGCCACACAATTCTTGGCATGTATTAAGAAAAAAAAAAATCCCTGTTCAAGTAGTT
TTTCCACCTATCAGCACTGAGTAAATGCCATAAATCCATTGAAATGGTCTAAATGTTCCATCTG
TTCTCCTGTTTTGCCAGTTATATAGTAATGAAATACATTTGTAAATTTTATGCAACAAATGGCA
AACGTATCATTATTTTGAAATTGTGTATGTAAAAGTTATATTTTTACATGTAGACTCTTGTTAT
TATGTGTTTTAATACATTGTATCAGTTTTTGTTTTTTTTTAAAAACTGTGGTTTAAAAAGAAGT
CTCATTTAAATGAAATAGCTACAAGAATCAGAATTTTATGTTCATTTCTGAAAATGTAAGAACA
AATAAGATAGTTACCACGTGGTCATCTTTTACAAACCCATAAACATTTTGATTAGCTGTGTGTG
TGTTGAAAAACTGTAAATATGTTCAGTAGCGATAAAACTAAAATAACTTTGATTTGTTGATAAG
TTCCTAAAATGTGGAGGTGGATTAAAACCTTAGGAGAATAGCAGAAATCAAACTTCATGAAAAG
TTATTTTGGGGCTTTCCTGTGAAATGTATGAACAAAGAGGCTCAGAGAAGGACATGGAAGACAA
TAATGTATACTCTCTCCTCCTCCCTGAATAATGAAAACCATGTGTATTTGTTCCCTCCGTATGT
TAAAGATTTCCTTTTAGTGGTACATTCTGCACTCATTTTGTATAGTCTACCAAGGCGGGTATCC
CTAGGAACAATATTATATAGGAAGCAGGTATACTCTGATCACATTCAGGATAAGTGTACAGAAG
AAAATACGGTGTTTACTCTTTAGGGAACTGGAAACACTCCCTGCATTGATGTACATTTTAAGAA
TGGCACTTTTGATACATGTTATCATAAAGGTGCTTAATAGAGCTGAATTAAAGTTTTTCAAATC
TGTAAACAAAGCAAAAAAGTAAATTGTAGTCATTTGATTATTTTTTAAATTGGTGCTTTATATT
TTGTTCTCACTCAGAGTAAAAGCTGCAATTTATTGTTCACCAGCTTTGATGTATTCATTACTCA
GTAATGCAATACCTCTATTGTTGAATTCCCTTTGGAAATAAGTGAAAATTCTAACGGCCACTGA
AAGCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACATAATCTGCACCTATCCATATTAATTGGGT
TGTATCCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTGTTTTTTATTGTTGTT
GTTTTGTAATTATCAAACCCAGGTAAGATATTGGTATCCTGCACTGGATTTTCAAATGAAGTTC
AGCAGAAGACAGTTAAGATTAAAGTACTATACAAAAATTTCAAAAGGGTCCATACTACGCTATC
TGTATGACGACACTTAGGCTGGGGATCTCTTTCAGAAACTCGGACTTTAAAAGCAACTTGGAGC
AGTTGATCCACCTCCACATTCAAGTAATTTATGAATATGCAGAATAGGGATCTGTTCATCTAGA
AATTTTTACCATTTGTCTTCTGTGTAGCTGCAAGGAACACTAATGTTTATACAACTGTCAGTCC
ACCCAGTGGTGCAACTGGTTCTGATTCAGTCTTCCGATTCCTTTTTATTTTTCACTTTTTCCTA
TTTCTGAATTTTTTTTTTTATTTGTGATCTTGATTTTGATGAGGGGTTGGGGAGTGGGGAGGGA
GTCGAACCAAGACTTGGAGTTAAGAGGATTTTCATCTTTTGCATCCAACAGGCAGAATATGATC
TGTGTCCAAAAGTGAACTTGAGTCAGGAATGAATCAATTTCAGCATAAACAAGCACAAAAATTT
AGTCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGAATATGATGAATTCCAACACAATGGG
GCACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTGTTTTTCTTTAGAGAC
ATGCTCTTTCTCATGGGACTTGAAGTGGACTCATCTTTGTGCAGTGCTGGTTTTGCCATACTCA
TTTCAAGTATTATAGACATATGTAATGGTGAAAATATATGAACTGTGGCCTTTTTCATTCTTGT
TACTTGTGATGCAATTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGAGATTTACCATGTATC
AGTGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCTATAAAATAGACTGT
AGTACACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAAAATAAAAAATATATTTGGCTTATTT
TTCGCAGGAGCAATCCTTTTATACCATGAATATTACAAAAAAATTGTCAGATTCTGAATATTTC
TTCTTTGTAGATTTTTGGAATCATTATGAGTAAAAGTTTGTTACTTTATTTTACTATTTAAAAG
ATGTTATTTTACCATGTGTTACCAAGATGAAACTGTATGGGTAGCTTTTTTGTTTGTTTTTTGT
TTTGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAATTTTTTGCGACTGT
ACACATAGCTGCAGCATTAAAAACTTAAAAAAATTGTTAAAAAAAAAAAAAGGGAAAACATTTC
AAAAAAAAAAAAAAAGATAAACAGTTACACCTTGTTTTCAATGTGTGGCTGAGTGCCTCGATTT
TTTCATGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTCCAAACAGGTTGTGTGCTGGAGTTCC
TTCAAGACAAAAACAAACCCAGCTTGGTCAAGGCCATTACCTGTTTCCCATCTGTAGTTATTCG
ATGAAGTCATGTACATGACCGTTCTGTAGCAATAAATGTGCCATTTTTATAAACTGTTTCTGAC
ACTTGTTTCATTTCATTTTGCATTGTCCATATAGCTATGATTCTCTTCTGTAAGTAAAACGCAT
CTATATTTCATTTTCCAAGTGTTGGAGGTATTGACAGCTTAACAAACAAAACATACAAAAAAAA
TCACAAAAACAAATTGAAAAGCAAAGCACATGATTGATCAAGGAAGAGATGCCCTTAATGAAAA
TGGAACGGGATGCATGCAAAACAAAAAGAAAACTGTCTAGAGGATTAACTAATTGAAGGAATAT
AATTAATGTGTGTGTAACACTGAAGCTATGCATTTGAAGAGCTCTGAACTGCACCAGTGTTTTC
GGTTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACCAGTTGGTCGGCTGTTT
GGCAGAACATTCTCAGATCTTTTCAGTCAAAAATCTAAGATGATTTATTTTGTATCACTTTGTT
AAAAGCTGAATATTGTTAACTACAGTTAATATTAACACTGTATTTATACTTTCTCAAACTACAT
CCGCCCCACCACTTCTGGTTGCCTCTGTTGACTATTAATCCAGATGTAAACAACCAGATGTTTT
TTTCTAACTTGTACAAACTGACGTGTGTCAACTATCATGGAAGGAAAAAAATGTACAGATTAAA
ATTATTCAGTGTTATGTACTGTAAGTTAATATTTTTGTAGAATGGACATCAATCTACTTTGCAA
AATTTGGAGGCTATTTCAACATTGCACTGTAGAAATGTAAAGTAATGTATGCAATGTAAAGGAA
AGCCCGCGGTAGCTGAGCGCTTCATAACAGAATGTTCTAATCAAGTACGTGGTATTTGGGGATG
TCTCCAATATTGCTCTTGTATTCTTTCTAATTGGGTTTAGTGACTAGTTGAAGGAAAATGTTAT
AACGCCATTTGGTTCACATGTGAAGTGCCCTCCATAGCCAAATGTTGGGATTTTTTTTTTTTTC
GTTTTTGGTTGGACTGTTTGCAGATATTTAAATTTTATGAAATTTCCAAAGATTTTGGTTGATA
ACCCCCTTTTACCTTCTAAATGATTTGAGATGTTCTTATGTTCTTACTGTGTGTTTTAAATATA
TATAAAAGAGCCACAAGCATTTAGTCTTTTAGTATTATATTTGATCATATAACTACTACTGAAA
AGGGGTGGGGGGGAATGTGCCTGTGCACCCCTACAGTATCTTGTGTAGTGTCTATTAACATTGT
TCTCTTTTAGAGGACCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001243227 ⟹ NP_001230156

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,589,811 (-)	NCBI
HuRef	18	49,599,225 - 50,013,477 (-)	NCBI
CHM1_1	18	52,884,825 - 53,252,275 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,792,862 (-)	NCBI

Sequence:

show sequence

CTCTTTATAAGCCCGCAGTTCCCGGATGTGAATGGATTACAATGTATCTTTCAGGGAAACCTAT
TATTATCAATGTGACTCCACGGGGGAGTCCATGGTGATGATGATGAGGAGGAGGATGATGATGA
TGAGACACCTCTAAACTTGGAACAAGTTTAAGACTTTATGAGAGAAGAAAAAAAATCACCAACA
AGAATTGTTTGAGGAAAAATTATAACTATCCTGTGTTCATTTTTTTTTTTATAAACAATAAGAA
AAAGTTGTTGGATTTTTTTTTAATGATTTCTTTTTTGGGGGAGGGAATTTTGTTGCAGTTTTAT
GGTGGAAAATGCAAAAACCAGAGCCAGGTGCATAATCTTGTAATCTGTGGATATCCCTGGAGCA
GGACTGAGTACCAGTTAAAATACTTTTTGGGGATACACATGTGAGATACTAAGTACTTGCAGAA
GATTTTTGTCTCTCTTTTTAAAGTCTCTTTCCTTGGAATATTGTGAGAATATTTGTGGCCATTT
AAGATGTTTTCACCTCCTGTGAGCAGTGGGAAAAATGGACCAACTTCTTTGGCAAGTGGACATT
TTACTGGCTCAAATGTAGAAGACAGAAGTAGCTCAGGGTCCTGGGGGAATGGAGGACATCCAAG
CCCGTCCAGGAACTATGGAGATGGGACTCCCTATGACCACATGACCAGCAGGGACCTTGGGTCA
CATGACAATCTCTCTCCACCTTTTGTCAATTCCAGAATACAAAGTAAAACAGAAAGGGGCTCAT
ACTCATCTTATGGGAGAGAATCAAACTTACAGGGTTGCCACCAGCAGAGTCTCCTTGGAGGTGA
CATGGATATGGGCAACCCAGGAACCCTTTCGCCCACCAAACCTGGTTCCCAGTACTATCAGTAT
TCTAGCAATAATCCCCGAAGGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGACAAAGAAAG
TTCGAAAAGTTCCTCCAGGTTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCACTGCCGACTA
CAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCTAGCTCCTTC
TTCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTG
GCTATGCAGGAATGTTGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCA
TCCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCG
ATGTCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCCA
ACGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCAGACTGGAGA
TGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATCA
AACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAGCAGGCACAGCTGTTTGGTCTAGAA
ATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCGAAT
TGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCA
TCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAG
CCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCAT
GGTGGGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTGCCAAACCAG
GTTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCACCCCAGGACC
CTTACAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTCTGAGATCAA
ATCCGATGACGAGGGTGATGAGAACCTGCAAGACACGAAATCTTCGGAGGACAAGAAATTAGAT
GACGACAAGAAGGATATCAAATCAATTACTAGGTCAAGATCTAGCAATAATGACGATGAGGACC
TGACACCAGAGCAGAAGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCG
TCTGCGGGTCCGTGACATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCTC
AAGAGTGACAAGCCCCAGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAGTC
TGGAGCAGCAAGTCCGAGAAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGGA
AGAGAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGAATGGGAGAC
GCATCGAATCACATGGGACAGATGTAAAAGGGTCCAAGTTGCCACATTGCTTCATTAAAACAAG
AGACCACTTCCTTAACAGCTGTATTATCTTAAACCCACATAAACACTTCTCCTTAACCCCCATT
TTTGTAATATAAGACAAGTCTGAGTAGTTATGAATCGCAGACGCAAGAGGTTTCAGCATTCCCA
ATTATCAAAAAACAGAAAAACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGACGACTTTCT
TTAACATATCATTCAGAATGTGCAAAGCAGTATGTACAGGCTGAGACACAGCCCAGAGACTGAA
CGGCAATCTTTCCACACTGTGGAACAATGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAAAAT
ATAATTAATTTGTAAGTCTGAAAAAAAAATATTTAATTTAAAAAAAATTGTAAACTTGCAATAA
TGAAAAAGTGTACTTCTGAAGAAAACTACATGAACGTTTTTGTTGGTATTCAAGTCAGCTAGTG
TTTATAATTACTGGATATTGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAAACG
TCCTGATGACAACGAAGTGATGACATTAGCCATTCCTTAGGGTAGGAGGAACAGATGGATCTTA
TAGACCTATGACAAATATATATATAAATATATATATAAATATATATTAAAAATTTAGTGACTAT
GGTAAGCTTTTGTTCATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGTACTGATTAACTT
TTTTAAAAGAAAGATTTTACTGTAAATATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCCCTT
TCCCTGGTTTGTTATCGTAACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGATGAA
ATGCTGACCCTGATGTTGCTTCTCATTCATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTTGG
GAACACAGGACTTAAAAGTCACATCATGTGTAGATATTACAAGCAGCATTACCAAGACATGGCA
AAAAGAGTTTGTCTGAATTGTAATGTTGCGTTTGTGAACCTATTCTGGGATTTTCAGAGGTACA
AGGTTAGAATGCTACAATGTTACCACTGTGCCTTCCAATGTTTATATCATCGGAAACATAACAT
AATCAAAGTGGCTGTGATTTAACAAAATGATTAAAGTGTTACCTACCTGTGTAGCCGAAGTAGT
GTGCAGTGAGGCGTTTCTGAATACATGGTCAGATTTTTGGAAAAAAACAAAAACAAAAAAAACA
AGTAAAGTTCAAAAACCGTCAAATGAGAAAATTGCAAGTAGTGTGACAGAGCTGATTGATTTTG
TTGCTTTCTTGATTTTTTTTTTCAAAATGGGTTTACTAAAATGTAGATGACTTAACTGCCTCCT
CCTTCGTCTGAAAAATGCCAATATTCAATCATCATGCAGCATTATAACAAGCCTTATAAGTCCT
AAAGCATTAAGTTGCACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAATGA
AGTTTATACTTACCATATTTGATAGAAACATAGATCAAGCTATGGCACAGCGACTCATCAGATA
GCTAGCTTTGACGTCTGGGCACAATTGAACCAACTTCCATCGTGAATCTTTATAATGATTGACT
TTGGTGTATAGTGCAGTAAACAAATAGTGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTGTCT
CTAACTTGTTTCTATTTTTACAGCCACACAATTCTTGGCATGTATTAAGAAAAAAAAAAATCCC
TGTTCAAGTAGTTTTTCCACCTATCAGCACTGAGTAAATGCCATAAATCCATTGAAATGGTCTA
AATGTTCCATCTGTTCTCCTGTTTTGCCAGTTATATAGTAATGAAATACATTTGTAAATTTTAT
GCAACAAATGGCAAACGTATCATTATTTTGAAATTGTGTATGTAAAAGTTATATTTTTACATGT
AGACTCTTGTTATTATGTGTTTTAATACATTGTATCAGTTTTTGTTTTTTTTTAAAAACTGTGG
TTTAAAAAGAAGTCTCATTTAAATGAAATAGCTACAAGAATCAGAATTTTATGTTCATTTCTGA
AAATGTAAGAACAAATAAGATAGTTACCACGTGGTCATCTTTTACAAACCCATAAACATTTTGA
TTAGCTGTGTGTGTGTTGAAAAACTGTAAATATGTTCAGTAGCGATAAAACTAAAATAACTTTG
ATTTGTTGATAAGTTCCTAAAATGTGGAGGTGGATTAAAACCTTAGGAGAATAGCAGAAATCAA
ACTTCATGAAAAGTTATTTTGGGGCTTTCCTGTGAAATGTATGAACAAAGAGGCTCAGAGAAGG
ACATGGAAGACAATAATGTATACTCTCTCCTCCTCCCTGAATAATGAAAACCATGTGTATTTGT
TCCCTCCGTATGTTAAAGATTTCCTTTTAGTGGTACATTCTGCACTCATTTTGTATAGTCTACC
AAGGCGGGTATCCCTAGGAACAATATTATATAGGAAGCAGGTATACTCTGATCACATTCAGGAT
AAGTGTACAGAAGAAAATACGGTGTTTACTCTTTAGGGAACTGGAAACACTCCCTGCATTGATG
TACATTTTAAGAATGGCACTTTTGATACATGTTATCATAAAGGTGCTTAATAGAGCTGAATTAA
AGTTTTTCAAATCTGTAAACAAAGCAAAAAAGTAAATTGTAGTCATTTGATTATTTTTTAAATT
GGTGCTTTATATTTTGTTCTCACTCAGAGTAAAAGCTGCAATTTATTGTTCACCAGCTTTGATG
TATTCATTACTCAGTAATGCAATACCTCTATTGTTGAATTCCCTTTGGAAATAAGTGAAAATTC
TAACGGCCACTGAAAGCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACATAATCTGCACCTATCC
ATATTAATTGGGTTGTATCCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTGTT
TTTTATTGTTGTTGTTTTGTAATTATCAAACCCAGGTAAGATATTGGTATCCTGCACTGGATTT
TCAAATGAAGTTCAGCAGAAGACAGTTAAGATTAAAGTACTATACAAAAATTTCAAAAGGGTCC
ATACTACGCTATCTGTATGACGACACTTAGGCTGGGGATCTCTTTCAGAAACTCGGACTTTAAA
AGCAACTTGGAGCAGTTGATCCACCTCCACATTCAAGTAATTTATGAATATGCAGAATAGGGAT
CTGTTCATCTAGAAATTTTTACCATTTGTCTTCTGTGTAGCTGCAAGGAACACTAATGTTTATA
CAACTGTCAGTCCACCCAGTGGTGCAACTGGTTCTGATTCAGTCTTCCGATTCCTTTTTATTTT
TCACTTTTTCCTATTTCTGAATTTTTTTTTTTATTTGTGATCTTGATTTTGATGAGGGGTTGGG
GAGTGGGGAGGGAGTCGAACCAAGACTTGGAGTTAAGAGGATTTTCATCTTTTGCATCCAACAG
GCAGAATATGATCTGTGTCCAAAAGTGAACTTGAGTCAGGAATGAATCAATTTCAGCATAAACA
AGCACAAAAATTTAGTCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGAATATGATGAATT
CCAACACAATGGGGCACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTGTT
TTTCTTTAGAGACATGCTCTTTCTCATGGGACTTGAAGTGGACTCATCTTTGTGCAGTGCTGGT
TTTGCCATACTCATTTCAAGTATTATAGACATATGTAATGGTGAAAATATATGAACTGTGGCCT
TTTTCATTCTTGTTACTTGTGATGCAATTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGAGA
TTTACCATGTATCAGTGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCTA
TAAAATAGACTGTAGTACACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAAAATAAAAAATAT
ATTTGGCTTATTTTTCGCAGGAGCAATCCTTTTATACCATGAATATTACAAAAAAATTGTCAGA
TTCTGAATATTTCTTCTTTGTAGATTTTTGGAATCATTATGAGTAAAAGTTTGTTACTTTATTT
TACTATTTAAAAGATGTTATTTTACCATGTGTTACCAAGATGAAACTGTATGGGTAGCTTTTTT
GTTTGTTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAAT
TTTTTGCGACTGTACACATAGCTGCAGCATTAAAAACTTAAAAAAATTGTTAAAAAAAAAAAAA
GGGAAAACATTTCAAAAAAAAAAAAAAAGATAAACAGTTACACCTTGTTTTCAATGTGTGGCTG
AGTGCCTCGATTTTTTCATGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTCCAAACAGGTTGT
GTGCTGGAGTTCCTTCAAGACAAAAACAAACCCAGCTTGGTCAAGGCCATTACCTGTTTCCCAT
CTGTAGTTATTCGATGAAGTCATGTACATGACCGTTCTGTAGCAATAAATGTGCCATTTTTATA
AACTGTTTCTGACACTTGTTTCATTTCATTTTGCATTGTCCATATAGCTATGATTCTCTTCTGT
AAGTAAAACGCATCTATATTTCATTTTCCAAGTGTTGGAGGTATTGACAGCTTAACAAACAAAA
CATACAAAAAAAATCACAAAAACAAATTGAAAAGCAAAGCACATGATTGATCAAGGAAGAGATG
CCCTTAATGAAAATGGAACGGGATGCATGCAAAACAAAAAGAAAACTGTCTAGAGGATTAACTA
ATTGAAGGAATATAATTAATGTGTGTGTAACACTGAAGCTATGCATTTGAAGAGCTCTGAACTG
CACCAGTGTTTTCGGTTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACCAGT
TGGTCGGCTGTTTGGCAGAACATTCTCAGATCTTTTCAGTCAAAAATCTAAGATGATTTATTTT
GTATCACTTTGTTAAAAGCTGAATATTGTTAACTACAGTTAATATTAACACTGTATTTATACTT
TCTCAAACTACATCCGCCCCACCACTTCTGGTTGCCTCTGTTGACTATTAATCCAGATGTAAAC
AACCAGATGTTTTTTTCTAACTTGTACAAACTGACGTGTGTCAACTATCATGGAAGGAAAAAAA
TGTACAGATTAAAATTATTCAGTGTTATGTACTGTAAGTTAATATTTTTGTAGAATGGACATCA
ATCTACTTTGCAAAATTTGGAGGCTATTTCAACATTGCACTGTAGAAATGTAAAGTAATGTATG
CAATGTAAAGGAAAGCCCGCGGTAGCTGAGCGCTTCATAACAGAATGTTCTAATCAAGTACGTG
GTATTTGGGGATGTCTCCAATATTGCTCTTGTATTCTTTCTAATTGGGTTTAGTGACTAGTTGA
AGGAAAATGTTATAACGCCATTTGGTTCACATGTGAAGTGCCCTCCATAGCCAAATGTTGGGAT
TTTTTTTTTTTTCGTTTTTGGTTGGACTGTTTGCAGATATTTAAATTTTATGAAATTTCCAAAG
ATTTTGGTTGATAACCCCCTTTTACCTTCTAAATGATTTGAGATGTTCTTATGTTCTTACTGTG
TGTTTTAAATATATATAAAAGAGCCACAAGCATTTAGTCTTTTAGTATTATATTTGATCATATA
ACTACTACTGAAAAGGGGTGGGGGGGAATGTGCCTGTGCACCCCTACAGTATCTTGTGTAGTGT
CTATTAACATTGTTCTCTTTTAGAGGACCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001243228 ⟹ NP_001230157

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,589,811 (-)	NCBI
GRCh37	18	52,889,562 - 53,303,252 (-)	NCBI
HuRef	18	49,599,225 - 50,013,477 (-)	NCBI
CHM1_1	18	52,884,825 - 53,252,275 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,792,862 (-)	NCBI

Sequence:

show sequence

CTCTTTATAAGCCCGCAGTTCCCGGATGTGAATGGATTACAATGTATCTTTCAGGGAAACCTAT
TATTATCAATGTGACTCCACGGGGGAGTCCATGGTGATGATGATGAGGAGGAGGATGATGATGA
TGAGACACCTCTAAACTTGGAACAAGTTTAAGACTTTATGAGAGAAGAAAAAAAATCACCAACA
AGAATTGTTTGAGGAAAAATTATAACTATCCTGTGTTCATTTTTTTTTTTATAAACAATAAGAA
AAAGTTGTTGGATTTTTTTTTAATGATTTCTTTTTTGGGGGAGGGAATTTTGTTGCAGTTTTAT
GGTGGAAAATGCAAAAACCAGAGCCAGGTGCATAATCTTGTAATCTGTGGATATCCCTGGAGCA
GGACTGAGTACCAGTTAAAATACTTTTTGGGGATACACATGTGAGATACTAAGTACTTGCAGAA
GATTTTTGTCTCTCTTTTTAAAGTCTCTTTCCTTGGAATATTGTGAGAATATTTGTGGCCATTT
AAGGTTTGTGTGATTTTGCTAAAATGCATCACCAACAGCGAATGGCTGCCTTAGGGACGGACAA
AGAGCTGAGTGATTTACTGGATTTCAGTGCGATGTTTTCACCTCCTGTGAGCAGTGGGAAAAAT
GGACCAACTTCTTTGGCAAGTGGACATTTTACTGGCTCAAATGTAGAAGACAGAAGTAGCTCAG
GGTCCTGGGGGAATGGAGGACATCCAAGCCCGTCCAGGAACTATGGAGATGGGACTCCCTATGA
CCACATGACCAGCAGGGACCTTGGGTCACATGACAATCTCTCTCCACCTTTTGTCAATTCCAGA
ATACAAAGTAAAACAGAAAGGGGCTCATACTCATCTTATGGGAGAGAATCAAACTTACAGGGTT
GCCACCAGCAGAGTCTCCTTGGAGGTGACATGGATATGGGCAACCCAGGAACCCTTTCGCCCAC
CAAACCTGGTTCCCAGTACTATCAGTATTCTAGCAATAATCCCCGAAGGAGGCCTCTTCACAGT
AGTGCCATGGAGGTACAGACAAAGAAAGTTCGAAAAGTTCCTCCAGGTTTGCCATCTTCATTGG
TTCTTTCTCCTCAGGTCTATGCTCCATCAGCAAGCACTGCCGACTACAATAGGGACTCGCCAGG
CTATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCTAGCTCCTTCTTCATGCAAGATGGCCAT
CACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTGGCTATGCAGGAATGTTGG
GCAACTCTTCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCATCCACATGAACGTTTGAG
CTATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCGATGTCCACTTTCCATCGT
AGTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCCAACGGGACAGACAGTATAA
TGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCAGACTGGAGATGCTCTGGGGAAAGCACT
TGCTTCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATCAAACCCTTCAACTCCTGTT
GGCTCTCCTCCATCTCTCTCAGCAGGCACAGCTGTTTGGTCTAGAAATGGAGGACAGGCCTCAT
CGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCGAATTGAAGATCGTTTAGAAAG
ACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGT
GGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCT
CAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTGGGGACCCATCGTGA
AGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTGCCAAACCAGGTTCCGGTTCCACAGCTT
CCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCACCCCAGGACCCTTACAGAGGCATGCCAC
CAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTCTGAGATCAAATCCGATGACGAGGGTGA
TGAGAACCTGCAAGACACGAAATCTTCGGAGGACAAGAAATTAGATGACGACAAGAAGGATATC
AAATCAATTACTAGGTCAAGATCTAGCAATAATGACGATGAGGACCTGACACCAGAGCAGAAGG
CAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCGTCTGCGGGTCCGTGACAT
CAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCTCAAGAGTGACAAGCCCCAG
ACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAGTCTGGAGCAGCAAGTCCGAG
AAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGGAAGAGAAGGTGTCCTCAGA
GCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGAATGGGAGACGCATCGAATCACATGGGA
CAGATGTAAAAGGGTCCAAGTTGCCACATTGCTTCATTAAAACAAGAGACCACTTCCTTAACAG
CTGTATTATCTTAAACCCACATAAACACTTCTCCTTAACCCCCATTTTTGTAATATAAGACAAG
TCTGAGTAGTTATGAATCGCAGACGCAAGAGGTTTCAGCATTCCCAATTATCAAAAAACAGAAA
AACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGACGACTTTCTTTAACATATCATTCAGAA
TGTGCAAAGCAGTATGTACAGGCTGAGACACAGCCCAGAGACTGAACGGCAATCTTTCCACACT
GTGGAACAATGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAAAATATAATTAATTTGTAAGTC
TGAAAAAAAAATATTTAATTTAAAAAAAATTGTAAACTTGCAATAATGAAAAAGTGTACTTCTG
AAGAAAACTACATGAACGTTTTTGTTGGTATTCAAGTCAGCTAGTGTTTATAATTACTGGATAT
TGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAAACGTCCTGATGACAACGAAGT
GATGACATTAGCCATTCCTTAGGGTAGGAGGAACAGATGGATCTTATAGACCTATGACAAATAT
ATATATAAATATATATATAAATATATATTAAAAATTTAGTGACTATGGTAAGCTTTTGTTCATT
TGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGTACTGATTAACTTTTTTAAAAGAAAGATTTT
ACTGTAAATATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCCCTTTCCCTGGTTTGTTATCGT
AACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGATGAAATGCTGACCCTGATGTTG
CTTCTCATTCATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTTGGGAACACAGGACTTAAAAG
TCACATCATGTGTAGATATTACAAGCAGCATTACCAAGACATGGCAAAAAGAGTTTGTCTGAAT
TGTAATGTTGCGTTTGTGAACCTATTCTGGGATTTTCAGAGGTACAAGGTTAGAATGCTACAAT
GTTACCACTGTGCCTTCCAATGTTTATATCATCGGAAACATAACATAATCAAAGTGGCTGTGAT
TTAACAAAATGATTAAAGTGTTACCTACCTGTGTAGCCGAAGTAGTGTGCAGTGAGGCGTTTCT
GAATACATGGTCAGATTTTTGGAAAAAAACAAAAACAAAAAAAACAAGTAAAGTTCAAAAACCG
TCAAATGAGAAAATTGCAAGTAGTGTGACAGAGCTGATTGATTTTGTTGCTTTCTTGATTTTTT
TTTTCAAAATGGGTTTACTAAAATGTAGATGACTTAACTGCCTCCTCCTTCGTCTGAAAAATGC
CAATATTCAATCATCATGCAGCATTATAACAAGCCTTATAAGTCCTAAAGCATTAAGTTGCACT
TTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAATGAAGTTTATACTTACCATAT
TTGATAGAAACATAGATCAAGCTATGGCACAGCGACTCATCAGATAGCTAGCTTTGACGTCTGG
GCACAATTGAACCAACTTCCATCGTGAATCTTTATAATGATTGACTTTGGTGTATAGTGCAGTA
AACAAATAGTGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTGTCTCTAACTTGTTTCTATTTT
TACAGCCACACAATTCTTGGCATGTATTAAGAAAAAAAAAAATCCCTGTTCAAGTAGTTTTTCC
ACCTATCAGCACTGAGTAAATGCCATAAATCCATTGAAATGGTCTAAATGTTCCATCTGTTCTC
CTGTTTTGCCAGTTATATAGTAATGAAATACATTTGTAAATTTTATGCAACAAATGGCAAACGT
ATCATTATTTTGAAATTGTGTATGTAAAAGTTATATTTTTACATGTAGACTCTTGTTATTATGT
GTTTTAATACATTGTATCAGTTTTTGTTTTTTTTTAAAAACTGTGGTTTAAAAAGAAGTCTCAT
TTAAATGAAATAGCTACAAGAATCAGAATTTTATGTTCATTTCTGAAAATGTAAGAACAAATAA
GATAGTTACCACGTGGTCATCTTTTACAAACCCATAAACATTTTGATTAGCTGTGTGTGTGTTG
AAAAACTGTAAATATGTTCAGTAGCGATAAAACTAAAATAACTTTGATTTGTTGATAAGTTCCT
AAAATGTGGAGGTGGATTAAAACCTTAGGAGAATAGCAGAAATCAAACTTCATGAAAAGTTATT
TTGGGGCTTTCCTGTGAAATGTATGAACAAAGAGGCTCAGAGAAGGACATGGAAGACAATAATG
TATACTCTCTCCTCCTCCCTGAATAATGAAAACCATGTGTATTTGTTCCCTCCGTATGTTAAAG
ATTTCCTTTTAGTGGTACATTCTGCACTCATTTTGTATAGTCTACCAAGGCGGGTATCCCTAGG
AACAATATTATATAGGAAGCAGGTATACTCTGATCACATTCAGGATAAGTGTACAGAAGAAAAT
ACGGTGTTTACTCTTTAGGGAACTGGAAACACTCCCTGCATTGATGTACATTTTAAGAATGGCA
CTTTTGATACATGTTATCATAAAGGTGCTTAATAGAGCTGAATTAAAGTTTTTCAAATCTGTAA
ACAAAGCAAAAAAGTAAATTGTAGTCATTTGATTATTTTTTAAATTGGTGCTTTATATTTTGTT
CTCACTCAGAGTAAAAGCTGCAATTTATTGTTCACCAGCTTTGATGTATTCATTACTCAGTAAT
GCAATACCTCTATTGTTGAATTCCCTTTGGAAATAAGTGAAAATTCTAACGGCCACTGAAAGCT
GCTCGCTAGGTTTTGCTTGGTGGAGAAACATAATCTGCACCTATCCATATTAATTGGGTTGTAT
CCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTGTTTTTTATTGTTGTTGTTTT
GTAATTATCAAACCCAGGTAAGATATTGGTATCCTGCACTGGATTTTCAAATGAAGTTCAGCAG
AAGACAGTTAAGATTAAAGTACTATACAAAAATTTCAAAAGGGTCCATACTACGCTATCTGTAT
GACGACACTTAGGCTGGGGATCTCTTTCAGAAACTCGGACTTTAAAAGCAACTTGGAGCAGTTG
ATCCACCTCCACATTCAAGTAATTTATGAATATGCAGAATAGGGATCTGTTCATCTAGAAATTT
TTACCATTTGTCTTCTGTGTAGCTGCAAGGAACACTAATGTTTATACAACTGTCAGTCCACCCA
GTGGTGCAACTGGTTCTGATTCAGTCTTCCGATTCCTTTTTATTTTTCACTTTTTCCTATTTCT
GAATTTTTTTTTTTATTTGTGATCTTGATTTTGATGAGGGGTTGGGGAGTGGGGAGGGAGTCGA
ACCAAGACTTGGAGTTAAGAGGATTTTCATCTTTTGCATCCAACAGGCAGAATATGATCTGTGT
CCAAAAGTGAACTTGAGTCAGGAATGAATCAATTTCAGCATAAACAAGCACAAAAATTTAGTCT
GCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGAATATGATGAATTCCAACACAATGGGGCACC
AAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTGTTTTTCTTTAGAGACATGCT
CTTTCTCATGGGACTTGAAGTGGACTCATCTTTGTGCAGTGCTGGTTTTGCCATACTCATTTCA
AGTATTATAGACATATGTAATGGTGAAAATATATGAACTGTGGCCTTTTTCATTCTTGTTACTT
GTGATGCAATTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGAGATTTACCATGTATCAGTGC
CTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCTATAAAATAGACTGTAGTAC
ACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAAAATAAAAAATATATTTGGCTTATTTTTCGC
AGGAGCAATCCTTTTATACCATGAATATTACAAAAAAATTGTCAGATTCTGAATATTTCTTCTT
TGTAGATTTTTGGAATCATTATGAGTAAAAGTTTGTTACTTTATTTTACTATTTAAAAGATGTT
ATTTTACCATGTGTTACCAAGATGAAACTGTATGGGTAGCTTTTTTGTTTGTTTTTTGTTTTGT
TTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAATTTTTTGCGACTGTACACA
TAGCTGCAGCATTAAAAACTTAAAAAAATTGTTAAAAAAAAAAAAAGGGAAAACATTTCAAAAA
AAAAAAAAAAGATAAACAGTTACACCTTGTTTTCAATGTGTGGCTGAGTGCCTCGATTTTTTCA
TGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTCCAAACAGGTTGTGTGCTGGAGTTCCTTCAA
GACAAAAACAAACCCAGCTTGGTCAAGGCCATTACCTGTTTCCCATCTGTAGTTATTCGATGAA
GTCATGTACATGACCGTTCTGTAGCAATAAATGTGCCATTTTTATAAACTGTTTCTGACACTTG
TTTCATTTCATTTTGCATTGTCCATATAGCTATGATTCTCTTCTGTAAGTAAAACGCATCTATA
TTTCATTTTCCAAGTGTTGGAGGTATTGACAGCTTAACAAACAAAACATACAAAAAAAATCACA
AAAACAAATTGAAAAGCAAAGCACATGATTGATCAAGGAAGAGATGCCCTTAATGAAAATGGAA
CGGGATGCATGCAAAACAAAAAGAAAACTGTCTAGAGGATTAACTAATTGAAGGAATATAATTA
ATGTGTGTGTAACACTGAAGCTATGCATTTGAAGAGCTCTGAACTGCACCAGTGTTTTCGGTTG
TGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACCAGTTGGTCGGCTGTTTGGCAG
AACATTCTCAGATCTTTTCAGTCAAAAATCTAAGATGATTTATTTTGTATCACTTTGTTAAAAG
CTGAATATTGTTAACTACAGTTAATATTAACACTGTATTTATACTTTCTCAAACTACATCCGCC
CCACCACTTCTGGTTGCCTCTGTTGACTATTAATCCAGATGTAAACAACCAGATGTTTTTTTCT
AACTTGTACAAACTGACGTGTGTCAACTATCATGGAAGGAAAAAAATGTACAGATTAAAATTAT
TCAGTGTTATGTACTGTAAGTTAATATTTTTGTAGAATGGACATCAATCTACTTTGCAAAATTT
GGAGGCTATTTCAACATTGCACTGTAGAAATGTAAAGTAATGTATGCAATGTAAAGGAAAGCCC
GCGGTAGCTGAGCGCTTCATAACAGAATGTTCTAATCAAGTACGTGGTATTTGGGGATGTCTCC
AATATTGCTCTTGTATTCTTTCTAATTGGGTTTAGTGACTAGTTGAAGGAAAATGTTATAACGC
CATTTGGTTCACATGTGAAGTGCCCTCCATAGCCAAATGTTGGGATTTTTTTTTTTTTCGTTTT
TGGTTGGACTGTTTGCAGATATTTAAATTTTATGAAATTTCCAAAGATTTTGGTTGATAACCCC
CTTTTACCTTCTAAATGATTTGAGATGTTCTTATGTTCTTACTGTGTGTTTTAAATATATATAA
AAGAGCCACAAGCATTTAGTCTTTTAGTATTATATTTGATCATATAACTACTACTGAAAAGGGG
TGGGGGGGAATGTGCCTGTGCACCCCTACAGTATCTTGTGTAGTGTCTATTAACATTGTTCTCT
TTTAGAGGACCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001243230 ⟹ NP_001230159

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,588,617 (-)	NCBI
GRCh37	18	52,889,562 - 53,303,252 (-)	NCBI
HuRef	18	49,599,225 - 50,013,477 (-)	NCBI
CHM1_1	18	52,884,825 - 53,251,090 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,791,669 (-)	NCBI

Sequence:

show sequence

GTGAGTGAGAGGGAACGAGAGTAAGAGAAAGAAAGAAGTGAGGGGATGTAAACTCGAATAAATT
TCAAAGTGCCTCCGAGGGATGCAACGGGCAAAAACTGAACTGTTCAGGCTTCAGATTGTAACTG
ACGATCTGAGGAAAAATGAGATGTTTTCACCTCCTGTGAGCAGTGGGAAAAATGGACCAACTTC
TTTGGCAAGTGGACATTTTACTGGCTCAAATGTAGAAGACAGAAGTAGCTCAGGGTCCTGGGGG
AATGGAGGACATCCAAGCCCGTCCAGGAACTATGGAGATGGGACTCCCTATGACCACATGACCA
GCAGGGACCTTGGGTCACATGACAATCTCTCTCCACCTTTTGTCAATTCCAGAATACAAAGTAA
AACAGAAAGGGGCTCATACTCATCTTATGGGAGAGAATCAAACTTACAGGGTTGCCACCAGCAG
AGTCTCCTTGGAGGTGACATGGATATGGGCAACCCAGGAACCCTTTCGCCCACCAAACCTGGTT
CCCAGTACTATCAGTATTCTAGCAATAATCCCCGAAGGAGGCCTCTTCACAGTAGTGCCATGGA
GGTACAGACAAAGAAAGTTCGAAAAGTTCCTCCAGGTTTGCCATCTTCAGTCTATGCTCCATCA
GCAAGCACTGCCGACTACAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACCAGCA
CTTTCCCTAGCTCCTTCTTCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCTCCAG
TGGGATGAATCAGCCTGGCTATGCAGGAATGTTGGGCAACTCTTCTCATATTCCACAGTCCAGC
AGCTACTGTAGCCTGCATCCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGACATCA
ATTCCAGTCTTCCTCCGATGTCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCTCTTC
CTGTACGCCTCCTGCCAACGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGCCGGC
AGCTCCCAGACTGGAGATGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCACACTA
ACAACAGCTTTTCATCAAACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAGGCACAGC
TGTTTGGTCTAGAAATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTTACACTCT
TTGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACC
ATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACC
TTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAAC
AGACATTCACTCATGGTGGGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTC
TTCTGCCAAACCAGGTTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAA
CCCACCCCAGGACCCTTACAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGC
AGCTCTGAGATCAAATCCGATGACGAGGGTGATGAGAACCTGCAAGACACGAAATCTTCGGAGG
ACAAGAAATTAGATGACGACAAGAAGGATATCAAATCAATTACTAGCAATAATGACGATGAGGA
CCTGACACCAGAGCAGAAGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAG
CGTCTGCGGGTCCGTGACATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACC
TCAAGAGTGACAAGCCCCAGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAG
TCTGGAGCAGCAAGTCCGAGAAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAG
GAAGAGAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGAATGGGAG
ACGCATCGAATCACATGGGACAGATGTAAAAGGGTCCAAGTTGCCACATTGCTTCATTAAAACA
AGAGACCACTTCCTTAACAGCTGTATTATCTTAAACCCACATAAACACTTCTCCTTAACCCCCA
TTTTTGTAATATAAGACAAGTCTGAGTAGTTATGAATCGCAGACGCAAGAGGTTTCAGCATTCC
CAATTATCAAAAAACAGAAAAACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGACGACTTT
CTTTAACATATCATTCAGAATGTGCAAAGCAGTATGTACAGGCTGAGACACAGCCCAGAGACTG
AACGGCAATCTTTCCACACTGTGGAACAATGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAAA
ATATAATTAATTTGTAAGTCTGAAAAAAAAATATTTAATTTAAAAAAAATTGTAAACTTGCAAT
AATGAAAAAGTGTACTTCTGAAGAAAACTACATGAACGTTTTTGTTGGTATTCAAGTCAGCTAG
TGTTTATAATTACTGGATATTGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAAA
CGTCCTGATGACAACGAAGTGATGACATTAGCCATTCCTTAGGGTAGGAGGAACAGATGGATCT
TATAGACCTATGACAAATATATATATAAATATATATATAAATATATATTAAAAATTTAGTGACT
ATGGTAAGCTTTTGTTCATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGTACTGATTAAC
TTTTTTAAAAGAAAGATTTTACTGTAAATATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCCC
TTTCCCTGGTTTGTTATCGTAACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGATG
AAATGCTGACCCTGATGTTGCTTCTCATTCATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTT
GGGAACACAGGACTTAAAAGTCACATCATGTGTAGATATTACAAGCAGCATTACCAAGACATGG
CAAAAAGAGTTTGTCTGAATTGTAATGTTGCGTTTGTGAACCTATTCTGGGATTTTCAGAGGTA
CAAGGTTAGAATGCTACAATGTTACCACTGTGCCTTCCAATGTTTATATCATCGGAAACATAAC
ATAATCAAAGTGGCTGTGATTTAACAAAATGATTAAAGTGTTACCTACCTGTGTAGCCGAAGTA
GTGTGCAGTGAGGCGTTTCTGAATACATGGTCAGATTTTTGGAAAAAAACAAAAACAAAAAAAA
CAAGTAAAGTTCAAAAACCGTCAAATGAGAAAATTGCAAGTAGTGTGACAGAGCTGATTGATTT
TGTTGCTTTCTTGATTTTTTTTTTCAAAATGGGTTTACTAAAATGTAGATGACTTAACTGCCTC
CTCCTTCGTCTGAAAAATGCCAATATTCAATCATCATGCAGCATTATAACAAGCCTTATAAGTC
CTAAAGCATTAAGTTGCACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAAT
GAAGTTTATACTTACCATATTTGATAGAAACATAGATCAAGCTATGGCACAGCGACTCATCAGA
TAGCTAGCTTTGACGTCTGGGCACAATTGAACCAACTTCCATCGTGAATCTTTATAATGATTGA
CTTTGGTGTATAGTGCAGTAAACAAATAGTGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTGT
CTCTAACTTGTTTCTATTTTTACAGCCACACAATTCTTGGCATGTATTAAGAAAAAAAAAAATC
CCTGTTCAAGTAGTTTTTCCACCTATCAGCACTGAGTAAATGCCATAAATCCATTGAAATGGTC
TAAATGTTCCATCTGTTCTCCTGTTTTGCCAGTTATATAGTAATGAAATACATTTGTAAATTTT
ATGCAACAAATGGCAAACGTATCATTATTTTGAAATTGTGTATGTAAAAGTTATATTTTTACAT
GTAGACTCTTGTTATTATGTGTTTTAATACATTGTATCAGTTTTTGTTTTTTTTTAAAAACTGT
GGTTTAAAAAGAAGTCTCATTTAAATGAAATAGCTACAAGAATCAGAATTTTATGTTCATTTCT
GAAAATGTAAGAACAAATAAGATAGTTACCACGTGGTCATCTTTTACAAACCCATAAACATTTT
GATTAGCTGTGTGTGTGTTGAAAAACTGTAAATATGTTCAGTAGCGATAAAACTAAAATAACTT
TGATTTGTTGATAAGTTCCTAAAATGTGGAGGTGGATTAAAACCTTAGGAGAATAGCAGAAATC
AAACTTCATGAAAAGTTATTTTGGGGCTTTCCTGTGAAATGTATGAACAAAGAGGCTCAGAGAA
GGACATGGAAGACAATAATGTATACTCTCTCCTCCTCCCTGAATAATGAAAACCATGTGTATTT
GTTCCCTCCGTATGTTAAAGATTTCCTTTTAGTGGTACATTCTGCACTCATTTTGTATAGTCTA
CCAAGGCGGGTATCCCTAGGAACAATATTATATAGGAAGCAGGTATACTCTGATCACATTCAGG
ATAAGTGTACAGAAGAAAATACGGTGTTTACTCTTTAGGGAACTGGAAACACTCCCTGCATTGA
TGTACATTTTAAGAATGGCACTTTTGATACATGTTATCATAAAGGTGCTTAATAGAGCTGAATT
AAAGTTTTTCAAATCTGTAAACAAAGCAAAAAAGTAAATTGTAGTCATTTGATTATTTTTTAAA
TTGGTGCTTTATATTTTGTTCTCACTCAGAGTAAAAGCTGCAATTTATTGTTCACCAGCTTTGA
TGTATTCATTACTCAGTAATGCAATACCTCTATTGTTGAATTCCCTTTGGAAATAAGTGAAAAT
TCTAACGGCCACTGAAAGCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACATAATCTGCACCTAT
CCATATTAATTGGGTTGTATCCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTG
TTTTTTATTGTTGTTGTTTTGTAATTATCAAACCCAGGTAAGATATTGGTATCCTGCACTGGAT
TTTCAAATGAAGTTCAGCAGAAGACAGTTAAGATTAAAGTACTATACAAAAATTTCAAAAGGGT
CCATACTACGCTATCTGTATGACGACACTTAGGCTGGGGATCTCTTTCAGAAACTCGGACTTTA
AAAGCAACTTGGAGCAGTTGATCCACCTCCACATTCAAGTAATTTATGAATATGCAGAATAGGG
ATCTGTTCATCTAGAAATTTTTACCATTTGTCTTCTGTGTAGCTGCAAGGAACACTAATGTTTA
TACAACTGTCAGTCCACCCAGTGGTGCAACTGGTTCTGATTCAGTCTTCCGATTCCTTTTTATT
TTTCACTTTTTCCTATTTCTGAATTTTTTTTTTTATTTGTGATCTTGATTTTGATGAGGGGTTG
GGGAGTGGGGAGGGAGTCGAACCAAGACTTGGAGTTAAGAGGATTTTCATCTTTTGCATCCAAC
AGGCAGAATATGATCTGTGTCCAAAAGTGAACTTGAGTCAGGAATGAATCAATTTCAGCATAAA
CAAGCACAAAAATTTAGTCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGAATATGATGAA
TTCCAACACAATGGGGCACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTG
TTTTTCTTTAGAGACATGCTCTTTCTCATGGGACTTGAAGTGGACTCATCTTTGTGCAGTGCTG
GTTTTGCCATACTCATTTCAAGTATTATAGACATATGTAATGGTGAAAATATATGAACTGTGGC
CTTTTTCATTCTTGTTACTTGTGATGCAATTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGA
GATTTACCATGTATCAGTGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGC
TATAAAATAGACTGTAGTACACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAAAATAAAAAAT
ATATTTGGCTTATTTTTCGCAGGAGCAATCCTTTTATACCATGAATATTACAAAAAAATTGTCA
GATTCTGAATATTTCTTCTTTGTAGATTTTTGGAATCATTATGAGTAAAAGTTTGTTACTTTAT
TTTACTATTTAAAAGATGTTATTTTACCATGTGTTACCAAGATGAAACTGTATGGGTAGCTTTT
TTGTTTGTTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAA
ATTTTTTGCGACTGTACACATAGCTGCAGCATTAAAAACTTAAAAAAATTGTTAAAAAAAAAAA
AAGGGAAAACATTTCAAAAAAAAAAAAAAAGATAAACAGTTACACCTTGTTTTCAATGTGTGGC
TGAGTGCCTCGATTTTTTCATGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTCCAAACAGGTT
GTGTGCTGGAGTTCCTTCAAGACAAAAACAAACCCAGCTTGGTCAAGGCCATTACCTGTTTCCC
ATCTGTAGTTATTCGATGAAGTCATGTACATGACCGTTCTGTAGCAATAAATGTGCCATTTTTA
TAAACTGTTTCTGACACTTGTTTCATTTCATTTTGCATTGTCCATATAGCTATGATTCTCTTCT
GTAAGTAAAACGCATCTATATTTCATTTTCCAAGTGTTGGAGGTATTGACAGCTTAACAAACAA
AACATACAAAAAAAATCACAAAAACAAATTGAAAAGCAAAGCACATGATTGATCAAGGAAGAGA
TGCCCTTAATGAAAATGGAACGGGATGCATGCAAAACAAAAAGAAAACTGTCTAGAGGATTAAC
TAATTGAAGGAATATAATTAATGTGTGTGTAACACTGAAGCTATGCATTTGAAGAGCTCTGAAC
TGCACCAGTGTTTTCGGTTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACCA
GTTGGTCGGCTGTTTGGCAGAACATTCTCAGATCTTTTCAGTCAAAAATCTAAGATGATTTATT
TTGTATCACTTTGTTAAAAGCTGAATATTGTTAACTACAGTTAATATTAACACTGTATTTATAC
TTTCTCAAACTACATCCGCCCCACCACTTCTGGTTGCCTCTGTTGACTATTAATCCAGATGTAA
ACAACCAGATGTTTTTTTCTAACTTGTACAAACTGACGTGTGTCAACTATCATGGAAGGAAAAA
AATGTACAGATTAAAATTATTCAGTGTTATGTACTGTAAGTTAATATTTTTGTAGAATGGACAT
CAATCTACTTTGCAAAATTTGGAGGCTATTTCAACATTGCACTGTAGAAATGTAAAGTAATGTA
TGCAATGTAAAGGAAAGCCCGCGGTAGCTGAGCGCTTCATAACAGAATGTTCTAATCAAGTACG
TGGTATTTGGGGATGTCTCCAATATTGCTCTTGTATTCTTTCTAATTGGGTTTAGTGACTAGTT
GAAGGAAAATGTTATAACGCCATTTGGTTCACATGTGAAGTGCCCTCCATAGCCAAATGTTGGG
ATTTTTTTTTTTTTCGTTTTTGGTTGGACTGTTTGCAGATATTTAAATTTTATGAAATTTCCAA
AGATTTTGGTTGATAACCCCCTTTTACCTTCTAAATGATTTGAGATGTTCTTATGTTCTTACTG
TGTGTTTTAAATATATATAAAAGAGCCACAAGCATTTAGTCTTTTAGTATTATATTTGATCATA
TAACTACTACTGAAAAGGGGTGGGGGGGAATGTGCCTGTGCACCCCTACAGTATCTTGTGTAGT
GTCTATTAACATTGTTCTCTTTTAGAGGACCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001243231 ⟹ NP_001230160

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,510,772 (-)	NCBI
GRCh37	18	52,889,562 - 53,303,252 (-)	NCBI
HuRef	18	49,599,225 - 50,013,477 (-)	NCBI
CHM1_1	18	52,884,825 - 53,173,249 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,713,873 (-)	NCBI

Sequence:

show sequence

ATCATTAACTCATGTTCTGTTTCCATGGAGCACAGGAGAGTAACAAGGAAGGCCCCTTAAAAGA
AAGGCCTTTTAAAGTGGAGGTCTCAGTTCACAAACTTTAAAAGTTTACGAAGTAGTATTTTAGA
ATTTTAATCACCAGATATATTGGGGGAATTTATTACTTCCTATTCATATGGAAGAGGACAGCAG
AGATGTAGAAGACAGAAGTAGCTCAGGGTCCTGGGGGAATGGAGGACATCCAAGCCCGTCCAGG
AACTATGGAGATGGGACTCCCTATGACCACATGACCAGCAGGGACCTTGGGTCACATGACAATC
TCTCTCCACCTTTTGTCAATTCCAGAATACAAAGTAAAACAGAAAGGGGCTCATACTCATCTTA
TGGGAGAGAATCAAACTTACAGGGTTGCCACCAGCAGAGTCTCCTTGGAGGTGACATGGATATG
GGCAACCCAGGAACCCTTTCGCCCACCAAACCTGGTTCCCAGTACTATCAGTATTCTAGCAATA
ATCCCCGAAGGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGACAAAGAAAGTTCGAAAAGT
TCCTCCAGGTTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCACTGCCGACTACAATAGGGAC
TCGCCAGGCTATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCTAGCTCCTTCTTCATGCAAG
ATGGCCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTGGCTATGCAGG
AATGTTGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCATCCACATGAA
CGTTTGAGCTATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCGATGTCCACTT
TCCATCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCCAACGGGACAGA
CAGTATAATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCAGACTGGAGATGCTCTGGGG
AAAGCACTTGCTTCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATCAAACCCTTCAA
CTCCTGTTGGCTCTCCTCCATCTCTCTCAGCAGGCACAGCTGTTTGGTCTAGAAATGGAGGACA
GGCCTCATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCGAATTGAAGATCGT
TTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTA
TGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGG
TCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTGGGGACC
CATCGTGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTGCCAAACCAGGTTCCGGTTC
CACAGCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCACCCCAGGACCCTTACAGAGG
CATGCCACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTCTGAGATCAAATCCGATGAC
GAGGGTGATGAGAACCTGCAAGACACGAAATCTTCGGAGGACAAGAAATTAGATGACGACAAGA
AGGATATCAAATCAATTACTAGCAATAATGACGATGAGGACCTGACACCAGAGCAGAAGGCAGA
GCGTGAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCGTCTGCGGGTCCGTGACATCAAC
GAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCTCAAGAGTGACAAGCCCCAGACCA
AGCTCCTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAGTCTGGAGCAGCAAGTCCGAGAAAG
GAATCTGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGGAAGAGAAGGTGTCCTCAGAGCCT
CCCCCTCTCTCCTTGGCCGGCCCACACCCTGGAATGGGAGACGCATCGAATCACATGGGACAGA
TGTAAAAGGGTCCAAGTTGCCACATTGCTTCATTAAAACAAGAGACCACTTCCTTAACAGCTGT
ATTATCTTAAACCCACATAAACACTTCTCCTTAACCCCCATTTTTGTAATATAAGACAAGTCTG
AGTAGTTATGAATCGCAGACGCAAGAGGTTTCAGCATTCCCAATTATCAAAAAACAGAAAAACA
AAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGACGACTTTCTTTAACATATCATTCAGAATGTG
CAAAGCAGTATGTACAGGCTGAGACACAGCCCAGAGACTGAACGGCAATCTTTCCACACTGTGG
AACAATGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAAAATATAATTAATTTGTAAGTCTGAA
AAAAAAATATTTAATTTAAAAAAAATTGTAAACTTGCAATAATGAAAAAGTGTACTTCTGAAGA
AAACTACATGAACGTTTTTGTTGGTATTCAAGTCAGCTAGTGTTTATAATTACTGGATATTGAA
TTAGGGGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAAACGTCCTGATGACAACGAAGTGATG
ACATTAGCCATTCCTTAGGGTAGGAGGAACAGATGGATCTTATAGACCTATGACAAATATATAT
ATAAATATATATATAAATATATATTAAAAATTTAGTGACTATGGTAAGCTTTTGTTCATTTGTT
TCAGACTTTTTTCTCCTGTAAAAAAATAGTACTGATTAACTTTTTTAAAAGAAAGATTTTACTG
TAAATATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCCCTTTCCCTGGTTTGTTATCGTAACC
TGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGATGAAATGCTGACCCTGATGTTGCTTC
TCATTCATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTTGGGAACACAGGACTTAAAAGTCAC
ATCATGTGTAGATATTACAAGCAGCATTACCAAGACATGGCAAAAAGAGTTTGTCTGAATTGTA
ATGTTGCGTTTGTGAACCTATTCTGGGATTTTCAGAGGTACAAGGTTAGAATGCTACAATGTTA
CCACTGTGCCTTCCAATGTTTATATCATCGGAAACATAACATAATCAAAGTGGCTGTGATTTAA
CAAAATGATTAAAGTGTTACCTACCTGTGTAGCCGAAGTAGTGTGCAGTGAGGCGTTTCTGAAT
ACATGGTCAGATTTTTGGAAAAAAACAAAAACAAAAAAAACAAGTAAAGTTCAAAAACCGTCAA
ATGAGAAAATTGCAAGTAGTGTGACAGAGCTGATTGATTTTGTTGCTTTCTTGATTTTTTTTTT
CAAAATGGGTTTACTAAAATGTAGATGACTTAACTGCCTCCTCCTTCGTCTGAAAAATGCCAAT
ATTCAATCATCATGCAGCATTATAACAAGCCTTATAAGTCCTAAAGCATTAAGTTGCACTTTTT
TGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAATGAAGTTTATACTTACCATATTTGA
TAGAAACATAGATCAAGCTATGGCACAGCGACTCATCAGATAGCTAGCTTTGACGTCTGGGCAC
AATTGAACCAACTTCCATCGTGAATCTTTATAATGATTGACTTTGGTGTATAGTGCAGTAAACA
AATAGTGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTGTCTCTAACTTGTTTCTATTTTTACA
GCCACACAATTCTTGGCATGTATTAAGAAAAAAAAAAATCCCTGTTCAAGTAGTTTTTCCACCT
ATCAGCACTGAGTAAATGCCATAAATCCATTGAAATGGTCTAAATGTTCCATCTGTTCTCCTGT
TTTGCCAGTTATATAGTAATGAAATACATTTGTAAATTTTATGCAACAAATGGCAAACGTATCA
TTATTTTGAAATTGTGTATGTAAAAGTTATATTTTTACATGTAGACTCTTGTTATTATGTGTTT
TAATACATTGTATCAGTTTTTGTTTTTTTTTAAAAACTGTGGTTTAAAAAGAAGTCTCATTTAA
ATGAAATAGCTACAAGAATCAGAATTTTATGTTCATTTCTGAAAATGTAAGAACAAATAAGATA
GTTACCACGTGGTCATCTTTTACAAACCCATAAACATTTTGATTAGCTGTGTGTGTGTTGAAAA
ACTGTAAATATGTTCAGTAGCGATAAAACTAAAATAACTTTGATTTGTTGATAAGTTCCTAAAA
TGTGGAGGTGGATTAAAACCTTAGGAGAATAGCAGAAATCAAACTTCATGAAAAGTTATTTTGG
GGCTTTCCTGTGAAATGTATGAACAAAGAGGCTCAGAGAAGGACATGGAAGACAATAATGTATA
CTCTCTCCTCCTCCCTGAATAATGAAAACCATGTGTATTTGTTCCCTCCGTATGTTAAAGATTT
CCTTTTAGTGGTACATTCTGCACTCATTTTGTATAGTCTACCAAGGCGGGTATCCCTAGGAACA
ATATTATATAGGAAGCAGGTATACTCTGATCACATTCAGGATAAGTGTACAGAAGAAAATACGG
TGTTTACTCTTTAGGGAACTGGAAACACTCCCTGCATTGATGTACATTTTAAGAATGGCACTTT
TGATACATGTTATCATAAAGGTGCTTAATAGAGCTGAATTAAAGTTTTTCAAATCTGTAAACAA
AGCAAAAAAGTAAATTGTAGTCATTTGATTATTTTTTAAATTGGTGCTTTATATTTTGTTCTCA
CTCAGAGTAAAAGCTGCAATTTATTGTTCACCAGCTTTGATGTATTCATTACTCAGTAATGCAA
TACCTCTATTGTTGAATTCCCTTTGGAAATAAGTGAAAATTCTAACGGCCACTGAAAGCTGCTC
GCTAGGTTTTGCTTGGTGGAGAAACATAATCTGCACCTATCCATATTAATTGGGTTGTATCCCC
ATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTGTTTTTTATTGTTGTTGTTTTGTAA
TTATCAAACCCAGGTAAGATATTGGTATCCTGCACTGGATTTTCAAATGAAGTTCAGCAGAAGA
CAGTTAAGATTAAAGTACTATACAAAAATTTCAAAAGGGTCCATACTACGCTATCTGTATGACG
ACACTTAGGCTGGGGATCTCTTTCAGAAACTCGGACTTTAAAAGCAACTTGGAGCAGTTGATCC
ACCTCCACATTCAAGTAATTTATGAATATGCAGAATAGGGATCTGTTCATCTAGAAATTTTTAC
CATTTGTCTTCTGTGTAGCTGCAAGGAACACTAATGTTTATACAACTGTCAGTCCACCCAGTGG
TGCAACTGGTTCTGATTCAGTCTTCCGATTCCTTTTTATTTTTCACTTTTTCCTATTTCTGAAT
TTTTTTTTTTATTTGTGATCTTGATTTTGATGAGGGGTTGGGGAGTGGGGAGGGAGTCGAACCA
AGACTTGGAGTTAAGAGGATTTTCATCTTTTGCATCCAACAGGCAGAATATGATCTGTGTCCAA
AAGTGAACTTGAGTCAGGAATGAATCAATTTCAGCATAAACAAGCACAAAAATTTAGTCTGCTG
GCTGACTGGAAGCAAAAAAGTCAAGATGGAATATGATGAATTCCAACACAATGGGGCACCAAGG
CCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTGTTTTTCTTTAGAGACATGCTCTTT
CTCATGGGACTTGAAGTGGACTCATCTTTGTGCAGTGCTGGTTTTGCCATACTCATTTCAAGTA
TTATAGACATATGTAATGGTGAAAATATATGAACTGTGGCCTTTTTCATTCTTGTTACTTGTGA
TGCAATTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGAGATTTACCATGTATCAGTGCCTGG
CTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCTATAAAATAGACTGTAGTACACCC
TAGTAGGAAAAAAAAAAAACTAAATTTAAAAATAAAAAATATATTTGGCTTATTTTTCGCAGGA
GCAATCCTTTTATACCATGAATATTACAAAAAAATTGTCAGATTCTGAATATTTCTTCTTTGTA
GATTTTTGGAATCATTATGAGTAAAAGTTTGTTACTTTATTTTACTATTTAAAAGATGTTATTT
TACCATGTGTTACCAAGATGAAACTGTATGGGTAGCTTTTTTGTTTGTTTTTTGTTTTGTTTTT
GTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAATTTTTTGCGACTGTACACATAGC
TGCAGCATTAAAAACTTAAAAAAATTGTTAAAAAAAAAAAAAGGGAAAACATTTCAAAAAAAAA
AAAAAAGATAAACAGTTACACCTTGTTTTCAATGTGTGGCTGAGTGCCTCGATTTTTTCATGTT
TTTGGTGTATTTCTGATTTGTAGAAGTGTCCAAACAGGTTGTGTGCTGGAGTTCCTTCAAGACA
AAAACAAACCCAGCTTGGTCAAGGCCATTACCTGTTTCCCATCTGTAGTTATTCGATGAAGTCA
TGTACATGACCGTTCTGTAGCAATAAATGTGCCATTTTTATAAACTGTTTCTGACACTTGTTTC
ATTTCATTTTGCATTGTCCATATAGCTATGATTCTCTTCTGTAAGTAAAACGCATCTATATTTC
ATTTTCCAAGTGTTGGAGGTATTGACAGCTTAACAAACAAAACATACAAAAAAAATCACAAAAA
CAAATTGAAAAGCAAAGCACATGATTGATCAAGGAAGAGATGCCCTTAATGAAAATGGAACGGG
ATGCATGCAAAACAAAAAGAAAACTGTCTAGAGGATTAACTAATTGAAGGAATATAATTAATGT
GTGTGTAACACTGAAGCTATGCATTTGAAGAGCTCTGAACTGCACCAGTGTTTTCGGTTGTGCT
GCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACCAGTTGGTCGGCTGTTTGGCAGAACA
TTCTCAGATCTTTTCAGTCAAAAATCTAAGATGATTTATTTTGTATCACTTTGTTAAAAGCTGA
ATATTGTTAACTACAGTTAATATTAACACTGTATTTATACTTTCTCAAACTACATCCGCCCCAC
CACTTCTGGTTGCCTCTGTTGACTATTAATCCAGATGTAAACAACCAGATGTTTTTTTCTAACT
TGTACAAACTGACGTGTGTCAACTATCATGGAAGGAAAAAAATGTACAGATTAAAATTATTCAG
TGTTATGTACTGTAAGTTAATATTTTTGTAGAATGGACATCAATCTACTTTGCAAAATTTGGAG
GCTATTTCAACATTGCACTGTAGAAATGTAAAGTAATGTATGCAATGTAAAGGAAAGCCCGCGG
TAGCTGAGCGCTTCATAACAGAATGTTCTAATCAAGTACGTGGTATTTGGGGATGTCTCCAATA
TTGCTCTTGTATTCTTTCTAATTGGGTTTAGTGACTAGTTGAAGGAAAATGTTATAACGCCATT
TGGTTCACATGTGAAGTGCCCTCCATAGCCAAATGTTGGGATTTTTTTTTTTTTCGTTTTTGGT
TGGACTGTTTGCAGATATTTAAATTTTATGAAATTTCCAAAGATTTTGGTTGATAACCCCCTTT
TACCTTCTAAATGATTTGAGATGTTCTTATGTTCTTACTGTGTGTTTTAAATATATATAAAAGA
GCCACAAGCATTTAGTCTTTTAGTATTATATTTGATCATATAACTACTACTGAAAAGGGGTGGG
GGGGAATGTGCCTGTGCACCCCTACAGTATCTTGTGTAGTGTCTATTAACATTGTTCTCTTTTA
GAGGACCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001243232 ⟹ NP_001230161

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,331 - 55,403,995 (-)	NCBI
GRCh37	18	52,889,562 - 53,303,252 (-)	NCBI
HuRef	18	49,599,225 - 50,013,477 (-)	NCBI
CHM1_1	18	52,884,825 - 53,066,472 (-)	NCBI
T2T-CHM13v2.0	18	55,425,420 - 55,607,075 (-)	NCBI

Sequence:

show sequence

GACTCAGAATTTTGAATAGTTTCTTTGCTAAATTCACCATCTGGAGAGCCTGTGATTGATTAGT
TTTGGCCTCACTATTAAGTGTCAATATAATCAATGGGAATTACTAGGCTAGGGTCATTACATAG
ATAATTTGCCTGCTGTGTAAATAAAAATGAAATTGTTTAAATTTTGTGCAAGAGAAAGTGAAAA
TAAGGAGTTACGATTTGTTTGTTAGAGAAAGTGGAGGCCATTGGAATGACAGTTTTTGGAAGTG
TGGAGCAGTTTGGCTAAGAATAGGAATGAAGGATATTTTTTTCCAGTTTATCATAGCCAGAGTG
AGGAAGTGTTATTCCCTCTCTTGCTTGCATACATTGCCAGTAGTGCCTACTTTACGTAAAACAG
AAAGGGGCTCATACTCATCTTATGGGAGAGAATCAAACTTACAGGGTTGCCACCAGAGTCTCCT
TGGAGGTGACATGGATATGGGCAACCCAGGAACCCTTTCGCCCACCAAACCTGGTTCCCAGTAC
TATCAGTATTCTAGCAATAATCCCCGAAGGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGA
CAAAGAAAGTTCGAAAAGTTCCTCCAGGTTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCAC
TGCCGACTACAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCT
AGCTCCTTCTTCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGA
ATCAGCCTGGCTATGCAGGAATGTTGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTACTG
TAGCCTGCATCCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGACATCAATTCCAGT
CTTCCTCCGATGTCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGC
CTCCTGCCAACGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCA
GACTGGAGATGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCACACTAACAACAGC
TTTTCATCAAACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAGCAGGCACAGCTGTTT
GGTCTAGAAATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCA
AAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCA
GTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTC
ATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACA
TTCACTCATGGTGGGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTG
CCAAACCAGGTTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCAC
CCCAGGACCCTTACAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTC
TGAGATCAAATCCGATGACGAGGGTGATGAGAACCTGCAAGACACGAAATCTTCGGAGGACAAG
AAATTAGATGACGACAAGAAGGATATCAAATCAATTACTAGGTCAAGATCTAGCAATAATGACG
ATGAGGACCTGACACCAGAGCAGAAGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGC
CCGAGAGCGTCTGCGGGTCCGTGACATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAG
CTCCACCTCAAGAGTGACAAGCCCCAGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCA
TCCTCAGTCTGGAGCAGCAAGTCCGAGAAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAG
AAGGGAGGAAGAGAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGA
ATGGGAGACGCATCGAATCACATGGGACAGATGTAAAAGGGTCCAAGTTGCCACATTGCTTCAT
TAAAACAAGAGACCACTTCCTTAACAGCTGTATTATCTTAAACCCACATAAACACTTCTCCTTA
ACCCCCATTTTTGTAATATAAGACAAGTCTGAGTAGTTATGAATCGCAGACGCAAGAGGTTTCA
GCATTCCCAATTATCAAAAAACAGAAAAACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGA
CGACTTTCTTTAACATATCATTCAGAATGTGCAAAGCAGTATGTACAGGCTGAGACACAGCCCA
GAGACTGAACGGCAATCTTTCCACACTGTGGAACAATGCATTTGTGCCTAAACTTCTTTTGGAA
AAAAAAAATATAATTAATTTGTAAGTCTGAAAAAAAAATATTTAATTTAAAAAAAATTGTAAAC
TTGCAATAATGAAAAAGTGTACTTCTGAAGAAAACTACATGAACGTTTTTGTTGGTATTCAAGT
CAGCTAGTGTTTATAATTACTGGATATTGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAAAAC
CAGCAAACGTCCTGATGACAACGAAGTGATGACATTAGCCATTCCTTAGGGTAGGAGGAACAGA
TGGATCTTATAGACCTATGACAAATATATATATAAATATATATATAAATATATATTAAAAATTT
AGTGACTATGGTAAGCTTTTGTTCATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGTACT
GATTAACTTTTTTAAAAGAAAGATTTTACTGTAAATATGGATTTTTTTTTTTTTGGTCTTATTT
CTGTCCCTTTCCCTGGTTTGTTATCGTAACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTG
CAGGATGAAATGCTGACCCTGATGTTGCTTCTCATTCATAAATAAGTAGAAAGTTGTTTCTCCA
GTCTTTTGGGAACACAGGACTTAAAAGTCACATCATGTGTAGATATTACAAGCAGCATTACCAA
GACATGGCAAAAAGAGTTTGTCTGAATTGTAATGTTGCGTTTGTGAACCTATTCTGGGATTTTC
AGAGGTACAAGGTTAGAATGCTACAATGTTACCACTGTGCCTTCCAATGTTTATATCATCGGAA
ACATAACATAATCAAAGTGGCTGTGATTTAACAAAATGATTAAAGTGTTACCTACCTGTGTAGC
CGAAGTAGTGTGCAGTGAGGCGTTTCTGAATACATGGTCAGATTTTTGGAAAAAAACAAAAACA
AAAAAAACAAGTAAAGTTCAAAAACCGTCAAATGAGAAAATTGCAAGTAGTGTGACAGAGCTGA
TTGATTTTGTTGCTTTCTTGATTTTTTTTTTCAAAATGGGTTTACTAAAATGTAGATGACTTAA
CTGCCTCCTCCTTCGTCTGAAAAATGCCAATATTCAATCATCATGCAGCATTATAACAAGCCTT
ATAAGTCCTAAAGCATTAAGTTGCACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAG
TATGAATGAAGTTTATACTTACCATATTTGATAGAAACATAGATCAAGCTATGGCACAGCGACT
CATCAGATAGCTAGCTTTGACGTCTGGGCACAATTGAACCAACTTCCATCGTGAATCTTTATAA
TGATTGACTTTGGTGTATAGTGCAGTAAACAAATAGTGCTCCTAGTTAAGTATTTGTCAGCATC
CTTTTGTCTCTAACTTGTTTCTATTTTTACAGCCACACAATTCTTGGCATGTATTAAGAAAAAA
AAAAATCCCTGTTCAAGTAGTTTTTCCACCTATCAGCACTGAGTAAATGCCATAAATCCATTGA
AATGGTCTAAATGTTCCATCTGTTCTCCTGTTTTGCCAGTTATATAGTAATGAAATACATTTGT
AAATTTTATGCAACAAATGGCAAACGTATCATTATTTTGAAATTGTGTATGTAAAAGTTATATT
TTTACATGTAGACTCTTGTTATTATGTGTTTTAATACATTGTATCAGTTTTTGTTTTTTTTTAA
AAACTGTGGTTTAAAAAGAAGTCTCATTTAAATGAAATAGCTACAAGAATCAGAATTTTATGTT
CATTTCTGAAAATGTAAGAACAAATAAGATAGTTACCACGTGGTCATCTTTTACAAACCCATAA
ACATTTTGATTAGCTGTGTGTGTGTTGAAAAACTGTAAATATGTTCAGTAGCGATAAAACTAAA
ATAACTTTGATTTGTTGATAAGTTCCTAAAATGTGGAGGTGGATTAAAACCTTAGGAGAATAGC
AGAAATCAAACTTCATGAAAAGTTATTTTGGGGCTTTCCTGTGAAATGTATGAACAAAGAGGCT
CAGAGAAGGACATGGAAGACAATAATGTATACTCTCTCCTCCTCCCTGAATAATGAAAACCATG
TGTATTTGTTCCCTCCGTATGTTAAAGATTTCCTTTTAGTGGTACATTCTGCACTCATTTTGTA
TAGTCTACCAAGGCGGGTATCCCTAGGAACAATATTATATAGGAAGCAGGTATACTCTGATCAC
ATTCAGGATAAGTGTACAGAAGAAAATACGGTGTTTACTCTTTAGGGAACTGGAAACACTCCCT
GCATTGATGTACATTTTAAGAATGGCACTTTTGATACATGTTATCATAAAGGTGCTTAATAGAG
CTGAATTAAAGTTTTTCAAATCTGTAAACAAAGCAAAAAAGTAAATTGTAGTCATTTGATTATT
TTTTAAATTGGTGCTTTATATTTTGTTCTCACTCAGAGTAAAAGCTGCAATTTATTGTTCACCA
GCTTTGATGTATTCATTACTCAGTAATGCAATACCTCTATTGTTGAATTCCCTTTGGAAATAAG
TGAAAATTCTAACGGCCACTGAAAGCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACATAATCTG
CACCTATCCATATTAATTGGGTTGTATCCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTT
TAGTGTGTTTTTTATTGTTGTTGTTTTGTAATTATCAAACCCAGGTAAGATATTGGTATCCTGC
ACTGGATTTTCAAATGAAGTTCAGCAGAAGACAGTTAAGATTAAAGTACTATACAAAAATTTCA
AAAGGGTCCATACTACGCTATCTGTATGACGACACTTAGGCTGGGGATCTCTTTCAGAAACTCG
GACTTTAAAAGCAACTTGGAGCAGTTGATCCACCTCCACATTCAAGTAATTTATGAATATGCAG
AATAGGGATCTGTTCATCTAGAAATTTTTACCATTTGTCTTCTGTGTAGCTGCAAGGAACACTA
ATGTTTATACAACTGTCAGTCCACCCAGTGGTGCAACTGGTTCTGATTCAGTCTTCCGATTCCT
TTTTATTTTTCACTTTTTCCTATTTCTGAATTTTTTTTTTTATTTGTGATCTTGATTTTGATGA
GGGGTTGGGGAGTGGGGAGGGAGTCGAACCAAGACTTGGAGTTAAGAGGATTTTCATCTTTTGC
ATCCAACAGGCAGAATATGATCTGTGTCCAAAAGTGAACTTGAGTCAGGAATGAATCAATTTCA
GCATAAACAAGCACAAAAATTTAGTCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGAATA
TGATGAATTCCAACACAATGGGGCACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTT
TTGTTTGTTTTTCTTTAGAGACATGCTCTTTCTCATGGGACTTGAAGTGGACTCATCTTTGTGC
AGTGCTGGTTTTGCCATACTCATTTCAAGTATTATAGACATATGTAATGGTGAAAATATATGAA
CTGTGGCCTTTTTCATTCTTGTTACTTGTGATGCAATTAAGTGAAGATAAGAAAAAAAAAAAAA
AAGCAGAGATTTACCATGTATCAGTGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCT
CTTTTGCTATAAAATAGACTGTAGTACACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAAAAT
AAAAAATATATTTGGCTTATTTTTCGCAGGAGCAATCCTTTTATACCATGAATATTACAAAAAA
ATTGTCAGATTCTGAATATTTCTTCTTTGTAGATTTTTGGAATCATTATGAGTAAAAGTTTGTT
ACTTTATTTTACTATTTAAAAGATGTTATTTTACCATGTGTTACCAAGATGAAACTGTATGGGT
AGCTTTTTTGTTTGTTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAG
CGGGGAAATTTTTTGCGACTGTACACATAGCTGCAGCATTAAAAACTTAAAAAAATTGTTAAAA
AAAAAAAAAGGGAAAACATTTCAAAAAAAAAAAAAAAGATAAACAGTTACACCTTGTTTTCAAT
GTGTGGCTGAGTGCCTCGATTTTTTCATGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTCCAA
ACAGGTTGTGTGCTGGAGTTCCTTCAAGACAAAAACAAACCCAGCTTGGTCAAGGCCATTACCT
GTTTCCCATCTGTAGTTATTCGATGAAGTCATGTACATGACCGTTCTGTAGCAATAAATGTGCC
ATTTTTATAAACTGTTTCTGACACTTGTTTCATTTCATTTTGCATTGTCCATATAGCTATGATT
CTCTTCTGTAAGTAAAACGCATCTATATTTCATTTTCCAAGTGTTGGAGGTATTGACAGCTTAA
CAAACAAAACATACAAAAAAAATCACAAAAACAAATTGAAAAGCAAAGCACATGATTGATCAAG
GAAGAGATGCCCTTAATGAAAATGGAACGGGATGCATGCAAAACAAAAAGAAAACTGTCTAGAG
GATTAACTAATTGAAGGAATATAATTAATGTGTGTGTAACACTGAAGCTATGCATTTGAAGAGC
TCTGAACTGCACCAGTGTTTTCGGTTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTT
TGCACCAGTTGGTCGGCTGTTTGGCAGAACATTCTCAGATCTTTTCAGTCAAAAATCTAAGATG
ATTTATTTTGTATCACTTTGTTAAAAGCTGAATATTGTTAACTACAGTTAATATTAACACTGTA
TTTATACTTTCTCAAACTACATCCGCCCCACCACTTCTGGTTGCCTCTGTTGACTATTAATCCA
GATGTAAACAACCAGATGTTTTTTTCTAACTTGTACAAACTGACGTGTGTCAACTATCATGGAA
GGAAAAAAATGTACAGATTAAAATTATTCAGTGTTATGTACTGTAAGTTAATATTTTTGTAGAA
TGGACATCAATCTACTTTGCAAAATTTGGAGGCTATTTCAACATTGCACTGTAGAAATGTAAAG
TAATGTATGCAATGTAAAGGAAAGCCCGCGGTAGCTGAGCGCTTCATAACAGAATGTTCTAATC
AAGTACGTGGTATTTGGGGATGTCTCCAATATTGCTCTTGTATTCTTTCTAATTGGGTTTAGTG
ACTAGTTGAAGGAAAATGTTATAACGCCATTTGGTTCACATGTGAAGTGCCCTCCATAGCCAAA
TGTTGGGATTTTTTTTTTTTTCGTTTTTGGTTGGACTGTTTGCAGATATTTAAATTTTATGAAA
TTTCCAAAGATTTTGGTTGATAACCCCCTTTTACCTTCTAAATGATTTGAGATGTTCTTATGTT
CTTACTGTGTGTTTTAAATATATATAAAAGAGCCACAAGCATTT

hide sequence

RefSeq Acc Id:

NM_001243233 ⟹ NP_001230162

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,422,297 (-)	NCBI
GRCh37	18	52,889,562 - 53,303,252 (-)	NCBI
HuRef	18	49,599,225 - 50,013,477 (-)	NCBI
CHM1_1	18	52,884,825 - 53,084,969 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,625,376 (-)	NCBI

Sequence:

show sequence

AGATTCACGCCACAACAGTTTATTCATCCACATGCTTTTTGGCGACTCTTCATCACGTATTTGG
GCTTAGATCTTCTGGTGCCTCCCTCGGCGTGCTACCCATAAGGTCGAAAGAAAAGTAAAACAGA
AAGGGGCTCATACTCATCTTATGGGAGAGAATCAAACTTACAGGGTTGCCACCAGCAGAGTCTC
CTTGGAGGTGACATGGATATGGGCAACCCAGGAACCCTTTCGCCCACCAAACCTGGTTCCCAGT
ACTATCAGTATTCTAGCAATAATCCCCGAAGGAGGCCTCTTCACAGTAGTGCCATGGAGGTACA
GACAAAGAAAGTTCGAAAAGTTCCTCCAGGTTTGCCATCTTCAGTCTATGCTCCATCAGCAAGC
ACTGCCGACTACAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACCAGCACTTTCC
CTAGCTCCTTCTTCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGAT
GAATCAGCCTGGCTATGCAGGAATGTTGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTAC
TGTAGCCTGCATCCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGACATCAATTCCA
GTCTTCCTCCGATGTCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTAC
GCCTCCTGCCAACGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCC
CAGACTGGAGATGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCACACTAACAACA
GCTTTTCATCAAACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAGCAGGCACAGCTGT
TTGGTCTAGAAATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTG
CAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATG
CAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTC
TCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGA
CATTCACTCATGGTGGGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTC
TGCCAAACCAGGTTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCC
ACCCCAGGACCCTTACAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGC
TCTGAGATCAAATCCGATGACGAGGGTGATGAGAACCTGCAAGACACGAAATCTTCGGAGGACA
AGAAATTAGATGACGACAAGAAGGATATCAAATCAATTACTAGCAATAATGACGATGAGGACCT
GACACCAGAGCAGAAGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCGT
CTGCGGGTCCGTGACATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCTCA
AGAGTGACAAGCCCCAGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAGTCT
GGAGCAGCAAGTCCGAGAAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGGAA
GAGAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGAATGGGAGACG
CATCGAATCACATGGGACAGATGTAAAAGGGTCCAAGTTGCCACATTGCTTCATTAAAACAAGA
GACCACTTCCTTAACAGCTGTATTATCTTAAACCCACATAAACACTTCTCCTTAACCCCCATTT
TTGTAATATAAGACAAGTCTGAGTAGTTATGAATCGCAGACGCAAGAGGTTTCAGCATTCCCAA
TTATCAAAAAACAGAAAAACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGACGACTTTCTT
TAACATATCATTCAGAATGTGCAAAGCAGTATGTACAGGCTGAGACACAGCCCAGAGACTGAAC
GGCAATCTTTCCACACTGTGGAACAATGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAAAATA
TAATTAATTTGTAAGTCTGAAAAAAAAATATTTAATTTAAAAAAAATTGTAAACTTGCAATAAT
GAAAAAGTGTACTTCTGAAGAAAACTACATGAACGTTTTTGTTGGTATTCAAGTCAGCTAGTGT
TTATAATTACTGGATATTGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAAACGT
CCTGATGACAACGAAGTGATGACATTAGCCATTCCTTAGGGTAGGAGGAACAGATGGATCTTAT
AGACCTATGACAAATATATATATAAATATATATATAAATATATATTAAAAATTTAGTGACTATG
GTAAGCTTTTGTTCATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGTACTGATTAACTTT
TTTAAAAGAAAGATTTTACTGTAAATATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCCCTTT
CCCTGGTTTGTTATCGTAACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGATGAAA
TGCTGACCCTGATGTTGCTTCTCATTCATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTTGGG
AACACAGGACTTAAAAGTCACATCATGTGTAGATATTACAAGCAGCATTACCAAGACATGGCAA
AAAGAGTTTGTCTGAATTGTAATGTTGCGTTTGTGAACCTATTCTGGGATTTTCAGAGGTACAA
GGTTAGAATGCTACAATGTTACCACTGTGCCTTCCAATGTTTATATCATCGGAAACATAACATA
ATCAAAGTGGCTGTGATTTAACAAAATGATTAAAGTGTTACCTACCTGTGTAGCCGAAGTAGTG
TGCAGTGAGGCGTTTCTGAATACATGGTCAGATTTTTGGAAAAAAACAAAAACAAAAAAAACAA
GTAAAGTTCAAAAACCGTCAAATGAGAAAATTGCAAGTAGTGTGACAGAGCTGATTGATTTTGT
TGCTTTCTTGATTTTTTTTTTCAAAATGGGTTTACTAAAATGTAGATGACTTAACTGCCTCCTC
CTTCGTCTGAAAAATGCCAATATTCAATCATCATGCAGCATTATAACAAGCCTTATAAGTCCTA
AAGCATTAAGTTGCACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAATGAA
GTTTATACTTACCATATTTGATAGAAACATAGATCAAGCTATGGCACAGCGACTCATCAGATAG
CTAGCTTTGACGTCTGGGCACAATTGAACCAACTTCCATCGTGAATCTTTATAATGATTGACTT
TGGTGTATAGTGCAGTAAACAAATAGTGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTGTCTC
TAACTTGTTTCTATTTTTACAGCCACACAATTCTTGGCATGTATTAAGAAAAAAAAAAATCCCT
GTTCAAGTAGTTTTTCCACCTATCAGCACTGAGTAAATGCCATAAATCCATTGAAATGGTCTAA
ATGTTCCATCTGTTCTCCTGTTTTGCCAGTTATATAGTAATGAAATACATTTGTAAATTTTATG
CAACAAATGGCAAACGTATCATTATTTTGAAATTGTGTATGTAAAAGTTATATTTTTACATGTA
GACTCTTGTTATTATGTGTTTTAATACATTGTATCAGTTTTTGTTTTTTTTTAAAAACTGTGGT
TTAAAAAGAAGTCTCATTTAAATGAAATAGCTACAAGAATCAGAATTTTATGTTCATTTCTGAA
AATGTAAGAACAAATAAGATAGTTACCACGTGGTCATCTTTTACAAACCCATAAACATTTTGAT
TAGCTGTGTGTGTGTTGAAAAACTGTAAATATGTTCAGTAGCGATAAAACTAAAATAACTTTGA
TTTGTTGATAAGTTCCTAAAATGTGGAGGTGGATTAAAACCTTAGGAGAATAGCAGAAATCAAA
CTTCATGAAAAGTTATTTTGGGGCTTTCCTGTGAAATGTATGAACAAAGAGGCTCAGAGAAGGA
CATGGAAGACAATAATGTATACTCTCTCCTCCTCCCTGAATAATGAAAACCATGTGTATTTGTT
CCCTCCGTATGTTAAAGATTTCCTTTTAGTGGTACATTCTGCACTCATTTTGTATAGTCTACCA
AGGCGGGTATCCCTAGGAACAATATTATATAGGAAGCAGGTATACTCTGATCACATTCAGGATA
AGTGTACAGAAGAAAATACGGTGTTTACTCTTTAGGGAACTGGAAACACTCCCTGCATTGATGT
ACATTTTAAGAATGGCACTTTTGATACATGTTATCATAAAGGTGCTTAATAGAGCTGAATTAAA
GTTTTTCAAATCTGTAAACAAAGCAAAAAAGTAAATTGTAGTCATTTGATTATTTTTTAAATTG
GTGCTTTATATTTTGTTCTCACTCAGAGTAAAAGCTGCAATTTATTGTTCACCAGCTTTGATGT
ATTCATTACTCAGTAATGCAATACCTCTATTGTTGAATTCCCTTTGGAAATAAGTGAAAATTCT
AACGGCCACTGAAAGCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACATAATCTGCACCTATCCA
TATTAATTGGGTTGTATCCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTGTTT
TTTATTGTTGTTGTTTTGTAATTATCAAACCCAGGTAAGATATTGGTATCCTGCACTGGATTTT
CAAATGAAGTTCAGCAGAAGACAGTTAAGATTAAAGTACTATACAAAAATTTCAAAAGGGTCCA
TACTACGCTATCTGTATGACGACACTTAGGCTGGGGATCTCTTTCAGAAACTCGGACTTTAAAA
GCAACTTGGAGCAGTTGATCCACCTCCACATTCAAGTAATTTATGAATATGCAGAATAGGGATC
TGTTCATCTAGAAATTTTTACCATTTGTCTTCTGTGTAGCTGCAAGGAACACTAATGTTTATAC
AACTGTCAGTCCACCCAGTGGTGCAACTGGTTCTGATTCAGTCTTCCGATTCCTTTTTATTTTT
CACTTTTTCCTATTTCTGAATTTTTTTTTTTATTTGTGATCTTGATTTTGATGAGGGGTTGGGG
AGTGGGGAGGGAGTCGAACCAAGACTTGGAGTTAAGAGGATTTTCATCTTTTGCATCCAACAGG
CAGAATATGATCTGTGTCCAAAAGTGAACTTGAGTCAGGAATGAATCAATTTCAGCATAAACAA
GCACAAAAATTTAGTCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGAATATGATGAATTC
CAACACAATGGGGCACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTGTTT
TTCTTTAGAGACATGCTCTTTCTCATGGGACTTGAAGTGGACTCATCTTTGTGCAGTGCTGGTT
TTGCCATACTCATTTCAAGTATTATAGACATATGTAATGGTGAAAATATATGAACTGTGGCCTT
TTTCATTCTTGTTACTTGTGATGCAATTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGAGAT
TTACCATGTATCAGTGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCTAT
AAAATAGACTGTAGTACACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAAAATAAAAAATATA
TTTGGCTTATTTTTCGCAGGAGCAATCCTTTTATACCATGAATATTACAAAAAAATTGTCAGAT
TCTGAATATTTCTTCTTTGTAGATTTTTGGAATCATTATGAGTAAAAGTTTGTTACTTTATTTT
ACTATTTAAAAGATGTTATTTTACCATGTGTTACCAAGATGAAACTGTATGGGTAGCTTTTTTG
TTTGTTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAATT
TTTTGCGACTGTACACATAGCTGCAGCATTAAAAACTTAAAAAAATTGTTAAAAAAAAAAAAAG
GGAAAACATTTCAAAAAAAAAAAAAAAGATAAACAGTTACACCTTGTTTTCAATGTGTGGCTGA
GTGCCTCGATTTTTTCATGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTCCAAACAGGTTGTG
TGCTGGAGTTCCTTCAAGACAAAAACAAACCCAGCTTGGTCAAGGCCATTACCTGTTTCCCATC
TGTAGTTATTCGATGAAGTCATGTACATGACCGTTCTGTAGCAATAAATGTGCCATTTTTATAA
ACTGTTTCTGACACTTGTTTCATTTCATTTTGCATTGTCCATATAGCTATGATTCTCTTCTGTA
AGTAAAACGCATCTATATTTCATTTTCCAAGTGTTGGAGGTATTGACAGCTTAACAAACAAAAC
ATACAAAAAAAATCACAAAAACAAATTGAAAAGCAAAGCACATGATTGATCAAGGAAGAGATGC
CCTTAATGAAAATGGAACGGGATGCATGCAAAACAAAAAGAAAACTGTCTAGAGGATTAACTAA
TTGAAGGAATATAATTAATGTGTGTGTAACACTGAAGCTATGCATTTGAAGAGCTCTGAACTGC
ACCAGTGTTTTCGGTTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACCAGTT
GGTCGGCTGTTTGGCAGAACATTCTCAGATCTTTTCAGTCAAAAATCTAAGATGATTTATTTTG
TATCACTTTGTTAAAAGCTGAATATTGTTAACTACAGTTAATATTAACACTGTATTTATACTTT
CTCAAACTACATCCGCCCCACCACTTCTGGTTGCCTCTGTTGACTATTAATCCAGATGTAAACA
ACCAGATGTTTTTTTCTAACTTGTACAAACTGACGTGTGTCAACTATCATGGAAGGAAAAAAAT
GTACAGATTAAAATTATTCAGTGTTATGTACTGTAAGTTAATATTTTTGTAGAATGGACATCAA
TCTACTTTGCAAAATTTGGAGGCTATTTCAACATTGCACTGTAGAAATGTAAAGTAATGTATGC
AATGTAAAGGAAAGCCCGCGGTAGCTGAGCGCTTCATAACAGAATGTTCTAATCAAGTACGTGG
TATTTGGGGATGTCTCCAATATTGCTCTTGTATTCTTTCTAATTGGGTTTAGTGACTAGTTGAA
GGAAAATGTTATAACGCCATTTGGTTCACATGTGAAGTGCCCTCCATAGCCAAATGTTGGGATT
TTTTTTTTTTTCGTTTTTGGTTGGACTGTTTGCAGATATTTAAATTTTATGAAATTTCCAAAGA
TTTTGGTTGATAACCCCCTTTTACCTTCTAAATGATTTGAGATGTTCTTATGTTCTTACTGTGT
GTTTTAAATATATATAAAAGAGCCACAAGCATTTAGTCTTTTAGTATTATATTTGATCATATAA
CTACTACTGAAAAGGGGTGGGGGGGAATGTGCCTGTGCACCCCTACAGTATCTTGTGTAGTGTC
TATTAACATTGTTCTCTTTTAGAGGACCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001243234 ⟹ NP_001230163

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,321,841 (-)	NCBI
GRCh37	18	52,889,562 - 53,303,252 (-)	NCBI
HuRef	18	49,599,225 - 50,013,477 (-)	NCBI
CHM1_1	18	52,884,825 - 52,984,352 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,524,941 (-)	NCBI

Sequence:

show sequence

ATATGGGAAAATGCAACTGAAGGAATTGTTGTGAAAAAAGGGACAGCGAGTTTGAAATAAAAGT
TGTTAGAGTGGTACTGAGGAGAAAAAAGAATCCGAGACCATGTACTGCGCATACACAATCCCGG
GCATGGGCGGCAACTCTTTGATGTACTACTATAATGGGAAAGCGGTCTATGCTCCATCAGCAAG
CACTGCCGACTACAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACCAGCACTTTC
CCTAGCTCCTTCTTCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGA
TGAATCAGCCTGGCTATGCAGGAATGTTGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTA
CTGTAGCCTGCATCCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGACATCAATTCC
AGTCTTCCTCCGATGTCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTA
CGCCTCCTGCCAACGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTC
CCAGACTGGAGATGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCACACTAACAAC
AGCTTTTCATCAAACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAGCAGGCACAGCTG
TTTGGTCTAGAAATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTTACACTCTTT
GCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCAT
GCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTT
CTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAG
ACATTCACTCATGGTGGGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTT
CTGCCAAACCAGGTTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACC
CACCCCAGGACCCTTACAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAG
CTCTGAGATCAAATCCGATGACGAGGGTGATGAGAACCTGCAAGACACGAAATCTTCGGAGGAC
AAGAAATTAGATGACGACAAGAAGGATATCAAATCAATTACTAGGTCAAGATCTAGCAATAATG
ACGATGAGGACCTGACACCAGAGCAGAAGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAA
TGCCCGAGAGCGTCTGCGGGTCCGTGACATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTG
CAGCTCCACCTCAAGAGTGACAAGCCCCAGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCG
TCATCCTCAGTCTGGAGCAGCAAGTCCGAGAAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAA
AAGAAGGGAGGAAGAGAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCT
GGAATGGGAGACGCATCGAATCACATGGGACAGATGTAAAAGGGTCCAAGTTGCCACATTGCTT
CATTAAAACAAGAGACCACTTCCTTAACAGCTGTATTATCTTAAACCCACATAAACACTTCTCC
TTAACCCCCATTTTTGTAATATAAGACAAGTCTGAGTAGTTATGAATCGCAGACGCAAGAGGTT
TCAGCATTCCCAATTATCAAAAAACAGAAAAACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAG
GGACGACTTTCTTTAACATATCATTCAGAATGTGCAAAGCAGTATGTACAGGCTGAGACACAGC
CCAGAGACTGAACGGCAATCTTTCCACACTGTGGAACAATGCATTTGTGCCTAAACTTCTTTTG
GAAAAAAAAAATATAATTAATTTGTAAGTCTGAAAAAAAAATATTTAATTTAAAAAAAATTGTA
AACTTGCAATAATGAAAAAGTGTACTTCTGAAGAAAACTACATGAACGTTTTTGTTGGTATTCA
AGTCAGCTAGTGTTTATAATTACTGGATATTGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAA
AACCAGCAAACGTCCTGATGACAACGAAGTGATGACATTAGCCATTCCTTAGGGTAGGAGGAAC
AGATGGATCTTATAGACCTATGACAAATATATATATAAATATATATATAAATATATATTAAAAA
TTTAGTGACTATGGTAAGCTTTTGTTCATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGT
ACTGATTAACTTTTTTAAAAGAAAGATTTTACTGTAAATATGGATTTTTTTTTTTTTGGTCTTA
TTTCTGTCCCTTTCCCTGGTTTGTTATCGTAACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTA
GTGCAGGATGAAATGCTGACCCTGATGTTGCTTCTCATTCATAAATAAGTAGAAAGTTGTTTCT
CCAGTCTTTTGGGAACACAGGACTTAAAAGTCACATCATGTGTAGATATTACAAGCAGCATTAC
CAAGACATGGCAAAAAGAGTTTGTCTGAATTGTAATGTTGCGTTTGTGAACCTATTCTGGGATT
TTCAGAGGTACAAGGTTAGAATGCTACAATGTTACCACTGTGCCTTCCAATGTTTATATCATCG
GAAACATAACATAATCAAAGTGGCTGTGATTTAACAAAATGATTAAAGTGTTACCTACCTGTGT
AGCCGAAGTAGTGTGCAGTGAGGCGTTTCTGAATACATGGTCAGATTTTTGGAAAAAAACAAAA
ACAAAAAAAACAAGTAAAGTTCAAAAACCGTCAAATGAGAAAATTGCAAGTAGTGTGACAGAGC
TGATTGATTTTGTTGCTTTCTTGATTTTTTTTTTCAAAATGGGTTTACTAAAATGTAGATGACT
TAACTGCCTCCTCCTTCGTCTGAAAAATGCCAATATTCAATCATCATGCAGCATTATAACAAGC
CTTATAAGTCCTAAAGCATTAAGTTGCACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGC
CAGTATGAATGAAGTTTATACTTACCATATTTGATAGAAACATAGATCAAGCTATGGCACAGCG
ACTCATCAGATAGCTAGCTTTGACGTCTGGGCACAATTGAACCAACTTCCATCGTGAATCTTTA
TAATGATTGACTTTGGTGTATAGTGCAGTAAACAAATAGTGCTCCTAGTTAAGTATTTGTCAGC
ATCCTTTTGTCTCTAACTTGTTTCTATTTTTACAGCCACACAATTCTTGGCATGTATTAAGAAA
AAAAAAAATCCCTGTTCAAGTAGTTTTTCCACCTATCAGCACTGAGTAAATGCCATAAATCCAT
TGAAATGGTCTAAATGTTCCATCTGTTCTCCTGTTTTGCCAGTTATATAGTAATGAAATACATT
TGTAAATTTTATGCAACAAATGGCAAACGTATCATTATTTTGAAATTGTGTATGTAAAAGTTAT
ATTTTTACATGTAGACTCTTGTTATTATGTGTTTTAATACATTGTATCAGTTTTTGTTTTTTTT
TAAAAACTGTGGTTTAAAAAGAAGTCTCATTTAAATGAAATAGCTACAAGAATCAGAATTTTAT
GTTCATTTCTGAAAATGTAAGAACAAATAAGATAGTTACCACGTGGTCATCTTTTACAAACCCA
TAAACATTTTGATTAGCTGTGTGTGTGTTGAAAAACTGTAAATATGTTCAGTAGCGATAAAACT
AAAATAACTTTGATTTGTTGATAAGTTCCTAAAATGTGGAGGTGGATTAAAACCTTAGGAGAAT
AGCAGAAATCAAACTTCATGAAAAGTTATTTTGGGGCTTTCCTGTGAAATGTATGAACAAAGAG
GCTCAGAGAAGGACATGGAAGACAATAATGTATACTCTCTCCTCCTCCCTGAATAATGAAAACC
ATGTGTATTTGTTCCCTCCGTATGTTAAAGATTTCCTTTTAGTGGTACATTCTGCACTCATTTT
GTATAGTCTACCAAGGCGGGTATCCCTAGGAACAATATTATATAGGAAGCAGGTATACTCTGAT
CACATTCAGGATAAGTGTACAGAAGAAAATACGGTGTTTACTCTTTAGGGAACTGGAAACACTC
CCTGCATTGATGTACATTTTAAGAATGGCACTTTTGATACATGTTATCATAAAGGTGCTTAATA
GAGCTGAATTAAAGTTTTTCAAATCTGTAAACAAAGCAAAAAAGTAAATTGTAGTCATTTGATT
ATTTTTTAAATTGGTGCTTTATATTTTGTTCTCACTCAGAGTAAAAGCTGCAATTTATTGTTCA
CCAGCTTTGATGTATTCATTACTCAGTAATGCAATACCTCTATTGTTGAATTCCCTTTGGAAAT
AAGTGAAAATTCTAACGGCCACTGAAAGCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACATAAT
CTGCACCTATCCATATTAATTGGGTTGTATCCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCT
TTTTAGTGTGTTTTTTATTGTTGTTGTTTTGTAATTATCAAACCCAGGTAAGATATTGGTATCC
TGCACTGGATTTTCAAATGAAGTTCAGCAGAAGACAGTTAAGATTAAAGTACTATACAAAAATT
TCAAAAGGGTCCATACTACGCTATCTGTATGACGACACTTAGGCTGGGGATCTCTTTCAGAAAC
TCGGACTTTAAAAGCAACTTGGAGCAGTTGATCCACCTCCACATTCAAGTAATTTATGAATATG
CAGAATAGGGATCTGTTCATCTAGAAATTTTTACCATTTGTCTTCTGTGTAGCTGCAAGGAACA
CTAATGTTTATACAACTGTCAGTCCACCCAGTGGTGCAACTGGTTCTGATTCAGTCTTCCGATT
CCTTTTTATTTTTCACTTTTTCCTATTTCTGAATTTTTTTTTTTATTTGTGATCTTGATTTTGA
TGAGGGGTTGGGGAGTGGGGAGGGAGTCGAACCAAGACTTGGAGTTAAGAGGATTTTCATCTTT
TGCATCCAACAGGCAGAATATGATCTGTGTCCAAAAGTGAACTTGAGTCAGGAATGAATCAATT
TCAGCATAAACAAGCACAAAAATTTAGTCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGA
ATATGATGAATTCCAACACAATGGGGCACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTG
GTTTTGTTTGTTTTTCTTTAGAGACATGCTCTTTCTCATGGGACTTGAAGTGGACTCATCTTTG
TGCAGTGCTGGTTTTGCCATACTCATTTCAAGTATTATAGACATATGTAATGGTGAAAATATAT
GAACTGTGGCCTTTTTCATTCTTGTTACTTGTGATGCAATTAAGTGAAGATAAGAAAAAAAAAA
AAAAAGCAGAGATTTACCATGTATCAGTGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGT
GCTCTTTTGCTATAAAATAGACTGTAGTACACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAA
AATAAAAAATATATTTGGCTTATTTTTCGCAGGAGCAATCCTTTTATACCATGAATATTACAAA
AAAATTGTCAGATTCTGAATATTTCTTCTTTGTAGATTTTTGGAATCATTATGAGTAAAAGTTT
GTTACTTTATTTTACTATTTAAAAGATGTTATTTTACCATGTGTTACCAAGATGAAACTGTATG
GGTAGCTTTTTTGTTTGTTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCG
CAGCGGGGAAATTTTTTGCGACTGTACACATAGCTGCAGCATTAAAAACTTAAAAAAATTGTTA
AAAAAAAAAAAAGGGAAAACATTTCAAAAAAAAAAAAAAAGATAAACAGTTACACCTTGTTTTC
AATGTGTGGCTGAGTGCCTCGATTTTTTCATGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTC
CAAACAGGTTGTGTGCTGGAGTTCCTTCAAGACAAAAACAAACCCAGCTTGGTCAAGGCCATTA
CCTGTTTCCCATCTGTAGTTATTCGATGAAGTCATGTACATGACCGTTCTGTAGCAATAAATGT
GCCATTTTTATAAACTGTTTCTGACACTTGTTTCATTTCATTTTGCATTGTCCATATAGCTATG
ATTCTCTTCTGTAAGTAAAACGCATCTATATTTCATTTTCCAAGTGTTGGAGGTATTGACAGCT
TAACAAACAAAACATACAAAAAAAATCACAAAAACAAATTGAAAAGCAAAGCACATGATTGATC
AAGGAAGAGATGCCCTTAATGAAAATGGAACGGGATGCATGCAAAACAAAAAGAAAACTGTCTA
GAGGATTAACTAATTGAAGGAATATAATTAATGTGTGTGTAACACTGAAGCTATGCATTTGAAG
AGCTCTGAACTGCACCAGTGTTTTCGGTTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACC
TTTTGCACCAGTTGGTCGGCTGTTTGGCAGAACATTCTCAGATCTTTTCAGTCAAAAATCTAAG
ATGATTTATTTTGTATCACTTTGTTAAAAGCTGAATATTGTTAACTACAGTTAATATTAACACT
GTATTTATACTTTCTCAAACTACATCCGCCCCACCACTTCTGGTTGCCTCTGTTGACTATTAAT
CCAGATGTAAACAACCAGATGTTTTTTTCTAACTTGTACAAACTGACGTGTGTCAACTATCATG
GAAGGAAAAAAATGTACAGATTAAAATTATTCAGTGTTATGTACTGTAAGTTAATATTTTTGTA
GAATGGACATCAATCTACTTTGCAAAATTTGGAGGCTATTTCAACATTGCACTGTAGAAATGTA
AAGTAATGTATGCAATGTAAAGGAAAGCCCGCGGTAGCTGAGCGCTTCATAACAGAATGTTCTA
ATCAAGTACGTGGTATTTGGGGATGTCTCCAATATTGCTCTTGTATTCTTTCTAATTGGGTTTA
GTGACTAGTTGAAGGAAAATGTTATAACGCCATTTGGTTCACATGTGAAGTGCCCTCCATAGCC
AAATGTTGGGATTTTTTTTTTTTTCGTTTTTGGTTGGACTGTTTGCAGATATTTAAATTTTATG
AAATTTCCAAAGATTTTGGTTGATAACCCCCTTTTACCTTCTAAATGATTTGAGATGTTCTTAT
GTTCTTACTGTGTGTTTTAAATATATATAAAAGAGCCACAAGCATTTAGTCTTTTAGTATTATA
TTTGATCATATAACTACTACTGAAAAGGGGTGGGGGGGAATGTGCCTGTGCACCCCTACAGTAT
CTTGTGTAGTGTCTATTAACATTGTTCTCTTTTAGAGGACCACATTAAAAGGTACATTAATCTT
A

hide sequence

RefSeq Acc Id:

NM_001243235 ⟹ NP_001230164

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,321,841 (-)	NCBI
GRCh37	18	52,889,562 - 53,303,252 (-)	NCBI
HuRef	18	49,599,225 - 50,013,477 (-)	NCBI
CHM1_1	18	52,884,825 - 52,984,352 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,524,941 (-)	NCBI

Sequence:

show sequence

ATATGGGAAAATGCAACTGAAGGAATTGTTGTGAAAAAAGGGACAGCGAGTTTGAAATAAAAGT
TGTTAGAGTGGTACTGAGGAGAAAAAAGAATCCGAGACCATGTACTGCGCATACACAATCCCGG
GCATGGGCGGCAACTCTTTGATGTACTACTATAATGGGAAAGCGGTCTATGCTCCATCAGCAAG
CACTGCCGACTACAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACCAGCACTTTC
CCTAGCTCCTTCTTCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGA
TGAATCAGCCTGGCTATGCAGGAATGTTGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTA
CTGTAGCCTGCATCCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGACATCAATTCC
AGTCTTCCTCCGATGTCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTA
CGCCTCCTGCCAACGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTC
CCAGACTGGAGATGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCACACTAACAAC
AGCTTTTCATCAAACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAGCAGGCACAGCTG
TTTGGTCTAGAAATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTTACACTCTTT
GCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCAT
GCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTT
CTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAG
ACATTCACTCATGGTGGGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTT
CTGCCAAACCAGGTTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACC
CACCCCAGGACCCTTACAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAG
CTCTGAGATCAAATCCGATGACGAGGGTGATGAGAACCTGCAAGACACGAAATCTTCGGAGGAC
AAGAAATTAGATGACGACAAGAAGGATATCAAATCAATTACTAGCAATAATGACGATGAGGACC
TGACACCAGAGCAGAAGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCG
TCTGCGGGTCCGTGACATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCTC
AAGAGTGACAAGCCCCAGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAGTC
TGGAGCAGCAAGTCCGAGAAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGGA
AGAGAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGAATGGGAGAC
GCATCGAATCACATGGGACAGATGTAAAAGGGTCCAAGTTGCCACATTGCTTCATTAAAACAAG
AGACCACTTCCTTAACAGCTGTATTATCTTAAACCCACATAAACACTTCTCCTTAACCCCCATT
TTTGTAATATAAGACAAGTCTGAGTAGTTATGAATCGCAGACGCAAGAGGTTTCAGCATTCCCA
ATTATCAAAAAACAGAAAAACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGACGACTTTCT
TTAACATATCATTCAGAATGTGCAAAGCAGTATGTACAGGCTGAGACACAGCCCAGAGACTGAA
CGGCAATCTTTCCACACTGTGGAACAATGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAAAAT
ATAATTAATTTGTAAGTCTGAAAAAAAAATATTTAATTTAAAAAAAATTGTAAACTTGCAATAA
TGAAAAAGTGTACTTCTGAAGAAAACTACATGAACGTTTTTGTTGGTATTCAAGTCAGCTAGTG
TTTATAATTACTGGATATTGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAAACG
TCCTGATGACAACGAAGTGATGACATTAGCCATTCCTTAGGGTAGGAGGAACAGATGGATCTTA
TAGACCTATGACAAATATATATATAAATATATATATAAATATATATTAAAAATTTAGTGACTAT
GGTAAGCTTTTGTTCATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGTACTGATTAACTT
TTTTAAAAGAAAGATTTTACTGTAAATATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCCCTT
TCCCTGGTTTGTTATCGTAACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGATGAA
ATGCTGACCCTGATGTTGCTTCTCATTCATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTTGG
GAACACAGGACTTAAAAGTCACATCATGTGTAGATATTACAAGCAGCATTACCAAGACATGGCA
AAAAGAGTTTGTCTGAATTGTAATGTTGCGTTTGTGAACCTATTCTGGGATTTTCAGAGGTACA
AGGTTAGAATGCTACAATGTTACCACTGTGCCTTCCAATGTTTATATCATCGGAAACATAACAT
AATCAAAGTGGCTGTGATTTAACAAAATGATTAAAGTGTTACCTACCTGTGTAGCCGAAGTAGT
GTGCAGTGAGGCGTTTCTGAATACATGGTCAGATTTTTGGAAAAAAACAAAAACAAAAAAAACA
AGTAAAGTTCAAAAACCGTCAAATGAGAAAATTGCAAGTAGTGTGACAGAGCTGATTGATTTTG
TTGCTTTCTTGATTTTTTTTTTCAAAATGGGTTTACTAAAATGTAGATGACTTAACTGCCTCCT
CCTTCGTCTGAAAAATGCCAATATTCAATCATCATGCAGCATTATAACAAGCCTTATAAGTCCT
AAAGCATTAAGTTGCACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAATGA
AGTTTATACTTACCATATTTGATAGAAACATAGATCAAGCTATGGCACAGCGACTCATCAGATA
GCTAGCTTTGACGTCTGGGCACAATTGAACCAACTTCCATCGTGAATCTTTATAATGATTGACT
TTGGTGTATAGTGCAGTAAACAAATAGTGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTGTCT
CTAACTTGTTTCTATTTTTACAGCCACACAATTCTTGGCATGTATTAAGAAAAAAAAAAATCCC
TGTTCAAGTAGTTTTTCCACCTATCAGCACTGAGTAAATGCCATAAATCCATTGAAATGGTCTA
AATGTTCCATCTGTTCTCCTGTTTTGCCAGTTATATAGTAATGAAATACATTTGTAAATTTTAT
GCAACAAATGGCAAACGTATCATTATTTTGAAATTGTGTATGTAAAAGTTATATTTTTACATGT
AGACTCTTGTTATTATGTGTTTTAATACATTGTATCAGTTTTTGTTTTTTTTTAAAAACTGTGG
TTTAAAAAGAAGTCTCATTTAAATGAAATAGCTACAAGAATCAGAATTTTATGTTCATTTCTGA
AAATGTAAGAACAAATAAGATAGTTACCACGTGGTCATCTTTTACAAACCCATAAACATTTTGA
TTAGCTGTGTGTGTGTTGAAAAACTGTAAATATGTTCAGTAGCGATAAAACTAAAATAACTTTG
ATTTGTTGATAAGTTCCTAAAATGTGGAGGTGGATTAAAACCTTAGGAGAATAGCAGAAATCAA
ACTTCATGAAAAGTTATTTTGGGGCTTTCCTGTGAAATGTATGAACAAAGAGGCTCAGAGAAGG
ACATGGAAGACAATAATGTATACTCTCTCCTCCTCCCTGAATAATGAAAACCATGTGTATTTGT
TCCCTCCGTATGTTAAAGATTTCCTTTTAGTGGTACATTCTGCACTCATTTTGTATAGTCTACC
AAGGCGGGTATCCCTAGGAACAATATTATATAGGAAGCAGGTATACTCTGATCACATTCAGGAT
AAGTGTACAGAAGAAAATACGGTGTTTACTCTTTAGGGAACTGGAAACACTCCCTGCATTGATG
TACATTTTAAGAATGGCACTTTTGATACATGTTATCATAAAGGTGCTTAATAGAGCTGAATTAA
AGTTTTTCAAATCTGTAAACAAAGCAAAAAAGTAAATTGTAGTCATTTGATTATTTTTTAAATT
GGTGCTTTATATTTTGTTCTCACTCAGAGTAAAAGCTGCAATTTATTGTTCACCAGCTTTGATG
TATTCATTACTCAGTAATGCAATACCTCTATTGTTGAATTCCCTTTGGAAATAAGTGAAAATTC
TAACGGCCACTGAAAGCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACATAATCTGCACCTATCC
ATATTAATTGGGTTGTATCCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTGTT
TTTTATTGTTGTTGTTTTGTAATTATCAAACCCAGGTAAGATATTGGTATCCTGCACTGGATTT
TCAAATGAAGTTCAGCAGAAGACAGTTAAGATTAAAGTACTATACAAAAATTTCAAAAGGGTCC
ATACTACGCTATCTGTATGACGACACTTAGGCTGGGGATCTCTTTCAGAAACTCGGACTTTAAA
AGCAACTTGGAGCAGTTGATCCACCTCCACATTCAAGTAATTTATGAATATGCAGAATAGGGAT
CTGTTCATCTAGAAATTTTTACCATTTGTCTTCTGTGTAGCTGCAAGGAACACTAATGTTTATA
CAACTGTCAGTCCACCCAGTGGTGCAACTGGTTCTGATTCAGTCTTCCGATTCCTTTTTATTTT
TCACTTTTTCCTATTTCTGAATTTTTTTTTTTATTTGTGATCTTGATTTTGATGAGGGGTTGGG
GAGTGGGGAGGGAGTCGAACCAAGACTTGGAGTTAAGAGGATTTTCATCTTTTGCATCCAACAG
GCAGAATATGATCTGTGTCCAAAAGTGAACTTGAGTCAGGAATGAATCAATTTCAGCATAAACA
AGCACAAAAATTTAGTCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGAATATGATGAATT
CCAACACAATGGGGCACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTGTT
TTTCTTTAGAGACATGCTCTTTCTCATGGGACTTGAAGTGGACTCATCTTTGTGCAGTGCTGGT
TTTGCCATACTCATTTCAAGTATTATAGACATATGTAATGGTGAAAATATATGAACTGTGGCCT
TTTTCATTCTTGTTACTTGTGATGCAATTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGAGA
TTTACCATGTATCAGTGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCTA
TAAAATAGACTGTAGTACACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAAAATAAAAAATAT
ATTTGGCTTATTTTTCGCAGGAGCAATCCTTTTATACCATGAATATTACAAAAAAATTGTCAGA
TTCTGAATATTTCTTCTTTGTAGATTTTTGGAATCATTATGAGTAAAAGTTTGTTACTTTATTT
TACTATTTAAAAGATGTTATTTTACCATGTGTTACCAAGATGAAACTGTATGGGTAGCTTTTTT
GTTTGTTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAAT
TTTTTGCGACTGTACACATAGCTGCAGCATTAAAAACTTAAAAAAATTGTTAAAAAAAAAAAAA
GGGAAAACATTTCAAAAAAAAAAAAAAAGATAAACAGTTACACCTTGTTTTCAATGTGTGGCTG
AGTGCCTCGATTTTTTCATGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTCCAAACAGGTTGT
GTGCTGGAGTTCCTTCAAGACAAAAACAAACCCAGCTTGGTCAAGGCCATTACCTGTTTCCCAT
CTGTAGTTATTCGATGAAGTCATGTACATGACCGTTCTGTAGCAATAAATGTGCCATTTTTATA
AACTGTTTCTGACACTTGTTTCATTTCATTTTGCATTGTCCATATAGCTATGATTCTCTTCTGT
AAGTAAAACGCATCTATATTTCATTTTCCAAGTGTTGGAGGTATTGACAGCTTAACAAACAAAA
CATACAAAAAAAATCACAAAAACAAATTGAAAAGCAAAGCACATGATTGATCAAGGAAGAGATG
CCCTTAATGAAAATGGAACGGGATGCATGCAAAACAAAAAGAAAACTGTCTAGAGGATTAACTA
ATTGAAGGAATATAATTAATGTGTGTGTAACACTGAAGCTATGCATTTGAAGAGCTCTGAACTG
CACCAGTGTTTTCGGTTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACCAGT
TGGTCGGCTGTTTGGCAGAACATTCTCAGATCTTTTCAGTCAAAAATCTAAGATGATTTATTTT
GTATCACTTTGTTAAAAGCTGAATATTGTTAACTACAGTTAATATTAACACTGTATTTATACTT
TCTCAAACTACATCCGCCCCACCACTTCTGGTTGCCTCTGTTGACTATTAATCCAGATGTAAAC
AACCAGATGTTTTTTTCTAACTTGTACAAACTGACGTGTGTCAACTATCATGGAAGGAAAAAAA
TGTACAGATTAAAATTATTCAGTGTTATGTACTGTAAGTTAATATTTTTGTAGAATGGACATCA
ATCTACTTTGCAAAATTTGGAGGCTATTTCAACATTGCACTGTAGAAATGTAAAGTAATGTATG
CAATGTAAAGGAAAGCCCGCGGTAGCTGAGCGCTTCATAACAGAATGTTCTAATCAAGTACGTG
GTATTTGGGGATGTCTCCAATATTGCTCTTGTATTCTTTCTAATTGGGTTTAGTGACTAGTTGA
AGGAAAATGTTATAACGCCATTTGGTTCACATGTGAAGTGCCCTCCATAGCCAAATGTTGGGAT
TTTTTTTTTTTTCGTTTTTGGTTGGACTGTTTGCAGATATTTAAATTTTATGAAATTTCCAAAG
ATTTTGGTTGATAACCCCCTTTTACCTTCTAAATGATTTGAGATGTTCTTATGTTCTTACTGTG
TGTTTTAAATATATATAAAAGAGCCACAAGCATTTAGTCTTTTAGTATTATATTTGATCATATA
ACTACTACTGAAAAGGGGTGGGGGGGAATGTGCCTGTGCACCCCTACAGTATCTTGTGTAGTGT
CTATTAACATTGTTCTCTTTTAGAGGACCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001243236 ⟹ NP_001230165

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,302,660 (-)	NCBI
GRCh37	18	52,889,562 - 53,303,252 (-)	NCBI
HuRef	18	49,599,225 - 50,013,477 (-)	NCBI
CHM1_1	18	52,884,825 - 52,965,114 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,505,758 (-)	NCBI

Sequence:

show sequence

AGCCACAGGCCTCACAGCGGACATCTGCGGGTCTGAGTTTCATATATCCAGCATGAAGTTCCCT
CTCTCCCTCCCATTATGAATTCTGGGCTGTGGTCCTGCTTGCTCCTTGTGTGTCAGATTGAAGT
TCTGATGCTGTCAGCCATGTCTGACCAATCAGCAAACAACACCACAGGATGAAATTTAAACAAT
GCAGATGCTCAGATACAGGGCTATGTTGCCTGGACCACGAAGGGAAAGCAGAGGTCTATGCTCC
ATCAGCAAGCACTGCCGACTACAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACC
AGCACTTTCCCTAGCTCCTTCTTCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCT
CCAGTGGGATGAATCAGCCTGGCTATGCAGGAATGTTGGGCAACTCTTCTCATATTCCACAGTC
CAGCAGCTACTGTAGCCTGCATCCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGAC
ATCAATTCCAGTCTTCCTCCGATGTCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCT
CTTCCTGTACGCCTCCTGCCAACGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGC
CGGCAGCTCCCAGACTGGAGATGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCAC
ACTAACAACAGCTTTTCATCAAACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAGCAG
GCACAGCTGTTTGGTCTAGAAATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTT
ACACTCTTTGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTC
CGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCA
TTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTC
AGCCAACAGACATTCACTCATGGTGGGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGCAGC
CATTCTCTTCTGCCAAACCAGGTTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTG
ACCTGAACCCACCCCAGGACCCTTACAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGTCTC
CTCTGGCAGCTCTGAGATCAAATCCGATGACGAGGGTGATGAGAACCTGCAAGACACGAAATCT
TCGGAGGACAAGAAATTAGATGACGACAAGAAGGATATCAAATCAATTACTAGCAATAATGACG
ATGAGGACCTGACACCAGAGCAGAAGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGC
CCGAGAGCGTCTGCGGGTCCGTGACATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAG
CTCCACCTCAAGAGTGACAAGCCCCAGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCA
TCCTCAGTCTGGAGCAGCAAGTCCGAGAAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAG
AAGGGAGGAAGAGAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGA
ATGGGAGACGCATCGAATCACATGGGACAGATGTAAAAGGGTCCAAGTTGCCACATTGCTTCAT
TAAAACAAGAGACCACTTCCTTAACAGCTGTATTATCTTAAACCCACATAAACACTTCTCCTTA
ACCCCCATTTTTGTAATATAAGACAAGTCTGAGTAGTTATGAATCGCAGACGCAAGAGGTTTCA
GCATTCCCAATTATCAAAAAACAGAAAAACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGA
CGACTTTCTTTAACATATCATTCAGAATGTGCAAAGCAGTATGTACAGGCTGAGACACAGCCCA
GAGACTGAACGGCAATCTTTCCACACTGTGGAACAATGCATTTGTGCCTAAACTTCTTTTGGAA
AAAAAAAATATAATTAATTTGTAAGTCTGAAAAAAAAATATTTAATTTAAAAAAAATTGTAAAC
TTGCAATAATGAAAAAGTGTACTTCTGAAGAAAACTACATGAACGTTTTTGTTGGTATTCAAGT
CAGCTAGTGTTTATAATTACTGGATATTGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAAAAC
CAGCAAACGTCCTGATGACAACGAAGTGATGACATTAGCCATTCCTTAGGGTAGGAGGAACAGA
TGGATCTTATAGACCTATGACAAATATATATATAAATATATATATAAATATATATTAAAAATTT
AGTGACTATGGTAAGCTTTTGTTCATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGTACT
GATTAACTTTTTTAAAAGAAAGATTTTACTGTAAATATGGATTTTTTTTTTTTTGGTCTTATTT
CTGTCCCTTTCCCTGGTTTGTTATCGTAACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTG
CAGGATGAAATGCTGACCCTGATGTTGCTTCTCATTCATAAATAAGTAGAAAGTTGTTTCTCCA
GTCTTTTGGGAACACAGGACTTAAAAGTCACATCATGTGTAGATATTACAAGCAGCATTACCAA
GACATGGCAAAAAGAGTTTGTCTGAATTGTAATGTTGCGTTTGTGAACCTATTCTGGGATTTTC
AGAGGTACAAGGTTAGAATGCTACAATGTTACCACTGTGCCTTCCAATGTTTATATCATCGGAA
ACATAACATAATCAAAGTGGCTGTGATTTAACAAAATGATTAAAGTGTTACCTACCTGTGTAGC
CGAAGTAGTGTGCAGTGAGGCGTTTCTGAATACATGGTCAGATTTTTGGAAAAAAACAAAAACA
AAAAAAACAAGTAAAGTTCAAAAACCGTCAAATGAGAAAATTGCAAGTAGTGTGACAGAGCTGA
TTGATTTTGTTGCTTTCTTGATTTTTTTTTTCAAAATGGGTTTACTAAAATGTAGATGACTTAA
CTGCCTCCTCCTTCGTCTGAAAAATGCCAATATTCAATCATCATGCAGCATTATAACAAGCCTT
ATAAGTCCTAAAGCATTAAGTTGCACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAG
TATGAATGAAGTTTATACTTACCATATTTGATAGAAACATAGATCAAGCTATGGCACAGCGACT
CATCAGATAGCTAGCTTTGACGTCTGGGCACAATTGAACCAACTTCCATCGTGAATCTTTATAA
TGATTGACTTTGGTGTATAGTGCAGTAAACAAATAGTGCTCCTAGTTAAGTATTTGTCAGCATC
CTTTTGTCTCTAACTTGTTTCTATTTTTACAGCCACACAATTCTTGGCATGTATTAAGAAAAAA
AAAAATCCCTGTTCAAGTAGTTTTTCCACCTATCAGCACTGAGTAAATGCCATAAATCCATTGA
AATGGTCTAAATGTTCCATCTGTTCTCCTGTTTTGCCAGTTATATAGTAATGAAATACATTTGT
AAATTTTATGCAACAAATGGCAAACGTATCATTATTTTGAAATTGTGTATGTAAAAGTTATATT
TTTACATGTAGACTCTTGTTATTATGTGTTTTAATACATTGTATCAGTTTTTGTTTTTTTTTAA
AAACTGTGGTTTAAAAAGAAGTCTCATTTAAATGAAATAGCTACAAGAATCAGAATTTTATGTT
CATTTCTGAAAATGTAAGAACAAATAAGATAGTTACCACGTGGTCATCTTTTACAAACCCATAA
ACATTTTGATTAGCTGTGTGTGTGTTGAAAAACTGTAAATATGTTCAGTAGCGATAAAACTAAA
ATAACTTTGATTTGTTGATAAGTTCCTAAAATGTGGAGGTGGATTAAAACCTTAGGAGAATAGC
AGAAATCAAACTTCATGAAAAGTTATTTTGGGGCTTTCCTGTGAAATGTATGAACAAAGAGGCT
CAGAGAAGGACATGGAAGACAATAATGTATACTCTCTCCTCCTCCCTGAATAATGAAAACCATG
TGTATTTGTTCCCTCCGTATGTTAAAGATTTCCTTTTAGTGGTACATTCTGCACTCATTTTGTA
TAGTCTACCAAGGCGGGTATCCCTAGGAACAATATTATATAGGAAGCAGGTATACTCTGATCAC
ATTCAGGATAAGTGTACAGAAGAAAATACGGTGTTTACTCTTTAGGGAACTGGAAACACTCCCT
GCATTGATGTACATTTTAAGAATGGCACTTTTGATACATGTTATCATAAAGGTGCTTAATAGAG
CTGAATTAAAGTTTTTCAAATCTGTAAACAAAGCAAAAAAGTAAATTGTAGTCATTTGATTATT
TTTTAAATTGGTGCTTTATATTTTGTTCTCACTCAGAGTAAAAGCTGCAATTTATTGTTCACCA
GCTTTGATGTATTCATTACTCAGTAATGCAATACCTCTATTGTTGAATTCCCTTTGGAAATAAG
TGAAAATTCTAACGGCCACTGAAAGCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACATAATCTG
CACCTATCCATATTAATTGGGTTGTATCCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTT
TAGTGTGTTTTTTATTGTTGTTGTTTTGTAATTATCAAACCCAGGTAAGATATTGGTATCCTGC
ACTGGATTTTCAAATGAAGTTCAGCAGAAGACAGTTAAGATTAAAGTACTATACAAAAATTTCA
AAAGGGTCCATACTACGCTATCTGTATGACGACACTTAGGCTGGGGATCTCTTTCAGAAACTCG
GACTTTAAAAGCAACTTGGAGCAGTTGATCCACCTCCACATTCAAGTAATTTATGAATATGCAG
AATAGGGATCTGTTCATCTAGAAATTTTTACCATTTGTCTTCTGTGTAGCTGCAAGGAACACTA
ATGTTTATACAACTGTCAGTCCACCCAGTGGTGCAACTGGTTCTGATTCAGTCTTCCGATTCCT
TTTTATTTTTCACTTTTTCCTATTTCTGAATTTTTTTTTTTATTTGTGATCTTGATTTTGATGA
GGGGTTGGGGAGTGGGGAGGGAGTCGAACCAAGACTTGGAGTTAAGAGGATTTTCATCTTTTGC
ATCCAACAGGCAGAATATGATCTGTGTCCAAAAGTGAACTTGAGTCAGGAATGAATCAATTTCA
GCATAAACAAGCACAAAAATTTAGTCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGAATA
TGATGAATTCCAACACAATGGGGCACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTT
TTGTTTGTTTTTCTTTAGAGACATGCTCTTTCTCATGGGACTTGAAGTGGACTCATCTTTGTGC
AGTGCTGGTTTTGCCATACTCATTTCAAGTATTATAGACATATGTAATGGTGAAAATATATGAA
CTGTGGCCTTTTTCATTCTTGTTACTTGTGATGCAATTAAGTGAAGATAAGAAAAAAAAAAAAA
AAGCAGAGATTTACCATGTATCAGTGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCT
CTTTTGCTATAAAATAGACTGTAGTACACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAAAAT
AAAAAATATATTTGGCTTATTTTTCGCAGGAGCAATCCTTTTATACCATGAATATTACAAAAAA
ATTGTCAGATTCTGAATATTTCTTCTTTGTAGATTTTTGGAATCATTATGAGTAAAAGTTTGTT
ACTTTATTTTACTATTTAAAAGATGTTATTTTACCATGTGTTACCAAGATGAAACTGTATGGGT
AGCTTTTTTGTTTGTTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAG
CGGGGAAATTTTTTGCGACTGTACACATAGCTGCAGCATTAAAAACTTAAAAAAATTGTTAAAA
AAAAAAAAAGGGAAAACATTTCAAAAAAAAAAAAAAAGATAAACAGTTACACCTTGTTTTCAAT
GTGTGGCTGAGTGCCTCGATTTTTTCATGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTCCAA
ACAGGTTGTGTGCTGGAGTTCCTTCAAGACAAAAACAAACCCAGCTTGGTCAAGGCCATTACCT
GTTTCCCATCTGTAGTTATTCGATGAAGTCATGTACATGACCGTTCTGTAGCAATAAATGTGCC
ATTTTTATAAACTGTTTCTGACACTTGTTTCATTTCATTTTGCATTGTCCATATAGCTATGATT
CTCTTCTGTAAGTAAAACGCATCTATATTTCATTTTCCAAGTGTTGGAGGTATTGACAGCTTAA
CAAACAAAACATACAAAAAAAATCACAAAAACAAATTGAAAAGCAAAGCACATGATTGATCAAG
GAAGAGATGCCCTTAATGAAAATGGAACGGGATGCATGCAAAACAAAAAGAAAACTGTCTAGAG
GATTAACTAATTGAAGGAATATAATTAATGTGTGTGTAACACTGAAGCTATGCATTTGAAGAGC
TCTGAACTGCACCAGTGTTTTCGGTTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTT
TGCACCAGTTGGTCGGCTGTTTGGCAGAACATTCTCAGATCTTTTCAGTCAAAAATCTAAGATG
ATTTATTTTGTATCACTTTGTTAAAAGCTGAATATTGTTAACTACAGTTAATATTAACACTGTA
TTTATACTTTCTCAAACTACATCCGCCCCACCACTTCTGGTTGCCTCTGTTGACTATTAATCCA
GATGTAAACAACCAGATGTTTTTTTCTAACTTGTACAAACTGACGTGTGTCAACTATCATGGAA
GGAAAAAAATGTACAGATTAAAATTATTCAGTGTTATGTACTGTAAGTTAATATTTTTGTAGAA
TGGACATCAATCTACTTTGCAAAATTTGGAGGCTATTTCAACATTGCACTGTAGAAATGTAAAG
TAATGTATGCAATGTAAAGGAAAGCCCGCGGTAGCTGAGCGCTTCATAACAGAATGTTCTAATC
AAGTACGTGGTATTTGGGGATGTCTCCAATATTGCTCTTGTATTCTTTCTAATTGGGTTTAGTG
ACTAGTTGAAGGAAAATGTTATAACGCCATTTGGTTCACATGTGAAGTGCCCTCCATAGCCAAA
TGTTGGGATTTTTTTTTTTTTCGTTTTTGGTTGGACTGTTTGCAGATATTTAAATTTTATGAAA
TTTCCAAAGATTTTGGTTGATAACCCCCTTTTACCTTCTAAATGATTTGAGATGTTCTTATGTT
CTTACTGTGTGTTTTAAATATATATAAAAGAGCCACAAGCATTTAGTCTTTTAGTATTATATTT
GATCATATAACTACTACTGAAAAGGGGTGGGGGGGAATGTGCCTGTGCACCCCTACAGTATCTT
GTGTAGTGTCTATTAACATTGTTCTCTTTTAGAGGACCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001306207 ⟹ NP_001293136

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,331 - 55,586,119 (-)	NCBI
CHM1_1	18	52,884,825 - 53,248,599 (-)	NCBI
T2T-CHM13v2.0	18	55,425,420 - 55,789,199 (-)	NCBI

Sequence:

show sequence

CTCTTCTAGACCTTCTTTTGGAGAAATGGCTTTCGGAAGTTTTGCCAGGAAACGTAGCCCTAGG
CAGGCAGCTTTGCAGCCCCCTTTCTGCTTGTTGCACTTTCTCCATTCGTTCCTTTGCTTTTTGC
AGGCTCTGACTCAGGGAAGGTGTGCATTATCCACTAGATACGTCGAAGAAGAGGGAAACCAATT
AGGGTCGAAATAAATGCTGGAGAGAGAGGGAGTGAAAGAGAGAGTGAGAGTGAGAGAGAGAGAG
AGTCTTGCTTCAAATTGCTCTCCTGTTAGAGACGAAATGAGAATTTAGTGCAGATGTTTTCACC
TCCTGTGAGCAGTGGGAAAAATGGACCAACTTCTTTGGCAAGTGGACATTTTACTGGCTCAAAT
GTAGAAGACAGAAGTAGCTCAGGGTCCTGGGGGAATGGAGGACATCCAAGCCCGTCCAGGAACT
ATGGAGATGGGACTCCCTATGACCACATGACCAGCAGGGACCTTGGGTCACATGACAATCTCTC
TCCACCTTTTGTCAATTCCAGAATACAAAGTAAAACAGAAAGGGGCTCATACTCATCTTATGGG
AGAGAATCAAACTTACAGGGTTGCCACCAGCAGAGTCTCCTTGGAGGTGACATGGATATGGGCA
ACCCAGGAACCCTTTCGCCCACCAAACCTGGTTCCCAGTACTATCAGTATTCTAGCAATAATCC
CCGAAGGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGACAAAGAAAGTTCGAAAAGTTCCT
CCAGGTTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCACTGCCGACTACAATAGGGACTCGC
CAGGCTATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCTAGCTCCTTCTTCATGCAAGATGG
CCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTGGCTATGCAGGAATG
TTGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCATCCACATGAACGTT
TGAGCTATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCGATGTCCACTTTCCA
TCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCCAACGGGACAGACAGT
ATAATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCAGACTGGAGATGCTCTGGGGAAAG
CACTTGCTTCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATCAAACCCTTCAACTCC
TGTTGGCTCTCCTCCATCTCTCTCAGCAGGCACAGCTGTTTGGTCTAGAAATGGAGGACAGGCC
TCATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCGAATTGAAGATCGTTTAG
AAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCC
TGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTG
GGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTGGGGACCCATC
GTGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTGCCAAACCAGGTTCCGGTTCCACA
GCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCACCCCAGGACCCTTACAGAGGCATG
CCACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTCTGAGATCAAATCCGATGACGAGG
GTGATGAGAACCTGCAAGACACGAAATCTTCGGAGGACAAGAAATTAGATGACGACAAGAAGGA
TATCAAATCAATTACTAGCAATAATGACGATGAGGACCTGACACCAGAGCAGAAGGCAGAGCGT
GAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCGTCTGCGGGTCCGTGACATCAACGAGG
CTTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCTCAAGAGTGACAAGCCCCAGACCAAGCT
CCTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAGTCTGGAGCAGCAAGTCCGAGAAAGGAAT
CTGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGGAAGAGAAGGTGTCCTCAGAGCCTCCCC
CTCTCTCCTTGGCCGGCCCACACCCTGGAATGGGAGACGCATCGAATCACATGGGACAGATGTA
AAAGGGTCCAAGTTGCCACATTGCTTCATTAAAACAAGAGACCACTTCCTTAACAGCTGTATTA
TCTTAAACCCACATAAACACTTCTCCTTAACCCCCATTTTTGTAATATAAGACAAGTCTGAGTA
GTTATGAATCGCAGACGCAAGAGGTTTCAGCATTCCCAATTATCAAAAAACAGAAAAACAAAAA
AAAGAAAGAAAAAAGTGCAACTTGAGGGACGACTTTCTTTAACATATCATTCAGAATGTGCAAA
GCAGTATGTACAGGCTGAGACACAGCCCAGAGACTGAACGGCAATCTTTCCACACTGTGGAACA
ATGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAAAATATAATTAATTTGTAAGTCTGAAAAAA
AAATATTTAATTTAAAAAAAATTGTAAACTTGCAATAATGAAAAAGTGTACTTCTGAAGAAAAC
TACATGAACGTTTTTGTTGGTATTCAAGTCAGCTAGTGTTTATAATTACTGGATATTGAATTAG
GGGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAAACGTCCTGATGACAACGAAGTGATGACAT
TAGCCATTCCTTAGGGTAGGAGGAACAGATGGATCTTATAGACCTATGACAAATATATATATAA
ATATATATATAAATATATATTAAAAATTTAGTGACTATGGTAAGCTTTTGTTCATTTGTTTCAG
ACTTTTTTCTCCTGTAAAAAAATAGTACTGATTAACTTTTTTAAAAGAAAGATTTTACTGTAAA
TATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCCCTTTCCCTGGTTTGTTATCGTAACCTGTA
GTGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGATGAAATGCTGACCCTGATGTTGCTTCTCAT
TCATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTTGGGAACACAGGACTTAAAAGTCACATCA
TGTGTAGATATTACAAGCAGCATTACCAAGACATGGCAAAAAGAGTTTGTCTGAATTGTAATGT
TGCGTTTGTGAACCTATTCTGGGATTTTCAGAGGTACAAGGTTAGAATGCTACAATGTTACCAC
TGTGCCTTCCAATGTTTATATCATCGGAAACATAACATAATCAAAGTGGCTGTGATTTAACAAA
ATGATTAAAGTGTTACCTACCTGTGTAGCCGAAGTAGTGTGCAGTGAGGCGTTTCTGAATACAT
GGTCAGATTTTTGGAAAAAAACAAAAACAAAAAAAACAAGTAAAGTTCAAAAACCGTCAAATGA
GAAAATTGCAAGTAGTGTGACAGAGCTGATTGATTTTGTTGCTTTCTTGATTTTTTTTTTCAAA
ATGGGTTTACTAAAATGTAGATGACTTAACTGCCTCCTCCTTCGTCTGAAAAATGCCAATATTC
AATCATCATGCAGCATTATAACAAGCCTTATAAGTCCTAAAGCATTAAGTTGCACTTTTTTGAG
GAGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAATGAAGTTTATACTTACCATATTTGATAGA
AACATAGATCAAGCTATGGCACAGCGACTCATCAGATAGCTAGCTTTGACGTCTGGGCACAATT
GAACCAACTTCCATCGTGAATCTTTATAATGATTGACTTTGGTGTATAGTGCAGTAAACAAATA
GTGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTGTCTCTAACTTGTTTCTATTTTTACAGCCA
CACAATTCTTGGCATGTATTAAGAAAAAAAAAAATCCCTGTTCAAGTAGTTTTTCCACCTATCA
GCACTGAGTAAATGCCATAAATCCATTGAAATGGTCTAAATGTTCCATCTGTTCTCCTGTTTTG
CCAGTTATATAGTAATGAAATACATTTGTAAATTTTATGCAACAAATGGCAAACGTATCATTAT
TTTGAAATTGTGTATGTAAAAGTTATATTTTTACATGTAGACTCTTGTTATTATGTGTTTTAAT
ACATTGTATCAGTTTTTGTTTTTTTTTAAAAACTGTGGTTTAAAAAGAAGTCTCATTTAAATGA
AATAGCTACAAGAATCAGAATTTTATGTTCATTTCTGAAAATGTAAGAACAAATAAGATAGTTA
CCACGTGGTCATCTTTTACAAACCCATAAACATTTTGATTAGCTGTGTGTGTGTTGAAAAACTG
TAAATATGTTCAGTAGCGATAAAACTAAAATAACTTTGATTTGTTGATAAGTTCCTAAAATGTG
GAGGTGGATTAAAACCTTAGGAGAATAGCAGAAATCAAACTTCATGAAAAGTTATTTTGGGGCT
TTCCTGTGAAATGTATGAACAAAGAGGCTCAGAGAAGGACATGGAAGACAATAATGTATACTCT
CTCCTCCTCCCTGAATAATGAAAACCATGTGTATTTGTTCCCTCCGTATGTTAAAGATTTCCTT
TTAGTGGTACATTCTGCACTCATTTTGTATAGTCTACCAAGGCGGGTATCCCTAGGAACAATAT
TATATAGGAAGCAGGTATACTCTGATCACATTCAGGATAAGTGTACAGAAGAAAATACGGTGTT
TACTCTTTAGGGAACTGGAAACACTCCCTGCATTGATGTACATTTTAAGAATGGCACTTTTGAT
ACATGTTATCATAAAGGTGCTTAATAGAGCTGAATTAAAGTTTTTCAAATCTGTAAACAAAGCA
AAAAAGTAAATTGTAGTCATTTGATTATTTTTTAAATTGGTGCTTTATATTTTGTTCTCACTCA
GAGTAAAAGCTGCAATTTATTGTTCACCAGCTTTGATGTATTCATTACTCAGTAATGCAATACC
TCTATTGTTGAATTCCCTTTGGAAATAAGTGAAAATTCTAACGGCCACTGAAAGCTGCTCGCTA
GGTTTTGCTTGGTGGAGAAACATAATCTGCACCTATCCATATTAATTGGGTTGTATCCCCATTA
AAAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTGTTTTTTATTGTTGTTGTTTTGTAATTAT
CAAACCCAGGTAAGATATTGGTATCCTGCACTGGATTTTCAAATGAAGTTCAGCAGAAGACAGT
TAAGATTAAAGTACTATACAAAAATTTCAAAAGGGTCCATACTACGCTATCTGTATGACGACAC
TTAGGCTGGGGATCTCTTTCAGAAACTCGGACTTTAAAAGCAACTTGGAGCAGTTGATCCACCT
CCACATTCAAGTAATTTATGAATATGCAGAATAGGGATCTGTTCATCTAGAAATTTTTACCATT
TGTCTTCTGTGTAGCTGCAAGGAACACTAATGTTTATACAACTGTCAGTCCACCCAGTGGTGCA
ACTGGTTCTGATTCAGTCTTCCGATTCCTTTTTATTTTTCACTTTTTCCTATTTCTGAATTTTT
TTTTTTATTTGTGATCTTGATTTTGATGAGGGGTTGGGGAGTGGGGAGGGAGTCGAACCAAGAC
TTGGAGTTAAGAGGATTTTCATCTTTTGCATCCAACAGGCAGAATATGATCTGTGTCCAAAAGT
GAACTTGAGTCAGGAATGAATCAATTTCAGCATAAACAAGCACAAAAATTTAGTCTGCTGGCTG
ACTGGAAGCAAAAAAGTCAAGATGGAATATGATGAATTCCAACACAATGGGGCACCAAGGCCTT
TAGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTGTTTTTCTTTAGAGACATGCTCTTTCTCA
TGGGACTTGAAGTGGACTCATCTTTGTGCAGTGCTGGTTTTGCCATACTCATTTCAAGTATTAT
AGACATATGTAATGGTGAAAATATATGAACTGTGGCCTTTTTCATTCTTGTTACTTGTGATGCA
ATTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGAGATTTACCATGTATCAGTGCCTGGCTTT
TTGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCTATAAAATAGACTGTAGTACACCCTAGT
AGGAAAAAAAAAAAACTAAATTTAAAAATAAAAAATATATTTGGCTTATTTTTCGCAGGAGCAA
TCCTTTTATACCATGAATATTACAAAAAAATTGTCAGATTCTGAATATTTCTTCTTTGTAGATT
TTTGGAATCATTATGAGTAAAAGTTTGTTACTTTATTTTACTATTTAAAAGATGTTATTTTACC
ATGTGTTACCAAGATGAAACTGTATGGGTAGCTTTTTTGTTTGTTTTTTGTTTTGTTTTTGTTT
TTGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAATTTTTTGCGACTGTACACATAGCTGCA
GCATTAAAAACTTAAAAAAATTGTTAAAAAAAAAAAAAGGGAAAACATTTCAAAAAAAAAAAAA
AAGATAAACAGTTACACCTTGTTTTCAATGTGTGGCTGAGTGCCTCGATTTTTTCATGTTTTTG
GTGTATTTCTGATTTGTAGAAGTGTCCAAACAGGTTGTGTGCTGGAGTTCCTTCAAGACAAAAA
CAAACCCAGCTTGGTCAAGGCCATTACCTGTTTCCCATCTGTAGTTATTCGATGAAGTCATGTA
CATGACCGTTCTGTAGCAATAAATGTGCCATTTTTATAAACTGTTTCTGACACTTGTTTCATTT
CATTTTGCATTGTCCATATAGCTATGATTCTCTTCTGTAAGTAAAACGCATCTATATTTCATTT
TCCAAGTGTTGGAGGTATTGACAGCTTAACAAACAAAACATACAAAAAAAATCACAAAAACAAA
TTGAAAAGCAAAGCACATGATTGATCAAGGAAGAGATGCCCTTAATGAAAATGGAACGGGATGC
ATGCAAAACAAAAAGAAAACTGTCTAGAGGATTAACTAATTGAAGGAATATAATTAATGTGTGT
GTAACACTGAAGCTATGCATTTGAAGAGCTCTGAACTGCACCAGTGTTTTCGGTTGTGCTGCAG
GTTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACCAGTTGGTCGGCTGTTTGGCAGAACATTCT
CAGATCTTTTCAGTCAAAAATCTAAGATGATTTATTTTGTATCACTTTGTTAAAAGCTGAATAT
TGTTAACTACAGTTAATATTAACACTGTATTTATACTTTCTCAAACTACATCCGCCCCACCACT
TCTGGTTGCCTCTGTTGACTATTAATCCAGATGTAAACAACCAGATGTTTTTTTCTAACTTGTA
CAAACTGACGTGTGTCAACTATCATGGAAGGAAAAAAATGTACAGATTAAAATTATTCAGTGTT
ATGTACTGTAAGTTAATATTTTTGTAGAATGGACATCAATCTACTTTGCAAAATTTGGAGGCTA
TTTCAACATTGCACTGTAGAAATGTAAAGTAATGTATGCAATGTAAAGGAAAGCCCGCGGTAGC
TGAGCGCTTCATAACAGAATGTTCTAATCAAGTACGTGGTATTTGGGGATGTCTCCAATATTGC
TCTTGTATTCTTTCTAATTGGGTTTAGTGACTAGTTGAAGGAAAATGTTATAACGCCATTTGGT
TCACATGTGAAGTGCCCTCCATAGCCAAATGTTGGGATTTTTTTTTTTTTCGTTTTTGGTTGGA
CTGTTTGCAGATATTTAAATTTTATGAAATTTCCAAAGATTTTGGTTGATAACCCCCTTTTACC
TTCTAAATGATTTGAGATGTTCTTATGTTCTTACTGTGTGTTTTAAATATATATAAAAGAGCCA
CAAGCATTT

hide sequence

RefSeq Acc Id:

NM_001306208 ⟹ NP_001293137

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,331 - 55,403,995 (-)	NCBI
CHM1_1	18	52,884,825 - 53,066,472 (-)	NCBI
T2T-CHM13v2.0	18	55,425,420 - 55,607,075 (-)	NCBI

Sequence:

show sequence

GACTCAGAATTTTGAATAGTTTCTTTGCTAAATTCACCATCTGGAGAGCCTGTGATTGATTAGT
TTTGGCCTCACTATTAAGTGTCAATATAATCAATGGGAATTACTAGGCTAGGGTCATTACATAG
ATAATTTGCCTGCTGTGTAAATAAAAATGAAATTGTTTAAATTTTGTGCAAGAGAAAGTGAAAA
TAAGGAGTTACGATTTGTTTGTTAGAGAAAGTGGAGGCCATTGGAATGACAGTTTTTGGAAGTG
TGGAGCAGTTTGGCTAAGAATAGGAATGAAGGATATTTTTTTCCAGTTTATCATAGCCAGAGTG
AGGAAGTGTTATTCCCTCTCTTGCTTGCATACATTGCCAGTAGTGCCTACTTTACGTAAAACAG
AAAGGGGCTCATACTCATCTTATGGGAGAGAATCAAACTTACAGGGTTGCCACCAGAGTCTCCT
TGGAGGTGACATGGATATGGGCAACCCAGGAACCCTTTCGCCCACCAAACCTGGTTCCCAGTAC
TATCAGTATTCTAGCAATAATCCCCGAAGGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGA
CAAAGAAAGTTCGAAAAGTTCCTCCAGGTTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCAC
TGCCGACTACAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCT
AGCTCCTTCTTCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGA
ATCAGCCTGGCTATGCAGGAATGTTGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTACTG
TAGCCTGCATCCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGACATCAATTCCAGT
CTTCCTCCGATGTCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGC
CTCCTGCCAACGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCA
GACTGGAGATGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCACACTAACAACAGC
TTTTCATCAAACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAGCAGGCACAGCTGTTT
GGTCTAGAAATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCA
AAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCA
GTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTC
ATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACA
TTCACTCATGGTGGGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTG
CCAAACCAGGTTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCAC
CCCAGGACCCTTACAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTC
TGAGATCAAATCCGATGACGAGGGTGATGAGAACCTGCAAGACACGAAATCTTCGGAGGACAAG
AAATTAGATGACGACAAGAAGGATATCAAATCAATTACTAGCAATAATGACGATGAGGACCTGA
CACCAGAGCAGAAGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCGTCT
GCGGGTCCGTGACATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCTCAAG
AGTGACAAGCCCCAGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAGTCTGG
AGCAGCAAGTCCGAGAAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGGAAGA
GAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGAATGGGAGACGCA
TCGAATCACATGGGACAGATGTAAAAGGGTCCAAGTTGCCACATTGCTTCATTAAAACAAGAGA
CCACTTCCTTAACAGCTGTATTATCTTAAACCCACATAAACACTTCTCCTTAACCCCCATTTTT
GTAATATAAGACAAGTCTGAGTAGTTATGAATCGCAGACGCAAGAGGTTTCAGCATTCCCAATT
ATCAAAAAACAGAAAAACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGACGACTTTCTTTA
ACATATCATTCAGAATGTGCAAAGCAGTATGTACAGGCTGAGACACAGCCCAGAGACTGAACGG
CAATCTTTCCACACTGTGGAACAATGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAAAATATA
ATTAATTTGTAAGTCTGAAAAAAAAATATTTAATTTAAAAAAAATTGTAAACTTGCAATAATGA
AAAAGTGTACTTCTGAAGAAAACTACATGAACGTTTTTGTTGGTATTCAAGTCAGCTAGTGTTT
ATAATTACTGGATATTGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAAACGTCC
TGATGACAACGAAGTGATGACATTAGCCATTCCTTAGGGTAGGAGGAACAGATGGATCTTATAG
ACCTATGACAAATATATATATAAATATATATATAAATATATATTAAAAATTTAGTGACTATGGT
AAGCTTTTGTTCATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGTACTGATTAACTTTTT
TAAAAGAAAGATTTTACTGTAAATATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCCCTTTCC
CTGGTTTGTTATCGTAACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGATGAAATG
CTGACCCTGATGTTGCTTCTCATTCATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTTGGGAA
CACAGGACTTAAAAGTCACATCATGTGTAGATATTACAAGCAGCATTACCAAGACATGGCAAAA
AGAGTTTGTCTGAATTGTAATGTTGCGTTTGTGAACCTATTCTGGGATTTTCAGAGGTACAAGG
TTAGAATGCTACAATGTTACCACTGTGCCTTCCAATGTTTATATCATCGGAAACATAACATAAT
CAAAGTGGCTGTGATTTAACAAAATGATTAAAGTGTTACCTACCTGTGTAGCCGAAGTAGTGTG
CAGTGAGGCGTTTCTGAATACATGGTCAGATTTTTGGAAAAAAACAAAAACAAAAAAAACAAGT
AAAGTTCAAAAACCGTCAAATGAGAAAATTGCAAGTAGTGTGACAGAGCTGATTGATTTTGTTG
CTTTCTTGATTTTTTTTTTCAAAATGGGTTTACTAAAATGTAGATGACTTAACTGCCTCCTCCT
TCGTCTGAAAAATGCCAATATTCAATCATCATGCAGCATTATAACAAGCCTTATAAGTCCTAAA
GCATTAAGTTGCACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAATGAAGT
TTATACTTACCATATTTGATAGAAACATAGATCAAGCTATGGCACAGCGACTCATCAGATAGCT
AGCTTTGACGTCTGGGCACAATTGAACCAACTTCCATCGTGAATCTTTATAATGATTGACTTTG
GTGTATAGTGCAGTAAACAAATAGTGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTGTCTCTA
ACTTGTTTCTATTTTTACAGCCACACAATTCTTGGCATGTATTAAGAAAAAAAAAAATCCCTGT
TCAAGTAGTTTTTCCACCTATCAGCACTGAGTAAATGCCATAAATCCATTGAAATGGTCTAAAT
GTTCCATCTGTTCTCCTGTTTTGCCAGTTATATAGTAATGAAATACATTTGTAAATTTTATGCA
ACAAATGGCAAACGTATCATTATTTTGAAATTGTGTATGTAAAAGTTATATTTTTACATGTAGA
CTCTTGTTATTATGTGTTTTAATACATTGTATCAGTTTTTGTTTTTTTTTAAAAACTGTGGTTT
AAAAAGAAGTCTCATTTAAATGAAATAGCTACAAGAATCAGAATTTTATGTTCATTTCTGAAAA
TGTAAGAACAAATAAGATAGTTACCACGTGGTCATCTTTTACAAACCCATAAACATTTTGATTA
GCTGTGTGTGTGTTGAAAAACTGTAAATATGTTCAGTAGCGATAAAACTAAAATAACTTTGATT
TGTTGATAAGTTCCTAAAATGTGGAGGTGGATTAAAACCTTAGGAGAATAGCAGAAATCAAACT
TCATGAAAAGTTATTTTGGGGCTTTCCTGTGAAATGTATGAACAAAGAGGCTCAGAGAAGGACA
TGGAAGACAATAATGTATACTCTCTCCTCCTCCCTGAATAATGAAAACCATGTGTATTTGTTCC
CTCCGTATGTTAAAGATTTCCTTTTAGTGGTACATTCTGCACTCATTTTGTATAGTCTACCAAG
GCGGGTATCCCTAGGAACAATATTATATAGGAAGCAGGTATACTCTGATCACATTCAGGATAAG
TGTACAGAAGAAAATACGGTGTTTACTCTTTAGGGAACTGGAAACACTCCCTGCATTGATGTAC
ATTTTAAGAATGGCACTTTTGATACATGTTATCATAAAGGTGCTTAATAGAGCTGAATTAAAGT
TTTTCAAATCTGTAAACAAAGCAAAAAAGTAAATTGTAGTCATTTGATTATTTTTTAAATTGGT
GCTTTATATTTTGTTCTCACTCAGAGTAAAAGCTGCAATTTATTGTTCACCAGCTTTGATGTAT
TCATTACTCAGTAATGCAATACCTCTATTGTTGAATTCCCTTTGGAAATAAGTGAAAATTCTAA
CGGCCACTGAAAGCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACATAATCTGCACCTATCCATA
TTAATTGGGTTGTATCCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTGTTTTT
TATTGTTGTTGTTTTGTAATTATCAAACCCAGGTAAGATATTGGTATCCTGCACTGGATTTTCA
AATGAAGTTCAGCAGAAGACAGTTAAGATTAAAGTACTATACAAAAATTTCAAAAGGGTCCATA
CTACGCTATCTGTATGACGACACTTAGGCTGGGGATCTCTTTCAGAAACTCGGACTTTAAAAGC
AACTTGGAGCAGTTGATCCACCTCCACATTCAAGTAATTTATGAATATGCAGAATAGGGATCTG
TTCATCTAGAAATTTTTACCATTTGTCTTCTGTGTAGCTGCAAGGAACACTAATGTTTATACAA
CTGTCAGTCCACCCAGTGGTGCAACTGGTTCTGATTCAGTCTTCCGATTCCTTTTTATTTTTCA
CTTTTTCCTATTTCTGAATTTTTTTTTTTATTTGTGATCTTGATTTTGATGAGGGGTTGGGGAG
TGGGGAGGGAGTCGAACCAAGACTTGGAGTTAAGAGGATTTTCATCTTTTGCATCCAACAGGCA
GAATATGATCTGTGTCCAAAAGTGAACTTGAGTCAGGAATGAATCAATTTCAGCATAAACAAGC
ACAAAAATTTAGTCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGAATATGATGAATTCCA
ACACAATGGGGCACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTGTTTTT
CTTTAGAGACATGCTCTTTCTCATGGGACTTGAAGTGGACTCATCTTTGTGCAGTGCTGGTTTT
GCCATACTCATTTCAAGTATTATAGACATATGTAATGGTGAAAATATATGAACTGTGGCCTTTT
TCATTCTTGTTACTTGTGATGCAATTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGAGATTT
ACCATGTATCAGTGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCTATAA
AATAGACTGTAGTACACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAAAATAAAAAATATATT
TGGCTTATTTTTCGCAGGAGCAATCCTTTTATACCATGAATATTACAAAAAAATTGTCAGATTC
TGAATATTTCTTCTTTGTAGATTTTTGGAATCATTATGAGTAAAAGTTTGTTACTTTATTTTAC
TATTTAAAAGATGTTATTTTACCATGTGTTACCAAGATGAAACTGTATGGGTAGCTTTTTTGTT
TGTTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAATTTT
TTGCGACTGTACACATAGCTGCAGCATTAAAAACTTAAAAAAATTGTTAAAAAAAAAAAAAGGG
AAAACATTTCAAAAAAAAAAAAAAAGATAAACAGTTACACCTTGTTTTCAATGTGTGGCTGAGT
GCCTCGATTTTTTCATGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTCCAAACAGGTTGTGTG
CTGGAGTTCCTTCAAGACAAAAACAAACCCAGCTTGGTCAAGGCCATTACCTGTTTCCCATCTG
TAGTTATTCGATGAAGTCATGTACATGACCGTTCTGTAGCAATAAATGTGCCATTTTTATAAAC
TGTTTCTGACACTTGTTTCATTTCATTTTGCATTGTCCATATAGCTATGATTCTCTTCTGTAAG
TAAAACGCATCTATATTTCATTTTCCAAGTGTTGGAGGTATTGACAGCTTAACAAACAAAACAT
ACAAAAAAAATCACAAAAACAAATTGAAAAGCAAAGCACATGATTGATCAAGGAAGAGATGCCC
TTAATGAAAATGGAACGGGATGCATGCAAAACAAAAAGAAAACTGTCTAGAGGATTAACTAATT
GAAGGAATATAATTAATGTGTGTGTAACACTGAAGCTATGCATTTGAAGAGCTCTGAACTGCAC
CAGTGTTTTCGGTTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACCAGTTGG
TCGGCTGTTTGGCAGAACATTCTCAGATCTTTTCAGTCAAAAATCTAAGATGATTTATTTTGTA
TCACTTTGTTAAAAGCTGAATATTGTTAACTACAGTTAATATTAACACTGTATTTATACTTTCT
CAAACTACATCCGCCCCACCACTTCTGGTTGCCTCTGTTGACTATTAATCCAGATGTAAACAAC
CAGATGTTTTTTTCTAACTTGTACAAACTGACGTGTGTCAACTATCATGGAAGGAAAAAAATGT
ACAGATTAAAATTATTCAGTGTTATGTACTGTAAGTTAATATTTTTGTAGAATGGACATCAATC
TACTTTGCAAAATTTGGAGGCTATTTCAACATTGCACTGTAGAAATGTAAAGTAATGTATGCAA
TGTAAAGGAAAGCCCGCGGTAGCTGAGCGCTTCATAACAGAATGTTCTAATCAAGTACGTGGTA
TTTGGGGATGTCTCCAATATTGCTCTTGTATTCTTTCTAATTGGGTTTAGTGACTAGTTGAAGG
AAAATGTTATAACGCCATTTGGTTCACATGTGAAGTGCCCTCCATAGCCAAATGTTGGGATTTT
TTTTTTTTTCGTTTTTGGTTGGACTGTTTGCAGATATTTAAATTTTATGAAATTTCCAAAGATT
TTGGTTGATAACCCCCTTTTACCTTCTAAATGATTTGAGATGTTCTTATGTTCTTACTGTGTGT
TTTAAATATATATAAAAGAGCCACAAGCATTT

hide sequence

RefSeq Acc Id:

NM_001330604 ⟹ NP_001317533

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,588,192 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,791,244 (-)	NCBI

Sequence:

show sequence

GCGGATCTGTAGTGGCGGCGGCGGCGGCGGCGGCGGGGAGGCAGCAGGCGCGGGAGCGGGCGCA
GGAGCAGGCGGCGGCGGTGGCGGCGGCGGTTAGACATGAACGCCGCCTCGGCGCCGGCGGTGCA
CGGAGAGCCCCTTCTCGCGCGCGGGCGGTTTGTGTGATTTTGCTAAAATGCATCACCAACAGCG
AATGGCTGCCTTAGGGACGGACAAAGAGCTGAGTGATTTACTGGATTTCAGTGCGATGTTTTCA
CCTCCTGTGAGCAGTGGGAAAAATGGACCAACTTCTTTGGCAAGTGGACATTTTACTGGCTCAA
ATGTAGAAGACAGAAGTAGCTCAGGGTCCTGGGGGAATGGAGGACATCCAAGCCCGTCCAGGAA
CTATGGAGATGGGACTCCCTATGACCACATGACCAGCAGGGACCTTGGGTCACATGACAATCTC
TCTCCACCTTTTGTCAATTCCAGAATACAAAGTAAAACAGAAAGGGGCTCATACTCATCTTATG
GGAGAGAATCAAACTTACAGGGTTGCCACCAGCAGAGTCTCCTTGGAGGTGACATGGATATGGG
CAACCCAGGAACCCTTTCGCCCACCAAACCTGGTTCCCAGTACTATCAGTATTCTAGCAATAAT
CCCCGAAGGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGACAAAGAAAGTTCGAAAAGTTC
CTCCAGGTTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCACTGCCGACTACAATAGGGACTC
GCCAGGCTATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCTAGCTCCTTCTTCATGCAAGAT
GGCCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTGGCTATGCAGGAA
TGTTGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCATCCACATGAACG
TTTGAGCTATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCGATGTCCACTTTC
CATCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCCAACGGGACAGACA
GTATAATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCAGACTGGAGATGCTCTGGGGAA
AGCACTTGCTTCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATCAAACCCTTCAACT
CCTGTTGGCTCTCCTCCATCTCTCTCAGGCACAGCTGTTTGGTCTAGAAATGGAGGACAGGCCT
CATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCGAATTGAAGATCGTTTAGA
AAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCT
GGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGG
GCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTGGGGACCCATCG
TGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTGCCAAACCAGGTTCCGGTTCCACAG
CTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCACCCCAGGACCCTTACAGAGGCATGC
CACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTCTGAGATCAAATCCGATGACGAGGG
TGATGAGAACCTGCAAGACACGAAATCTTCGGAGGACAAGAAATTAGATGACGACAAGAAGGAT
ATCAAATCAATTACTAGGTCAAGATCTAGCAATAATGACGATGAGGACCTGACACCAGAGCAGA
AGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCGTCTGCGGGTCCGTGA
CATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCTCAAGAGTGACAAGCCC
CAGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAGTCTGGAGCAGCAAGTCC
GAGAAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGGAAGAGAAGGTGTCCTC
AGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGAATGGGAGACGCATCGAATCACATG
GGACAGATGTAAAAGGGTCCAAGTTGCCACATTGCTTCATTAAAACAAGAGACCACTTCCTTAA
CAGCTGTATTATCTTAAACCCACATAAACACTTCTCCTTAACCCCCATTTTTGTAATATAAGAC
AAGTCTGAGTAGTTATGAATCGCAGACGCAAGAGGTTTCAGCATTCCCAATTATCAAAAAACAG
AAAAACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGACGACTTTCTTTAACATATCATTCA
GAATGTGCAAAGCAGTATGTACAGGCTGAGACACAGCCCAGAGACTGAACGGCAATCTTTCCAC
ACTGTGGAACAATGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAAAATATAATTAATTTGTAA
GTCTGAAAAAAAAATATTTAATTTAAAAAAAATTGTAAACTTGCAATAATGAAAAAGTGTACTT
CTGAAGAAAACTACATGAACGTTTTTGTTGGTATTCAAGTCAGCTAGTGTTTATAATTACTGGA
TATTGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAAACGTCCTGATGACAACGA
AGTGATGACATTAGCCATTCCTTAGGGTAGGAGGAACAGATGGATCTTATAGACCTATGACAAA
TATATATATAAATATATATATAAATATATATTAAAAATTTAGTGACTATGGTAAGCTTTTGTTC
ATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGTACTGATTAACTTTTTTAAAAGAAAGAT
TTTACTGTAAATATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCCCTTTCCCTGGTTTGTTAT
CGTAACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGATGAAATGCTGACCCTGATG
TTGCTTCTCATTCATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTTGGGAACACAGGACTTAA
AAGTCACATCATGTGTAGATATTACAAGCAGCATTACCAAGACATGGCAAAAAGAGTTTGTCTG
AATTGTAATGTTGCGTTTGTGAACCTATTCTGGGATTTTCAGAGGTACAAGGTTAGAATGCTAC
AATGTTACCACTGTGCCTTCCAATGTTTATATCATCGGAAACATAACATAATCAAAGTGGCTGT
GATTTAACAAAATGATTAAAGTGTTACCTACCTGTGTAGCCGAAGTAGTGTGCAGTGAGGCGTT
TCTGAATACATGGTCAGATTTTTGGAAAAAAACAAAAACAAAAAAAACAAGTAAAGTTCAAAAA
CCGTCAAATGAGAAAATTGCAAGTAGTGTGACAGAGCTGATTGATTTTGTTGCTTTCTTGATTT
TTTTTTTCAAAATGGGTTTACTAAAATGTAGATGACTTAACTGCCTCCTCCTTCGTCTGAAAAA
TGCCAATATTCAATCATCATGCAGCATTATAACAAGCCTTATAAGTCCTAAAGCATTAAGTTGC
ACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAATGAAGTTTATACTTACCA
TATTTGATAGAAACATAGATCAAGCTATGGCACAGCGACTCATCAGATAGCTAGCTTTGACGTC
TGGGCACAATTGAACCAACTTCCATCGTGAATCTTTATAATGATTGACTTTGGTGTATAGTGCA
GTAAACAAATAGTGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTGTCTCTAACTTGTTTCTAT
TTTTACAGCCACACAATTCTTGGCATGTATTAAGAAAAAAAAAAATCCCTGTTCAAGTAGTTTT
TCCACCTATCAGCACTGAGTAAATGCCATAAATCCATTGAAATGGTCTAAATGTTCCATCTGTT
CTCCTGTTTTGCCAGTTATATAGTAATGAAATACATTTGTAAATTTTATGCAACAAATGGCAAA
CGTATCATTATTTTGAAATTGTGTATGTAAAAGTTATATTTTTACATGTAGACTCTTGTTATTA
TGTGTTTTAATACATTGTATCAGTTTTTGTTTTTTTTTAAAAACTGTGGTTTAAAAAGAAGTCT
CATTTAAATGAAATAGCTACAAGAATCAGAATTTTATGTTCATTTCTGAAAATGTAAGAACAAA
TAAGATAGTTACCACGTGGTCATCTTTTACAAACCCATAAACATTTTGATTAGCTGTGTGTGTG
TTGAAAAACTGTAAATATGTTCAGTAGCGATAAAACTAAAATAACTTTGATTTGTTGATAAGTT
CCTAAAATGTGGAGGTGGATTAAAACCTTAGGAGAATAGCAGAAATCAAACTTCATGAAAAGTT
ATTTTGGGGCTTTCCTGTGAAATGTATGAACAAAGAGGCTCAGAGAAGGACATGGAAGACAATA
ATGTATACTCTCTCCTCCTCCCTGAATAATGAAAACCATGTGTATTTGTTCCCTCCGTATGTTA
AAGATTTCCTTTTAGTGGTACATTCTGCACTCATTTTGTATAGTCTACCAAGGCGGGTATCCCT
AGGAACAATATTATATAGGAAGCAGGTATACTCTGATCACATTCAGGATAAGTGTACAGAAGAA
AATACGGTGTTTACTCTTTAGGGAACTGGAAACACTCCCTGCATTGATGTACATTTTAAGAATG
GCACTTTTGATACATGTTATCATAAAGGTGCTTAATAGAGCTGAATTAAAGTTTTTCAAATCTG
TAAACAAAGCAAAAAAGTAAATTGTAGTCATTTGATTATTTTTTAAATTGGTGCTTTATATTTT
GTTCTCACTCAGAGTAAAAGCTGCAATTTATTGTTCACCAGCTTTGATGTATTCATTACTCAGT
AATGCAATACCTCTATTGTTGAATTCCCTTTGGAAATAAGTGAAAATTCTAACGGCCACTGAAA
GCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACATAATCTGCACCTATCCATATTAATTGGGTTG
TATCCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTGTTTTTTATTGTTGTTGT
TTTGTAATTATCAAACCCAGGTAAGATATTGGTATCCTGCACTGGATTTTCAAATGAAGTTCAG
CAGAAGACAGTTAAGATTAAAGTACTATACAAAAATTTCAAAAGGGTCCATACTACGCTATCTG
TATGACGACACTTAGGCTGGGGATCTCTTTCAGAAACTCGGACTTTAAAAGCAACTTGGAGCAG
TTGATCCACCTCCACATTCAAGTAATTTATGAATATGCAGAATAGGGATCTGTTCATCTAGAAA
TTTTTACCATTTGTCTTCTGTGTAGCTGCAAGGAACACTAATGTTTATACAACTGTCAGTCCAC
CCAGTGGTGCAACTGGTTCTGATTCAGTCTTCCGATTCCTTTTTATTTTTCACTTTTTCCTATT
TCTGAATTTTTTTTTTTATTTGTGATCTTGATTTTGATGAGGGGTTGGGGAGTGGGGAGGGAGT
CGAACCAAGACTTGGAGTTAAGAGGATTTTCATCTTTTGCATCCAACAGGCAGAATATGATCTG
TGTCCAAAAGTGAACTTGAGTCAGGAATGAATCAATTTCAGCATAAACAAGCACAAAAATTTAG
TCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGAATATGATGAATTCCAACACAATGGGGC
ACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTGTTTTTCTTTAGAGACAT
GCTCTTTCTCATGGGACTTGAAGTGGACTCATCTTTGTGCAGTGCTGGTTTTGCCATACTCATT
TCAAGTATTATAGACATATGTAATGGTGAAAATATATGAACTGTGGCCTTTTTCATTCTTGTTA
CTTGTGATGCAATTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGAGATTTACCATGTATCAG
TGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCTATAAAATAGACTGTAG
TACACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAAAATAAAAAATATATTTGGCTTATTTTT
CGCAGGAGCAATCCTTTTATACCATGAATATTACAAAAAAATTGTCAGATTCTGAATATTTCTT
CTTTGTAGATTTTTGGAATCATTATGAGTAAAAGTTTGTTACTTTATTTTACTATTTAAAAGAT
GTTATTTTACCATGTGTTACCAAGATGAAACTGTATGGGTAGCTTTTTTGTTTGTTTTTTGTTT
TGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAATTTTTTGCGACTGTAC
ACATAGCTGCAGCATTAAAAACTTAAAAAAATTGTTAAAAAAAAAAAAAGGGAAAACATTTCAA
AAAAAAAAAAAAAGATAAACAGTTACACCTTGTTTTCAATGTGTGGCTGAGTGCCTCGATTTTT
TCATGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTCCAAACAGGTTGTGTGCTGGAGTTCCTT
CAAGACAAAAACAAACCCAGCTTGGTCAAGGCCATTACCTGTTTCCCATCTGTAGTTATTCGAT
GAAGTCATGTACATGACCGTTCTGTAGCAATAAATGTGCCATTTTTATAAACTGTTTCTGACAC
TTGTTTCATTTCATTTTGCATTGTCCATATAGCTATGATTCTCTTCTGTAAGTAAAACGCATCT
ATATTTCATTTTCCAAGTGTTGGAGGTATTGACAGCTTAACAAACAAAACATACAAAAAAAATC
ACAAAAACAAATTGAAAAGCAAAGCACATGATTGATCAAGGAAGAGATGCCCTTAATGAAAATG
GAACGGGATGCATGCAAAACAAAAAGAAAACTGTCTAGAGGATTAACTAATTGAAGGAATATAA
TTAATGTGTGTGTAACACTGAAGCTATGCATTTGAAGAGCTCTGAACTGCACCAGTGTTTTCGG
TTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACCAGTTGGTCGGCTGTTTGG
CAGAACATTCTCAGATCTTTTCAGTCAAAAATCTAAGATGATTTATTTTGTATCACTTTGTTAA
AAGCTGAATATTGTTAACTACAGTTAATATTAACACTGTATTTATACTTTCTCAAACTACATCC
GCCCCACCACTTCTGGTTGCCTCTGTTGACTATTAATCCAGATGTAAACAACCAGATGTTTTTT
TCTAACTTGTACAAACTGACGTGTGTCAACTATCATGGAAGGAAAAAAATGTACAGATTAAAAT
TATTCAGTGTTATGTACTGTAAGTTAATATTTTTGTAGAATGGACATCAATCTACTTTGCAAAA
TTTGGAGGCTATTTCAACATTGCACTGTAGAAATGTAAAGTAATGTATGCAATGTAAAGGAAAG
CCCGCGGTAGCTGAGCGCTTCATAACAGAATGTTCTAATCAAGTACGTGGTATTTGGGGATGTC
TCCAATATTGCTCTTGTATTCTTTCTAATTGGGTTTAGTGACTAGTTGAAGGAAAATGTTATAA
CGCCATTTGGTTCACATGTGAAGTGCCCTCCATAGCCAAATGTTGGGATTTTTTTTTTTTTCGT
TTTTGGTTGGACTGTTTGCAGATATTTAAATTTTATGAAATTTCCAAAGATTTTGGTTGATAAC
CCCCTTTTACCTTCTAAATGATTTGAGATGTTCTTATGTTCTTACTGTGTGTTTTAAATATATA
TAAAAGAGCCACAAGCATTTAGTCTTTTAGTATTATATTTGATCATATAACTACTACTGAAAAG
GGGTGGGGGGGAATGTGCCTGTGCACCCCTACAGTATCTTGTGTAGTGTCTATTAACATTGTTC
TCTTTTAGAGGACCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001330605 ⟹ NP_001317534

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,401,688 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,604,768 (-)	NCBI

Sequence:

show sequence

GTGAGTCTGTCTGTGTATGTGCAGAACACAGACCCTCCTTTCTCCGTTTGTGGGGAATACTTCC
CTCGGGTGAAACTGAAGTTAATTTTTTTTTTTTTCCAAACACAAGCAGAGTCTCCTTGGAGGTG
ACATGGATATGGGCAACCCAGGAACCCTTTCGCCCACCAAACCTGGTTCCCAGTACTATCAGTA
TTCTAGCAATAATCCCCGAAGGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGACAAAGAAA
GTTCGAAAAGTTCCTCCAGGTTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCACTGCCGACT
ACAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCTAGCTCCTT
CTTCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCT
GGCTATGCAGGAATGTTGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGC
ATCCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCC
GATGTCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCC
AACGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCAGACTGGAG
ATGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATC
AAACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAGCAGGCACAGCTGTTTGGTCTAGA
AATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCGAA
TTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCC
ATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGA
GCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCA
TGGTGGGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTGCCAAACCA
GGTTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCACCCCAGGAC
CCTTACAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTCTGAGATCA
AATCCGATGACGAGGGTGATGAGAACCTGCAAGACACGAAATCTTCGGAGGACAAGAAATTAGA
TGACGACAAGAAGGATATCAAATCAATTACTAGGTCAAGATCTAGCAATAATGACGATGAGGAC
CTGACACCAGAGCAGAAGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGC
GTCTGCGGGTCCGTGACATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCT
CAAGAGTGACAAGCCCCAGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAGT
CTGGAGCAGCAAGTCCGAGAAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGG
AAGAGAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGAATGGGAGA
CGCATCGAATCACATGGGACAGATGTAAAAGGGTCCAAGTTGCCACATTGCTTCATTAAAACAA
GAGACCACTTCCTTAACAGCTGTATTATCTTAAACCCACATAAACACTTCTCCTTAACCCCCAT
TTTTGTAATATAAGACAAGTCTGAGTAGTTATGAATCGCAGACGCAAGAGGTTTCAGCATTCCC
AATTATCAAAAAACAGAAAAACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGACGACTTTC
TTTAACATATCATTCAGAATGTGCAAAGCAGTATGTACAGGCTGAGACACAGCCCAGAGACTGA
ACGGCAATCTTTCCACACTGTGGAACAATGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAAAA
TATAATTAATTTGTAAGTCTGAAAAAAAAATATTTAATTTAAAAAAAATTGTAAACTTGCAATA
ATGAAAAAGTGTACTTCTGAAGAAAACTACATGAACGTTTTTGTTGGTATTCAAGTCAGCTAGT
GTTTATAATTACTGGATATTGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAAAC
GTCCTGATGACAACGAAGTGATGACATTAGCCATTCCTTAGGGTAGGAGGAACAGATGGATCTT
ATAGACCTATGACAAATATATATATAAATATATATATAAATATATATTAAAAATTTAGTGACTA
TGGTAAGCTTTTGTTCATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGTACTGATTAACT
TTTTTAAAAGAAAGATTTTACTGTAAATATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCCCT
TTCCCTGGTTTGTTATCGTAACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGATGA
AATGCTGACCCTGATGTTGCTTCTCATTCATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTTG
GGAACACAGGACTTAAAAGTCACATCATGTGTAGATATTACAAGCAGCATTACCAAGACATGGC
AAAAAGAGTTTGTCTGAATTGTAATGTTGCGTTTGTGAACCTATTCTGGGATTTTCAGAGGTAC
AAGGTTAGAATGCTACAATGTTACCACTGTGCCTTCCAATGTTTATATCATCGGAAACATAACA
TAATCAAAGTGGCTGTGATTTAACAAAATGATTAAAGTGTTACCTACCTGTGTAGCCGAAGTAG
TGTGCAGTGAGGCGTTTCTGAATACATGGTCAGATTTTTGGAAAAAAACAAAAACAAAAAAAAC
AAGTAAAGTTCAAAAACCGTCAAATGAGAAAATTGCAAGTAGTGTGACAGAGCTGATTGATTTT
GTTGCTTTCTTGATTTTTTTTTTCAAAATGGGTTTACTAAAATGTAGATGACTTAACTGCCTCC
TCCTTCGTCTGAAAAATGCCAATATTCAATCATCATGCAGCATTATAACAAGCCTTATAAGTCC
TAAAGCATTAAGTTGCACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAATG
AAGTTTATACTTACCATATTTGATAGAAACATAGATCAAGCTATGGCACAGCGACTCATCAGAT
AGCTAGCTTTGACGTCTGGGCACAATTGAACCAACTTCCATCGTGAATCTTTATAATGATTGAC
TTTGGTGTATAGTGCAGTAAACAAATAGTGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTGTC
TCTAACTTGTTTCTATTTTTACAGCCACACAATTCTTGGCATGTATTAAGAAAAAAAAAAATCC
CTGTTCAAGTAGTTTTTCCACCTATCAGCACTGAGTAAATGCCATAAATCCATTGAAATGGTCT
AAATGTTCCATCTGTTCTCCTGTTTTGCCAGTTATATAGTAATGAAATACATTTGTAAATTTTA
TGCAACAAATGGCAAACGTATCATTATTTTGAAATTGTGTATGTAAAAGTTATATTTTTACATG
TAGACTCTTGTTATTATGTGTTTTAATACATTGTATCAGTTTTTGTTTTTTTTTAAAAACTGTG
GTTTAAAAAGAAGTCTCATTTAAATGAAATAGCTACAAGAATCAGAATTTTATGTTCATTTCTG
AAAATGTAAGAACAAATAAGATAGTTACCACGTGGTCATCTTTTACAAACCCATAAACATTTTG
ATTAGCTGTGTGTGTGTTGAAAAACTGTAAATATGTTCAGTAGCGATAAAACTAAAATAACTTT
GATTTGTTGATAAGTTCCTAAAATGTGGAGGTGGATTAAAACCTTAGGAGAATAGCAGAAATCA
AACTTCATGAAAAGTTATTTTGGGGCTTTCCTGTGAAATGTATGAACAAAGAGGCTCAGAGAAG
GACATGGAAGACAATAATGTATACTCTCTCCTCCTCCCTGAATAATGAAAACCATGTGTATTTG
TTCCCTCCGTATGTTAAAGATTTCCTTTTAGTGGTACATTCTGCACTCATTTTGTATAGTCTAC
CAAGGCGGGTATCCCTAGGAACAATATTATATAGGAAGCAGGTATACTCTGATCACATTCAGGA
TAAGTGTACAGAAGAAAATACGGTGTTTACTCTTTAGGGAACTGGAAACACTCCCTGCATTGAT
GTACATTTTAAGAATGGCACTTTTGATACATGTTATCATAAAGGTGCTTAATAGAGCTGAATTA
AAGTTTTTCAAATCTGTAAACAAAGCAAAAAAGTAAATTGTAGTCATTTGATTATTTTTTAAAT
TGGTGCTTTATATTTTGTTCTCACTCAGAGTAAAAGCTGCAATTTATTGTTCACCAGCTTTGAT
GTATTCATTACTCAGTAATGCAATACCTCTATTGTTGAATTCCCTTTGGAAATAAGTGAAAATT
CTAACGGCCACTGAAAGCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACATAATCTGCACCTATC
CATATTAATTGGGTTGTATCCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTGT
TTTTTATTGTTGTTGTTTTGTAATTATCAAACCCAGGTAAGATATTGGTATCCTGCACTGGATT
TTCAAATGAAGTTCAGCAGAAGACAGTTAAGATTAAAGTACTATACAAAAATTTCAAAAGGGTC
CATACTACGCTATCTGTATGACGACACTTAGGCTGGGGATCTCTTTCAGAAACTCGGACTTTAA
AAGCAACTTGGAGCAGTTGATCCACCTCCACATTCAAGTAATTTATGAATATGCAGAATAGGGA
TCTGTTCATCTAGAAATTTTTACCATTTGTCTTCTGTGTAGCTGCAAGGAACACTAATGTTTAT
ACAACTGTCAGTCCACCCAGTGGTGCAACTGGTTCTGATTCAGTCTTCCGATTCCTTTTTATTT
TTCACTTTTTCCTATTTCTGAATTTTTTTTTTTATTTGTGATCTTGATTTTGATGAGGGGTTGG
GGAGTGGGGAGGGAGTCGAACCAAGACTTGGAGTTAAGAGGATTTTCATCTTTTGCATCCAACA
GGCAGAATATGATCTGTGTCCAAAAGTGAACTTGAGTCAGGAATGAATCAATTTCAGCATAAAC
AAGCACAAAAATTTAGTCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGAATATGATGAAT
TCCAACACAATGGGGCACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTGT
TTTTCTTTAGAGACATGCTCTTTCTCATGGGACTTGAAGTGGACTCATCTTTGTGCAGTGCTGG
TTTTGCCATACTCATTTCAAGTATTATAGACATATGTAATGGTGAAAATATATGAACTGTGGCC
TTTTTCATTCTTGTTACTTGTGATGCAATTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGAG
ATTTACCATGTATCAGTGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCT
ATAAAATAGACTGTAGTACACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAAAATAAAAAATA
TATTTGGCTTATTTTTCGCAGGAGCAATCCTTTTATACCATGAATATTACAAAAAAATTGTCAG
ATTCTGAATATTTCTTCTTTGTAGATTTTTGGAATCATTATGAGTAAAAGTTTGTTACTTTATT
TTACTATTTAAAAGATGTTATTTTACCATGTGTTACCAAGATGAAACTGTATGGGTAGCTTTTT
TGTTTGTTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAA
TTTTTTGCGACTGTACACATAGCTGCAGCATTAAAAACTTAAAAAAATTGTTAAAAAAAAAAAA
AGGGAAAACATTTCAAAAAAAAAAAAAAAGATAAACAGTTACACCTTGTTTTCAATGTGTGGCT
GAGTGCCTCGATTTTTTCATGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTCCAAACAGGTTG
TGTGCTGGAGTTCCTTCAAGACAAAAACAAACCCAGCTTGGTCAAGGCCATTACCTGTTTCCCA
TCTGTAGTTATTCGATGAAGTCATGTACATGACCGTTCTGTAGCAATAAATGTGCCATTTTTAT
AAACTGTTTCTGACACTTGTTTCATTTCATTTTGCATTGTCCATATAGCTATGATTCTCTTCTG
TAAGTAAAACGCATCTATATTTCATTTTCCAAGTGTTGGAGGTATTGACAGCTTAACAAACAAA
ACATACAAAAAAAATCACAAAAACAAATTGAAAAGCAAAGCACATGATTGATCAAGGAAGAGAT
GCCCTTAATGAAAATGGAACGGGATGCATGCAAAACAAAAAGAAAACTGTCTAGAGGATTAACT
AATTGAAGGAATATAATTAATGTGTGTGTAACACTGAAGCTATGCATTTGAAGAGCTCTGAACT
GCACCAGTGTTTTCGGTTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACCAG
TTGGTCGGCTGTTTGGCAGAACATTCTCAGATCTTTTCAGTCAAAAATCTAAGATGATTTATTT
TGTATCACTTTGTTAAAAGCTGAATATTGTTAACTACAGTTAATATTAACACTGTATTTATACT
TTCTCAAACTACATCCGCCCCACCACTTCTGGTTGCCTCTGTTGACTATTAATCCAGATGTAAA
CAACCAGATGTTTTTTTCTAACTTGTACAAACTGACGTGTGTCAACTATCATGGAAGGAAAAAA
ATGTACAGATTAAAATTATTCAGTGTTATGTACTGTAAGTTAATATTTTTGTAGAATGGACATC
AATCTACTTTGCAAAATTTGGAGGCTATTTCAACATTGCACTGTAGAAATGTAAAGTAATGTAT
GCAATGTAAAGGAAAGCCCGCGGTAGCTGAGCGCTTCATAACAGAATGTTCTAATCAAGTACGT
GGTATTTGGGGATGTCTCCAATATTGCTCTTGTATTCTTTCTAATTGGGTTTAGTGACTAGTTG
AAGGAAAATGTTATAACGCCATTTGGTTCACATGTGAAGTGCCCTCCATAGCCAAATGTTGGGA
TTTTTTTTTTTTTCGTTTTTGGTTGGACTGTTTGCAGATATTTAAATTTTATGAAATTTCCAAA
GATTTTGGTTGATAACCCCCTTTTACCTTCTAAATGATTTGAGATGTTCTTATGTTCTTACTGT
GTGTTTTAAATATATATAAAAGAGCCACAAGCATTTAGTCTTTTAGTATTATATTTGATCATAT
AACTACTACTGAAAAGGGGTGGGGGGGAATGTGCCTGTGCACCCCTACAGTATCTTGTGTAGTG
TCTATTAACATTGTTCTCTTTTAGAGGACCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001348211 ⟹ NP_001335140

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,510,772 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,713,873 (-)	NCBI

Sequence:

show sequence

ATCATTAACTCATGTTCTGTTTCCATGGAGCACAGGAGAGTAACAAGGAAGGCCCCTTAAAAGA
AAGGCCTTTTAAAGTGGAGGTCTCAGTTCACAAACTTTAAAAGTTTACGAAGTAGTATTTTAGA
ATTTTAATCACCAGATATATTGGGGGAATTTATTACTTCCTATTCATATGGAAGAGGACAGCAG
AGATGTAGAAGACAGAAGTAGCTCAGGGTCCTGGGGGAATGGAGGACATCCAAGCCCGTCCAGG
AACTATGGAGATGGGACTCCCTATGACCACATGACCAGCAGGGACCTTGGGTCACATGACAATC
TCTCTCCACCTTTTGTCAATTCCAGAATACAAAGTAAAACAGAAAGGGGCTCATACTCATCTTA
TGGGAGAGAATCAAACTTACAGGGTTGCCACCAGCAGAGTCTCCTTGGAGGTGACATGGATATG
GGCAACCCAGGAACCCTTTCGCCCACCAAACCTGGTTCCCAGTACTATCAGTATTCTAGCAATA
ATCCCCGAAGGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGACAAAGAAAGTTCGAAAAGT
TCCTCCAGGTTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCACTGCCGACTACAATAGGGAC
TCGCCAGGCTATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCTAGCTCCTTCTTCATGCAAG
ATGGCCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTGGCTATGCAGG
AATGTTGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCATCCACATGAA
CGTTTGAGCTATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCGATGTCCACTT
TCCATCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCCAACGGGACAGA
CAGTATAATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCAGACTGGAGATGCTCTGGGG
AAAGCACTTGCTTCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATCAAACCCTTCAA
CTCCTGTTGGCTCTCCTCCATCTCTCTCAGCAGGCACAGCTGTTTGGTCTAGAAATGGAGGACA
GGCCTCATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCGAATTGAAGATCGT
TTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTA
TGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGG
TCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTGGGGACC
CATCGTGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTGCCAAACCAGGTTCCGGTTC
CACAGCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCACCCCAGGACCCTTACAGAGG
CATGCCACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTCTGAGATCAAATCCGATGAC
GAGGGTGATGAGAACCTGCAAGACACGAAATCTTCGGAGGACAAGAAATTAGATGACGACAAGA
AGGATATCAAATCAATTACTAGGTCAAGATCTAGCAATAATGACGATGAGGACCTGACACCAGA
GCAGAAGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCGTCTGCGGGTC
CGTGACATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCTCAAGAGTGACA
AGCCCCAGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAGTCTGGAGCAGCA
AGTCCGAGAAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGGAAGAGAAGGTG
TCCTCAGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGAATGGGAGACGCATCGAATC
ACATGGGACAGATGTAAAAGGGTCCAAGTTGCCACATTGCTTCATTAAAACAAGAGACCACTTC
CTTAACAGCTGTATTATCTTAAACCCACATAAACACTTCTCCTTAACCCCCATTTTTGTAATAT
AAGACAAGTCTGAGTAGTTATGAATCGCAGACGCAAGAGGTTTCAGCATTCCCAATTATCAAAA
AACAGAAAAACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGACGACTTTCTTTAACATATC
ATTCAGAATGTGCAAAGCAGTATGTACAGGCTGAGACACAGCCCAGAGACTGAACGGCAATCTT
TCCACACTGTGGAACAATGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAAAATATAATTAATT
TGTAAGTCTGAAAAAAAAATATTTAATTTAAAAAAAATTGTAAACTTGCAATAATGAAAAAGTG
TACTTCTGAAGAAAACTACATGAACGTTTTTGTTGGTATTCAAGTCAGCTAGTGTTTATAATTA
CTGGATATTGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAAACGTCCTGATGAC
AACGAAGTGATGACATTAGCCATTCCTTAGGGTAGGAGGAACAGATGGATCTTATAGACCTATG
ACAAATATATATATAAATATATATATAAATATATATTAAAAATTTAGTGACTATGGTAAGCTTT
TGTTCATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGTACTGATTAACTTTTTTAAAAGA
AAGATTTTACTGTAAATATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCCCTTTCCCTGGTTT
GTTATCGTAACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGATGAAATGCTGACCC
TGATGTTGCTTCTCATTCATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTTGGGAACACAGGA
CTTAAAAGTCACATCATGTGTAGATATTACAAGCAGCATTACCAAGACATGGCAAAAAGAGTTT
GTCTGAATTGTAATGTTGCGTTTGTGAACCTATTCTGGGATTTTCAGAGGTACAAGGTTAGAAT
GCTACAATGTTACCACTGTGCCTTCCAATGTTTATATCATCGGAAACATAACATAATCAAAGTG
GCTGTGATTTAACAAAATGATTAAAGTGTTACCTACCTGTGTAGCCGAAGTAGTGTGCAGTGAG
GCGTTTCTGAATACATGGTCAGATTTTTGGAAAAAAACAAAAACAAAAAAAACAAGTAAAGTTC
AAAAACCGTCAAATGAGAAAATTGCAAGTAGTGTGACAGAGCTGATTGATTTTGTTGCTTTCTT
GATTTTTTTTTTCAAAATGGGTTTACTAAAATGTAGATGACTTAACTGCCTCCTCCTTCGTCTG
AAAAATGCCAATATTCAATCATCATGCAGCATTATAACAAGCCTTATAAGTCCTAAAGCATTAA
GTTGCACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAATGAAGTTTATACT
TACCATATTTGATAGAAACATAGATCAAGCTATGGCACAGCGACTCATCAGATAGCTAGCTTTG
ACGTCTGGGCACAATTGAACCAACTTCCATCGTGAATCTTTATAATGATTGACTTTGGTGTATA
GTGCAGTAAACAAATAGTGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTGTCTCTAACTTGTT
TCTATTTTTACAGCCACACAATTCTTGGCATGTATTAAGAAAAAAAAAAATCCCTGTTCAAGTA
GTTTTTCCACCTATCAGCACTGAGTAAATGCCATAAATCCATTGAAATGGTCTAAATGTTCCAT
CTGTTCTCCTGTTTTGCCAGTTATATAGTAATGAAATACATTTGTAAATTTTATGCAACAAATG
GCAAACGTATCATTATTTTGAAATTGTGTATGTAAAAGTTATATTTTTACATGTAGACTCTTGT
TATTATGTGTTTTAATACATTGTATCAGTTTTTGTTTTTTTTTAAAAACTGTGGTTTAAAAAGA
AGTCTCATTTAAATGAAATAGCTACAAGAATCAGAATTTTATGTTCATTTCTGAAAATGTAAGA
ACAAATAAGATAGTTACCACGTGGTCATCTTTTACAAACCCATAAACATTTTGATTAGCTGTGT
GTGTGTTGAAAAACTGTAAATATGTTCAGTAGCGATAAAACTAAAATAACTTTGATTTGTTGAT
AAGTTCCTAAAATGTGGAGGTGGATTAAAACCTTAGGAGAATAGCAGAAATCAAACTTCATGAA
AAGTTATTTTGGGGCTTTCCTGTGAAATGTATGAACAAAGAGGCTCAGAGAAGGACATGGAAGA
CAATAATGTATACTCTCTCCTCCTCCCTGAATAATGAAAACCATGTGTATTTGTTCCCTCCGTA
TGTTAAAGATTTCCTTTTAGTGGTACATTCTGCACTCATTTTGTATAGTCTACCAAGGCGGGTA
TCCCTAGGAACAATATTATATAGGAAGCAGGTATACTCTGATCACATTCAGGATAAGTGTACAG
AAGAAAATACGGTGTTTACTCTTTAGGGAACTGGAAACACTCCCTGCATTGATGTACATTTTAA
GAATGGCACTTTTGATACATGTTATCATAAAGGTGCTTAATAGAGCTGAATTAAAGTTTTTCAA
ATCTGTAAACAAAGCAAAAAAGTAAATTGTAGTCATTTGATTATTTTTTAAATTGGTGCTTTAT
ATTTTGTTCTCACTCAGAGTAAAAGCTGCAATTTATTGTTCACCAGCTTTGATGTATTCATTAC
TCAGTAATGCAATACCTCTATTGTTGAATTCCCTTTGGAAATAAGTGAAAATTCTAACGGCCAC
TGAAAGCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACATAATCTGCACCTATCCATATTAATTG
GGTTGTATCCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTGTTTTTTATTGTT
GTTGTTTTGTAATTATCAAACCCAGGTAAGATATTGGTATCCTGCACTGGATTTTCAAATGAAG
TTCAGCAGAAGACAGTTAAGATTAAAGTACTATACAAAAATTTCAAAAGGGTCCATACTACGCT
ATCTGTATGACGACACTTAGGCTGGGGATCTCTTTCAGAAACTCGGACTTTAAAAGCAACTTGG
AGCAGTTGATCCACCTCCACATTCAAGTAATTTATGAATATGCAGAATAGGGATCTGTTCATCT
AGAAATTTTTACCATTTGTCTTCTGTGTAGCTGCAAGGAACACTAATGTTTATACAACTGTCAG
TCCACCCAGTGGTGCAACTGGTTCTGATTCAGTCTTCCGATTCCTTTTTATTTTTCACTTTTTC
CTATTTCTGAATTTTTTTTTTTATTTGTGATCTTGATTTTGATGAGGGGTTGGGGAGTGGGGAG
GGAGTCGAACCAAGACTTGGAGTTAAGAGGATTTTCATCTTTTGCATCCAACAGGCAGAATATG
ATCTGTGTCCAAAAGTGAACTTGAGTCAGGAATGAATCAATTTCAGCATAAACAAGCACAAAAA
TTTAGTCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGAATATGATGAATTCCAACACAAT
GGGGCACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTGTTTTTCTTTAGA
GACATGCTCTTTCTCATGGGACTTGAAGTGGACTCATCTTTGTGCAGTGCTGGTTTTGCCATAC
TCATTTCAAGTATTATAGACATATGTAATGGTGAAAATATATGAACTGTGGCCTTTTTCATTCT
TGTTACTTGTGATGCAATTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGAGATTTACCATGT
ATCAGTGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCTATAAAATAGAC
TGTAGTACACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAAAATAAAAAATATATTTGGCTTA
TTTTTCGCAGGAGCAATCCTTTTATACCATGAATATTACAAAAAAATTGTCAGATTCTGAATAT
TTCTTCTTTGTAGATTTTTGGAATCATTATGAGTAAAAGTTTGTTACTTTATTTTACTATTTAA
AAGATGTTATTTTACCATGTGTTACCAAGATGAAACTGTATGGGTAGCTTTTTTGTTTGTTTTT
TGTTTTGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAATTTTTTGCGAC
TGTACACATAGCTGCAGCATTAAAAACTTAAAAAAATTGTTAAAAAAAAAAAAAGGGAAAACAT
TTCAAAAAAAAAAAAAAAGATAAACAGTTACACCTTGTTTTCAATGTGTGGCTGAGTGCCTCGA
TTTTTTCATGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTCCAAACAGGTTGTGTGCTGGAGT
TCCTTCAAGACAAAAACAAACCCAGCTTGGTCAAGGCCATTACCTGTTTCCCATCTGTAGTTAT
TCGATGAAGTCATGTACATGACCGTTCTGTAGCAATAAATGTGCCATTTTTATAAACTGTTTCT
GACACTTGTTTCATTTCATTTTGCATTGTCCATATAGCTATGATTCTCTTCTGTAAGTAAAACG
CATCTATATTTCATTTTCCAAGTGTTGGAGGTATTGACAGCTTAACAAACAAAACATACAAAAA
AAATCACAAAAACAAATTGAAAAGCAAAGCACATGATTGATCAAGGAAGAGATGCCCTTAATGA
AAATGGAACGGGATGCATGCAAAACAAAAAGAAAACTGTCTAGAGGATTAACTAATTGAAGGAA
TATAATTAATGTGTGTGTAACACTGAAGCTATGCATTTGAAGAGCTCTGAACTGCACCAGTGTT
TTCGGTTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACCAGTTGGTCGGCTG
TTTGGCAGAACATTCTCAGATCTTTTCAGTCAAAAATCTAAGATGATTTATTTTGTATCACTTT
GTTAAAAGCTGAATATTGTTAACTACAGTTAATATTAACACTGTATTTATACTTTCTCAAACTA
CATCCGCCCCACCACTTCTGGTTGCCTCTGTTGACTATTAATCCAGATGTAAACAACCAGATGT
TTTTTTCTAACTTGTACAAACTGACGTGTGTCAACTATCATGGAAGGAAAAAAATGTACAGATT
AAAATTATTCAGTGTTATGTACTGTAAGTTAATATTTTTGTAGAATGGACATCAATCTACTTTG
CAAAATTTGGAGGCTATTTCAACATTGCACTGTAGAAATGTAAAGTAATGTATGCAATGTAAAG
GAAAGCCCGCGGTAGCTGAGCGCTTCATAACAGAATGTTCTAATCAAGTACGTGGTATTTGGGG
ATGTCTCCAATATTGCTCTTGTATTCTTTCTAATTGGGTTTAGTGACTAGTTGAAGGAAAATGT
TATAACGCCATTTGGTTCACATGTGAAGTGCCCTCCATAGCCAAATGTTGGGATTTTTTTTTTT
TTCGTTTTTGGTTGGACTGTTTGCAGATATTTAAATTTTATGAAATTTCCAAAGATTTTGGTTG
ATAACCCCCTTTTACCTTCTAAATGATTTGAGATGTTCTTATGTTCTTACTGTGTGTTTTAAAT
ATATATAAAAGAGCCACAAGCATTTAGTCTTTTAGTATTATATTTGATCATATAACTACTACTG
AAAAGGGGTGGGGGGGAATGTGCCTGTGCACCCCTACAGTATCTTGTGTAGTGTCTATTAACAT
TGTTCTCTTTTAGAGGACCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001348212 ⟹ NP_001335141

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,422,297 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,625,376 (-)	NCBI

Sequence:

show sequence

AGATTCACGCCACAACAGTTTATTCATCCACATGCTTTTTGGCGACTCTTCATCACGTATTTGG
GCTTAGATCTTCTGGTGCCTCCCTCGGCGTGCTACCCATAAGGTAAAACAGAAAGGGGCTCATA
CTCATCTTATGGGAGAGAATCAAACTTACAGGGTTGCCACCAGAGTCTCCTTGGAGGTGACATG
GATATGGGCAACCCAGGAACCCTTTCGCCCACCAAACCTGGTTCCCAGTACTATCAGTATTCTA
GCAATAATCCCCGAAGGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGACAAAGAAAGTTCG
AAAAGTTCCTCCAGGTTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCACTGCCGACTACAAT
AGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCTAGCTCCTTCTTCA
TGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTGGCTA
TGCAGGAATGTTGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCATCCA
CATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCGATGT
CCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCCAACGG
GACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCAGACTGGAGATGCT
CTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATCAAACC
CTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAGCAGGCACAGCTGTTTGGTCTAGAAATGG
AGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCGAATTGAA
GATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCA
CAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCAT
GGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTG
GGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTGCCAAACCAGGTTC
CGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCACCCCAGGACCCTTA
CAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTCTGAGATCAAATCC
GATGACGAGGGTGATGAGAACCTGCAAGACACGAAATCTTCGGAGGACAAGAAATTAGATGACG
ACAAGAAGGATATCAAATCAATTACTAGCAATAATGACGATGAGGACCTGACACCAGAGCAGAA
GGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCGTCTGCGGGTCCGTGAC
ATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCTCAAGAGTGACAAGCCCC
AGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAGTCTGGAGCAGCAAGTCCG
AGAAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGGAAGAGAAGGTGTCCTCA
GAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGAATGGGAGACGCATCGAATCACATGG
GACAGATGTAAAAGGGTCCAAGTTGCCACATTGCTTCATTAAAACAAGAGACCACTTCCTTAAC
AGCTGTATTATCTTAAACCCACATAAACACTTCTCCTTAACCCCCATTTTTGTAATATAAGACA
AGTCTGAGTAGTTATGAATCGCAGACGCAAGAGGTTTCAGCATTCCCAATTATCAAAAAACAGA
AAAACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGACGACTTTCTTTAACATATCATTCAG
AATGTGCAAAGCAGTATGTACAGGCTGAGACACAGCCCAGAGACTGAACGGCAATCTTTCCACA
CTGTGGAACAATGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAAAATATAATTAATTTGTAAG
TCTGAAAAAAAAATATTTAATTTAAAAAAAATTGTAAACTTGCAATAATGAAAAAGTGTACTTC
TGAAGAAAACTACATGAACGTTTTTGTTGGTATTCAAGTCAGCTAGTGTTTATAATTACTGGAT
ATTGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAAACGTCCTGATGACAACGAA
GTGATGACATTAGCCATTCCTTAGGGTAGGAGGAACAGATGGATCTTATAGACCTATGACAAAT
ATATATATAAATATATATATAAATATATATTAAAAATTTAGTGACTATGGTAAGCTTTTGTTCA
TTTGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGTACTGATTAACTTTTTTAAAAGAAAGATT
TTACTGTAAATATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCCCTTTCCCTGGTTTGTTATC
GTAACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGATGAAATGCTGACCCTGATGT
TGCTTCTCATTCATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTTGGGAACACAGGACTTAAA
AGTCACATCATGTGTAGATATTACAAGCAGCATTACCAAGACATGGCAAAAAGAGTTTGTCTGA
ATTGTAATGTTGCGTTTGTGAACCTATTCTGGGATTTTCAGAGGTACAAGGTTAGAATGCTACA
ATGTTACCACTGTGCCTTCCAATGTTTATATCATCGGAAACATAACATAATCAAAGTGGCTGTG
ATTTAACAAAATGATTAAAGTGTTACCTACCTGTGTAGCCGAAGTAGTGTGCAGTGAGGCGTTT
CTGAATACATGGTCAGATTTTTGGAAAAAAACAAAAACAAAAAAAACAAGTAAAGTTCAAAAAC
CGTCAAATGAGAAAATTGCAAGTAGTGTGACAGAGCTGATTGATTTTGTTGCTTTCTTGATTTT
TTTTTTCAAAATGGGTTTACTAAAATGTAGATGACTTAACTGCCTCCTCCTTCGTCTGAAAAAT
GCCAATATTCAATCATCATGCAGCATTATAACAAGCCTTATAAGTCCTAAAGCATTAAGTTGCA
CTTTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAATGAAGTTTATACTTACCAT
ATTTGATAGAAACATAGATCAAGCTATGGCACAGCGACTCATCAGATAGCTAGCTTTGACGTCT
GGGCACAATTGAACCAACTTCCATCGTGAATCTTTATAATGATTGACTTTGGTGTATAGTGCAG
TAAACAAATAGTGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTGTCTCTAACTTGTTTCTATT
TTTACAGCCACACAATTCTTGGCATGTATTAAGAAAAAAAAAAATCCCTGTTCAAGTAGTTTTT
CCACCTATCAGCACTGAGTAAATGCCATAAATCCATTGAAATGGTCTAAATGTTCCATCTGTTC
TCCTGTTTTGCCAGTTATATAGTAATGAAATACATTTGTAAATTTTATGCAACAAATGGCAAAC
GTATCATTATTTTGAAATTGTGTATGTAAAAGTTATATTTTTACATGTAGACTCTTGTTATTAT
GTGTTTTAATACATTGTATCAGTTTTTGTTTTTTTTTAAAAACTGTGGTTTAAAAAGAAGTCTC
ATTTAAATGAAATAGCTACAAGAATCAGAATTTTATGTTCATTTCTGAAAATGTAAGAACAAAT
AAGATAGTTACCACGTGGTCATCTTTTACAAACCCATAAACATTTTGATTAGCTGTGTGTGTGT
TGAAAAACTGTAAATATGTTCAGTAGCGATAAAACTAAAATAACTTTGATTTGTTGATAAGTTC
CTAAAATGTGGAGGTGGATTAAAACCTTAGGAGAATAGCAGAAATCAAACTTCATGAAAAGTTA
TTTTGGGGCTTTCCTGTGAAATGTATGAACAAAGAGGCTCAGAGAAGGACATGGAAGACAATAA
TGTATACTCTCTCCTCCTCCCTGAATAATGAAAACCATGTGTATTTGTTCCCTCCGTATGTTAA
AGATTTCCTTTTAGTGGTACATTCTGCACTCATTTTGTATAGTCTACCAAGGCGGGTATCCCTA
GGAACAATATTATATAGGAAGCAGGTATACTCTGATCACATTCAGGATAAGTGTACAGAAGAAA
ATACGGTGTTTACTCTTTAGGGAACTGGAAACACTCCCTGCATTGATGTACATTTTAAGAATGG
CACTTTTGATACATGTTATCATAAAGGTGCTTAATAGAGCTGAATTAAAGTTTTTCAAATCTGT
AAACAAAGCAAAAAAGTAAATTGTAGTCATTTGATTATTTTTTAAATTGGTGCTTTATATTTTG
TTCTCACTCAGAGTAAAAGCTGCAATTTATTGTTCACCAGCTTTGATGTATTCATTACTCAGTA
ATGCAATACCTCTATTGTTGAATTCCCTTTGGAAATAAGTGAAAATTCTAACGGCCACTGAAAG
CTGCTCGCTAGGTTTTGCTTGGTGGAGAAACATAATCTGCACCTATCCATATTAATTGGGTTGT
ATCCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTGTTTTTTATTGTTGTTGTT
TTGTAATTATCAAACCCAGGTAAGATATTGGTATCCTGCACTGGATTTTCAAATGAAGTTCAGC
AGAAGACAGTTAAGATTAAAGTACTATACAAAAATTTCAAAAGGGTCCATACTACGCTATCTGT
ATGACGACACTTAGGCTGGGGATCTCTTTCAGAAACTCGGACTTTAAAAGCAACTTGGAGCAGT
TGATCCACCTCCACATTCAAGTAATTTATGAATATGCAGAATAGGGATCTGTTCATCTAGAAAT
TTTTACCATTTGTCTTCTGTGTAGCTGCAAGGAACACTAATGTTTATACAACTGTCAGTCCACC
CAGTGGTGCAACTGGTTCTGATTCAGTCTTCCGATTCCTTTTTATTTTTCACTTTTTCCTATTT
CTGAATTTTTTTTTTTATTTGTGATCTTGATTTTGATGAGGGGTTGGGGAGTGGGGAGGGAGTC
GAACCAAGACTTGGAGTTAAGAGGATTTTCATCTTTTGCATCCAACAGGCAGAATATGATCTGT
GTCCAAAAGTGAACTTGAGTCAGGAATGAATCAATTTCAGCATAAACAAGCACAAAAATTTAGT
CTGCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGAATATGATGAATTCCAACACAATGGGGCA
CCAAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTGTTTTTCTTTAGAGACATG
CTCTTTCTCATGGGACTTGAAGTGGACTCATCTTTGTGCAGTGCTGGTTTTGCCATACTCATTT
CAAGTATTATAGACATATGTAATGGTGAAAATATATGAACTGTGGCCTTTTTCATTCTTGTTAC
TTGTGATGCAATTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGAGATTTACCATGTATCAGT
GCCTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCTATAAAATAGACTGTAGT
ACACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAAAATAAAAAATATATTTGGCTTATTTTTC
GCAGGAGCAATCCTTTTATACCATGAATATTACAAAAAAATTGTCAGATTCTGAATATTTCTTC
TTTGTAGATTTTTGGAATCATTATGAGTAAAAGTTTGTTACTTTATTTTACTATTTAAAAGATG
TTATTTTACCATGTGTTACCAAGATGAAACTGTATGGGTAGCTTTTTTGTTTGTTTTTTGTTTT
GTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAATTTTTTGCGACTGTACA
CATAGCTGCAGCATTAAAAACTTAAAAAAATTGTTAAAAAAAAAAAAAGGGAAAACATTTCAAA
AAAAAAAAAAAAGATAAACAGTTACACCTTGTTTTCAATGTGTGGCTGAGTGCCTCGATTTTTT
CATGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTCCAAACAGGTTGTGTGCTGGAGTTCCTTC
AAGACAAAAACAAACCCAGCTTGGTCAAGGCCATTACCTGTTTCCCATCTGTAGTTATTCGATG
AAGTCATGTACATGACCGTTCTGTAGCAATAAATGTGCCATTTTTATAAACTGTTTCTGACACT
TGTTTCATTTCATTTTGCATTGTCCATATAGCTATGATTCTCTTCTGTAAGTAAAACGCATCTA
TATTTCATTTTCCAAGTGTTGGAGGTATTGACAGCTTAACAAACAAAACATACAAAAAAAATCA
CAAAAACAAATTGAAAAGCAAAGCACATGATTGATCAAGGAAGAGATGCCCTTAATGAAAATGG
AACGGGATGCATGCAAAACAAAAAGAAAACTGTCTAGAGGATTAACTAATTGAAGGAATATAAT
TAATGTGTGTGTAACACTGAAGCTATGCATTTGAAGAGCTCTGAACTGCACCAGTGTTTTCGGT
TGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACCAGTTGGTCGGCTGTTTGGC
AGAACATTCTCAGATCTTTTCAGTCAAAAATCTAAGATGATTTATTTTGTATCACTTTGTTAAA
AGCTGAATATTGTTAACTACAGTTAATATTAACACTGTATTTATACTTTCTCAAACTACATCCG
CCCCACCACTTCTGGTTGCCTCTGTTGACTATTAATCCAGATGTAAACAACCAGATGTTTTTTT
CTAACTTGTACAAACTGACGTGTGTCAACTATCATGGAAGGAAAAAAATGTACAGATTAAAATT
ATTCAGTGTTATGTACTGTAAGTTAATATTTTTGTAGAATGGACATCAATCTACTTTGCAAAAT
TTGGAGGCTATTTCAACATTGCACTGTAGAAATGTAAAGTAATGTATGCAATGTAAAGGAAAGC
CCGCGGTAGCTGAGCGCTTCATAACAGAATGTTCTAATCAAGTACGTGGTATTTGGGGATGTCT
CCAATATTGCTCTTGTATTCTTTCTAATTGGGTTTAGTGACTAGTTGAAGGAAAATGTTATAAC
GCCATTTGGTTCACATGTGAAGTGCCCTCCATAGCCAAATGTTGGGATTTTTTTTTTTTTCGTT
TTTGGTTGGACTGTTTGCAGATATTTAAATTTTATGAAATTTCCAAAGATTTTGGTTGATAACC
CCCTTTTACCTTCTAAATGATTTGAGATGTTCTTATGTTCTTACTGTGTGTTTTAAATATATAT
AAAAGAGCCACAAGCATTTAGTCTTTTAGTATTATATTTGATCATATAACTACTACTGAAAAGG
GGTGGGGGGGAATGTGCCTGTGCACCCCTACAGTATCTTGTGTAGTGTCTATTAACATTGTTCT
CTTTTAGAGGACCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001348213 ⟹ NP_001335142

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,422,297 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,625,376 (-)	NCBI

Sequence:

show sequence

AGATTCACGCCACAACAGTTTATTCATCCACATGCTTTTTGGCGACTCTTCATCACGTATTTGG
GCTTAGATCTTCTGGTGCCTCCCTCGGCGTGCTACCCATAAGGTAAAACAGAAAGGGGCTCATA
CTCATCTTATGGGAGAGAATCAAACTTACAGGGTTGCCACCAGCAGAGTCTCCTTGGAGGTGAC
ATGGATATGGGCAACCCAGGAACCCTTTCGCCCACCAAACCTGGTTCCCAGTACTATCAGTATT
CTAGCAATAATCCCCGAAGGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGACAAAGAAAGT
TCGAAAAGTTCCTCCAGGTTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCACTGCCGACTAC
AATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCTAGCTCCTTCT
TCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTGG
CTATGCAGGAATGTTGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCAT
CCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCGA
TGTCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCCAA
CGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCAGACTGGAGAT
GCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATCAA
ACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAGCAGGCACAGCTGTTTGGTCTAGAAA
TGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCGAATT
GAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCAT
CCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGC
CATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATG
GTGGGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTGCCAAACCAGG
TTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCACCCCAGGACCC
TTACAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTCTGAGATCAAA
TCCGATGACGAGGGTGATGAGAACCTGCAAGACACGAAATCTTCGGAGGACAAGAAATTAGATG
ACGACAAGAAGGATATCAAATCAATTACTAGGTCAAGATCTAGCAATAATGACGATGAGGACCT
GACACCAGAGCAGAAGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCGT
CTGCGGGTCCGTGACATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCTCA
AGAGTGACAAGCCCCAGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAGTCT
GGAGCAGCAAGTCCGAGAAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGGAA
GAGAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGAATGGGAGACG
CATCGAATCACATGGGACAGATGTAAAAGGGTCCAAGTTGCCACATTGCTTCATTAAAACAAGA
GACCACTTCCTTAACAGCTGTATTATCTTAAACCCACATAAACACTTCTCCTTAACCCCCATTT
TTGTAATATAAGACAAGTCTGAGTAGTTATGAATCGCAGACGCAAGAGGTTTCAGCATTCCCAA
TTATCAAAAAACAGAAAAACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGACGACTTTCTT
TAACATATCATTCAGAATGTGCAAAGCAGTATGTACAGGCTGAGACACAGCCCAGAGACTGAAC
GGCAATCTTTCCACACTGTGGAACAATGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAAAATA
TAATTAATTTGTAAGTCTGAAAAAAAAATATTTAATTTAAAAAAAATTGTAAACTTGCAATAAT
GAAAAAGTGTACTTCTGAAGAAAACTACATGAACGTTTTTGTTGGTATTCAAGTCAGCTAGTGT
TTATAATTACTGGATATTGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAAACGT
CCTGATGACAACGAAGTGATGACATTAGCCATTCCTTAGGGTAGGAGGAACAGATGGATCTTAT
AGACCTATGACAAATATATATATAAATATATATATAAATATATATTAAAAATTTAGTGACTATG
GTAAGCTTTTGTTCATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGTACTGATTAACTTT
TTTAAAAGAAAGATTTTACTGTAAATATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCCCTTT
CCCTGGTTTGTTATCGTAACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGATGAAA
TGCTGACCCTGATGTTGCTTCTCATTCATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTTGGG
AACACAGGACTTAAAAGTCACATCATGTGTAGATATTACAAGCAGCATTACCAAGACATGGCAA
AAAGAGTTTGTCTGAATTGTAATGTTGCGTTTGTGAACCTATTCTGGGATTTTCAGAGGTACAA
GGTTAGAATGCTACAATGTTACCACTGTGCCTTCCAATGTTTATATCATCGGAAACATAACATA
ATCAAAGTGGCTGTGATTTAACAAAATGATTAAAGTGTTACCTACCTGTGTAGCCGAAGTAGTG
TGCAGTGAGGCGTTTCTGAATACATGGTCAGATTTTTGGAAAAAAACAAAAACAAAAAAAACAA
GTAAAGTTCAAAAACCGTCAAATGAGAAAATTGCAAGTAGTGTGACAGAGCTGATTGATTTTGT
TGCTTTCTTGATTTTTTTTTTCAAAATGGGTTTACTAAAATGTAGATGACTTAACTGCCTCCTC
CTTCGTCTGAAAAATGCCAATATTCAATCATCATGCAGCATTATAACAAGCCTTATAAGTCCTA
AAGCATTAAGTTGCACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAATGAA
GTTTATACTTACCATATTTGATAGAAACATAGATCAAGCTATGGCACAGCGACTCATCAGATAG
CTAGCTTTGACGTCTGGGCACAATTGAACCAACTTCCATCGTGAATCTTTATAATGATTGACTT
TGGTGTATAGTGCAGTAAACAAATAGTGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTGTCTC
TAACTTGTTTCTATTTTTACAGCCACACAATTCTTGGCATGTATTAAGAAAAAAAAAAATCCCT
GTTCAAGTAGTTTTTCCACCTATCAGCACTGAGTAAATGCCATAAATCCATTGAAATGGTCTAA
ATGTTCCATCTGTTCTCCTGTTTTGCCAGTTATATAGTAATGAAATACATTTGTAAATTTTATG
CAACAAATGGCAAACGTATCATTATTTTGAAATTGTGTATGTAAAAGTTATATTTTTACATGTA
GACTCTTGTTATTATGTGTTTTAATACATTGTATCAGTTTTTGTTTTTTTTTAAAAACTGTGGT
TTAAAAAGAAGTCTCATTTAAATGAAATAGCTACAAGAATCAGAATTTTATGTTCATTTCTGAA
AATGTAAGAACAAATAAGATAGTTACCACGTGGTCATCTTTTACAAACCCATAAACATTTTGAT
TAGCTGTGTGTGTGTTGAAAAACTGTAAATATGTTCAGTAGCGATAAAACTAAAATAACTTTGA
TTTGTTGATAAGTTCCTAAAATGTGGAGGTGGATTAAAACCTTAGGAGAATAGCAGAAATCAAA
CTTCATGAAAAGTTATTTTGGGGCTTTCCTGTGAAATGTATGAACAAAGAGGCTCAGAGAAGGA
CATGGAAGACAATAATGTATACTCTCTCCTCCTCCCTGAATAATGAAAACCATGTGTATTTGTT
CCCTCCGTATGTTAAAGATTTCCTTTTAGTGGTACATTCTGCACTCATTTTGTATAGTCTACCA
AGGCGGGTATCCCTAGGAACAATATTATATAGGAAGCAGGTATACTCTGATCACATTCAGGATA
AGTGTACAGAAGAAAATACGGTGTTTACTCTTTAGGGAACTGGAAACACTCCCTGCATTGATGT
ACATTTTAAGAATGGCACTTTTGATACATGTTATCATAAAGGTGCTTAATAGAGCTGAATTAAA
GTTTTTCAAATCTGTAAACAAAGCAAAAAAGTAAATTGTAGTCATTTGATTATTTTTTAAATTG
GTGCTTTATATTTTGTTCTCACTCAGAGTAAAAGCTGCAATTTATTGTTCACCAGCTTTGATGT
ATTCATTACTCAGTAATGCAATACCTCTATTGTTGAATTCCCTTTGGAAATAAGTGAAAATTCT
AACGGCCACTGAAAGCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACATAATCTGCACCTATCCA
TATTAATTGGGTTGTATCCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTGTTT
TTTATTGTTGTTGTTTTGTAATTATCAAACCCAGGTAAGATATTGGTATCCTGCACTGGATTTT
CAAATGAAGTTCAGCAGAAGACAGTTAAGATTAAAGTACTATACAAAAATTTCAAAAGGGTCCA
TACTACGCTATCTGTATGACGACACTTAGGCTGGGGATCTCTTTCAGAAACTCGGACTTTAAAA
GCAACTTGGAGCAGTTGATCCACCTCCACATTCAAGTAATTTATGAATATGCAGAATAGGGATC
TGTTCATCTAGAAATTTTTACCATTTGTCTTCTGTGTAGCTGCAAGGAACACTAATGTTTATAC
AACTGTCAGTCCACCCAGTGGTGCAACTGGTTCTGATTCAGTCTTCCGATTCCTTTTTATTTTT
CACTTTTTCCTATTTCTGAATTTTTTTTTTTATTTGTGATCTTGATTTTGATGAGGGGTTGGGG
AGTGGGGAGGGAGTCGAACCAAGACTTGGAGTTAAGAGGATTTTCATCTTTTGCATCCAACAGG
CAGAATATGATCTGTGTCCAAAAGTGAACTTGAGTCAGGAATGAATCAATTTCAGCATAAACAA
GCACAAAAATTTAGTCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGAATATGATGAATTC
CAACACAATGGGGCACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTGTTT
TTCTTTAGAGACATGCTCTTTCTCATGGGACTTGAAGTGGACTCATCTTTGTGCAGTGCTGGTT
TTGCCATACTCATTTCAAGTATTATAGACATATGTAATGGTGAAAATATATGAACTGTGGCCTT
TTTCATTCTTGTTACTTGTGATGCAATTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGAGAT
TTACCATGTATCAGTGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCTAT
AAAATAGACTGTAGTACACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAAAATAAAAAATATA
TTTGGCTTATTTTTCGCAGGAGCAATCCTTTTATACCATGAATATTACAAAAAAATTGTCAGAT
TCTGAATATTTCTTCTTTGTAGATTTTTGGAATCATTATGAGTAAAAGTTTGTTACTTTATTTT
ACTATTTAAAAGATGTTATTTTACCATGTGTTACCAAGATGAAACTGTATGGGTAGCTTTTTTG
TTTGTTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAATT
TTTTGCGACTGTACACATAGCTGCAGCATTAAAAACTTAAAAAAATTGTTAAAAAAAAAAAAAG
GGAAAACATTTCAAAAAAAAAAAAAAAGATAAACAGTTACACCTTGTTTTCAATGTGTGGCTGA
GTGCCTCGATTTTTTCATGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTCCAAACAGGTTGTG
TGCTGGAGTTCCTTCAAGACAAAAACAAACCCAGCTTGGTCAAGGCCATTACCTGTTTCCCATC
TGTAGTTATTCGATGAAGTCATGTACATGACCGTTCTGTAGCAATAAATGTGCCATTTTTATAA
ACTGTTTCTGACACTTGTTTCATTTCATTTTGCATTGTCCATATAGCTATGATTCTCTTCTGTA
AGTAAAACGCATCTATATTTCATTTTCCAAGTGTTGGAGGTATTGACAGCTTAACAAACAAAAC
ATACAAAAAAAATCACAAAAACAAATTGAAAAGCAAAGCACATGATTGATCAAGGAAGAGATGC
CCTTAATGAAAATGGAACGGGATGCATGCAAAACAAAAAGAAAACTGTCTAGAGGATTAACTAA
TTGAAGGAATATAATTAATGTGTGTGTAACACTGAAGCTATGCATTTGAAGAGCTCTGAACTGC
ACCAGTGTTTTCGGTTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACCAGTT
GGTCGGCTGTTTGGCAGAACATTCTCAGATCTTTTCAGTCAAAAATCTAAGATGATTTATTTTG
TATCACTTTGTTAAAAGCTGAATATTGTTAACTACAGTTAATATTAACACTGTATTTATACTTT
CTCAAACTACATCCGCCCCACCACTTCTGGTTGCCTCTGTTGACTATTAATCCAGATGTAAACA
ACCAGATGTTTTTTTCTAACTTGTACAAACTGACGTGTGTCAACTATCATGGAAGGAAAAAAAT
GTACAGATTAAAATTATTCAGTGTTATGTACTGTAAGTTAATATTTTTGTAGAATGGACATCAA
TCTACTTTGCAAAATTTGGAGGCTATTTCAACATTGCACTGTAGAAATGTAAAGTAATGTATGC
AATGTAAAGGAAAGCCCGCGGTAGCTGAGCGCTTCATAACAGAATGTTCTAATCAAGTACGTGG
TATTTGGGGATGTCTCCAATATTGCTCTTGTATTCTTTCTAATTGGGTTTAGTGACTAGTTGAA
GGAAAATGTTATAACGCCATTTGGTTCACATGTGAAGTGCCCTCCATAGCCAAATGTTGGGATT
TTTTTTTTTTTCGTTTTTGGTTGGACTGTTTGCAGATATTTAAATTTTATGAAATTTCCAAAGA
TTTTGGTTGATAACCCCCTTTTACCTTCTAAATGATTTGAGATGTTCTTATGTTCTTACTGTGT
GTTTTAAATATATATAAAAGAGCCACAAGCATTTAGTCTTTTAGTATTATATTTGATCATATAA
CTACTACTGAAAAGGGGTGGGGGGGAATGTGCCTGTGCACCCCTACAGTATCTTGTGTAGTGTC
TATTAACATTGTTCTCTTTTAGAGGACCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001348214 ⟹ NP_001335143

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,321,841 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,524,941 (-)	NCBI

Sequence:

show sequence

ATATGGGAAAATGCAACTGAAGGAATTGTTGTGAAAAAAGGGACAGCGAGTTTGAAATAAAAGT
TGTTAGAGTGGTACTGAGGAGAAAAAAGAATCCGAGACCATGTACTGCGCATACACAATCCCGG
GCATGGGCGGCAACTCTTTGATGTACTACTATAATGGGAAAGCGGTCTATGCTCCATCAGCAAG
CACTGCCGACTACAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACCAGCACTTTC
CCTAGCTCCTTCTTCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGA
TGAATCAGCCTGGCTATGCAGGAATGTTGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTA
CTGTAGCCTGCATCCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGACATCAATTCC
AGTCTTCCTCCGATGTCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTA
CGCCTCCTGCCAACGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTC
CCAGACTGGAGATGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCACACTAACAAC
AGCTTTTCATCAAACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAGGCACAGCTGTTT
GGTCTAGAAATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCA
AAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCA
GTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTC
ATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACA
TTCACTCATGGTGGGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTG
CCAAACCAGGTTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCAC
CCCAGGACCCTTACAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTC
TGAGATCAAATCCGATGACGAGGGTGATGAGAACCTGCAAGACACGAAATCTTCGGAGGACAAG
AAATTAGATGACGACAAGAAGGATATCAAATCAATTACTAGCAATAATGACGATGAGGACCTGA
CACCAGAGCAGAAGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCGTCT
GCGGGTCCGTGACATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCTCAAG
AGTGACAAGCCCCAGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAGTCTGG
AGCAGCAAGTCCGAGAAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGGAAGA
GAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGAATGGGAGACGCA
TCGAATCACATGGGACAGATGTAAAAGGGTCCAAGTTGCCACATTGCTTCATTAAAACAAGAGA
CCACTTCCTTAACAGCTGTATTATCTTAAACCCACATAAACACTTCTCCTTAACCCCCATTTTT
GTAATATAAGACAAGTCTGAGTAGTTATGAATCGCAGACGCAAGAGGTTTCAGCATTCCCAATT
ATCAAAAAACAGAAAAACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGACGACTTTCTTTA
ACATATCATTCAGAATGTGCAAAGCAGTATGTACAGGCTGAGACACAGCCCAGAGACTGAACGG
CAATCTTTCCACACTGTGGAACAATGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAAAATATA
ATTAATTTGTAAGTCTGAAAAAAAAATATTTAATTTAAAAAAAATTGTAAACTTGCAATAATGA
AAAAGTGTACTTCTGAAGAAAACTACATGAACGTTTTTGTTGGTATTCAAGTCAGCTAGTGTTT
ATAATTACTGGATATTGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAAACGTCC
TGATGACAACGAAGTGATGACATTAGCCATTCCTTAGGGTAGGAGGAACAGATGGATCTTATAG
ACCTATGACAAATATATATATAAATATATATATAAATATATATTAAAAATTTAGTGACTATGGT
AAGCTTTTGTTCATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGTACTGATTAACTTTTT
TAAAAGAAAGATTTTACTGTAAATATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCCCTTTCC
CTGGTTTGTTATCGTAACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGATGAAATG
CTGACCCTGATGTTGCTTCTCATTCATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTTGGGAA
CACAGGACTTAAAAGTCACATCATGTGTAGATATTACAAGCAGCATTACCAAGACATGGCAAAA
AGAGTTTGTCTGAATTGTAATGTTGCGTTTGTGAACCTATTCTGGGATTTTCAGAGGTACAAGG
TTAGAATGCTACAATGTTACCACTGTGCCTTCCAATGTTTATATCATCGGAAACATAACATAAT
CAAAGTGGCTGTGATTTAACAAAATGATTAAAGTGTTACCTACCTGTGTAGCCGAAGTAGTGTG
CAGTGAGGCGTTTCTGAATACATGGTCAGATTTTTGGAAAAAAACAAAAACAAAAAAAACAAGT
AAAGTTCAAAAACCGTCAAATGAGAAAATTGCAAGTAGTGTGACAGAGCTGATTGATTTTGTTG
CTTTCTTGATTTTTTTTTTCAAAATGGGTTTACTAAAATGTAGATGACTTAACTGCCTCCTCCT
TCGTCTGAAAAATGCCAATATTCAATCATCATGCAGCATTATAACAAGCCTTATAAGTCCTAAA
GCATTAAGTTGCACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAATGAAGT
TTATACTTACCATATTTGATAGAAACATAGATCAAGCTATGGCACAGCGACTCATCAGATAGCT
AGCTTTGACGTCTGGGCACAATTGAACCAACTTCCATCGTGAATCTTTATAATGATTGACTTTG
GTGTATAGTGCAGTAAACAAATAGTGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTGTCTCTA
ACTTGTTTCTATTTTTACAGCCACACAATTCTTGGCATGTATTAAGAAAAAAAAAAATCCCTGT
TCAAGTAGTTTTTCCACCTATCAGCACTGAGTAAATGCCATAAATCCATTGAAATGGTCTAAAT
GTTCCATCTGTTCTCCTGTTTTGCCAGTTATATAGTAATGAAATACATTTGTAAATTTTATGCA
ACAAATGGCAAACGTATCATTATTTTGAAATTGTGTATGTAAAAGTTATATTTTTACATGTAGA
CTCTTGTTATTATGTGTTTTAATACATTGTATCAGTTTTTGTTTTTTTTTAAAAACTGTGGTTT
AAAAAGAAGTCTCATTTAAATGAAATAGCTACAAGAATCAGAATTTTATGTTCATTTCTGAAAA
TGTAAGAACAAATAAGATAGTTACCACGTGGTCATCTTTTACAAACCCATAAACATTTTGATTA
GCTGTGTGTGTGTTGAAAAACTGTAAATATGTTCAGTAGCGATAAAACTAAAATAACTTTGATT
TGTTGATAAGTTCCTAAAATGTGGAGGTGGATTAAAACCTTAGGAGAATAGCAGAAATCAAACT
TCATGAAAAGTTATTTTGGGGCTTTCCTGTGAAATGTATGAACAAAGAGGCTCAGAGAAGGACA
TGGAAGACAATAATGTATACTCTCTCCTCCTCCCTGAATAATGAAAACCATGTGTATTTGTTCC
CTCCGTATGTTAAAGATTTCCTTTTAGTGGTACATTCTGCACTCATTTTGTATAGTCTACCAAG
GCGGGTATCCCTAGGAACAATATTATATAGGAAGCAGGTATACTCTGATCACATTCAGGATAAG
TGTACAGAAGAAAATACGGTGTTTACTCTTTAGGGAACTGGAAACACTCCCTGCATTGATGTAC
ATTTTAAGAATGGCACTTTTGATACATGTTATCATAAAGGTGCTTAATAGAGCTGAATTAAAGT
TTTTCAAATCTGTAAACAAAGCAAAAAAGTAAATTGTAGTCATTTGATTATTTTTTAAATTGGT
GCTTTATATTTTGTTCTCACTCAGAGTAAAAGCTGCAATTTATTGTTCACCAGCTTTGATGTAT
TCATTACTCAGTAATGCAATACCTCTATTGTTGAATTCCCTTTGGAAATAAGTGAAAATTCTAA
CGGCCACTGAAAGCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACATAATCTGCACCTATCCATA
TTAATTGGGTTGTATCCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTGTTTTT
TATTGTTGTTGTTTTGTAATTATCAAACCCAGGTAAGATATTGGTATCCTGCACTGGATTTTCA
AATGAAGTTCAGCAGAAGACAGTTAAGATTAAAGTACTATACAAAAATTTCAAAAGGGTCCATA
CTACGCTATCTGTATGACGACACTTAGGCTGGGGATCTCTTTCAGAAACTCGGACTTTAAAAGC
AACTTGGAGCAGTTGATCCACCTCCACATTCAAGTAATTTATGAATATGCAGAATAGGGATCTG
TTCATCTAGAAATTTTTACCATTTGTCTTCTGTGTAGCTGCAAGGAACACTAATGTTTATACAA
CTGTCAGTCCACCCAGTGGTGCAACTGGTTCTGATTCAGTCTTCCGATTCCTTTTTATTTTTCA
CTTTTTCCTATTTCTGAATTTTTTTTTTTATTTGTGATCTTGATTTTGATGAGGGGTTGGGGAG
TGGGGAGGGAGTCGAACCAAGACTTGGAGTTAAGAGGATTTTCATCTTTTGCATCCAACAGGCA
GAATATGATCTGTGTCCAAAAGTGAACTTGAGTCAGGAATGAATCAATTTCAGCATAAACAAGC
ACAAAAATTTAGTCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGAATATGATGAATTCCA
ACACAATGGGGCACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTGTTTTT
CTTTAGAGACATGCTCTTTCTCATGGGACTTGAAGTGGACTCATCTTTGTGCAGTGCTGGTTTT
GCCATACTCATTTCAAGTATTATAGACATATGTAATGGTGAAAATATATGAACTGTGGCCTTTT
TCATTCTTGTTACTTGTGATGCAATTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGAGATTT
ACCATGTATCAGTGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCTATAA
AATAGACTGTAGTACACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAAAATAAAAAATATATT
TGGCTTATTTTTCGCAGGAGCAATCCTTTTATACCATGAATATTACAAAAAAATTGTCAGATTC
TGAATATTTCTTCTTTGTAGATTTTTGGAATCATTATGAGTAAAAGTTTGTTACTTTATTTTAC
TATTTAAAAGATGTTATTTTACCATGTGTTACCAAGATGAAACTGTATGGGTAGCTTTTTTGTT
TGTTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAATTTT
TTGCGACTGTACACATAGCTGCAGCATTAAAAACTTAAAAAAATTGTTAAAAAAAAAAAAAGGG
AAAACATTTCAAAAAAAAAAAAAAAGATAAACAGTTACACCTTGTTTTCAATGTGTGGCTGAGT
GCCTCGATTTTTTCATGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTCCAAACAGGTTGTGTG
CTGGAGTTCCTTCAAGACAAAAACAAACCCAGCTTGGTCAAGGCCATTACCTGTTTCCCATCTG
TAGTTATTCGATGAAGTCATGTACATGACCGTTCTGTAGCAATAAATGTGCCATTTTTATAAAC
TGTTTCTGACACTTGTTTCATTTCATTTTGCATTGTCCATATAGCTATGATTCTCTTCTGTAAG
TAAAACGCATCTATATTTCATTTTCCAAGTGTTGGAGGTATTGACAGCTTAACAAACAAAACAT
ACAAAAAAAATCACAAAAACAAATTGAAAAGCAAAGCACATGATTGATCAAGGAAGAGATGCCC
TTAATGAAAATGGAACGGGATGCATGCAAAACAAAAAGAAAACTGTCTAGAGGATTAACTAATT
GAAGGAATATAATTAATGTGTGTGTAACACTGAAGCTATGCATTTGAAGAGCTCTGAACTGCAC
CAGTGTTTTCGGTTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACCAGTTGG
TCGGCTGTTTGGCAGAACATTCTCAGATCTTTTCAGTCAAAAATCTAAGATGATTTATTTTGTA
TCACTTTGTTAAAAGCTGAATATTGTTAACTACAGTTAATATTAACACTGTATTTATACTTTCT
CAAACTACATCCGCCCCACCACTTCTGGTTGCCTCTGTTGACTATTAATCCAGATGTAAACAAC
CAGATGTTTTTTTCTAACTTGTACAAACTGACGTGTGTCAACTATCATGGAAGGAAAAAAATGT
ACAGATTAAAATTATTCAGTGTTATGTACTGTAAGTTAATATTTTTGTAGAATGGACATCAATC
TACTTTGCAAAATTTGGAGGCTATTTCAACATTGCACTGTAGAAATGTAAAGTAATGTATGCAA
TGTAAAGGAAAGCCCGCGGTAGCTGAGCGCTTCATAACAGAATGTTCTAATCAAGTACGTGGTA
TTTGGGGATGTCTCCAATATTGCTCTTGTATTCTTTCTAATTGGGTTTAGTGACTAGTTGAAGG
AAAATGTTATAACGCCATTTGGTTCACATGTGAAGTGCCCTCCATAGCCAAATGTTGGGATTTT
TTTTTTTTTCGTTTTTGGTTGGACTGTTTGCAGATATTTAAATTTTATGAAATTTCCAAAGATT
TTGGTTGATAACCCCCTTTTACCTTCTAAATGATTTGAGATGTTCTTATGTTCTTACTGTGTGT
TTTAAATATATATAAAAGAGCCACAAGCATTTAGTCTTTTAGTATTATATTTGATCATATAACT
ACTACTGAAAAGGGGTGGGGGGGAATGTGCCTGTGCACCCCTACAGTATCTTGTGTAGTGTCTA
TTAACATTGTTCTCTTTTAGAGGACCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001348215 ⟹ NP_001335144

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,320,935 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,524,035 (-)	NCBI

Sequence:

show sequence

GTGCATAACCCCAGCAGAAGGTTTATACTTGCCATCTGGAGGTTTATTTTTTTTTTCCTTCGTC
TGGGCCCACTGAAGGAAAAGGATTTCAATATTTTCAAATCGGTCTATGCTCCATCAGCAAGCAC
TGCCGACTACAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCT
AGCTCCTTCTTCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGA
ATCAGCCTGGCTATGCAGGAATGTTGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTACTG
TAGCCTGCATCCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGACATCAATTCCAGT
CTTCCTCCGATGTCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGC
CTCCTGCCAACGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCA
GACTGGAGATGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCACACTAACAACAGC
TTTTCATCAAACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAGCAGGCACAGCTGTTT
GGTCTAGAAATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCA
AAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCA
GTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTC
ATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACA
TTCACTCATGGTGGGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTG
CCAAACCAGGTTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCAC
CCCAGGACCCTTACAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTC
TGAGATCAAATCCGATGACGAGGGTGATGAGAACCTGCAAGACACGAAATCTTCGGAGGACAAG
AAATTAGATGACGACAAGAAGGATATCAAATCAATTACTAGGTCAAGATCTAGCAATAATGACG
ATGAGGACCTGACACCAGAGCAGAAGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGC
CCGAGAGCGTCTGCGGGTCCGTGACATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAG
CTCCACCTCAAGAGTGACAAGCCCCAGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCA
TCCTCAGTCTGGAGCAGCAAGTCCGAGAAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAG
AAGGGAGGAAGAGAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGA
ATGGGAGACGCATCGAATCACATGGGACAGATGTAAAAGGGTCCAAGTTGCCACATTGCTTCAT
TAAAACAAGAGACCACTTCCTTAACAGCTGTATTATCTTAAACCCACATAAACACTTCTCCTTA
ACCCCCATTTTTGTAATATAAGACAAGTCTGAGTAGTTATGAATCGCAGACGCAAGAGGTTTCA
GCATTCCCAATTATCAAAAAACAGAAAAACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGA
CGACTTTCTTTAACATATCATTCAGAATGTGCAAAGCAGTATGTACAGGCTGAGACACAGCCCA
GAGACTGAACGGCAATCTTTCCACACTGTGGAACAATGCATTTGTGCCTAAACTTCTTTTGGAA
AAAAAAAATATAATTAATTTGTAAGTCTGAAAAAAAAATATTTAATTTAAAAAAAATTGTAAAC
TTGCAATAATGAAAAAGTGTACTTCTGAAGAAAACTACATGAACGTTTTTGTTGGTATTCAAGT
CAGCTAGTGTTTATAATTACTGGATATTGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAAAAC
CAGCAAACGTCCTGATGACAACGAAGTGATGACATTAGCCATTCCTTAGGGTAGGAGGAACAGA
TGGATCTTATAGACCTATGACAAATATATATATAAATATATATATAAATATATATTAAAAATTT
AGTGACTATGGTAAGCTTTTGTTCATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGTACT
GATTAACTTTTTTAAAAGAAAGATTTTACTGTAAATATGGATTTTTTTTTTTTTGGTCTTATTT
CTGTCCCTTTCCCTGGTTTGTTATCGTAACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTG
CAGGATGAAATGCTGACCCTGATGTTGCTTCTCATTCATAAATAAGTAGAAAGTTGTTTCTCCA
GTCTTTTGGGAACACAGGACTTAAAAGTCACATCATGTGTAGATATTACAAGCAGCATTACCAA
GACATGGCAAAAAGAGTTTGTCTGAATTGTAATGTTGCGTTTGTGAACCTATTCTGGGATTTTC
AGAGGTACAAGGTTAGAATGCTACAATGTTACCACTGTGCCTTCCAATGTTTATATCATCGGAA
ACATAACATAATCAAAGTGGCTGTGATTTAACAAAATGATTAAAGTGTTACCTACCTGTGTAGC
CGAAGTAGTGTGCAGTGAGGCGTTTCTGAATACATGGTCAGATTTTTGGAAAAAAACAAAAACA
AAAAAAACAAGTAAAGTTCAAAAACCGTCAAATGAGAAAATTGCAAGTAGTGTGACAGAGCTGA
TTGATTTTGTTGCTTTCTTGATTTTTTTTTTCAAAATGGGTTTACTAAAATGTAGATGACTTAA
CTGCCTCCTCCTTCGTCTGAAAAATGCCAATATTCAATCATCATGCAGCATTATAACAAGCCTT
ATAAGTCCTAAAGCATTAAGTTGCACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAG
TATGAATGAAGTTTATACTTACCATATTTGATAGAAACATAGATCAAGCTATGGCACAGCGACT
CATCAGATAGCTAGCTTTGACGTCTGGGCACAATTGAACCAACTTCCATCGTGAATCTTTATAA
TGATTGACTTTGGTGTATAGTGCAGTAAACAAATAGTGCTCCTAGTTAAGTATTTGTCAGCATC
CTTTTGTCTCTAACTTGTTTCTATTTTTACAGCCACACAATTCTTGGCATGTATTAAGAAAAAA
AAAAATCCCTGTTCAAGTAGTTTTTCCACCTATCAGCACTGAGTAAATGCCATAAATCCATTGA
AATGGTCTAAATGTTCCATCTGTTCTCCTGTTTTGCCAGTTATATAGTAATGAAATACATTTGT
AAATTTTATGCAACAAATGGCAAACGTATCATTATTTTGAAATTGTGTATGTAAAAGTTATATT
TTTACATGTAGACTCTTGTTATTATGTGTTTTAATACATTGTATCAGTTTTTGTTTTTTTTTAA
AAACTGTGGTTTAAAAAGAAGTCTCATTTAAATGAAATAGCTACAAGAATCAGAATTTTATGTT
CATTTCTGAAAATGTAAGAACAAATAAGATAGTTACCACGTGGTCATCTTTTACAAACCCATAA
ACATTTTGATTAGCTGTGTGTGTGTTGAAAAACTGTAAATATGTTCAGTAGCGATAAAACTAAA
ATAACTTTGATTTGTTGATAAGTTCCTAAAATGTGGAGGTGGATTAAAACCTTAGGAGAATAGC
AGAAATCAAACTTCATGAAAAGTTATTTTGGGGCTTTCCTGTGAAATGTATGAACAAAGAGGCT
CAGAGAAGGACATGGAAGACAATAATGTATACTCTCTCCTCCTCCCTGAATAATGAAAACCATG
TGTATTTGTTCCCTCCGTATGTTAAAGATTTCCTTTTAGTGGTACATTCTGCACTCATTTTGTA
TAGTCTACCAAGGCGGGTATCCCTAGGAACAATATTATATAGGAAGCAGGTATACTCTGATCAC
ATTCAGGATAAGTGTACAGAAGAAAATACGGTGTTTACTCTTTAGGGAACTGGAAACACTCCCT
GCATTGATGTACATTTTAAGAATGGCACTTTTGATACATGTTATCATAAAGGTGCTTAATAGAG
CTGAATTAAAGTTTTTCAAATCTGTAAACAAAGCAAAAAAGTAAATTGTAGTCATTTGATTATT
TTTTAAATTGGTGCTTTATATTTTGTTCTCACTCAGAGTAAAAGCTGCAATTTATTGTTCACCA
GCTTTGATGTATTCATTACTCAGTAATGCAATACCTCTATTGTTGAATTCCCTTTGGAAATAAG
TGAAAATTCTAACGGCCACTGAAAGCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACATAATCTG
CACCTATCCATATTAATTGGGTTGTATCCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTT
TAGTGTGTTTTTTATTGTTGTTGTTTTGTAATTATCAAACCCAGGTAAGATATTGGTATCCTGC
ACTGGATTTTCAAATGAAGTTCAGCAGAAGACAGTTAAGATTAAAGTACTATACAAAAATTTCA
AAAGGGTCCATACTACGCTATCTGTATGACGACACTTAGGCTGGGGATCTCTTTCAGAAACTCG
GACTTTAAAAGCAACTTGGAGCAGTTGATCCACCTCCACATTCAAGTAATTTATGAATATGCAG
AATAGGGATCTGTTCATCTAGAAATTTTTACCATTTGTCTTCTGTGTAGCTGCAAGGAACACTA
ATGTTTATACAACTGTCAGTCCACCCAGTGGTGCAACTGGTTCTGATTCAGTCTTCCGATTCCT
TTTTATTTTTCACTTTTTCCTATTTCTGAATTTTTTTTTTTATTTGTGATCTTGATTTTGATGA
GGGGTTGGGGAGTGGGGAGGGAGTCGAACCAAGACTTGGAGTTAAGAGGATTTTCATCTTTTGC
ATCCAACAGGCAGAATATGATCTGTGTCCAAAAGTGAACTTGAGTCAGGAATGAATCAATTTCA
GCATAAACAAGCACAAAAATTTAGTCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGAATA
TGATGAATTCCAACACAATGGGGCACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTT
TTGTTTGTTTTTCTTTAGAGACATGCTCTTTCTCATGGGACTTGAAGTGGACTCATCTTTGTGC
AGTGCTGGTTTTGCCATACTCATTTCAAGTATTATAGACATATGTAATGGTGAAAATATATGAA
CTGTGGCCTTTTTCATTCTTGTTACTTGTGATGCAATTAAGTGAAGATAAGAAAAAAAAAAAAA
AAGCAGAGATTTACCATGTATCAGTGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCT
CTTTTGCTATAAAATAGACTGTAGTACACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAAAAT
AAAAAATATATTTGGCTTATTTTTCGCAGGAGCAATCCTTTTATACCATGAATATTACAAAAAA
ATTGTCAGATTCTGAATATTTCTTCTTTGTAGATTTTTGGAATCATTATGAGTAAAAGTTTGTT
ACTTTATTTTACTATTTAAAAGATGTTATTTTACCATGTGTTACCAAGATGAAACTGTATGGGT
AGCTTTTTTGTTTGTTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAG
CGGGGAAATTTTTTGCGACTGTACACATAGCTGCAGCATTAAAAACTTAAAAAAATTGTTAAAA
AAAAAAAAAGGGAAAACATTTCAAAAAAAAAAAAAAAGATAAACAGTTACACCTTGTTTTCAAT
GTGTGGCTGAGTGCCTCGATTTTTTCATGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTCCAA
ACAGGTTGTGTGCTGGAGTTCCTTCAAGACAAAAACAAACCCAGCTTGGTCAAGGCCATTACCT
GTTTCCCATCTGTAGTTATTCGATGAAGTCATGTACATGACCGTTCTGTAGCAATAAATGTGCC
ATTTTTATAAACTGTTTCTGACACTTGTTTCATTTCATTTTGCATTGTCCATATAGCTATGATT
CTCTTCTGTAAGTAAAACGCATCTATATTTCATTTTCCAAGTGTTGGAGGTATTGACAGCTTAA
CAAACAAAACATACAAAAAAAATCACAAAAACAAATTGAAAAGCAAAGCACATGATTGATCAAG
GAAGAGATGCCCTTAATGAAAATGGAACGGGATGCATGCAAAACAAAAAGAAAACTGTCTAGAG
GATTAACTAATTGAAGGAATATAATTAATGTGTGTGTAACACTGAAGCTATGCATTTGAAGAGC
TCTGAACTGCACCAGTGTTTTCGGTTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTT
TGCACCAGTTGGTCGGCTGTTTGGCAGAACATTCTCAGATCTTTTCAGTCAAAAATCTAAGATG
ATTTATTTTGTATCACTTTGTTAAAAGCTGAATATTGTTAACTACAGTTAATATTAACACTGTA
TTTATACTTTCTCAAACTACATCCGCCCCACCACTTCTGGTTGCCTCTGTTGACTATTAATCCA
GATGTAAACAACCAGATGTTTTTTTCTAACTTGTACAAACTGACGTGTGTCAACTATCATGGAA
GGAAAAAAATGTACAGATTAAAATTATTCAGTGTTATGTACTGTAAGTTAATATTTTTGTAGAA
TGGACATCAATCTACTTTGCAAAATTTGGAGGCTATTTCAACATTGCACTGTAGAAATGTAAAG
TAATGTATGCAATGTAAAGGAAAGCCCGCGGTAGCTGAGCGCTTCATAACAGAATGTTCTAATC
AAGTACGTGGTATTTGGGGATGTCTCCAATATTGCTCTTGTATTCTTTCTAATTGGGTTTAGTG
ACTAGTTGAAGGAAAATGTTATAACGCCATTTGGTTCACATGTGAAGTGCCCTCCATAGCCAAA
TGTTGGGATTTTTTTTTTTTTCGTTTTTGGTTGGACTGTTTGCAGATATTTAAATTTTATGAAA
TTTCCAAAGATTTTGGTTGATAACCCCCTTTTACCTTCTAAATGATTTGAGATGTTCTTATGTT
CTTACTGTGTGTTTTAAATATATATAAAAGAGCCACAAGCATTTAGTCTTTTAGTATTATATTT
GATCATATAACTACTACTGAAAAGGGGTGGGGGGGAATGTGCCTGTGCACCCCTACAGTATCTT
GTGTAGTGTCTATTAACATTGTTCTCTTTTAGAGGACCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001348216 ⟹ NP_001335145

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,302,660 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,505,758 (-)	NCBI

Sequence:

show sequence

AGCCACAGGCCTCACAGCGGACATCTGCGGGTCTGAGTTTCATATATCCAGCATGAAGTTCCCT
CTCTCCCTCCCATTATGAATTCTGGGCTGTGGTCCTGCTTGCTCCTTGTGTGTCAGATTGAAGT
TCTGATGCTGTCAGCCATGTCTGACCAATCAGCAAACAACACCACAGGATGAAATTTAAACAAT
GCAGATGCTCAGATACAGGGCTATGTTGCCTGGACCACGAAGGGAAAGCAGAGGTCTATGCTCC
ATCAGCAAGCACTGCCGACTACAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACC
AGCACTTTCCCTAGCTCCTTCTTCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCT
CCAGTGGGATGAATCAGCCTGGCTATGCAGGAATGTTGGGCAACTCTTCTCATATTCCACAGTC
CAGCAGCTACTGTAGCCTGCATCCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGAC
ATCAATTCCAGTCTTCCTCCGATGTCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCT
CTTCCTGTACGCCTCCTGCCAACGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGC
CGGCAGCTCCCAGACTGGAGATGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCAC
ACTAACAACAGCTTTTCATCAAACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAGCAG
GCACAGCTGTTTGGTCTAGAAATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTT
ACACTCTTTGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTC
CGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCA
TTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTC
AGCCAACAGACATTCACTCATGGTGGGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGCAGC
CATTCTCTTCTGCCAAACCAGGTTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTG
ACCTGAACCCACCCCAGGACCCTTACAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGTCTC
CTCTGGCAGCTCTGAGATCAAATCCGATGACGAGGGTGATGAGAACCTGCAAGACACGAAATCT
TCGGAGGACAAGAAATTAGATGACGACAAGAAGGATATCAAATCAATTACTAGGTCAAGATCTA
GCAATAATGACGATGAGGACCTGACACCAGAGCAGAAGGCAGAGCGTGAGAAGGAGCGGAGGAT
GGCCAACAATGCCCGAGAGCGTCTGCGGGTCCGTGACATCAACGAGGCTTTCAAAGAGCTCGGC
CGCATGGTGCAGCTCCACCTCAAGAGTGACAAGCCCCAGACCAAGCTCCTGATCCTCCACCAGG
CGGTGGCCGTCATCCTCAGTCTGGAGCAGCAAGTCCGAGAAAGGAATCTGAATCCGAAAGCTGC
GTGTCTGAAAAGAAGGGAGGAAGAGAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTTGGCCGGC
CCACACCCTGGAATGGGAGACGCATCGAATCACATGGGACAGATGTAAAAGGGTCCAAGTTGCC
ACATTGCTTCATTAAAACAAGAGACCACTTCCTTAACAGCTGTATTATCTTAAACCCACATAAA
CACTTCTCCTTAACCCCCATTTTTGTAATATAAGACAAGTCTGAGTAGTTATGAATCGCAGACG
CAAGAGGTTTCAGCATTCCCAATTATCAAAAAACAGAAAAACAAAAAAAAGAAAGAAAAAAGTG
CAACTTGAGGGACGACTTTCTTTAACATATCATTCAGAATGTGCAAAGCAGTATGTACAGGCTG
AGACACAGCCCAGAGACTGAACGGCAATCTTTCCACACTGTGGAACAATGCATTTGTGCCTAAA
CTTCTTTTGGAAAAAAAAAATATAATTAATTTGTAAGTCTGAAAAAAAAATATTTAATTTAAAA
AAAATTGTAAACTTGCAATAATGAAAAAGTGTACTTCTGAAGAAAACTACATGAACGTTTTTGT
TGGTATTCAAGTCAGCTAGTGTTTATAATTACTGGATATTGAATTAGGGGAAGCTCGGCTGCCC
TAGTAACAAAACCAGCAAACGTCCTGATGACAACGAAGTGATGACATTAGCCATTCCTTAGGGT
AGGAGGAACAGATGGATCTTATAGACCTATGACAAATATATATATAAATATATATATAAATATA
TATTAAAAATTTAGTGACTATGGTAAGCTTTTGTTCATTTGTTTCAGACTTTTTTCTCCTGTAA
AAAAATAGTACTGATTAACTTTTTTAAAAGAAAGATTTTACTGTAAATATGGATTTTTTTTTTT
TTGGTCTTATTTCTGTCCCTTTCCCTGGTTTGTTATCGTAACCTGTAGTGCCAACTCTGCTTCC
AGAGGGGTAGTGCAGGATGAAATGCTGACCCTGATGTTGCTTCTCATTCATAAATAAGTAGAAA
GTTGTTTCTCCAGTCTTTTGGGAACACAGGACTTAAAAGTCACATCATGTGTAGATATTACAAG
CAGCATTACCAAGACATGGCAAAAAGAGTTTGTCTGAATTGTAATGTTGCGTTTGTGAACCTAT
TCTGGGATTTTCAGAGGTACAAGGTTAGAATGCTACAATGTTACCACTGTGCCTTCCAATGTTT
ATATCATCGGAAACATAACATAATCAAAGTGGCTGTGATTTAACAAAATGATTAAAGTGTTACC
TACCTGTGTAGCCGAAGTAGTGTGCAGTGAGGCGTTTCTGAATACATGGTCAGATTTTTGGAAA
AAAACAAAAACAAAAAAAACAAGTAAAGTTCAAAAACCGTCAAATGAGAAAATTGCAAGTAGTG
TGACAGAGCTGATTGATTTTGTTGCTTTCTTGATTTTTTTTTTCAAAATGGGTTTACTAAAATG
TAGATGACTTAACTGCCTCCTCCTTCGTCTGAAAAATGCCAATATTCAATCATCATGCAGCATT
ATAACAAGCCTTATAAGTCCTAAAGCATTAAGTTGCACTTTTTTGAGGAGGGGTAGTGCAGTAT
TTCTCTGGCCAGTATGAATGAAGTTTATACTTACCATATTTGATAGAAACATAGATCAAGCTAT
GGCACAGCGACTCATCAGATAGCTAGCTTTGACGTCTGGGCACAATTGAACCAACTTCCATCGT
GAATCTTTATAATGATTGACTTTGGTGTATAGTGCAGTAAACAAATAGTGCTCCTAGTTAAGTA
TTTGTCAGCATCCTTTTGTCTCTAACTTGTTTCTATTTTTACAGCCACACAATTCTTGGCATGT
ATTAAGAAAAAAAAAAATCCCTGTTCAAGTAGTTTTTCCACCTATCAGCACTGAGTAAATGCCA
TAAATCCATTGAAATGGTCTAAATGTTCCATCTGTTCTCCTGTTTTGCCAGTTATATAGTAATG
AAATACATTTGTAAATTTTATGCAACAAATGGCAAACGTATCATTATTTTGAAATTGTGTATGT
AAAAGTTATATTTTTACATGTAGACTCTTGTTATTATGTGTTTTAATACATTGTATCAGTTTTT
GTTTTTTTTTAAAAACTGTGGTTTAAAAAGAAGTCTCATTTAAATGAAATAGCTACAAGAATCA
GAATTTTATGTTCATTTCTGAAAATGTAAGAACAAATAAGATAGTTACCACGTGGTCATCTTTT
ACAAACCCATAAACATTTTGATTAGCTGTGTGTGTGTTGAAAAACTGTAAATATGTTCAGTAGC
GATAAAACTAAAATAACTTTGATTTGTTGATAAGTTCCTAAAATGTGGAGGTGGATTAAAACCT
TAGGAGAATAGCAGAAATCAAACTTCATGAAAAGTTATTTTGGGGCTTTCCTGTGAAATGTATG
AACAAAGAGGCTCAGAGAAGGACATGGAAGACAATAATGTATACTCTCTCCTCCTCCCTGAATA
ATGAAAACCATGTGTATTTGTTCCCTCCGTATGTTAAAGATTTCCTTTTAGTGGTACATTCTGC
ACTCATTTTGTATAGTCTACCAAGGCGGGTATCCCTAGGAACAATATTATATAGGAAGCAGGTA
TACTCTGATCACATTCAGGATAAGTGTACAGAAGAAAATACGGTGTTTACTCTTTAGGGAACTG
GAAACACTCCCTGCATTGATGTACATTTTAAGAATGGCACTTTTGATACATGTTATCATAAAGG
TGCTTAATAGAGCTGAATTAAAGTTTTTCAAATCTGTAAACAAAGCAAAAAAGTAAATTGTAGT
CATTTGATTATTTTTTAAATTGGTGCTTTATATTTTGTTCTCACTCAGAGTAAAAGCTGCAATT
TATTGTTCACCAGCTTTGATGTATTCATTACTCAGTAATGCAATACCTCTATTGTTGAATTCCC
TTTGGAAATAAGTGAAAATTCTAACGGCCACTGAAAGCTGCTCGCTAGGTTTTGCTTGGTGGAG
AAACATAATCTGCACCTATCCATATTAATTGGGTTGTATCCCCATTAAAAAAGAAAAAAAGGGA
ATGTGGCCTTTTTAGTGTGTTTTTTATTGTTGTTGTTTTGTAATTATCAAACCCAGGTAAGATA
TTGGTATCCTGCACTGGATTTTCAAATGAAGTTCAGCAGAAGACAGTTAAGATTAAAGTACTAT
ACAAAAATTTCAAAAGGGTCCATACTACGCTATCTGTATGACGACACTTAGGCTGGGGATCTCT
TTCAGAAACTCGGACTTTAAAAGCAACTTGGAGCAGTTGATCCACCTCCACATTCAAGTAATTT
ATGAATATGCAGAATAGGGATCTGTTCATCTAGAAATTTTTACCATTTGTCTTCTGTGTAGCTG
CAAGGAACACTAATGTTTATACAACTGTCAGTCCACCCAGTGGTGCAACTGGTTCTGATTCAGT
CTTCCGATTCCTTTTTATTTTTCACTTTTTCCTATTTCTGAATTTTTTTTTTTATTTGTGATCT
TGATTTTGATGAGGGGTTGGGGAGTGGGGAGGGAGTCGAACCAAGACTTGGAGTTAAGAGGATT
TTCATCTTTTGCATCCAACAGGCAGAATATGATCTGTGTCCAAAAGTGAACTTGAGTCAGGAAT
GAATCAATTTCAGCATAAACAAGCACAAAAATTTAGTCTGCTGGCTGACTGGAAGCAAAAAAGT
CAAGATGGAATATGATGAATTCCAACACAATGGGGCACCAAGGCCTTTAGGCCTCTCTTTTTAT
TTTGCTTTGGTTTTGTTTGTTTTTCTTTAGAGACATGCTCTTTCTCATGGGACTTGAAGTGGAC
TCATCTTTGTGCAGTGCTGGTTTTGCCATACTCATTTCAAGTATTATAGACATATGTAATGGTG
AAAATATATGAACTGTGGCCTTTTTCATTCTTGTTACTTGTGATGCAATTAAGTGAAGATAAGA
AAAAAAAAAAAAAAGCAGAGATTTACCATGTATCAGTGCCTGGCTTTTTGTTATAAAGCTTTGT
TTGTCTAGTGCTCTTTTGCTATAAAATAGACTGTAGTACACCCTAGTAGGAAAAAAAAAAAACT
AAATTTAAAAATAAAAAATATATTTGGCTTATTTTTCGCAGGAGCAATCCTTTTATACCATGAA
TATTACAAAAAAATTGTCAGATTCTGAATATTTCTTCTTTGTAGATTTTTGGAATCATTATGAG
TAAAAGTTTGTTACTTTATTTTACTATTTAAAAGATGTTATTTTACCATGTGTTACCAAGATGA
AACTGTATGGGTAGCTTTTTTGTTTGTTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTAGT
TGTAGGTCGCAGCGGGGAAATTTTTTGCGACTGTACACATAGCTGCAGCATTAAAAACTTAAAA
AAATTGTTAAAAAAAAAAAAAGGGAAAACATTTCAAAAAAAAAAAAAAAGATAAACAGTTACAC
CTTGTTTTCAATGTGTGGCTGAGTGCCTCGATTTTTTCATGTTTTTGGTGTATTTCTGATTTGT
AGAAGTGTCCAAACAGGTTGTGTGCTGGAGTTCCTTCAAGACAAAAACAAACCCAGCTTGGTCA
AGGCCATTACCTGTTTCCCATCTGTAGTTATTCGATGAAGTCATGTACATGACCGTTCTGTAGC
AATAAATGTGCCATTTTTATAAACTGTTTCTGACACTTGTTTCATTTCATTTTGCATTGTCCAT
ATAGCTATGATTCTCTTCTGTAAGTAAAACGCATCTATATTTCATTTTCCAAGTGTTGGAGGTA
TTGACAGCTTAACAAACAAAACATACAAAAAAAATCACAAAAACAAATTGAAAAGCAAAGCACA
TGATTGATCAAGGAAGAGATGCCCTTAATGAAAATGGAACGGGATGCATGCAAAACAAAAAGAA
AACTGTCTAGAGGATTAACTAATTGAAGGAATATAATTAATGTGTGTGTAACACTGAAGCTATG
CATTTGAAGAGCTCTGAACTGCACCAGTGTTTTCGGTTGTGCTGCAGGTTGCTAAGTCAAGTCA
GCCTTAACCTTTTGCACCAGTTGGTCGGCTGTTTGGCAGAACATTCTCAGATCTTTTCAGTCAA
AAATCTAAGATGATTTATTTTGTATCACTTTGTTAAAAGCTGAATATTGTTAACTACAGTTAAT
ATTAACACTGTATTTATACTTTCTCAAACTACATCCGCCCCACCACTTCTGGTTGCCTCTGTTG
ACTATTAATCCAGATGTAAACAACCAGATGTTTTTTTCTAACTTGTACAAACTGACGTGTGTCA
ACTATCATGGAAGGAAAAAAATGTACAGATTAAAATTATTCAGTGTTATGTACTGTAAGTTAAT
ATTTTTGTAGAATGGACATCAATCTACTTTGCAAAATTTGGAGGCTATTTCAACATTGCACTGT
AGAAATGTAAAGTAATGTATGCAATGTAAAGGAAAGCCCGCGGTAGCTGAGCGCTTCATAACAG
AATGTTCTAATCAAGTACGTGGTATTTGGGGATGTCTCCAATATTGCTCTTGTATTCTTTCTAA
TTGGGTTTAGTGACTAGTTGAAGGAAAATGTTATAACGCCATTTGGTTCACATGTGAAGTGCCC
TCCATAGCCAAATGTTGGGATTTTTTTTTTTTTCGTTTTTGGTTGGACTGTTTGCAGATATTTA
AATTTTATGAAATTTCCAAAGATTTTGGTTGATAACCCCCTTTTACCTTCTAAATGATTTGAGA
TGTTCTTATGTTCTTACTGTGTGTTTTAAATATATATAAAAGAGCCACAAGCATTTAGTCTTTT
AGTATTATATTTGATCATATAACTACTACTGAAAAGGGGTGGGGGGGAATGTGCCTGTGCACCC
CTACAGTATCTTGTGTAGTGTCTATTAACATTGTTCTCTTTTAGAGGACCACATTAAAAGGTAC
ATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001348217 ⟹ NP_001335146

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,331 - 55,586,119 (-)	NCBI
T2T-CHM13v2.0	18	55,425,420 - 55,789,199 (-)	NCBI

Sequence:

show sequence

CTCTTCTAGACCTTCTTTTGGAGAAATGGCTTTCGGAAGTTTTGCCAGGAAACGTAGCCCTAGG
CAGGCAGCTTTGCAGCCCCCTTTCTGCTTGTTGCACTTTCTCCATTCGTTCCTTTGCTTTTTGC
AGGCTCTGACTCAGGGAAGGTGTGCATTATCCACTAGATACGTCGAAGAAGAGGGAAACCAATT
AGGGTCGAAATAAATGCTGGAGAGAGAGGGAGTGAAAGAGAGAGTGAGAGTGAGAGAGAGAGAG
AGTCTTGCTTCAAATTGCTCTCCTGTTAGAGACGAAATGAGAATTTAGTGCAGATGTTTTCACC
TCCTGTGAGCAGTGGGAAAAATGGACCAACTTCTTTGGCAAGTGGACATTTTACTGGCTCAAAT
GTAGAAGACAGAAGTAGCTCAGGGTCCTGGGGGAATGGAGGACATCCAAGCCCGTCCAGGAACT
ATGGAGATGGGACTCCCTATGACCACATGACCAGCAGGGACCTTGGGTCACATGACAATCTCTC
TCCACCTTTTGTCAATTCCAGAATACAAAGTAAAACAGAAAGGGGCTCATACTCATCTTATGGG
AGAGAATCAAACTTACAGGGTTGCCACCAGCAGAGTCTCCTTGGAGGTGACATGGATATGGGCA
ACCCAGGAACCCTTTCGCCCACCAAACCTGGTTCCCAGTACTATCAGTATTCTAGCAATAATCC
CCGAAGGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGACAAAGAAAGTTCGAAAAGTTCCT
CCAGGTTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCACTGCCGACTACAATAGGGACTCGC
CAGGCTATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCTAGCTCCTTCTTCATGCAAGATGG
CCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTGGCTATGCAGGAATG
TTGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCATCCACATGAACGTT
TGAGCTATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCGATGTCCACTTTCCA
TCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCCAACGGGACAGACAGT
ATAATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCAGACTGGAGATGCTCTGGGGAAAG
CACTTGCTTCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATCAAACCCTTCAACTCC
TGTTGGCTCTCCTCCATCTCTCTCAGCAGGCACAGCTGTTTGGTCTAGAAATGGAGGACAGGCC
TCATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCGAATTGAAGATCGTTTAG
AAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCC
TGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTG
GGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTGGGGACCCATC
GTGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTGCCAAACCAGGTTCCGGTTCCACA
GCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCACCCCAGGACCCTTACAGAGGCATG
CCACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTCTGAGATCAAATCCGATGACGAGG
GTGATGAGAACCTGCAAGACACGAAATCTTCGGAGGACAAGAAATTAGATGACGACAAGAAGGA
TATCAAATCAATTACTAGGTCAAGATCTAGCAATAATGACGATGAGGACCTGACACCAGAGCAG
AAGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCGTCTGCGGGTCCGTG
ACATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCTCAAGAGTGACAAGCC
CCAGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAGTCTGGAGCAGCAAGTC
CGAGAAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGGAAGAGAAGGTGTCCT
CAGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGAATGGGAGACGCATCGAATCACAT
GGGACAGATGTAAAAGGGTCCAAGTTGCCACATTGCTTCATTAAAACAAGAGACCACTTCCTTA
ACAGCTGTATTATCTTAAACCCACATAAACACTTCTCCTTAACCCCCATTTTTGTAATATAAGA
CAAGTCTGAGTAGTTATGAATCGCAGACGCAAGAGGTTTCAGCATTCCCAATTATCAAAAAACA
GAAAAACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGACGACTTTCTTTAACATATCATTC
AGAATGTGCAAAGCAGTATGTACAGGCTGAGACACAGCCCAGAGACTGAACGGCAATCTTTCCA
CACTGTGGAACAATGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAAAATATAATTAATTTGTA
AGTCTGAAAAAAAAATATTTAATTTAAAAAAAATTGTAAACTTGCAATAATGAAAAAGTGTACT
TCTGAAGAAAACTACATGAACGTTTTTGTTGGTATTCAAGTCAGCTAGTGTTTATAATTACTGG
ATATTGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAAACGTCCTGATGACAACG
AAGTGATGACATTAGCCATTCCTTAGGGTAGGAGGAACAGATGGATCTTATAGACCTATGACAA
ATATATATATAAATATATATATAAATATATATTAAAAATTTAGTGACTATGGTAAGCTTTTGTT
CATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGTACTGATTAACTTTTTTAAAAGAAAGA
TTTTACTGTAAATATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCCCTTTCCCTGGTTTGTTA
TCGTAACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGATGAAATGCTGACCCTGAT
GTTGCTTCTCATTCATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTTGGGAACACAGGACTTA
AAAGTCACATCATGTGTAGATATTACAAGCAGCATTACCAAGACATGGCAAAAAGAGTTTGTCT
GAATTGTAATGTTGCGTTTGTGAACCTATTCTGGGATTTTCAGAGGTACAAGGTTAGAATGCTA
CAATGTTACCACTGTGCCTTCCAATGTTTATATCATCGGAAACATAACATAATCAAAGTGGCTG
TGATTTAACAAAATGATTAAAGTGTTACCTACCTGTGTAGCCGAAGTAGTGTGCAGTGAGGCGT
TTCTGAATACATGGTCAGATTTTTGGAAAAAAACAAAAACAAAAAAAACAAGTAAAGTTCAAAA
ACCGTCAAATGAGAAAATTGCAAGTAGTGTGACAGAGCTGATTGATTTTGTTGCTTTCTTGATT
TTTTTTTTCAAAATGGGTTTACTAAAATGTAGATGACTTAACTGCCTCCTCCTTCGTCTGAAAA
ATGCCAATATTCAATCATCATGCAGCATTATAACAAGCCTTATAAGTCCTAAAGCATTAAGTTG
CACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAATGAAGTTTATACTTACC
ATATTTGATAGAAACATAGATCAAGCTATGGCACAGCGACTCATCAGATAGCTAGCTTTGACGT
CTGGGCACAATTGAACCAACTTCCATCGTGAATCTTTATAATGATTGACTTTGGTGTATAGTGC
AGTAAACAAATAGTGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTGTCTCTAACTTGTTTCTA
TTTTTACAGCCACACAATTCTTGGCATGTATTAAGAAAAAAAAAAATCCCTGTTCAAGTAGTTT
TTCCACCTATCAGCACTGAGTAAATGCCATAAATCCATTGAAATGGTCTAAATGTTCCATCTGT
TCTCCTGTTTTGCCAGTTATATAGTAATGAAATACATTTGTAAATTTTATGCAACAAATGGCAA
ACGTATCATTATTTTGAAATTGTGTATGTAAAAGTTATATTTTTACATGTAGACTCTTGTTATT
ATGTGTTTTAATACATTGTATCAGTTTTTGTTTTTTTTTAAAAACTGTGGTTTAAAAAGAAGTC
TCATTTAAATGAAATAGCTACAAGAATCAGAATTTTATGTTCATTTCTGAAAATGTAAGAACAA
ATAAGATAGTTACCACGTGGTCATCTTTTACAAACCCATAAACATTTTGATTAGCTGTGTGTGT
GTTGAAAAACTGTAAATATGTTCAGTAGCGATAAAACTAAAATAACTTTGATTTGTTGATAAGT
TCCTAAAATGTGGAGGTGGATTAAAACCTTAGGAGAATAGCAGAAATCAAACTTCATGAAAAGT
TATTTTGGGGCTTTCCTGTGAAATGTATGAACAAAGAGGCTCAGAGAAGGACATGGAAGACAAT
AATGTATACTCTCTCCTCCTCCCTGAATAATGAAAACCATGTGTATTTGTTCCCTCCGTATGTT
AAAGATTTCCTTTTAGTGGTACATTCTGCACTCATTTTGTATAGTCTACCAAGGCGGGTATCCC
TAGGAACAATATTATATAGGAAGCAGGTATACTCTGATCACATTCAGGATAAGTGTACAGAAGA
AAATACGGTGTTTACTCTTTAGGGAACTGGAAACACTCCCTGCATTGATGTACATTTTAAGAAT
GGCACTTTTGATACATGTTATCATAAAGGTGCTTAATAGAGCTGAATTAAAGTTTTTCAAATCT
GTAAACAAAGCAAAAAAGTAAATTGTAGTCATTTGATTATTTTTTAAATTGGTGCTTTATATTT
TGTTCTCACTCAGAGTAAAAGCTGCAATTTATTGTTCACCAGCTTTGATGTATTCATTACTCAG
TAATGCAATACCTCTATTGTTGAATTCCCTTTGGAAATAAGTGAAAATTCTAACGGCCACTGAA
AGCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACATAATCTGCACCTATCCATATTAATTGGGTT
GTATCCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTGTTTTTTATTGTTGTTG
TTTTGTAATTATCAAACCCAGGTAAGATATTGGTATCCTGCACTGGATTTTCAAATGAAGTTCA
GCAGAAGACAGTTAAGATTAAAGTACTATACAAAAATTTCAAAAGGGTCCATACTACGCTATCT
GTATGACGACACTTAGGCTGGGGATCTCTTTCAGAAACTCGGACTTTAAAAGCAACTTGGAGCA
GTTGATCCACCTCCACATTCAAGTAATTTATGAATATGCAGAATAGGGATCTGTTCATCTAGAA
ATTTTTACCATTTGTCTTCTGTGTAGCTGCAAGGAACACTAATGTTTATACAACTGTCAGTCCA
CCCAGTGGTGCAACTGGTTCTGATTCAGTCTTCCGATTCCTTTTTATTTTTCACTTTTTCCTAT
TTCTGAATTTTTTTTTTTATTTGTGATCTTGATTTTGATGAGGGGTTGGGGAGTGGGGAGGGAG
TCGAACCAAGACTTGGAGTTAAGAGGATTTTCATCTTTTGCATCCAACAGGCAGAATATGATCT
GTGTCCAAAAGTGAACTTGAGTCAGGAATGAATCAATTTCAGCATAAACAAGCACAAAAATTTA
GTCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGAATATGATGAATTCCAACACAATGGGG
CACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTGTTTTTCTTTAGAGACA
TGCTCTTTCTCATGGGACTTGAAGTGGACTCATCTTTGTGCAGTGCTGGTTTTGCCATACTCAT
TTCAAGTATTATAGACATATGTAATGGTGAAAATATATGAACTGTGGCCTTTTTCATTCTTGTT
ACTTGTGATGCAATTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGAGATTTACCATGTATCA
GTGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCTATAAAATAGACTGTA
GTACACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAAAATAAAAAATATATTTGGCTTATTTT
TCGCAGGAGCAATCCTTTTATACCATGAATATTACAAAAAAATTGTCAGATTCTGAATATTTCT
TCTTTGTAGATTTTTGGAATCATTATGAGTAAAAGTTTGTTACTTTATTTTACTATTTAAAAGA
TGTTATTTTACCATGTGTTACCAAGATGAAACTGTATGGGTAGCTTTTTTGTTTGTTTTTTGTT
TTGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAATTTTTTGCGACTGTA
CACATAGCTGCAGCATTAAAAACTTAAAAAAATTGTTAAAAAAAAAAAAAGGGAAAACATTTCA
AAAAAAAAAAAAAAGATAAACAGTTACACCTTGTTTTCAATGTGTGGCTGAGTGCCTCGATTTT
TTCATGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTCCAAACAGGTTGTGTGCTGGAGTTCCT
TCAAGACAAAAACAAACCCAGCTTGGTCAAGGCCATTACCTGTTTCCCATCTGTAGTTATTCGA
TGAAGTCATGTACATGACCGTTCTGTAGCAATAAATGTGCCATTTTTATAAACTGTTTCTGACA
CTTGTTTCATTTCATTTTGCATTGTCCATATAGCTATGATTCTCTTCTGTAAGTAAAACGCATC
TATATTTCATTTTCCAAGTGTTGGAGGTATTGACAGCTTAACAAACAAAACATACAAAAAAAAT
CACAAAAACAAATTGAAAAGCAAAGCACATGATTGATCAAGGAAGAGATGCCCTTAATGAAAAT
GGAACGGGATGCATGCAAAACAAAAAGAAAACTGTCTAGAGGATTAACTAATTGAAGGAATATA
ATTAATGTGTGTGTAACACTGAAGCTATGCATTTGAAGAGCTCTGAACTGCACCAGTGTTTTCG
GTTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACCAGTTGGTCGGCTGTTTG
GCAGAACATTCTCAGATCTTTTCAGTCAAAAATCTAAGATGATTTATTTTGTATCACTTTGTTA
AAAGCTGAATATTGTTAACTACAGTTAATATTAACACTGTATTTATACTTTCTCAAACTACATC
CGCCCCACCACTTCTGGTTGCCTCTGTTGACTATTAATCCAGATGTAAACAACCAGATGTTTTT
TTCTAACTTGTACAAACTGACGTGTGTCAACTATCATGGAAGGAAAAAAATGTACAGATTAAAA
TTATTCAGTGTTATGTACTGTAAGTTAATATTTTTGTAGAATGGACATCAATCTACTTTGCAAA
ATTTGGAGGCTATTTCAACATTGCACTGTAGAAATGTAAAGTAATGTATGCAATGTAAAGGAAA
GCCCGCGGTAGCTGAGCGCTTCATAACAGAATGTTCTAATCAAGTACGTGGTATTTGGGGATGT
CTCCAATATTGCTCTTGTATTCTTTCTAATTGGGTTTAGTGACTAGTTGAAGGAAAATGTTATA
ACGCCATTTGGTTCACATGTGAAGTGCCCTCCATAGCCAAATGTTGGGATTTTTTTTTTTTTCG
TTTTTGGTTGGACTGTTTGCAGATATTTAAATTTTATGAAATTTCCAAAGATTTTGGTTGATAA
CCCCCTTTTACCTTCTAAATGATTTGAGATGTTCTTATGTTCTTACTGTGTGTTTTAAATATAT
ATAAAAGAGCCACAAGCATTT

hide sequence

RefSeq Acc Id:

NM_001348218 ⟹ NP_001335147

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,586,122 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,789,202 (-)	NCBI

Sequence:

show sequence

CTCCTCTTCTAGACCTTCTTTTGGAGAAATGGCTTTCGGAAGTTTTGCCAGGAAACGTAGCCCT
AGGCAGGCAGCTTTGCAGCCCCCTTTCTGCTTGTTGCACTTTCTCCATTCGTTCCTTTGCTTTT
TGCAGGCTCTGACTCAGGGAAGATGTTTTCACCTCCTGTGAGCAGTGGGAAAAATGGACCAACT
TCTTTGGCAAGTGGACATTTTACTGGCTCAAATGTAGAAGACAGAAGTAGCTCAGGGTCCTGGG
GGAATGGAGGACATCCAAGCCCGTCCAGGAACTATGGAGATGGGACTCCCTATGACCACATGAC
CAGCAGGGACCTTGGGTCACATGACAATCTCTCTCCACCTTTTGTCAATTCCAGAATACAAAGT
AAAACAGAAAGGGGCTCATACTCATCTTATGGGAGAGAATCAAACTTACAGGGTTGCCACCAGC
AGAGTCTCCTTGGAGGTGACATGGATATGGGCAACCCAGGAACCCTTTCGCCCACCAAACCTGG
TTCCCAGTACTATCAGTATTCTAGCAATAATCCCCGAAGGAGGCCTCTTCACAGTAGTGCCATG
GAGGTACAGACAAAGAAAGTTCGAAAAGTTCCTCCAGGTTTGCCATCTTCAGTCTATGCTCCAT
CAGCAAGCACTGCCGACTACAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACCAG
CACTTTCCCTAGCTCCTTCTTCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCTCC
AGTGGGATGAATCAGCCTGGCTATGCAGGAATGTTGGGCAACTCTTCTCATATTCCACAGTCCA
GCAGCTACTGTAGCCTGCATCCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGACAT
CAATTCCAGTCTTCCTCCGATGTCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCTCT
TCCTGTACGCCTCCTGCCAACGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGCCG
GCAGCTCCCAGACTGGAGATGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCACAC
TAACAACAGCTTTTCATCAAACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAGCAGGC
ACAGCTGTTTGGTCTAGAAATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTTAC
ACTCTTTGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCG
GAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATT
GGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAG
CCAACAGACATTCACTCATGGTGGGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGCAGCCA
TTCTCTTCTGCCAAACCAGGTTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTGAC
CTGAACCCACCCCAGGACCCTTACAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGTCTCCT
CTGGCAGCTCTGAGATCAAATCCGATGACGAGGGTGATGAGAACCTGCAAGACACGAAATCTTC
GGAGGACAAGAAATTAGATGACGACAAGAAGGATATCAAATCAATTACTAGGTCAAGATCTAGC
AATAATGACGATGAGGACCTGACACCAGAGCAGAAGGCAGAGCGTGAGAAGGAGCGGAGGATGG
CCAACAATGCCCGAGAGCGTCTGCGGGTCCGTGACATCAACGAGGCTTTCAAAGAGCTCGGCCG
CATGGTGCAGCTCCACCTCAAGAGTGACAAGCCCCAGACCAAGCTCCTGATCCTCCACCAGGCG
GTGGCCGTCATCCTCAGTCTGGAGCAGCAAGTCCGAGAAAGGAATCTGAATCCGAAAGCTGCGT
GTCTGAAAAGAAGGGAGGAAGAGAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTTGGCCGGCCC
ACACCCTGGAATGGGAGACGCATCGAATCACATGGGACAGATGTAAAAGGGTCCAAGTTGCCAC
ATTGCTTCATTAAAACAAGAGACCACTTCCTTAACAGCTGTATTATCTTAAACCCACATAAACA
CTTCTCCTTAACCCCCATTTTTGTAATATAAGACAAGTCTGAGTAGTTATGAATCGCAGACGCA
AGAGGTTTCAGCATTCCCAATTATCAAAAAACAGAAAAACAAAAAAAAGAAAGAAAAAAGTGCA
ACTTGAGGGACGACTTTCTTTAACATATCATTCAGAATGTGCAAAGCAGTATGTACAGGCTGAG
ACACAGCCCAGAGACTGAACGGCAATCTTTCCACACTGTGGAACAATGCATTTGTGCCTAAACT
TCTTTTGGAAAAAAAAAATATAATTAATTTGTAAGTCTGAAAAAAAAATATTTAATTTAAAAAA
AATTGTAAACTTGCAATAATGAAAAAGTGTACTTCTGAAGAAAACTACATGAACGTTTTTGTTG
GTATTCAAGTCAGCTAGTGTTTATAATTACTGGATATTGAATTAGGGGAAGCTCGGCTGCCCTA
GTAACAAAACCAGCAAACGTCCTGATGACAACGAAGTGATGACATTAGCCATTCCTTAGGGTAG
GAGGAACAGATGGATCTTATAGACCTATGACAAATATATATATAAATATATATATAAATATATA
TTAAAAATTTAGTGACTATGGTAAGCTTTTGTTCATTTGTTTCAGACTTTTTTCTCCTGTAAAA
AAATAGTACTGATTAACTTTTTTAAAAGAAAGATTTTACTGTAAATATGGATTTTTTTTTTTTT
GGTCTTATTTCTGTCCCTTTCCCTGGTTTGTTATCGTAACCTGTAGTGCCAACTCTGCTTCCAG
AGGGGTAGTGCAGGATGAAATGCTGACCCTGATGTTGCTTCTCATTCATAAATAAGTAGAAAGT
TGTTTCTCCAGTCTTTTGGGAACACAGGACTTAAAAGTCACATCATGTGTAGATATTACAAGCA
GCATTACCAAGACATGGCAAAAAGAGTTTGTCTGAATTGTAATGTTGCGTTTGTGAACCTATTC
TGGGATTTTCAGAGGTACAAGGTTAGAATGCTACAATGTTACCACTGTGCCTTCCAATGTTTAT
ATCATCGGAAACATAACATAATCAAAGTGGCTGTGATTTAACAAAATGATTAAAGTGTTACCTA
CCTGTGTAGCCGAAGTAGTGTGCAGTGAGGCGTTTCTGAATACATGGTCAGATTTTTGGAAAAA
AACAAAAACAAAAAAAACAAGTAAAGTTCAAAAACCGTCAAATGAGAAAATTGCAAGTAGTGTG
ACAGAGCTGATTGATTTTGTTGCTTTCTTGATTTTTTTTTTCAAAATGGGTTTACTAAAATGTA
GATGACTTAACTGCCTCCTCCTTCGTCTGAAAAATGCCAATATTCAATCATCATGCAGCATTAT
AACAAGCCTTATAAGTCCTAAAGCATTAAGTTGCACTTTTTTGAGGAGGGGTAGTGCAGTATTT
CTCTGGCCAGTATGAATGAAGTTTATACTTACCATATTTGATAGAAACATAGATCAAGCTATGG
CACAGCGACTCATCAGATAGCTAGCTTTGACGTCTGGGCACAATTGAACCAACTTCCATCGTGA
ATCTTTATAATGATTGACTTTGGTGTATAGTGCAGTAAACAAATAGTGCTCCTAGTTAAGTATT
TGTCAGCATCCTTTTGTCTCTAACTTGTTTCTATTTTTACAGCCACACAATTCTTGGCATGTAT
TAAGAAAAAAAAAAATCCCTGTTCAAGTAGTTTTTCCACCTATCAGCACTGAGTAAATGCCATA
AATCCATTGAAATGGTCTAAATGTTCCATCTGTTCTCCTGTTTTGCCAGTTATATAGTAATGAA
ATACATTTGTAAATTTTATGCAACAAATGGCAAACGTATCATTATTTTGAAATTGTGTATGTAA
AAGTTATATTTTTACATGTAGACTCTTGTTATTATGTGTTTTAATACATTGTATCAGTTTTTGT
TTTTTTTTAAAAACTGTGGTTTAAAAAGAAGTCTCATTTAAATGAAATAGCTACAAGAATCAGA
ATTTTATGTTCATTTCTGAAAATGTAAGAACAAATAAGATAGTTACCACGTGGTCATCTTTTAC
AAACCCATAAACATTTTGATTAGCTGTGTGTGTGTTGAAAAACTGTAAATATGTTCAGTAGCGA
TAAAACTAAAATAACTTTGATTTGTTGATAAGTTCCTAAAATGTGGAGGTGGATTAAAACCTTA
GGAGAATAGCAGAAATCAAACTTCATGAAAAGTTATTTTGGGGCTTTCCTGTGAAATGTATGAA
CAAAGAGGCTCAGAGAAGGACATGGAAGACAATAATGTATACTCTCTCCTCCTCCCTGAATAAT
GAAAACCATGTGTATTTGTTCCCTCCGTATGTTAAAGATTTCCTTTTAGTGGTACATTCTGCAC
TCATTTTGTATAGTCTACCAAGGCGGGTATCCCTAGGAACAATATTATATAGGAAGCAGGTATA
CTCTGATCACATTCAGGATAAGTGTACAGAAGAAAATACGGTGTTTACTCTTTAGGGAACTGGA
AACACTCCCTGCATTGATGTACATTTTAAGAATGGCACTTTTGATACATGTTATCATAAAGGTG
CTTAATAGAGCTGAATTAAAGTTTTTCAAATCTGTAAACAAAGCAAAAAAGTAAATTGTAGTCA
TTTGATTATTTTTTAAATTGGTGCTTTATATTTTGTTCTCACTCAGAGTAAAAGCTGCAATTTA
TTGTTCACCAGCTTTGATGTATTCATTACTCAGTAATGCAATACCTCTATTGTTGAATTCCCTT
TGGAAATAAGTGAAAATTCTAACGGCCACTGAAAGCTGCTCGCTAGGTTTTGCTTGGTGGAGAA
ACATAATCTGCACCTATCCATATTAATTGGGTTGTATCCCCATTAAAAAAGAAAAAAAGGGAAT
GTGGCCTTTTTAGTGTGTTTTTTATTGTTGTTGTTTTGTAATTATCAAACCCAGGTAAGATATT
GGTATCCTGCACTGGATTTTCAAATGAAGTTCAGCAGAAGACAGTTAAGATTAAAGTACTATAC
AAAAATTTCAAAAGGGTCCATACTACGCTATCTGTATGACGACACTTAGGCTGGGGATCTCTTT
CAGAAACTCGGACTTTAAAAGCAACTTGGAGCAGTTGATCCACCTCCACATTCAAGTAATTTAT
GAATATGCAGAATAGGGATCTGTTCATCTAGAAATTTTTACCATTTGTCTTCTGTGTAGCTGCA
AGGAACACTAATGTTTATACAACTGTCAGTCCACCCAGTGGTGCAACTGGTTCTGATTCAGTCT
TCCGATTCCTTTTTATTTTTCACTTTTTCCTATTTCTGAATTTTTTTTTTTATTTGTGATCTTG
ATTTTGATGAGGGGTTGGGGAGTGGGGAGGGAGTCGAACCAAGACTTGGAGTTAAGAGGATTTT
CATCTTTTGCATCCAACAGGCAGAATATGATCTGTGTCCAAAAGTGAACTTGAGTCAGGAATGA
ATCAATTTCAGCATAAACAAGCACAAAAATTTAGTCTGCTGGCTGACTGGAAGCAAAAAAGTCA
AGATGGAATATGATGAATTCCAACACAATGGGGCACCAAGGCCTTTAGGCCTCTCTTTTTATTT
TGCTTTGGTTTTGTTTGTTTTTCTTTAGAGACATGCTCTTTCTCATGGGACTTGAAGTGGACTC
ATCTTTGTGCAGTGCTGGTTTTGCCATACTCATTTCAAGTATTATAGACATATGTAATGGTGAA
AATATATGAACTGTGGCCTTTTTCATTCTTGTTACTTGTGATGCAATTAAGTGAAGATAAGAAA
AAAAAAAAAAAAGCAGAGATTTACCATGTATCAGTGCCTGGCTTTTTGTTATAAAGCTTTGTTT
GTCTAGTGCTCTTTTGCTATAAAATAGACTGTAGTACACCCTAGTAGGAAAAAAAAAAAACTAA
ATTTAAAAATAAAAAATATATTTGGCTTATTTTTCGCAGGAGCAATCCTTTTATACCATGAATA
TTACAAAAAAATTGTCAGATTCTGAATATTTCTTCTTTGTAGATTTTTGGAATCATTATGAGTA
AAAGTTTGTTACTTTATTTTACTATTTAAAAGATGTTATTTTACCATGTGTTACCAAGATGAAA
CTGTATGGGTAGCTTTTTTGTTTGTTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTAGTTG
TAGGTCGCAGCGGGGAAATTTTTTGCGACTGTACACATAGCTGCAGCATTAAAAACTTAAAAAA
ATTGTTAAAAAAAAAAAAAGGGAAAACATTTCAAAAAAAAAAAAAAAGATAAACAGTTACACCT
TGTTTTCAATGTGTGGCTGAGTGCCTCGATTTTTTCATGTTTTTGGTGTATTTCTGATTTGTAG
AAGTGTCCAAACAGGTTGTGTGCTGGAGTTCCTTCAAGACAAAAACAAACCCAGCTTGGTCAAG
GCCATTACCTGTTTCCCATCTGTAGTTATTCGATGAAGTCATGTACATGACCGTTCTGTAGCAA
TAAATGTGCCATTTTTATAAACTGTTTCTGACACTTGTTTCATTTCATTTTGCATTGTCCATAT
AGCTATGATTCTCTTCTGTAAGTAAAACGCATCTATATTTCATTTTCCAAGTGTTGGAGGTATT
GACAGCTTAACAAACAAAACATACAAAAAAAATCACAAAAACAAATTGAAAAGCAAAGCACATG
ATTGATCAAGGAAGAGATGCCCTTAATGAAAATGGAACGGGATGCATGCAAAACAAAAAGAAAA
CTGTCTAGAGGATTAACTAATTGAAGGAATATAATTAATGTGTGTGTAACACTGAAGCTATGCA
TTTGAAGAGCTCTGAACTGCACCAGTGTTTTCGGTTGTGCTGCAGGTTGCTAAGTCAAGTCAGC
CTTAACCTTTTGCACCAGTTGGTCGGCTGTTTGGCAGAACATTCTCAGATCTTTTCAGTCAAAA
ATCTAAGATGATTTATTTTGTATCACTTTGTTAAAAGCTGAATATTGTTAACTACAGTTAATAT
TAACACTGTATTTATACTTTCTCAAACTACATCCGCCCCACCACTTCTGGTTGCCTCTGTTGAC
TATTAATCCAGATGTAAACAACCAGATGTTTTTTTCTAACTTGTACAAACTGACGTGTGTCAAC
TATCATGGAAGGAAAAAAATGTACAGATTAAAATTATTCAGTGTTATGTACTGTAAGTTAATAT
TTTTGTAGAATGGACATCAATCTACTTTGCAAAATTTGGAGGCTATTTCAACATTGCACTGTAG
AAATGTAAAGTAATGTATGCAATGTAAAGGAAAGCCCGCGGTAGCTGAGCGCTTCATAACAGAA
TGTTCTAATCAAGTACGTGGTATTTGGGGATGTCTCCAATATTGCTCTTGTATTCTTTCTAATT
GGGTTTAGTGACTAGTTGAAGGAAAATGTTATAACGCCATTTGGTTCACATGTGAAGTGCCCTC
CATAGCCAAATGTTGGGATTTTTTTTTTTTTCGTTTTTGGTTGGACTGTTTGCAGATATTTAAA
TTTTATGAAATTTCCAAAGATTTTGGTTGATAACCCCCTTTTACCTTCTAAATGATTTGAGATG
TTCTTATGTTCTTACTGTGTGTTTTAAATATATATAAAAGAGCCACAAGCATTTAGTCTTTTAG
TATTATATTTGATCATATAACTACTACTGAAAAGGGGTGGGGGGGAATGTGCCTGTGCACCCCT
ACAGTATCTTGTGTAGTGTCTATTAACATTGTTCTCTTTTAGAGGACCACATTAAAAGGTACAT
TAATCTTA

hide sequence

RefSeq Acc Id:

NM_001348219 ⟹ NP_001335148

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,586,122 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,789,202 (-)	NCBI

Sequence:

show sequence

CTCCTCTTCTAGACCTTCTTTTGGAGAAATGGCTTTCGGAAGTTTTGCCAGGAAACGTAGCCCT
AGGCAGGCAGCTTTGCAGCCCCCTTTCTGCTTGTTGCACTTTCTCCATTCGTTCCTTTGCTTTT
TGCAGGCTCTGACTCAGGGAAGATGTTTTCACCTCCTGTGAGCAGTGGGAAAAATGGACCAACT
TCTTTGGCAAGTGGACATTTTACTGGCTCAAATGTAGAAGACAGAAGTAGCTCAGGGTCCTGGG
GGAATGGAGGACATCCAAGCCCGTCCAGGAACTATGGAGATGGGACTCCCTATGACCACATGAC
CAGCAGGGACCTTGGGTCACATGACAATCTCTCTCCACCTTTTGTCAATTCCAGAATACAAAGT
AAAACAGAAAGGGGCTCATACTCATCTTATGGGAGAGAATCAAACTTACAGGGTTGCCACCAGC
AGAGTCTCCTTGGAGGTGACATGGATATGGGCAACCCAGGAACCCTTTCGCCCACCAAACCTGG
TTCCCAGTACTATCAGTATTCTAGCAATAATCCCCGAAGGAGGCCTCTTCACAGTAGTGCCATG
GAGGTACAGACAAAGAAAGTTCGAAAAGTTCCTCCAGGTTTGCCATCTTCAGTCTATGCTCCAT
CAGCAAGCACTGCCGACTACAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACCAG
CACTTTCCCTAGCTCCTTCTTCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCTCC
AGTGGGATGAATCAGCCTGGCTATGCAGGAATGTTGGGCAACTCTTCTCATATTCCACAGTCCA
GCAGCTACTGTAGCCTGCATCCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGACAT
CAATTCCAGTCTTCCTCCGATGTCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCTCT
TCCTGTACGCCTCCTGCCAACGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGCCG
GCAGCTCCCAGACTGGAGATGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCACAC
TAACAACAGCTTTTCATCAAACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAGCAGGC
ACAGCTGTTTGGTCTAGAAATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTTAC
ACTCTTTGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCG
GAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATT
GGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAG
CCAACAGACATTCACTCATGGTGGGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGCAGCCA
TTCTCTTCTGCCAAACCAGGTTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTGAC
CTGAACCCACCCCAGGACCCTTACAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGTCTCCT
CTGGCAGCTCTGAGATCAAATCCGATGACGAGGGTGATGAGAACCTGCAAGACACGAAATCTTC
GGAGGACAAGAAATTAGATGACGACAAGAAGGATATCAAATCAATTACTAGCAATAATGACGAT
GAGGACCTGACACCAGAGCAGAAGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGCCC
GAGAGCGTCTGCGGGTCCGTGACATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAGCT
CCACCTCAAGAGTGACAAGCCCCAGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCATC
CTCAGTCTGGAGCAGCAAGTCCGAGAAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAGAA
GGGAGGAAGAGAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGAAT
GGGAGACGCATCGAATCACATGGGACAGATGTAAAAGGGTCCAAGTTGCCACATTGCTTCATTA
AAACAAGAGACCACTTCCTTAACAGCTGTATTATCTTAAACCCACATAAACACTTCTCCTTAAC
CCCCATTTTTGTAATATAAGACAAGTCTGAGTAGTTATGAATCGCAGACGCAAGAGGTTTCAGC
ATTCCCAATTATCAAAAAACAGAAAAACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGACG
ACTTTCTTTAACATATCATTCAGAATGTGCAAAGCAGTATGTACAGGCTGAGACACAGCCCAGA
GACTGAACGGCAATCTTTCCACACTGTGGAACAATGCATTTGTGCCTAAACTTCTTTTGGAAAA
AAAAAATATAATTAATTTGTAAGTCTGAAAAAAAAATATTTAATTTAAAAAAAATTGTAAACTT
GCAATAATGAAAAAGTGTACTTCTGAAGAAAACTACATGAACGTTTTTGTTGGTATTCAAGTCA
GCTAGTGTTTATAATTACTGGATATTGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAAAACCA
GCAAACGTCCTGATGACAACGAAGTGATGACATTAGCCATTCCTTAGGGTAGGAGGAACAGATG
GATCTTATAGACCTATGACAAATATATATATAAATATATATATAAATATATATTAAAAATTTAG
TGACTATGGTAAGCTTTTGTTCATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGTACTGA
TTAACTTTTTTAAAAGAAAGATTTTACTGTAAATATGGATTTTTTTTTTTTTGGTCTTATTTCT
GTCCCTTTCCCTGGTTTGTTATCGTAACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTGCA
GGATGAAATGCTGACCCTGATGTTGCTTCTCATTCATAAATAAGTAGAAAGTTGTTTCTCCAGT
CTTTTGGGAACACAGGACTTAAAAGTCACATCATGTGTAGATATTACAAGCAGCATTACCAAGA
CATGGCAAAAAGAGTTTGTCTGAATTGTAATGTTGCGTTTGTGAACCTATTCTGGGATTTTCAG
AGGTACAAGGTTAGAATGCTACAATGTTACCACTGTGCCTTCCAATGTTTATATCATCGGAAAC
ATAACATAATCAAAGTGGCTGTGATTTAACAAAATGATTAAAGTGTTACCTACCTGTGTAGCCG
AAGTAGTGTGCAGTGAGGCGTTTCTGAATACATGGTCAGATTTTTGGAAAAAAACAAAAACAAA
AAAAACAAGTAAAGTTCAAAAACCGTCAAATGAGAAAATTGCAAGTAGTGTGACAGAGCTGATT
GATTTTGTTGCTTTCTTGATTTTTTTTTTCAAAATGGGTTTACTAAAATGTAGATGACTTAACT
GCCTCCTCCTTCGTCTGAAAAATGCCAATATTCAATCATCATGCAGCATTATAACAAGCCTTAT
AAGTCCTAAAGCATTAAGTTGCACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAGTA
TGAATGAAGTTTATACTTACCATATTTGATAGAAACATAGATCAAGCTATGGCACAGCGACTCA
TCAGATAGCTAGCTTTGACGTCTGGGCACAATTGAACCAACTTCCATCGTGAATCTTTATAATG
ATTGACTTTGGTGTATAGTGCAGTAAACAAATAGTGCTCCTAGTTAAGTATTTGTCAGCATCCT
TTTGTCTCTAACTTGTTTCTATTTTTACAGCCACACAATTCTTGGCATGTATTAAGAAAAAAAA
AAATCCCTGTTCAAGTAGTTTTTCCACCTATCAGCACTGAGTAAATGCCATAAATCCATTGAAA
TGGTCTAAATGTTCCATCTGTTCTCCTGTTTTGCCAGTTATATAGTAATGAAATACATTTGTAA
ATTTTATGCAACAAATGGCAAACGTATCATTATTTTGAAATTGTGTATGTAAAAGTTATATTTT
TACATGTAGACTCTTGTTATTATGTGTTTTAATACATTGTATCAGTTTTTGTTTTTTTTTAAAA
ACTGTGGTTTAAAAAGAAGTCTCATTTAAATGAAATAGCTACAAGAATCAGAATTTTATGTTCA
TTTCTGAAAATGTAAGAACAAATAAGATAGTTACCACGTGGTCATCTTTTACAAACCCATAAAC
ATTTTGATTAGCTGTGTGTGTGTTGAAAAACTGTAAATATGTTCAGTAGCGATAAAACTAAAAT
AACTTTGATTTGTTGATAAGTTCCTAAAATGTGGAGGTGGATTAAAACCTTAGGAGAATAGCAG
AAATCAAACTTCATGAAAAGTTATTTTGGGGCTTTCCTGTGAAATGTATGAACAAAGAGGCTCA
GAGAAGGACATGGAAGACAATAATGTATACTCTCTCCTCCTCCCTGAATAATGAAAACCATGTG
TATTTGTTCCCTCCGTATGTTAAAGATTTCCTTTTAGTGGTACATTCTGCACTCATTTTGTATA
GTCTACCAAGGCGGGTATCCCTAGGAACAATATTATATAGGAAGCAGGTATACTCTGATCACAT
TCAGGATAAGTGTACAGAAGAAAATACGGTGTTTACTCTTTAGGGAACTGGAAACACTCCCTGC
ATTGATGTACATTTTAAGAATGGCACTTTTGATACATGTTATCATAAAGGTGCTTAATAGAGCT
GAATTAAAGTTTTTCAAATCTGTAAACAAAGCAAAAAAGTAAATTGTAGTCATTTGATTATTTT
TTAAATTGGTGCTTTATATTTTGTTCTCACTCAGAGTAAAAGCTGCAATTTATTGTTCACCAGC
TTTGATGTATTCATTACTCAGTAATGCAATACCTCTATTGTTGAATTCCCTTTGGAAATAAGTG
AAAATTCTAACGGCCACTGAAAGCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACATAATCTGCA
CCTATCCATATTAATTGGGTTGTATCCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTTTA
GTGTGTTTTTTATTGTTGTTGTTTTGTAATTATCAAACCCAGGTAAGATATTGGTATCCTGCAC
TGGATTTTCAAATGAAGTTCAGCAGAAGACAGTTAAGATTAAAGTACTATACAAAAATTTCAAA
AGGGTCCATACTACGCTATCTGTATGACGACACTTAGGCTGGGGATCTCTTTCAGAAACTCGGA
CTTTAAAAGCAACTTGGAGCAGTTGATCCACCTCCACATTCAAGTAATTTATGAATATGCAGAA
TAGGGATCTGTTCATCTAGAAATTTTTACCATTTGTCTTCTGTGTAGCTGCAAGGAACACTAAT
GTTTATACAACTGTCAGTCCACCCAGTGGTGCAACTGGTTCTGATTCAGTCTTCCGATTCCTTT
TTATTTTTCACTTTTTCCTATTTCTGAATTTTTTTTTTTATTTGTGATCTTGATTTTGATGAGG
GGTTGGGGAGTGGGGAGGGAGTCGAACCAAGACTTGGAGTTAAGAGGATTTTCATCTTTTGCAT
CCAACAGGCAGAATATGATCTGTGTCCAAAAGTGAACTTGAGTCAGGAATGAATCAATTTCAGC
ATAAACAAGCACAAAAATTTAGTCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGAATATG
ATGAATTCCAACACAATGGGGCACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTTTT
GTTTGTTTTTCTTTAGAGACATGCTCTTTCTCATGGGACTTGAAGTGGACTCATCTTTGTGCAG
TGCTGGTTTTGCCATACTCATTTCAAGTATTATAGACATATGTAATGGTGAAAATATATGAACT
GTGGCCTTTTTCATTCTTGTTACTTGTGATGCAATTAAGTGAAGATAAGAAAAAAAAAAAAAAA
GCAGAGATTTACCATGTATCAGTGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCTCT
TTTGCTATAAAATAGACTGTAGTACACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAAAATAA
AAAATATATTTGGCTTATTTTTCGCAGGAGCAATCCTTTTATACCATGAATATTACAAAAAAAT
TGTCAGATTCTGAATATTTCTTCTTTGTAGATTTTTGGAATCATTATGAGTAAAAGTTTGTTAC
TTTATTTTACTATTTAAAAGATGTTATTTTACCATGTGTTACCAAGATGAAACTGTATGGGTAG
CTTTTTTGTTTGTTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAGCG
GGGAAATTTTTTGCGACTGTACACATAGCTGCAGCATTAAAAACTTAAAAAAATTGTTAAAAAA
AAAAAAAGGGAAAACATTTCAAAAAAAAAAAAAAAGATAAACAGTTACACCTTGTTTTCAATGT
GTGGCTGAGTGCCTCGATTTTTTCATGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTCCAAAC
AGGTTGTGTGCTGGAGTTCCTTCAAGACAAAAACAAACCCAGCTTGGTCAAGGCCATTACCTGT
TTCCCATCTGTAGTTATTCGATGAAGTCATGTACATGACCGTTCTGTAGCAATAAATGTGCCAT
TTTTATAAACTGTTTCTGACACTTGTTTCATTTCATTTTGCATTGTCCATATAGCTATGATTCT
CTTCTGTAAGTAAAACGCATCTATATTTCATTTTCCAAGTGTTGGAGGTATTGACAGCTTAACA
AACAAAACATACAAAAAAAATCACAAAAACAAATTGAAAAGCAAAGCACATGATTGATCAAGGA
AGAGATGCCCTTAATGAAAATGGAACGGGATGCATGCAAAACAAAAAGAAAACTGTCTAGAGGA
TTAACTAATTGAAGGAATATAATTAATGTGTGTGTAACACTGAAGCTATGCATTTGAAGAGCTC
TGAACTGCACCAGTGTTTTCGGTTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTTTG
CACCAGTTGGTCGGCTGTTTGGCAGAACATTCTCAGATCTTTTCAGTCAAAAATCTAAGATGAT
TTATTTTGTATCACTTTGTTAAAAGCTGAATATTGTTAACTACAGTTAATATTAACACTGTATT
TATACTTTCTCAAACTACATCCGCCCCACCACTTCTGGTTGCCTCTGTTGACTATTAATCCAGA
TGTAAACAACCAGATGTTTTTTTCTAACTTGTACAAACTGACGTGTGTCAACTATCATGGAAGG
AAAAAAATGTACAGATTAAAATTATTCAGTGTTATGTACTGTAAGTTAATATTTTTGTAGAATG
GACATCAATCTACTTTGCAAAATTTGGAGGCTATTTCAACATTGCACTGTAGAAATGTAAAGTA
ATGTATGCAATGTAAAGGAAAGCCCGCGGTAGCTGAGCGCTTCATAACAGAATGTTCTAATCAA
GTACGTGGTATTTGGGGATGTCTCCAATATTGCTCTTGTATTCTTTCTAATTGGGTTTAGTGAC
TAGTTGAAGGAAAATGTTATAACGCCATTTGGTTCACATGTGAAGTGCCCTCCATAGCCAAATG
TTGGGATTTTTTTTTTTTTCGTTTTTGGTTGGACTGTTTGCAGATATTTAAATTTTATGAAATT
TCCAAAGATTTTGGTTGATAACCCCCTTTTACCTTCTAAATGATTTGAGATGTTCTTATGTTCT
TACTGTGTGTTTTAAATATATATAAAAGAGCCACAAGCATTTAGTCTTTTAGTATTATATTTGA
TCATATAACTACTACTGAAAAGGGGTGGGGGGGAATGTGCCTGTGCACCCCTACAGTATCTTGT
GTAGTGTCTATTAACATTGTTCTCTTTTAGAGGACCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001348220 ⟹ NP_001335149

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,331 - 55,586,119 (-)	NCBI
T2T-CHM13v2.0	18	55,425,420 - 55,789,199 (-)	NCBI

Sequence:

show sequence

CTCTTCTAGACCTTCTTTTGGAGAAATGGCTTTCGGAAGTTTTGCCAGGAAACGTAGCCCTAGG
CAGGCAGCTTTGCAGCCCCCTTTCTGCTTGTTGCACTTTCTCCATTCGTTCCTTTGCTTTTTGC
AGGCTCTGACTCAGGGAAGGTGTGCATTATCCACTAGATACGTCGAAGAAGAGGGAAACCAATT
AGGGTCGAAATAAATGCTGGAGAGAGAGGGAGTGAAAGAGAGAGTGAGAGTGAGAGAGAGAGAG
AGTCTTGCTTCAAATTGCTCTCCTGTTAGAGACGAAATGAGAATTTAGTGCAGATGTTTTCACC
TCCTGTGAGCAGTGGGAAAAATGGACCAACTTCTTTGGCAAGTGGACATTTTACTGGCTCAAAT
GTAGAAGACAGAAGTAGCTCAGGGTCCTGGGGGAATGGAGGACATCCAAGCCCGTCCAGGAACT
ATGGAGATGGGACTCCCTATGACCACATGACCAGCAGGGACCTTGGGTCACATGACAATCTCTC
TCCACCTTTTGTCAATTCCAGAATACAAAGTAAAACAGAAAGGGGCTCATACTCATCTTATGGG
AGAGAATCAAACTTACAGGGTTGCCACCAGAGTCTCCTTGGAGGTGACATGGATATGGGCAACC
CAGGAACCCTTTCGCCCACCAAACCTGGTTCCCAGTACTATCAGTATTCTAGCAATAATCCCCG
AAGGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGACAAAGAAAGTTCGAAAAGTTCCTCCA
GGTTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCACTGCCGACTACAATAGGGACTCGCCAG
GCTATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCTAGCTCCTTCTTCATGCAAGATGGCCA
TCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTGGCTATGCAGGAATGTTG
GGCAACTCTTCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCATCCACATGAACGTTTGA
GCTATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCGATGTCCACTTTCCATCG
TAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCCAACGGGACAGACAGTATA
ATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCAGACTGGAGATGCTCTGGGGAAAGCAC
TTGCTTCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATCAAACCCTTCAACTCCTGT
TGGCTCTCCTCCATCTCTCTCAGCAGGCACAGCTGTTTGGTCTAGAAATGGAGGACAGGCCTCA
TCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCGAATTGAAGATCGTTTAGAAA
GACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGG
TGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGC
TCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTGGGGACCCATCGTG
AAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTGCCAAACCAGGTTCCGGTTCCACAGCT
TCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCACCCCAGGACCCTTACAGAGGCATGCCA
CCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTCTGAGATCAAATCCGATGACGAGGGTG
ATGAGAACCTGCAAGACACGAAATCTTCGGAGGACAAGAAATTAGATGACGACAAGAAGGATAT
CAAATCAATTACTAGCAATAATGACGATGAGGACCTGACACCAGAGCAGAAGGCAGAGCGTGAG
AAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCGTCTGCGGGTCCGTGACATCAACGAGGCTT
TCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCTCAAGAGTGACAAGCCCCAGACCAAGCTCCT
GATCCTCCACCAGGCGGTGGCCGTCATCCTCAGTCTGGAGCAGCAAGTCCGAGAAAGGAATCTG
AATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGGAAGAGAAGGTGTCCTCAGAGCCTCCCCCTC
TCTCCTTGGCCGGCCCACACCCTGGAATGGGAGACGCATCGAATCACATGGGACAGATGTAAAA
GGGTCCAAGTTGCCACATTGCTTCATTAAAACAAGAGACCACTTCCTTAACAGCTGTATTATCT
TAAACCCACATAAACACTTCTCCTTAACCCCCATTTTTGTAATATAAGACAAGTCTGAGTAGTT
ATGAATCGCAGACGCAAGAGGTTTCAGCATTCCCAATTATCAAAAAACAGAAAAACAAAAAAAA
GAAAGAAAAAAGTGCAACTTGAGGGACGACTTTCTTTAACATATCATTCAGAATGTGCAAAGCA
GTATGTACAGGCTGAGACACAGCCCAGAGACTGAACGGCAATCTTTCCACACTGTGGAACAATG
CATTTGTGCCTAAACTTCTTTTGGAAAAAAAAAATATAATTAATTTGTAAGTCTGAAAAAAAAA
TATTTAATTTAAAAAAAATTGTAAACTTGCAATAATGAAAAAGTGTACTTCTGAAGAAAACTAC
ATGAACGTTTTTGTTGGTATTCAAGTCAGCTAGTGTTTATAATTACTGGATATTGAATTAGGGG
AAGCTCGGCTGCCCTAGTAACAAAACCAGCAAACGTCCTGATGACAACGAAGTGATGACATTAG
CCATTCCTTAGGGTAGGAGGAACAGATGGATCTTATAGACCTATGACAAATATATATATAAATA
TATATATAAATATATATTAAAAATTTAGTGACTATGGTAAGCTTTTGTTCATTTGTTTCAGACT
TTTTTCTCCTGTAAAAAAATAGTACTGATTAACTTTTTTAAAAGAAAGATTTTACTGTAAATAT
GGATTTTTTTTTTTTTGGTCTTATTTCTGTCCCTTTCCCTGGTTTGTTATCGTAACCTGTAGTG
CCAACTCTGCTTCCAGAGGGGTAGTGCAGGATGAAATGCTGACCCTGATGTTGCTTCTCATTCA
TAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTTGGGAACACAGGACTTAAAAGTCACATCATGT
GTAGATATTACAAGCAGCATTACCAAGACATGGCAAAAAGAGTTTGTCTGAATTGTAATGTTGC
GTTTGTGAACCTATTCTGGGATTTTCAGAGGTACAAGGTTAGAATGCTACAATGTTACCACTGT
GCCTTCCAATGTTTATATCATCGGAAACATAACATAATCAAAGTGGCTGTGATTTAACAAAATG
ATTAAAGTGTTACCTACCTGTGTAGCCGAAGTAGTGTGCAGTGAGGCGTTTCTGAATACATGGT
CAGATTTTTGGAAAAAAACAAAAACAAAAAAAACAAGTAAAGTTCAAAAACCGTCAAATGAGAA
AATTGCAAGTAGTGTGACAGAGCTGATTGATTTTGTTGCTTTCTTGATTTTTTTTTTCAAAATG
GGTTTACTAAAATGTAGATGACTTAACTGCCTCCTCCTTCGTCTGAAAAATGCCAATATTCAAT
CATCATGCAGCATTATAACAAGCCTTATAAGTCCTAAAGCATTAAGTTGCACTTTTTTGAGGAG
GGGTAGTGCAGTATTTCTCTGGCCAGTATGAATGAAGTTTATACTTACCATATTTGATAGAAAC
ATAGATCAAGCTATGGCACAGCGACTCATCAGATAGCTAGCTTTGACGTCTGGGCACAATTGAA
CCAACTTCCATCGTGAATCTTTATAATGATTGACTTTGGTGTATAGTGCAGTAAACAAATAGTG
CTCCTAGTTAAGTATTTGTCAGCATCCTTTTGTCTCTAACTTGTTTCTATTTTTACAGCCACAC
AATTCTTGGCATGTATTAAGAAAAAAAAAAATCCCTGTTCAAGTAGTTTTTCCACCTATCAGCA
CTGAGTAAATGCCATAAATCCATTGAAATGGTCTAAATGTTCCATCTGTTCTCCTGTTTTGCCA
GTTATATAGTAATGAAATACATTTGTAAATTTTATGCAACAAATGGCAAACGTATCATTATTTT
GAAATTGTGTATGTAAAAGTTATATTTTTACATGTAGACTCTTGTTATTATGTGTTTTAATACA
TTGTATCAGTTTTTGTTTTTTTTTAAAAACTGTGGTTTAAAAAGAAGTCTCATTTAAATGAAAT
AGCTACAAGAATCAGAATTTTATGTTCATTTCTGAAAATGTAAGAACAAATAAGATAGTTACCA
CGTGGTCATCTTTTACAAACCCATAAACATTTTGATTAGCTGTGTGTGTGTTGAAAAACTGTAA
ATATGTTCAGTAGCGATAAAACTAAAATAACTTTGATTTGTTGATAAGTTCCTAAAATGTGGAG
GTGGATTAAAACCTTAGGAGAATAGCAGAAATCAAACTTCATGAAAAGTTATTTTGGGGCTTTC
CTGTGAAATGTATGAACAAAGAGGCTCAGAGAAGGACATGGAAGACAATAATGTATACTCTCTC
CTCCTCCCTGAATAATGAAAACCATGTGTATTTGTTCCCTCCGTATGTTAAAGATTTCCTTTTA
GTGGTACATTCTGCACTCATTTTGTATAGTCTACCAAGGCGGGTATCCCTAGGAACAATATTAT
ATAGGAAGCAGGTATACTCTGATCACATTCAGGATAAGTGTACAGAAGAAAATACGGTGTTTAC
TCTTTAGGGAACTGGAAACACTCCCTGCATTGATGTACATTTTAAGAATGGCACTTTTGATACA
TGTTATCATAAAGGTGCTTAATAGAGCTGAATTAAAGTTTTTCAAATCTGTAAACAAAGCAAAA
AAGTAAATTGTAGTCATTTGATTATTTTTTAAATTGGTGCTTTATATTTTGTTCTCACTCAGAG
TAAAAGCTGCAATTTATTGTTCACCAGCTTTGATGTATTCATTACTCAGTAATGCAATACCTCT
ATTGTTGAATTCCCTTTGGAAATAAGTGAAAATTCTAACGGCCACTGAAAGCTGCTCGCTAGGT
TTTGCTTGGTGGAGAAACATAATCTGCACCTATCCATATTAATTGGGTTGTATCCCCATTAAAA
AAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTGTTTTTTATTGTTGTTGTTTTGTAATTATCAA
ACCCAGGTAAGATATTGGTATCCTGCACTGGATTTTCAAATGAAGTTCAGCAGAAGACAGTTAA
GATTAAAGTACTATACAAAAATTTCAAAAGGGTCCATACTACGCTATCTGTATGACGACACTTA
GGCTGGGGATCTCTTTCAGAAACTCGGACTTTAAAAGCAACTTGGAGCAGTTGATCCACCTCCA
CATTCAAGTAATTTATGAATATGCAGAATAGGGATCTGTTCATCTAGAAATTTTTACCATTTGT
CTTCTGTGTAGCTGCAAGGAACACTAATGTTTATACAACTGTCAGTCCACCCAGTGGTGCAACT
GGTTCTGATTCAGTCTTCCGATTCCTTTTTATTTTTCACTTTTTCCTATTTCTGAATTTTTTTT
TTTATTTGTGATCTTGATTTTGATGAGGGGTTGGGGAGTGGGGAGGGAGTCGAACCAAGACTTG
GAGTTAAGAGGATTTTCATCTTTTGCATCCAACAGGCAGAATATGATCTGTGTCCAAAAGTGAA
CTTGAGTCAGGAATGAATCAATTTCAGCATAAACAAGCACAAAAATTTAGTCTGCTGGCTGACT
GGAAGCAAAAAAGTCAAGATGGAATATGATGAATTCCAACACAATGGGGCACCAAGGCCTTTAG
GCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTGTTTTTCTTTAGAGACATGCTCTTTCTCATGG
GACTTGAAGTGGACTCATCTTTGTGCAGTGCTGGTTTTGCCATACTCATTTCAAGTATTATAGA
CATATGTAATGGTGAAAATATATGAACTGTGGCCTTTTTCATTCTTGTTACTTGTGATGCAATT
AAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGAGATTTACCATGTATCAGTGCCTGGCTTTTTG
TTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCTATAAAATAGACTGTAGTACACCCTAGTAGG
AAAAAAAAAAAACTAAATTTAAAAATAAAAAATATATTTGGCTTATTTTTCGCAGGAGCAATCC
TTTTATACCATGAATATTACAAAAAAATTGTCAGATTCTGAATATTTCTTCTTTGTAGATTTTT
GGAATCATTATGAGTAAAAGTTTGTTACTTTATTTTACTATTTAAAAGATGTTATTTTACCATG
TGTTACCAAGATGAAACTGTATGGGTAGCTTTTTTGTTTGTTTTTTGTTTTGTTTTTGTTTTTG
TTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAATTTTTTGCGACTGTACACATAGCTGCAGCA
TTAAAAACTTAAAAAAATTGTTAAAAAAAAAAAAAGGGAAAACATTTCAAAAAAAAAAAAAAAG
ATAAACAGTTACACCTTGTTTTCAATGTGTGGCTGAGTGCCTCGATTTTTTCATGTTTTTGGTG
TATTTCTGATTTGTAGAAGTGTCCAAACAGGTTGTGTGCTGGAGTTCCTTCAAGACAAAAACAA
ACCCAGCTTGGTCAAGGCCATTACCTGTTTCCCATCTGTAGTTATTCGATGAAGTCATGTACAT
GACCGTTCTGTAGCAATAAATGTGCCATTTTTATAAACTGTTTCTGACACTTGTTTCATTTCAT
TTTGCATTGTCCATATAGCTATGATTCTCTTCTGTAAGTAAAACGCATCTATATTTCATTTTCC
AAGTGTTGGAGGTATTGACAGCTTAACAAACAAAACATACAAAAAAAATCACAAAAACAAATTG
AAAAGCAAAGCACATGATTGATCAAGGAAGAGATGCCCTTAATGAAAATGGAACGGGATGCATG
CAAAACAAAAAGAAAACTGTCTAGAGGATTAACTAATTGAAGGAATATAATTAATGTGTGTGTA
ACACTGAAGCTATGCATTTGAAGAGCTCTGAACTGCACCAGTGTTTTCGGTTGTGCTGCAGGTT
GCTAAGTCAAGTCAGCCTTAACCTTTTGCACCAGTTGGTCGGCTGTTTGGCAGAACATTCTCAG
ATCTTTTCAGTCAAAAATCTAAGATGATTTATTTTGTATCACTTTGTTAAAAGCTGAATATTGT
TAACTACAGTTAATATTAACACTGTATTTATACTTTCTCAAACTACATCCGCCCCACCACTTCT
GGTTGCCTCTGTTGACTATTAATCCAGATGTAAACAACCAGATGTTTTTTTCTAACTTGTACAA
ACTGACGTGTGTCAACTATCATGGAAGGAAAAAAATGTACAGATTAAAATTATTCAGTGTTATG
TACTGTAAGTTAATATTTTTGTAGAATGGACATCAATCTACTTTGCAAAATTTGGAGGCTATTT
CAACATTGCACTGTAGAAATGTAAAGTAATGTATGCAATGTAAAGGAAAGCCCGCGGTAGCTGA
GCGCTTCATAACAGAATGTTCTAATCAAGTACGTGGTATTTGGGGATGTCTCCAATATTGCTCT
TGTATTCTTTCTAATTGGGTTTAGTGACTAGTTGAAGGAAAATGTTATAACGCCATTTGGTTCA
CATGTGAAGTGCCCTCCATAGCCAAATGTTGGGATTTTTTTTTTTTTCGTTTTTGGTTGGACTG
TTTGCAGATATTTAAATTTTATGAAATTTCCAAAGATTTTGGTTGATAACCCCCTTTTACCTTC
TAAATGATTTGAGATGTTCTTATGTTCTTACTGTGTGTTTTAAATATATATAAAAGAGCCACAA
GCATTT

hide sequence

RefSeq Acc Id:

NM_001369567 ⟹ NP_001356496

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,589,811 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,792,862 (-)	NCBI

Sequence:

show sequence

CTCTTTATAAGCCCGCAGTTCCCGGATGTGAATGGATTACAATGTATCTTTCAGGGAAACCTAT
TATTATCAATGTGACTCCACGGGGGAGTCCATGGTGATGATGATGAGGAGGAGGATGATGATGA
TGAGACACCTCTAAACTTGGAACAAGTTTAAGACTTTATGAGAGAAGAAAAAAAATCACCAACA
AGAATTGTTTGAGGAAAAATTATAACTATCCTGTGTTCATTTTTTTTTTTATAAACAATAAGAA
AAAGTTGTTGGATTTTTTTTTAATGATTTCTTTTTTGGGGGAGGGAATTTTGTTGCAGTTTTAT
GGTGGAAAATGCAAAAACCAGAGCCAGGTGCATAATCTTGTAATCTGTGGATATCCCTGGAGCA
GGACTGAGTACCAGTTAAAATACTTTTTGGGGATACACATGTGAGATACTAAGTACTTGCAGAA
GATTTTTGTCTCTCTTTTTAAAGTCTCTTTCCTTGGAATATTGTGAGAATATTTGTGGCCATTT
AAGGTTTGTGTGATTTTGCTAAAATGCATCACCAACAGCGAATGGCTGCCTTAGGGACGGACAA
AGAGCTGAGTGATTTACTGGATTTCAGTGCGATGTTTTCACCTCCTGTGAGCAGTGGGAAAAAT
GGACCAACTTCTTTGGCAAGTGGACATTTTACTGGCTCAAATGTAGAAGACAGAAGTAGCTCAG
GGTCCTGGGGGAATGGAGGACATCCAAGCCCGTCCAGGAACTATGGAGATGGGACTCCCTATGA
CCACATGACCAGCAGGGACCTTGGGTCACATGACAATCTCTCTCCACCTTTTGTCAATTCCAGA
ATACAAAGTAAAACAGAAAGGGGCTCATACTCATCTTATGGGAGAGAATCAAACTTACAGGGTT
GCCACCAGCAGAGTCTCCTTGGAGGTGACATGGATATGGGCAACCCAGGAACCCTTTCGCCCAC
CAAACCTGGTTCCCAGTACTATCAGTATTCTAGCAATAATCCCCGAAGGAGGCCTCTTCACAGT
AGTGCCATGGAGGTACAGACAAAGAAAGTTCGAAAAGTTCCTCCAGGTTTGCCATCTTCAGTCT
ATGCTCCATCAGCAAGCACTGCCGACTACAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACC
AGCAACCAGCACTTTCCCTAGCTCCTTCTTCATGCAAGATGGCCATCACAGCAGTGACCCTTGG
AGCTCCTCCAGTGGGATGAATCAGCCTGGCTATGCAGGAATGTTGGGCAACTCTTCTCATATTC
CACAGTCCAGCAGCTACTGTAGCCTGCATCCACATGAACGTTTGAGCTATCCATCACACTCCTC
AGCAGACATCAATTCCAGTCTTCCTCCGATGTCCACTTTCCATCGTAGTGGTACAAACCATTAC
AGCACCTCTTCCTGTACGCCTCCTGCCAACGGGACAGACAGTATAATGGCAAATAGAGGAAGCG
GGGCAGCCGGCAGCTCCCAGACTGGAGATGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCC
AGATCACACTAACAACAGCTTTTCATCAAACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTC
TCAGCAGGCACAGCTGTTTGGTCTAGAAATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAG
GACCCTTACACTCTTTGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCA
TGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCAT
GGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCC
TTCTTTCAGCCAACAGACATTCACTCATGGTGGGGACCCATCGTGAAGATGGCGTGGCCCTGAG
AGGCAGCCATTCTCTTCTGCCAAACCAGGTTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACT
TCCCCTGACCTGAACCCACCCCAGGACCCTTACAGAGGCATGCCACCAGGACTACAGGGGCAGA
GTGTCTCCTCTGGCAGCTCTGAGATCAAATCCGATGACGAGGGTGATGAGAACCTGCAAGACAC
GAAATCTTCGGAGGACAAGAAATTAGATGACGACAAGAAGGATATCAAATCAATTACTAGGTCA
AGATCTAGCAATAATGACGATGAGGACCTGACACCAGAGCAGAAGGCAGAGCGTGAGAAGGAGC
GGAGGATGGCCAACAATGCCCGAGAGCGTCTGCGGGTCCGTGACATCAACGAGGCTTTCAAAGA
GCTCGGCCGCATGGTGCAGCTCCACCTCAAGAGTGACAAGCCCCAGACCAAGCTCCTGATCCTC
CACCAGGCGGTGGCCGTCATCCTCAGTCTGGAGCAGCAAGTCCGAGAAAGGAATCTGAATCCGA
AAGCTGCGTGTCTGAAAAGAAGGGAGGAAGAGAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTT
GGCCGGCCCACACCCTGGAATGGGAGACGCATCGAATCACATGGGACAGATGTAAAAGGGTCCA
AGTTGCCACATTGCTTCATTAAAACAAGAGACCACTTCCTTAACAGCTGTATTATCTTAAACCC
ACATAAACACTTCTCCTTAACCCCCATTTTTGTAATATAAGACAAGTCTGAGTAGTTATGAATC
GCAGACGCAAGAGGTTTCAGCATTCCCAATTATCAAAAAACAGAAAAACAAAAAAAAGAAAGAA
AAAAGTGCAACTTGAGGGACGACTTTCTTTAACATATCATTCAGAATGTGCAAAGCAGTATGTA
CAGGCTGAGACACAGCCCAGAGACTGAACGGCAATCTTTCCACACTGTGGAACAATGCATTTGT
GCCTAAACTTCTTTTGGAAAAAAAAAATATAATTAATTTGTAAGTCTGAAAAAAAAATATTTAA
TTTAAAAAAAATTGTAAACTTGCAATAATGAAAAAGTGTACTTCTGAAGAAAACTACATGAACG
TTTTTGTTGGTATTCAAGTCAGCTAGTGTTTATAATTACTGGATATTGAATTAGGGGAAGCTCG
GCTGCCCTAGTAACAAAACCAGCAAACGTCCTGATGACAACGAAGTGATGACATTAGCCATTCC
TTAGGGTAGGAGGAACAGATGGATCTTATAGACCTATGACAAATATATATATAAATATATATAT
AAATATATATTAAAAATTTAGTGACTATGGTAAGCTTTTGTTCATTTGTTTCAGACTTTTTTCT
CCTGTAAAAAAATAGTACTGATTAACTTTTTTAAAAGAAAGATTTTACTGTAAATATGGATTTT
TTTTTTTTTGGTCTTATTTCTGTCCCTTTCCCTGGTTTGTTATCGTAACCTGTAGTGCCAACTC
TGCTTCCAGAGGGGTAGTGCAGGATGAAATGCTGACCCTGATGTTGCTTCTCATTCATAAATAA
GTAGAAAGTTGTTTCTCCAGTCTTTTGGGAACACAGGACTTAAAAGTCACATCATGTGTAGATA
TTACAAGCAGCATTACCAAGACATGGCAAAAAGAGTTTGTCTGAATTGTAATGTTGCGTTTGTG
AACCTATTCTGGGATTTTCAGAGGTACAAGGTTAGAATGCTACAATGTTACCACTGTGCCTTCC
AATGTTTATATCATCGGAAACATAACATAATCAAAGTGGCTGTGATTTAACAAAATGATTAAAG
TGTTACCTACCTGTGTAGCCGAAGTAGTGTGCAGTGAGGCGTTTCTGAATACATGGTCAGATTT
TTGGAAAAAAACAAAAACAAAAAAAACAAGTAAAGTTCAAAAACCGTCAAATGAGAAAATTGCA
AGTAGTGTGACAGAGCTGATTGATTTTGTTGCTTTCTTGATTTTTTTTTTCAAAATGGGTTTAC
TAAAATGTAGATGACTTAACTGCCTCCTCCTTCGTCTGAAAAATGCCAATATTCAATCATCATG
CAGCATTATAACAAGCCTTATAAGTCCTAAAGCATTAAGTTGCACTTTTTTGAGGAGGGGTAGT
GCAGTATTTCTCTGGCCAGTATGAATGAAGTTTATACTTACCATATTTGATAGAAACATAGATC
AAGCTATGGCACAGCGACTCATCAGATAGCTAGCTTTGACGTCTGGGCACAATTGAACCAACTT
CCATCGTGAATCTTTATAATGATTGACTTTGGTGTATAGTGCAGTAAACAAATAGTGCTCCTAG
TTAAGTATTTGTCAGCATCCTTTTGTCTCTAACTTGTTTCTATTTTTACAGCCACACAATTCTT
GGCATGTATTAAGAAAAAAAAAAATCCCTGTTCAAGTAGTTTTTCCACCTATCAGCACTGAGTA
AATGCCATAAATCCATTGAAATGGTCTAAATGTTCCATCTGTTCTCCTGTTTTGCCAGTTATAT
AGTAATGAAATACATTTGTAAATTTTATGCAACAAATGGCAAACGTATCATTATTTTGAAATTG
TGTATGTAAAAGTTATATTTTTACATGTAGACTCTTGTTATTATGTGTTTTAATACATTGTATC
AGTTTTTGTTTTTTTTTAAAAACTGTGGTTTAAAAAGAAGTCTCATTTAAATGAAATAGCTACA
AGAATCAGAATTTTATGTTCATTTCTGAAAATGTAAGAACAAATAAGATAGTTACCACGTGGTC
ATCTTTTACAAACCCATAAACATTTTGATTAGCTGTGTGTGTGTTGAAAAACTGTAAATATGTT
CAGTAGCGATAAAACTAAAATAACTTTGATTTGTTGATAAGTTCCTAAAATGTGGAGGTGGATT
AAAACCTTAGGAGAATAGCAGAAATCAAACTTCATGAAAAGTTATTTTGGGGCTTTCCTGTGAA
ATGTATGAACAAAGAGGCTCAGAGAAGGACATGGAAGACAATAATGTATACTCTCTCCTCCTCC
CTGAATAATGAAAACCATGTGTATTTGTTCCCTCCGTATGTTAAAGATTTCCTTTTAGTGGTAC
ATTCTGCACTCATTTTGTATAGTCTACCAAGGCGGGTATCCCTAGGAACAATATTATATAGGAA
GCAGGTATACTCTGATCACATTCAGGATAAGTGTACAGAAGAAAATACGGTGTTTACTCTTTAG
GGAACTGGAAACACTCCCTGCATTGATGTACATTTTAAGAATGGCACTTTTGATACATGTTATC
ATAAAGGTGCTTAATAGAGCTGAATTAAAGTTTTTCAAATCTGTAAACAAAGCAAAAAAGTAAA
TTGTAGTCATTTGATTATTTTTTAAATTGGTGCTTTATATTTTGTTCTCACTCAGAGTAAAAGC
TGCAATTTATTGTTCACCAGCTTTGATGTATTCATTACTCAGTAATGCAATACCTCTATTGTTG
AATTCCCTTTGGAAATAAGTGAAAATTCTAACGGCCACTGAAAGCTGCTCGCTAGGTTTTGCTT
GGTGGAGAAACATAATCTGCACCTATCCATATTAATTGGGTTGTATCCCCATTAAAAAAGAAAA
AAAGGGAATGTGGCCTTTTTAGTGTGTTTTTTATTGTTGTTGTTTTGTAATTATCAAACCCAGG
TAAGATATTGGTATCCTGCACTGGATTTTCAAATGAAGTTCAGCAGAAGACAGTTAAGATTAAA
GTACTATACAAAAATTTCAAAAGGGTCCATACTACGCTATCTGTATGACGACACTTAGGCTGGG
GATCTCTTTCAGAAACTCGGACTTTAAAAGCAACTTGGAGCAGTTGATCCACCTCCACATTCAA
GTAATTTATGAATATGCAGAATAGGGATCTGTTCATCTAGAAATTTTTACCATTTGTCTTCTGT
GTAGCTGCAAGGAACACTAATGTTTATACAACTGTCAGTCCACCCAGTGGTGCAACTGGTTCTG
ATTCAGTCTTCCGATTCCTTTTTATTTTTCACTTTTTCCTATTTCTGAATTTTTTTTTTTATTT
GTGATCTTGATTTTGATGAGGGGTTGGGGAGTGGGGAGGGAGTCGAACCAAGACTTGGAGTTAA
GAGGATTTTCATCTTTTGCATCCAACAGGCAGAATATGATCTGTGTCCAAAAGTGAACTTGAGT
CAGGAATGAATCAATTTCAGCATAAACAAGCACAAAAATTTAGTCTGCTGGCTGACTGGAAGCA
AAAAAGTCAAGATGGAATATGATGAATTCCAACACAATGGGGCACCAAGGCCTTTAGGCCTCTC
TTTTTATTTTGCTTTGGTTTTGTTTGTTTTTCTTTAGAGACATGCTCTTTCTCATGGGACTTGA
AGTGGACTCATCTTTGTGCAGTGCTGGTTTTGCCATACTCATTTCAAGTATTATAGACATATGT
AATGGTGAAAATATATGAACTGTGGCCTTTTTCATTCTTGTTACTTGTGATGCAATTAAGTGAA
GATAAGAAAAAAAAAAAAAAAGCAGAGATTTACCATGTATCAGTGCCTGGCTTTTTGTTATAAA
GCTTTGTTTGTCTAGTGCTCTTTTGCTATAAAATAGACTGTAGTACACCCTAGTAGGAAAAAAA
AAAAACTAAATTTAAAAATAAAAAATATATTTGGCTTATTTTTCGCAGGAGCAATCCTTTTATA
CCATGAATATTACAAAAAAATTGTCAGATTCTGAATATTTCTTCTTTGTAGATTTTTGGAATCA
TTATGAGTAAAAGTTTGTTACTTTATTTTACTATTTAAAAGATGTTATTTTACCATGTGTTACC
AAGATGAAACTGTATGGGTAGCTTTTTTGTTTGTTTTTTGTTTTGTTTTTGTTTTTGTTTTTGT
TTTTAGTTGTAGGTCGCAGCGGGGAAATTTTTTGCGACTGTACACATAGCTGCAGCATTAAAAA
CTTAAAAAAATTGTTAAAAAAAAAAAAAGGGAAAACATTTCAAAAAAAAAAAAAAAGATAAACA
GTTACACCTTGTTTTCAATGTGTGGCTGAGTGCCTCGATTTTTTCATGTTTTTGGTGTATTTCT
GATTTGTAGAAGTGTCCAAACAGGTTGTGTGCTGGAGTTCCTTCAAGACAAAAACAAACCCAGC
TTGGTCAAGGCCATTACCTGTTTCCCATCTGTAGTTATTCGATGAAGTCATGTACATGACCGTT
CTGTAGCAATAAATGTGCCATTTTTATAAACTGTTTCTGACACTTGTTTCATTTCATTTTGCAT
TGTCCATATAGCTATGATTCTCTTCTGTAAGTAAAACGCATCTATATTTCATTTTCCAAGTGTT
GGAGGTATTGACAGCTTAACAAACAAAACATACAAAAAAAATCACAAAAACAAATTGAAAAGCA
AAGCACATGATTGATCAAGGAAGAGATGCCCTTAATGAAAATGGAACGGGATGCATGCAAAACA
AAAAGAAAACTGTCTAGAGGATTAACTAATTGAAGGAATATAATTAATGTGTGTGTAACACTGA
AGCTATGCATTTGAAGAGCTCTGAACTGCACCAGTGTTTTCGGTTGTGCTGCAGGTTGCTAAGT
CAAGTCAGCCTTAACCTTTTGCACCAGTTGGTCGGCTGTTTGGCAGAACATTCTCAGATCTTTT
CAGTCAAAAATCTAAGATGATTTATTTTGTATCACTTTGTTAAAAGCTGAATATTGTTAACTAC
AGTTAATATTAACACTGTATTTATACTTTCTCAAACTACATCCGCCCCACCACTTCTGGTTGCC
TCTGTTGACTATTAATCCAGATGTAAACAACCAGATGTTTTTTTCTAACTTGTACAAACTGACG
TGTGTCAACTATCATGGAAGGAAAAAAATGTACAGATTAAAATTATTCAGTGTTATGTACTGTA
AGTTAATATTTTTGTAGAATGGACATCAATCTACTTTGCAAAATTTGGAGGCTATTTCAACATT
GCACTGTAGAAATGTAAAGTAATGTATGCAATGTAAAGGAAAGCCCGCGGTAGCTGAGCGCTTC
ATAACAGAATGTTCTAATCAAGTACGTGGTATTTGGGGATGTCTCCAATATTGCTCTTGTATTC
TTTCTAATTGGGTTTAGTGACTAGTTGAAGGAAAATGTTATAACGCCATTTGGTTCACATGTGA
AGTGCCCTCCATAGCCAAATGTTGGGATTTTTTTTTTTTTCGTTTTTGGTTGGACTGTTTGCAG
ATATTTAAATTTTATGAAATTTCCAAAGATTTTGGTTGATAACCCCCTTTTACCTTCTAAATGA
TTTGAGATGTTCTTATGTTCTTACTGTGTGTTTTAAATATATATAAAAGAGCCACAAGCATTTA
GTCTTTTAGTATTATATTTGATCATATAACTACTACTGAAAAGGGGTGGGGGGGAATGTGCCTG
TGCACCCCTACAGTATCTTGTGTAGTGTCTATTAACATTGTTCTCTTTTAGAGGACCACATTAA
AAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001369568 ⟹ NP_001356497

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,588,617 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,791,669 (-)	NCBI

Sequence:

show sequence

GTGAGTGAGAGGGAACGAGAGTAAGAGAAAGAAAGAAGTGAGGGGATGTAAACTCGAATAAATT
TCAAAGTGCCTCCGAGGGATGCAACGGGCAAAAACTGAACTGTTCAGGCTTCAGATTGTAACTG
ACGATCTGAGGAAAAATGAGGTTTGTGTGATTTTGCTAAAATGCATCACCAACAGCGAATGGCT
GCCTTAGGGACGGACAAAGAGCTGAGTGATTTACTGGATTTCAGTGCGATGTTTTCACCTCCTG
TGAGCAGTGGGAAAAATGGACCAACTTCTTTGGCAAGTGGACATTTTACTGGCTCAAATGTAGA
AGACAGAAGTAGCTCAGGGTCCTGGGGGAATGGAGGACATCCAAGCCCGTCCAGGAACTATGGA
GATGGGACTCCCTATGACCACATGACCAGCAGGGACCTTGGGTCACATGACAATCTCTCTCCAC
CTTTTGTCAATTCCAGAATACAAAGTAAAACAGAAAGGGGCTCATACTCATCTTATGGGAGAGA
ATCAAACTTACAGGGTTGCCACCAGCAGAGTCTCCTTGGAGGTGACATGGATATGGGCAACCCA
GGAACCCTTTCGCCCACCAAACCTGGTTCCCAGTACTATCAGTATTCTAGCAATAATCCCCGAA
GGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGACAAAGAAAGTTCGAAAAGTTCCTCCAGG
TTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCACTGCCGACTACAATAGGGACTCGCCAGGC
TATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCTAGCTCCTTCTTCATGCAAGATGGCCATC
ACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTGGCTATGCAGGAATGTTGGG
CAACTCTTCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCATCCACATGAACGTTTGAGC
TATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCGATGTCCACTTTCCATCGTA
GTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCCAACGGGACAGACAGTATAAT
GGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCAGACTGGAGATGCTCTGGGGAAAGCACTT
GCTTCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATCAAACCCTTCAACTCCTGTTG
GCTCTCCTCCATCTCTCTCAGCAGGCACAGCTGTTTGGTCTAGAAATGGAGGACAGGCCTCATC
GTCTCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCGAATTGAAGATCGTTTAGAAAGA
CTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTG
GTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTC
AGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTGGGGACCCATCGTGAA
GATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTGCCAAACCAGGTTCCGGTTCCACAGCTTC
CTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCACCCCAGGACCCTTACAGAGGCATGCCACC
AGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTCTGAGATCAAATCCGATGACGAGGGTGAT
GAGAACCTGCAAGACACGAAATCTTCGGAGGACAAGAAATTAGATGACGACAAGAAGGATATCA
AATCAATTACTAGGTCAAGATCTAGCAATAATGACGATGAGGACCTGACACCAGAGCAGAAGGC
AGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCGTCTGCGGGTCCGTGACATC
AACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCTCAAGAGTGACAAGCCCCAGA
CCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAGTCTGGAGCAGCAAGTCCGAGA
AAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGGAAGAGAAGGTGTCCTCAGAG
CCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGAATGGGAGACGCATCGAATCACATGGGAC
AGATGTAAAAGGGTCCAAGTTGCCACATTGCTTCATTAAAACAAGAGACCACTTCCTTAACAGC
TGTATTATCTTAAACCCACATAAACACTTCTCCTTAACCCCCATTTTTGTAATATAAGACAAGT
CTGAGTAGTTATGAATCGCAGACGCAAGAGGTTTCAGCATTCCCAATTATCAAAAAACAGAAAA
ACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGACGACTTTCTTTAACATATCATTCAGAAT
GTGCAAAGCAGTATGTACAGGCTGAGACACAGCCCAGAGACTGAACGGCAATCTTTCCACACTG
TGGAACAATGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAAAATATAATTAATTTGTAAGTCT
GAAAAAAAAATATTTAATTTAAAAAAAATTGTAAACTTGCAATAATGAAAAAGTGTACTTCTGA
AGAAAACTACATGAACGTTTTTGTTGGTATTCAAGTCAGCTAGTGTTTATAATTACTGGATATT
GAATTAGGGGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAAACGTCCTGATGACAACGAAGTG
ATGACATTAGCCATTCCTTAGGGTAGGAGGAACAGATGGATCTTATAGACCTATGACAAATATA
TATATAAATATATATATAAATATATATTAAAAATTTAGTGACTATGGTAAGCTTTTGTTCATTT
GTTTCAGACTTTTTTCTCCTGTAAAAAAATAGTACTGATTAACTTTTTTAAAAGAAAGATTTTA
CTGTAAATATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCCCTTTCCCTGGTTTGTTATCGTA
ACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGATGAAATGCTGACCCTGATGTTGC
TTCTCATTCATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTTGGGAACACAGGACTTAAAAGT
CACATCATGTGTAGATATTACAAGCAGCATTACCAAGACATGGCAAAAAGAGTTTGTCTGAATT
GTAATGTTGCGTTTGTGAACCTATTCTGGGATTTTCAGAGGTACAAGGTTAGAATGCTACAATG
TTACCACTGTGCCTTCCAATGTTTATATCATCGGAAACATAACATAATCAAAGTGGCTGTGATT
TAACAAAATGATTAAAGTGTTACCTACCTGTGTAGCCGAAGTAGTGTGCAGTGAGGCGTTTCTG
AATACATGGTCAGATTTTTGGAAAAAAACAAAAACAAAAAAAACAAGTAAAGTTCAAAAACCGT
CAAATGAGAAAATTGCAAGTAGTGTGACAGAGCTGATTGATTTTGTTGCTTTCTTGATTTTTTT
TTTCAAAATGGGTTTACTAAAATGTAGATGACTTAACTGCCTCCTCCTTCGTCTGAAAAATGCC
AATATTCAATCATCATGCAGCATTATAACAAGCCTTATAAGTCCTAAAGCATTAAGTTGCACTT
TTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAATGAAGTTTATACTTACCATATT
TGATAGAAACATAGATCAAGCTATGGCACAGCGACTCATCAGATAGCTAGCTTTGACGTCTGGG
CACAATTGAACCAACTTCCATCGTGAATCTTTATAATGATTGACTTTGGTGTATAGTGCAGTAA
ACAAATAGTGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTGTCTCTAACTTGTTTCTATTTTT
ACAGCCACACAATTCTTGGCATGTATTAAGAAAAAAAAAAATCCCTGTTCAAGTAGTTTTTCCA
CCTATCAGCACTGAGTAAATGCCATAAATCCATTGAAATGGTCTAAATGTTCCATCTGTTCTCC
TGTTTTGCCAGTTATATAGTAATGAAATACATTTGTAAATTTTATGCAACAAATGGCAAACGTA
TCATTATTTTGAAATTGTGTATGTAAAAGTTATATTTTTACATGTAGACTCTTGTTATTATGTG
TTTTAATACATTGTATCAGTTTTTGTTTTTTTTTAAAAACTGTGGTTTAAAAAGAAGTCTCATT
TAAATGAAATAGCTACAAGAATCAGAATTTTATGTTCATTTCTGAAAATGTAAGAACAAATAAG
ATAGTTACCACGTGGTCATCTTTTACAAACCCATAAACATTTTGATTAGCTGTGTGTGTGTTGA
AAAACTGTAAATATGTTCAGTAGCGATAAAACTAAAATAACTTTGATTTGTTGATAAGTTCCTA
AAATGTGGAGGTGGATTAAAACCTTAGGAGAATAGCAGAAATCAAACTTCATGAAAAGTTATTT
TGGGGCTTTCCTGTGAAATGTATGAACAAAGAGGCTCAGAGAAGGACATGGAAGACAATAATGT
ATACTCTCTCCTCCTCCCTGAATAATGAAAACCATGTGTATTTGTTCCCTCCGTATGTTAAAGA
TTTCCTTTTAGTGGTACATTCTGCACTCATTTTGTATAGTCTACCAAGGCGGGTATCCCTAGGA
ACAATATTATATAGGAAGCAGGTATACTCTGATCACATTCAGGATAAGTGTACAGAAGAAAATA
CGGTGTTTACTCTTTAGGGAACTGGAAACACTCCCTGCATTGATGTACATTTTAAGAATGGCAC
TTTTGATACATGTTATCATAAAGGTGCTTAATAGAGCTGAATTAAAGTTTTTCAAATCTGTAAA
CAAAGCAAAAAAGTAAATTGTAGTCATTTGATTATTTTTTAAATTGGTGCTTTATATTTTGTTC
TCACTCAGAGTAAAAGCTGCAATTTATTGTTCACCAGCTTTGATGTATTCATTACTCAGTAATG
CAATACCTCTATTGTTGAATTCCCTTTGGAAATAAGTGAAAATTCTAACGGCCACTGAAAGCTG
CTCGCTAGGTTTTGCTTGGTGGAGAAACATAATCTGCACCTATCCATATTAATTGGGTTGTATC
CCCATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTGTTTTTTATTGTTGTTGTTTTG
TAATTATCAAACCCAGGTAAGATATTGGTATCCTGCACTGGATTTTCAAATGAAGTTCAGCAGA
AGACAGTTAAGATTAAAGTACTATACAAAAATTTCAAAAGGGTCCATACTACGCTATCTGTATG
ACGACACTTAGGCTGGGGATCTCTTTCAGAAACTCGGACTTTAAAAGCAACTTGGAGCAGTTGA
TCCACCTCCACATTCAAGTAATTTATGAATATGCAGAATAGGGATCTGTTCATCTAGAAATTTT
TACCATTTGTCTTCTGTGTAGCTGCAAGGAACACTAATGTTTATACAACTGTCAGTCCACCCAG
TGGTGCAACTGGTTCTGATTCAGTCTTCCGATTCCTTTTTATTTTTCACTTTTTCCTATTTCTG
AATTTTTTTTTTTATTTGTGATCTTGATTTTGATGAGGGGTTGGGGAGTGGGGAGGGAGTCGAA
CCAAGACTTGGAGTTAAGAGGATTTTCATCTTTTGCATCCAACAGGCAGAATATGATCTGTGTC
CAAAAGTGAACTTGAGTCAGGAATGAATCAATTTCAGCATAAACAAGCACAAAAATTTAGTCTG
CTGGCTGACTGGAAGCAAAAAAGTCAAGATGGAATATGATGAATTCCAACACAATGGGGCACCA
AGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTGTTTTTCTTTAGAGACATGCTC
TTTCTCATGGGACTTGAAGTGGACTCATCTTTGTGCAGTGCTGGTTTTGCCATACTCATTTCAA
GTATTATAGACATATGTAATGGTGAAAATATATGAACTGTGGCCTTTTTCATTCTTGTTACTTG
TGATGCAATTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGAGATTTACCATGTATCAGTGCC
TGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCTATAAAATAGACTGTAGTACA
CCCTAGTAGGAAAAAAAAAAAACTAAATTTAAAAATAAAAAATATATTTGGCTTATTTTTCGCA
GGAGCAATCCTTTTATACCATGAATATTACAAAAAAATTGTCAGATTCTGAATATTTCTTCTTT
GTAGATTTTTGGAATCATTATGAGTAAAAGTTTGTTACTTTATTTTACTATTTAAAAGATGTTA
TTTTACCATGTGTTACCAAGATGAAACTGTATGGGTAGCTTTTTTGTTTGTTTTTTGTTTTGTT
TTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAATTTTTTGCGACTGTACACAT
AGCTGCAGCATTAAAAACTTAAAAAAATTGTTAAAAAAAAAAAAAGGGAAAACATTTCAAAAAA
AAAAAAAAAGATAAACAGTTACACCTTGTTTTCAATGTGTGGCTGAGTGCCTCGATTTTTTCAT
GTTTTTGGTGTATTTCTGATTTGTAGAAGTGTCCAAACAGGTTGTGTGCTGGAGTTCCTTCAAG
ACAAAAACAAACCCAGCTTGGTCAAGGCCATTACCTGTTTCCCATCTGTAGTTATTCGATGAAG
TCATGTACATGACCGTTCTGTAGCAATAAATGTGCCATTTTTATAAACTGTTTCTGACACTTGT
TTCATTTCATTTTGCATTGTCCATATAGCTATGATTCTCTTCTGTAAGTAAAACGCATCTATAT
TTCATTTTCCAAGTGTTGGAGGTATTGACAGCTTAACAAACAAAACATACAAAAAAAATCACAA
AAACAAATTGAAAAGCAAAGCACATGATTGATCAAGGAAGAGATGCCCTTAATGAAAATGGAAC
GGGATGCATGCAAAACAAAAAGAAAACTGTCTAGAGGATTAACTAATTGAAGGAATATAATTAA
TGTGTGTGTAACACTGAAGCTATGCATTTGAAGAGCTCTGAACTGCACCAGTGTTTTCGGTTGT
GCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACCAGTTGGTCGGCTGTTTGGCAGA
ACATTCTCAGATCTTTTCAGTCAAAAATCTAAGATGATTTATTTTGTATCACTTTGTTAAAAGC
TGAATATTGTTAACTACAGTTAATATTAACACTGTATTTATACTTTCTCAAACTACATCCGCCC
CACCACTTCTGGTTGCCTCTGTTGACTATTAATCCAGATGTAAACAACCAGATGTTTTTTTCTA
ACTTGTACAAACTGACGTGTGTCAACTATCATGGAAGGAAAAAAATGTACAGATTAAAATTATT
CAGTGTTATGTACTGTAAGTTAATATTTTTGTAGAATGGACATCAATCTACTTTGCAAAATTTG
GAGGCTATTTCAACATTGCACTGTAGAAATGTAAAGTAATGTATGCAATGTAAAGGAAAGCCCG
CGGTAGCTGAGCGCTTCATAACAGAATGTTCTAATCAAGTACGTGGTATTTGGGGATGTCTCCA
ATATTGCTCTTGTATTCTTTCTAATTGGGTTTAGTGACTAGTTGAAGGAAAATGTTATAACGCC
ATTTGGTTCACATGTGAAGTGCCCTCCATAGCCAAATGTTGGGATTTTTTTTTTTTTCGTTTTT
GGTTGGACTGTTTGCAGATATTTAAATTTTATGAAATTTCCAAAGATTTTGGTTGATAACCCCC
TTTTACCTTCTAAATGATTTGAGATGTTCTTATGTTCTTACTGTGTGTTTTAAATATATATAAA
AGAGCCACAAGCATTTAGTCTTTTAGTATTATATTTGATCATATAACTACTACTGAAAAGGGGT
GGGGGGGAATGTGCCTGTGCACCCCTACAGTATCTTGTGTAGTGTCTATTAACATTGTTCTCTT
TTAGAGGACCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001369569 ⟹ NP_001356498

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,588,617 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,791,669 (-)	NCBI

Sequence:

show sequence

GTGAGTGAGAGGGAACGAGAGTAAGAGAAAGAAAGAAGTGAGGGGATGTAAACTCGAATAAATT
TCAAAGTGCCTCCGAGGGATGCAACGGGCAAAAACTGAACTGTTCAGGCTTCAGATTGTAACTG
ACGATCTGAGGAAAAATGAGGTTTGTGTGATTTTGCTAAAATGCATCACCAACAGCGAATGGCT
GCCTTAGGGACGGACAAAGAGCTGAGTGATTTACTGGATTTCAGTGCGATGTTTTCACCTCCTG
TGAGCAGTGGGAAAAATGGACCAACTTCTTTGGCAAGTGGACATTTTACTGGCTCAAATGTAGA
AGACAGAAGTAGCTCAGGGTCCTGGGGGAATGGAGGACATCCAAGCCCGTCCAGGAACTATGGA
GATGGGACTCCCTATGACCACATGACCAGCAGGGACCTTGGGTCACATGACAATCTCTCTCCAC
CTTTTGTCAATTCCAGAATACAAAGTAAAACAGAAAGGGGCTCATACTCATCTTATGGGAGAGA
ATCAAACTTACAGGGTTGCCACCAGAGTCTCCTTGGAGGTGACATGGATATGGGCAACCCAGGA
ACCCTTTCGCCCACCAAACCTGGTTCCCAGTACTATCAGTATTCTAGCAATAATCCCCGAAGGA
GGCCTCTTCACAGTAGTGCCATGGAGGTACAGACAAAGAAAGTTCGAAAAGTTCCTCCAGGTTT
GCCATCTTCAGTCTATGCTCCATCAGCAAGCACTGCCGACTACAATAGGGACTCGCCAGGCTAT
CCTTCCTCCAAACCAGCAACCAGCACTTTCCCTAGCTCCTTCTTCATGCAAGATGGCCATCACA
GCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTGGCTATGCAGGAATGTTGGGCAA
CTCTTCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCATCCACATGAACGTTTGAGCTAT
CCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCGATGTCCACTTTCCATCGTAGTG
GTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCCAACGGGACAGACAGTATAATGGC
AAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCAGACTGGAGATGCTCTGGGGAAAGCACTTGCT
TCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATCAAACCCTTCAACTCCTGTTGGCT
CTCCTCCATCTCTCTCAGCAGGCACAGCTGTTTGGTCTAGAAATGGAGGACAGGCCTCATCGTC
TCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTG
GATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTC
ATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGG
GTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTGGGGACCCATCGTGAAGAT
GGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTGCCAAACCAGGTTCCGGTTCCACAGCTTCCTG
TCCAGTCTGCGACTTCCCCTGACCTGAACCCACCCCAGGACCCTTACAGAGGCATGCCACCAGG
ACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTCTGAGATCAAATCCGATGACGAGGGTGATGAG
AACCTGCAAGACACGAAATCTTCGGAGGACAAGAAATTAGATGACGACAAGAAGGATATCAAAT
CAATTACTAGGTCAAGATCTAGCAATAATGACGATGAGGACCTGACACCAGAGCAGAAGGCAGA
GCGTGAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCGTCTGCGGGTCCGTGACATCAAC
GAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCTCAAGAGTGACAAGCCCCAGACCA
AGCTCCTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAGTCTGGAGCAGCAAGTCCGAGAAAG
GAATCTGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGGAAGAGAAGGTGTCCTCAGAGCCT
CCCCCTCTCTCCTTGGCCGGCCCACACCCTGGAATGGGAGACGCATCGAATCACATGGGACAGA
TGTAAAAGGGTCCAAGTTGCCACATTGCTTCATTAAAACAAGAGACCACTTCCTTAACAGCTGT
ATTATCTTAAACCCACATAAACACTTCTCCTTAACCCCCATTTTTGTAATATAAGACAAGTCTG
AGTAGTTATGAATCGCAGACGCAAGAGGTTTCAGCATTCCCAATTATCAAAAAACAGAAAAACA
AAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGACGACTTTCTTTAACATATCATTCAGAATGTG
CAAAGCAGTATGTACAGGCTGAGACACAGCCCAGAGACTGAACGGCAATCTTTCCACACTGTGG
AACAATGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAAAATATAATTAATTTGTAAGTCTGAA
AAAAAAATATTTAATTTAAAAAAAATTGTAAACTTGCAATAATGAAAAAGTGTACTTCTGAAGA
AAACTACATGAACGTTTTTGTTGGTATTCAAGTCAGCTAGTGTTTATAATTACTGGATATTGAA
TTAGGGGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAAACGTCCTGATGACAACGAAGTGATG
ACATTAGCCATTCCTTAGGGTAGGAGGAACAGATGGATCTTATAGACCTATGACAAATATATAT
ATAAATATATATATAAATATATATTAAAAATTTAGTGACTATGGTAAGCTTTTGTTCATTTGTT
TCAGACTTTTTTCTCCTGTAAAAAAATAGTACTGATTAACTTTTTTAAAAGAAAGATTTTACTG
TAAATATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCCCTTTCCCTGGTTTGTTATCGTAACC
TGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGATGAAATGCTGACCCTGATGTTGCTTC
TCATTCATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTTGGGAACACAGGACTTAAAAGTCAC
ATCATGTGTAGATATTACAAGCAGCATTACCAAGACATGGCAAAAAGAGTTTGTCTGAATTGTA
ATGTTGCGTTTGTGAACCTATTCTGGGATTTTCAGAGGTACAAGGTTAGAATGCTACAATGTTA
CCACTGTGCCTTCCAATGTTTATATCATCGGAAACATAACATAATCAAAGTGGCTGTGATTTAA
CAAAATGATTAAAGTGTTACCTACCTGTGTAGCCGAAGTAGTGTGCAGTGAGGCGTTTCTGAAT
ACATGGTCAGATTTTTGGAAAAAAACAAAAACAAAAAAAACAAGTAAAGTTCAAAAACCGTCAA
ATGAGAAAATTGCAAGTAGTGTGACAGAGCTGATTGATTTTGTTGCTTTCTTGATTTTTTTTTT
CAAAATGGGTTTACTAAAATGTAGATGACTTAACTGCCTCCTCCTTCGTCTGAAAAATGCCAAT
ATTCAATCATCATGCAGCATTATAACAAGCCTTATAAGTCCTAAAGCATTAAGTTGCACTTTTT
TGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAATGAAGTTTATACTTACCATATTTGA
TAGAAACATAGATCAAGCTATGGCACAGCGACTCATCAGATAGCTAGCTTTGACGTCTGGGCAC
AATTGAACCAACTTCCATCGTGAATCTTTATAATGATTGACTTTGGTGTATAGTGCAGTAAACA
AATAGTGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTGTCTCTAACTTGTTTCTATTTTTACA
GCCACACAATTCTTGGCATGTATTAAGAAAAAAAAAAATCCCTGTTCAAGTAGTTTTTCCACCT
ATCAGCACTGAGTAAATGCCATAAATCCATTGAAATGGTCTAAATGTTCCATCTGTTCTCCTGT
TTTGCCAGTTATATAGTAATGAAATACATTTGTAAATTTTATGCAACAAATGGCAAACGTATCA
TTATTTTGAAATTGTGTATGTAAAAGTTATATTTTTACATGTAGACTCTTGTTATTATGTGTTT
TAATACATTGTATCAGTTTTTGTTTTTTTTTAAAAACTGTGGTTTAAAAAGAAGTCTCATTTAA
ATGAAATAGCTACAAGAATCAGAATTTTATGTTCATTTCTGAAAATGTAAGAACAAATAAGATA
GTTACCACGTGGTCATCTTTTACAAACCCATAAACATTTTGATTAGCTGTGTGTGTGTTGAAAA
ACTGTAAATATGTTCAGTAGCGATAAAACTAAAATAACTTTGATTTGTTGATAAGTTCCTAAAA
TGTGGAGGTGGATTAAAACCTTAGGAGAATAGCAGAAATCAAACTTCATGAAAAGTTATTTTGG
GGCTTTCCTGTGAAATGTATGAACAAAGAGGCTCAGAGAAGGACATGGAAGACAATAATGTATA
CTCTCTCCTCCTCCCTGAATAATGAAAACCATGTGTATTTGTTCCCTCCGTATGTTAAAGATTT
CCTTTTAGTGGTACATTCTGCACTCATTTTGTATAGTCTACCAAGGCGGGTATCCCTAGGAACA
ATATTATATAGGAAGCAGGTATACTCTGATCACATTCAGGATAAGTGTACAGAAGAAAATACGG
TGTTTACTCTTTAGGGAACTGGAAACACTCCCTGCATTGATGTACATTTTAAGAATGGCACTTT
TGATACATGTTATCATAAAGGTGCTTAATAGAGCTGAATTAAAGTTTTTCAAATCTGTAAACAA
AGCAAAAAAGTAAATTGTAGTCATTTGATTATTTTTTAAATTGGTGCTTTATATTTTGTTCTCA
CTCAGAGTAAAAGCTGCAATTTATTGTTCACCAGCTTTGATGTATTCATTACTCAGTAATGCAA
TACCTCTATTGTTGAATTCCCTTTGGAAATAAGTGAAAATTCTAACGGCCACTGAAAGCTGCTC
GCTAGGTTTTGCTTGGTGGAGAAACATAATCTGCACCTATCCATATTAATTGGGTTGTATCCCC
ATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTGTTTTTTATTGTTGTTGTTTTGTAA
TTATCAAACCCAGGTAAGATATTGGTATCCTGCACTGGATTTTCAAATGAAGTTCAGCAGAAGA
CAGTTAAGATTAAAGTACTATACAAAAATTTCAAAAGGGTCCATACTACGCTATCTGTATGACG
ACACTTAGGCTGGGGATCTCTTTCAGAAACTCGGACTTTAAAAGCAACTTGGAGCAGTTGATCC
ACCTCCACATTCAAGTAATTTATGAATATGCAGAATAGGGATCTGTTCATCTAGAAATTTTTAC
CATTTGTCTTCTGTGTAGCTGCAAGGAACACTAATGTTTATACAACTGTCAGTCCACCCAGTGG
TGCAACTGGTTCTGATTCAGTCTTCCGATTCCTTTTTATTTTTCACTTTTTCCTATTTCTGAAT
TTTTTTTTTTATTTGTGATCTTGATTTTGATGAGGGGTTGGGGAGTGGGGAGGGAGTCGAACCA
AGACTTGGAGTTAAGAGGATTTTCATCTTTTGCATCCAACAGGCAGAATATGATCTGTGTCCAA
AAGTGAACTTGAGTCAGGAATGAATCAATTTCAGCATAAACAAGCACAAAAATTTAGTCTGCTG
GCTGACTGGAAGCAAAAAAGTCAAGATGGAATATGATGAATTCCAACACAATGGGGCACCAAGG
CCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTGTTTTTCTTTAGAGACATGCTCTTT
CTCATGGGACTTGAAGTGGACTCATCTTTGTGCAGTGCTGGTTTTGCCATACTCATTTCAAGTA
TTATAGACATATGTAATGGTGAAAATATATGAACTGTGGCCTTTTTCATTCTTGTTACTTGTGA
TGCAATTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGAGATTTACCATGTATCAGTGCCTGG
CTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCTATAAAATAGACTGTAGTACACCC
TAGTAGGAAAAAAAAAAAACTAAATTTAAAAATAAAAAATATATTTGGCTTATTTTTCGCAGGA
GCAATCCTTTTATACCATGAATATTACAAAAAAATTGTCAGATTCTGAATATTTCTTCTTTGTA
GATTTTTGGAATCATTATGAGTAAAAGTTTGTTACTTTATTTTACTATTTAAAAGATGTTATTT
TACCATGTGTTACCAAGATGAAACTGTATGGGTAGCTTTTTTGTTTGTTTTTTGTTTTGTTTTT
GTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAATTTTTTGCGACTGTACACATAGC
TGCAGCATTAAAAACTTAAAAAAATTGTTAAAAAAAAAAAAAGGGAAAACATTTCAAAAAAAAA
AAAAAAGATAAACAGTTACACCTTGTTTTCAATGTGTGGCTGAGTGCCTCGATTTTTTCATGTT
TTTGGTGTATTTCTGATTTGTAGAAGTGTCCAAACAGGTTGTGTGCTGGAGTTCCTTCAAGACA
AAAACAAACCCAGCTTGGTCAAGGCCATTACCTGTTTCCCATCTGTAGTTATTCGATGAAGTCA
TGTACATGACCGTTCTGTAGCAATAAATGTGCCATTTTTATAAACTGTTTCTGACACTTGTTTC
ATTTCATTTTGCATTGTCCATATAGCTATGATTCTCTTCTGTAAGTAAAACGCATCTATATTTC
ATTTTCCAAGTGTTGGAGGTATTGACAGCTTAACAAACAAAACATACAAAAAAAATCACAAAAA
CAAATTGAAAAGCAAAGCACATGATTGATCAAGGAAGAGATGCCCTTAATGAAAATGGAACGGG
ATGCATGCAAAACAAAAAGAAAACTGTCTAGAGGATTAACTAATTGAAGGAATATAATTAATGT
GTGTGTAACACTGAAGCTATGCATTTGAAGAGCTCTGAACTGCACCAGTGTTTTCGGTTGTGCT
GCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACCAGTTGGTCGGCTGTTTGGCAGAACA
TTCTCAGATCTTTTCAGTCAAAAATCTAAGATGATTTATTTTGTATCACTTTGTTAAAAGCTGA
ATATTGTTAACTACAGTTAATATTAACACTGTATTTATACTTTCTCAAACTACATCCGCCCCAC
CACTTCTGGTTGCCTCTGTTGACTATTAATCCAGATGTAAACAACCAGATGTTTTTTTCTAACT
TGTACAAACTGACGTGTGTCAACTATCATGGAAGGAAAAAAATGTACAGATTAAAATTATTCAG
TGTTATGTACTGTAAGTTAATATTTTTGTAGAATGGACATCAATCTACTTTGCAAAATTTGGAG
GCTATTTCAACATTGCACTGTAGAAATGTAAAGTAATGTATGCAATGTAAAGGAAAGCCCGCGG
TAGCTGAGCGCTTCATAACAGAATGTTCTAATCAAGTACGTGGTATTTGGGGATGTCTCCAATA
TTGCTCTTGTATTCTTTCTAATTGGGTTTAGTGACTAGTTGAAGGAAAATGTTATAACGCCATT
TGGTTCACATGTGAAGTGCCCTCCATAGCCAAATGTTGGGATTTTTTTTTTTTTCGTTTTTGGT
TGGACTGTTTGCAGATATTTAAATTTTATGAAATTTCCAAAGATTTTGGTTGATAACCCCCTTT
TACCTTCTAAATGATTTGAGATGTTCTTATGTTCTTACTGTGTGTTTTAAATATATATAAAAGA
GCCACAAGCATTTAGTCTTTTAGTATTATATTTGATCATATAACTACTACTGAAAAGGGGTGGG
GGGGAATGTGCCTGTGCACCCCTACAGTATCTTGTGTAGTGTCTATTAACATTGTTCTCTTTTA
GAGGACCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001369570 ⟹ NP_001356499

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,588,192 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,791,244 (-)	NCBI

Sequence:

show sequence

GCGGATCTGTAGTGGCGGCGGCGGCGGCGGCGGCGGGGAGGCAGCAGGCGCGGGAGCGGGCGCA
GGAGCAGGCGGCGGCGGTGGCGGCGGCGGTTAGACATGAACGCCGCCTCGGCGCCGGCGGTGCA
CGGAGAGCCCCTTCTCGCGCGCGGGCGGTTTGTGTGATTTTGCTAAAATGCATCACCAACAGCG
AATGGCTGCCTTAGGGACGGACAAAGAGCTGAGTGATTTACTGGATTTCAGTGCGATGTTTTCA
CCTCCTGTGAGCAGTGGGAAAAATGGACCAACTTCTTTGGCAAGTGGACATTTTACTGGCTCAA
ATGTAGAAGACAGAAGTAGCTCAGGGTCCTGGGGGAATGGAGGACATCCAAGCCCGTCCAGGAA
CTATGGAGATGGGACTCCCTATGACCACATGACCAGCAGGGACCTTGGGTCACATGACAATCTC
TCTCCACCTTTTGTCAATTCCAGAATACAAAGTAAAACAGAAAGGGGCTCATACTCATCTTATG
GGAGAGAATCAAACTTACAGGGTTGCCACCAGAGTCTCCTTGGAGGTGACATGGATATGGGCAA
CCCAGGAACCCTTTCGCCCACCAAACCTGGTTCCCAGTACTATCAGTATTCTAGCAATAATCCC
CGAAGGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGACAAAGAAAGTTCGAAAAGTTCCTC
CAGGTTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCACTGCCGACTACAATAGGGACTCGCC
AGGCTATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCTAGCTCCTTCTTCATGCAAGATGGC
CATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTGGCTATGCAGGAATGT
TGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCATCCACATGAACGTTT
GAGCTATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCGATGTCCACTTTCCAT
CGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCCAACGGGACAGACAGTA
TAATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCAGACTGGAGATGCTCTGGGGAAAGC
ACTTGCTTCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATCAAACCCTTCAACTCCT
GTTGGCTCTCCTCCATCTCTCTCAGCAGGCACAGCTGTTTGGTCTAGAAATGGAGGACAGGCCT
CATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCGAATTGAAGATCGTTTAGA
AAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCT
GGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGG
GCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTGGGGACCCATCG
TGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTGCCAAACCAGGTTCCGGTTCCACAG
CTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCACCCCAGGACCCTTACAGAGGCATGC
CACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTCTGAGATCAAATCCGATGACGAGGG
TGATGAGAACCTGCAAGACACGAAATCTTCGGAGGACAAGAAATTAGATGACGACAAGAAGGAT
ATCAAATCAATTACTAGGTCAAGATCTAGCAATAATGACGATGAGGACCTGACACCAGAGCAGA
AGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCGTCTGCGGGTCCGTGA
CATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCTCAAGAGTGACAAGCCC
CAGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAGTCTGGAGCAGCAAGTCC
GAGAAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGGAAGAGAAGGTGTCCTC
AGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGAATGGGAGACGCATCGAATCACATG
GGACAGATGTAAAAGGGTCCAAGTTGCCACATTGCTTCATTAAAACAAGAGACCACTTCCTTAA
CAGCTGTATTATCTTAAACCCACATAAACACTTCTCCTTAACCCCCATTTTTGTAATATAAGAC
AAGTCTGAGTAGTTATGAATCGCAGACGCAAGAGGTTTCAGCATTCCCAATTATCAAAAAACAG
AAAAACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGACGACTTTCTTTAACATATCATTCA
GAATGTGCAAAGCAGTATGTACAGGCTGAGACACAGCCCAGAGACTGAACGGCAATCTTTCCAC
ACTGTGGAACAATGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAAAATATAATTAATTTGTAA
GTCTGAAAAAAAAATATTTAATTTAAAAAAAATTGTAAACTTGCAATAATGAAAAAGTGTACTT
CTGAAGAAAACTACATGAACGTTTTTGTTGGTATTCAAGTCAGCTAGTGTTTATAATTACTGGA
TATTGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAAACGTCCTGATGACAACGA
AGTGATGACATTAGCCATTCCTTAGGGTAGGAGGAACAGATGGATCTTATAGACCTATGACAAA
TATATATATAAATATATATATAAATATATATTAAAAATTTAGTGACTATGGTAAGCTTTTGTTC
ATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGTACTGATTAACTTTTTTAAAAGAAAGAT
TTTACTGTAAATATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCCCTTTCCCTGGTTTGTTAT
CGTAACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGATGAAATGCTGACCCTGATG
TTGCTTCTCATTCATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTTGGGAACACAGGACTTAA
AAGTCACATCATGTGTAGATATTACAAGCAGCATTACCAAGACATGGCAAAAAGAGTTTGTCTG
AATTGTAATGTTGCGTTTGTGAACCTATTCTGGGATTTTCAGAGGTACAAGGTTAGAATGCTAC
AATGTTACCACTGTGCCTTCCAATGTTTATATCATCGGAAACATAACATAATCAAAGTGGCTGT
GATTTAACAAAATGATTAAAGTGTTACCTACCTGTGTAGCCGAAGTAGTGTGCAGTGAGGCGTT
TCTGAATACATGGTCAGATTTTTGGAAAAAAACAAAAACAAAAAAAACAAGTAAAGTTCAAAAA
CCGTCAAATGAGAAAATTGCAAGTAGTGTGACAGAGCTGATTGATTTTGTTGCTTTCTTGATTT
TTTTTTTCAAAATGGGTTTACTAAAATGTAGATGACTTAACTGCCTCCTCCTTCGTCTGAAAAA
TGCCAATATTCAATCATCATGCAGCATTATAACAAGCCTTATAAGTCCTAAAGCATTAAGTTGC
ACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAATGAAGTTTATACTTACCA
TATTTGATAGAAACATAGATCAAGCTATGGCACAGCGACTCATCAGATAGCTAGCTTTGACGTC
TGGGCACAATTGAACCAACTTCCATCGTGAATCTTTATAATGATTGACTTTGGTGTATAGTGCA
GTAAACAAATAGTGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTGTCTCTAACTTGTTTCTAT
TTTTACAGCCACACAATTCTTGGCATGTATTAAGAAAAAAAAAAATCCCTGTTCAAGTAGTTTT
TCCACCTATCAGCACTGAGTAAATGCCATAAATCCATTGAAATGGTCTAAATGTTCCATCTGTT
CTCCTGTTTTGCCAGTTATATAGTAATGAAATACATTTGTAAATTTTATGCAACAAATGGCAAA
CGTATCATTATTTTGAAATTGTGTATGTAAAAGTTATATTTTTACATGTAGACTCTTGTTATTA
TGTGTTTTAATACATTGTATCAGTTTTTGTTTTTTTTTAAAAACTGTGGTTTAAAAAGAAGTCT
CATTTAAATGAAATAGCTACAAGAATCAGAATTTTATGTTCATTTCTGAAAATGTAAGAACAAA
TAAGATAGTTACCACGTGGTCATCTTTTACAAACCCATAAACATTTTGATTAGCTGTGTGTGTG
TTGAAAAACTGTAAATATGTTCAGTAGCGATAAAACTAAAATAACTTTGATTTGTTGATAAGTT
CCTAAAATGTGGAGGTGGATTAAAACCTTAGGAGAATAGCAGAAATCAAACTTCATGAAAAGTT
ATTTTGGGGCTTTCCTGTGAAATGTATGAACAAAGAGGCTCAGAGAAGGACATGGAAGACAATA
ATGTATACTCTCTCCTCCTCCCTGAATAATGAAAACCATGTGTATTTGTTCCCTCCGTATGTTA
AAGATTTCCTTTTAGTGGTACATTCTGCACTCATTTTGTATAGTCTACCAAGGCGGGTATCCCT
AGGAACAATATTATATAGGAAGCAGGTATACTCTGATCACATTCAGGATAAGTGTACAGAAGAA
AATACGGTGTTTACTCTTTAGGGAACTGGAAACACTCCCTGCATTGATGTACATTTTAAGAATG
GCACTTTTGATACATGTTATCATAAAGGTGCTTAATAGAGCTGAATTAAAGTTTTTCAAATCTG
TAAACAAAGCAAAAAAGTAAATTGTAGTCATTTGATTATTTTTTAAATTGGTGCTTTATATTTT
GTTCTCACTCAGAGTAAAAGCTGCAATTTATTGTTCACCAGCTTTGATGTATTCATTACTCAGT
AATGCAATACCTCTATTGTTGAATTCCCTTTGGAAATAAGTGAAAATTCTAACGGCCACTGAAA
GCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACATAATCTGCACCTATCCATATTAATTGGGTTG
TATCCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTGTTTTTTATTGTTGTTGT
TTTGTAATTATCAAACCCAGGTAAGATATTGGTATCCTGCACTGGATTTTCAAATGAAGTTCAG
CAGAAGACAGTTAAGATTAAAGTACTATACAAAAATTTCAAAAGGGTCCATACTACGCTATCTG
TATGACGACACTTAGGCTGGGGATCTCTTTCAGAAACTCGGACTTTAAAAGCAACTTGGAGCAG
TTGATCCACCTCCACATTCAAGTAATTTATGAATATGCAGAATAGGGATCTGTTCATCTAGAAA
TTTTTACCATTTGTCTTCTGTGTAGCTGCAAGGAACACTAATGTTTATACAACTGTCAGTCCAC
CCAGTGGTGCAACTGGTTCTGATTCAGTCTTCCGATTCCTTTTTATTTTTCACTTTTTCCTATT
TCTGAATTTTTTTTTTTATTTGTGATCTTGATTTTGATGAGGGGTTGGGGAGTGGGGAGGGAGT
CGAACCAAGACTTGGAGTTAAGAGGATTTTCATCTTTTGCATCCAACAGGCAGAATATGATCTG
TGTCCAAAAGTGAACTTGAGTCAGGAATGAATCAATTTCAGCATAAACAAGCACAAAAATTTAG
TCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGAATATGATGAATTCCAACACAATGGGGC
ACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTGTTTTTCTTTAGAGACAT
GCTCTTTCTCATGGGACTTGAAGTGGACTCATCTTTGTGCAGTGCTGGTTTTGCCATACTCATT
TCAAGTATTATAGACATATGTAATGGTGAAAATATATGAACTGTGGCCTTTTTCATTCTTGTTA
CTTGTGATGCAATTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGAGATTTACCATGTATCAG
TGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCTATAAAATAGACTGTAG
TACACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAAAATAAAAAATATATTTGGCTTATTTTT
CGCAGGAGCAATCCTTTTATACCATGAATATTACAAAAAAATTGTCAGATTCTGAATATTTCTT
CTTTGTAGATTTTTGGAATCATTATGAGTAAAAGTTTGTTACTTTATTTTACTATTTAAAAGAT
GTTATTTTACCATGTGTTACCAAGATGAAACTGTATGGGTAGCTTTTTTGTTTGTTTTTTGTTT
TGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAATTTTTTGCGACTGTAC
ACATAGCTGCAGCATTAAAAACTTAAAAAAATTGTTAAAAAAAAAAAAAGGGAAAACATTTCAA
AAAAAAAAAAAAAGATAAACAGTTACACCTTGTTTTCAATGTGTGGCTGAGTGCCTCGATTTTT
TCATGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTCCAAACAGGTTGTGTGCTGGAGTTCCTT
CAAGACAAAAACAAACCCAGCTTGGTCAAGGCCATTACCTGTTTCCCATCTGTAGTTATTCGAT
GAAGTCATGTACATGACCGTTCTGTAGCAATAAATGTGCCATTTTTATAAACTGTTTCTGACAC
TTGTTTCATTTCATTTTGCATTGTCCATATAGCTATGATTCTCTTCTGTAAGTAAAACGCATCT
ATATTTCATTTTCCAAGTGTTGGAGGTATTGACAGCTTAACAAACAAAACATACAAAAAAAATC
ACAAAAACAAATTGAAAAGCAAAGCACATGATTGATCAAGGAAGAGATGCCCTTAATGAAAATG
GAACGGGATGCATGCAAAACAAAAAGAAAACTGTCTAGAGGATTAACTAATTGAAGGAATATAA
TTAATGTGTGTGTAACACTGAAGCTATGCATTTGAAGAGCTCTGAACTGCACCAGTGTTTTCGG
TTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACCAGTTGGTCGGCTGTTTGG
CAGAACATTCTCAGATCTTTTCAGTCAAAAATCTAAGATGATTTATTTTGTATCACTTTGTTAA
AAGCTGAATATTGTTAACTACAGTTAATATTAACACTGTATTTATACTTTCTCAAACTACATCC
GCCCCACCACTTCTGGTTGCCTCTGTTGACTATTAATCCAGATGTAAACAACCAGATGTTTTTT
TCTAACTTGTACAAACTGACGTGTGTCAACTATCATGGAAGGAAAAAAATGTACAGATTAAAAT
TATTCAGTGTTATGTACTGTAAGTTAATATTTTTGTAGAATGGACATCAATCTACTTTGCAAAA
TTTGGAGGCTATTTCAACATTGCACTGTAGAAATGTAAAGTAATGTATGCAATGTAAAGGAAAG
CCCGCGGTAGCTGAGCGCTTCATAACAGAATGTTCTAATCAAGTACGTGGTATTTGGGGATGTC
TCCAATATTGCTCTTGTATTCTTTCTAATTGGGTTTAGTGACTAGTTGAAGGAAAATGTTATAA
CGCCATTTGGTTCACATGTGAAGTGCCCTCCATAGCCAAATGTTGGGATTTTTTTTTTTTTCGT
TTTTGGTTGGACTGTTTGCAGATATTTAAATTTTATGAAATTTCCAAAGATTTTGGTTGATAAC
CCCCTTTTACCTTCTAAATGATTTGAGATGTTCTTATGTTCTTACTGTGTGTTTTAAATATATA
TAAAAGAGCCACAAGCATTTAGTCTTTTAGTATTATATTTGATCATATAACTACTACTGAAAAG
GGGTGGGGGGGAATGTGCCTGTGCACCCCTACAGTATCTTGTGTAGTGTCTATTAACATTGTTC
TCTTTTAGAGGACCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001369571 ⟹ NP_001356500

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,589,811 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,792,862 (-)	NCBI

Sequence:

show sequence

CTCTTTATAAGCCCGCAGTTCCCGGATGTGAATGGATTACAATGTATCTTTCAGGGAAACCTAT
TATTATCAATGTGACTCCACGGGGGAGTCCATGGTGATGATGATGAGGAGGAGGATGATGATGA
TGAGACACCTCTAAACTTGGAACAAGTTTAAGACTTTATGAGAGAAGAAAAAAAATCACCAACA
AGAATTGTTTGAGGAAAAATTATAACTATCCTGTGTTCATTTTTTTTTTTATAAACAATAAGAA
AAAGTTGTTGGATTTTTTTTTAATGATTTCTTTTTTGGGGGAGGGAATTTTGTTGCAGTTTTAT
GGTGGAAAATGCAAAAACCAGAGCCAGGTGCATAATCTTGTAATCTGTGGATATCCCTGGAGCA
GGACTGAGTACCAGTTAAAATACTTTTTGGGGATACACATGTGAGATACTAAGTACTTGCAGAA
GATTTTTGTCTCTCTTTTTAAAGTCTCTTTCCTTGGAATATTGTGAGAATATTTGTGGCCATTT
AAGGTTTGTGTGATTTTGCTAAAATGCATCACCAACAGCGAATGGCTGCCTTAGGGACGGACAA
AGAGCTGAGTGATTTACTGGATTTCAGTGCGATGTTTTCACCTCCTGTGAGCAGTGGGAAAAAT
GGACCAACTTCTTTGGCAAGTGGACATTTTACTGGCTCAAATGTAGAAGACAGAAGTAGCTCAG
GGTCCTGGGGGAATGGAGGACATCCAAGCCCGTCCAGGAACTATGGAGATGGGACTCCCTATGA
CCACATGACCAGCAGGGACCTTGGGTCACATGACAATCTCTCTCCACCTTTTGTCAATTCCAGA
ATACAAAGTAAAACAGAAAGGGGCTCATACTCATCTTATGGGAGAGAATCAAACTTACAGGGTT
GCCACCAGCAGAGTCTCCTTGGAGGTGACATGGATATGGGCAACCCAGGAACCCTTTCGCCCAC
CAAACCTGGTTCCCAGTACTATCAGTATTCTAGCAATAATCCCCGAAGGAGGCCTCTTCACAGT
AGTGCCATGGAGGTACAGACAAAGAAAGTTCGAAAAGTTCCTCCAGGTTTGCCATCTTCAGTCT
ATGCTCCATCAGCAAGCACTGCCGACTACAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACC
AGCAACCAGCACTTTCCCTAGCTCCTTCTTCATGCAAGATGGCCATCACAGCAGTGACCCTTGG
AGCTCCTCCAGTGGGATGAATCAGCCTGGCTATGCAGGAATGTTGGGCAACTCTTCTCATATTC
CACAGTCCAGCAGCTACTGTAGCCTGCATCCACATGAACGTTTGAGCTATCCATCACACTCCTC
AGCAGACATCAATTCCAGTCTTCCTCCGATGTCCACTTTCCATCGTAGTGGTACAAACCATTAC
AGCACCTCTTCCTGTACGCCTCCTGCCAACGGGACAGACAGTATAATGGCAAATAGAGGAAGCG
GGGCAGCCGGCAGCTCCCAGACTGGAGATGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCC
AGATCACACTAACAACAGCTTTTCATCAAACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTC
TCAGCAGGCACAGCTGTTTGGTCTAGAAATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAG
GACCCTTACACTCTTTGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCA
TGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCAT
GGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCC
TTCTTTCAGCCAACAGACATTCACTCATGGTGGGGACCCATCGTGAAGATGGCGTGGCCCTGAG
AGGCAGCCATTCTCTTCTGCCAAACCAGGTTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACT
TCCCCTGACCTGAACCCACCCCAGGACCCTTACAGAGGCATGCCACCAGGACTACAGGGGCAGA
GTGTCTCCTCTGGCAGCTCTGAGATCAAATCCGATGACGAGGGTGATGAGAACCTGCAAGACAC
GAAATCTTCGGAGGACAAGAAATTAGATGACGACAAGAAGGATATCAAATCAATTACTAGCAAT
AATGACGATGAGGACCTGACACCAGAGCAGAAGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCA
ACAATGCCCGAGAGCGTCTGCGGGTCCGTGACATCAACGAGGCTTTCAAAGAGCTCGGCCGCAT
GGTGCAGCTCCACCTCAAGAGTGACAAGCCCCAGACCAAGCTCCTGATCCTCCACCAGGCGGTG
GCCGTCATCCTCAGTCTGGAGCAGCAAGTCCGAGAAAGGAATCTGAATCCGAAAGCTGCGTGTC
TGAAAAGAAGGGAGGAAGAGAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACA
CCCTGGAATGGGAGACGCATCGAATCACATGGGACAGATGTAAAAGGGTCCAAGTTGCCACATT
GCTTCATTAAAACAAGAGACCACTTCCTTAACAGCTGTATTATCTTAAACCCACATAAACACTT
CTCCTTAACCCCCATTTTTGTAATATAAGACAAGTCTGAGTAGTTATGAATCGCAGACGCAAGA
GGTTTCAGCATTCCCAATTATCAAAAAACAGAAAAACAAAAAAAAGAAAGAAAAAAGTGCAACT
TGAGGGACGACTTTCTTTAACATATCATTCAGAATGTGCAAAGCAGTATGTACAGGCTGAGACA
CAGCCCAGAGACTGAACGGCAATCTTTCCACACTGTGGAACAATGCATTTGTGCCTAAACTTCT
TTTGGAAAAAAAAAATATAATTAATTTGTAAGTCTGAAAAAAAAATATTTAATTTAAAAAAAAT
TGTAAACTTGCAATAATGAAAAAGTGTACTTCTGAAGAAAACTACATGAACGTTTTTGTTGGTA
TTCAAGTCAGCTAGTGTTTATAATTACTGGATATTGAATTAGGGGAAGCTCGGCTGCCCTAGTA
ACAAAACCAGCAAACGTCCTGATGACAACGAAGTGATGACATTAGCCATTCCTTAGGGTAGGAG
GAACAGATGGATCTTATAGACCTATGACAAATATATATATAAATATATATATAAATATATATTA
AAAATTTAGTGACTATGGTAAGCTTTTGTTCATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAA
TAGTACTGATTAACTTTTTTAAAAGAAAGATTTTACTGTAAATATGGATTTTTTTTTTTTTGGT
CTTATTTCTGTCCCTTTCCCTGGTTTGTTATCGTAACCTGTAGTGCCAACTCTGCTTCCAGAGG
GGTAGTGCAGGATGAAATGCTGACCCTGATGTTGCTTCTCATTCATAAATAAGTAGAAAGTTGT
TTCTCCAGTCTTTTGGGAACACAGGACTTAAAAGTCACATCATGTGTAGATATTACAAGCAGCA
TTACCAAGACATGGCAAAAAGAGTTTGTCTGAATTGTAATGTTGCGTTTGTGAACCTATTCTGG
GATTTTCAGAGGTACAAGGTTAGAATGCTACAATGTTACCACTGTGCCTTCCAATGTTTATATC
ATCGGAAACATAACATAATCAAAGTGGCTGTGATTTAACAAAATGATTAAAGTGTTACCTACCT
GTGTAGCCGAAGTAGTGTGCAGTGAGGCGTTTCTGAATACATGGTCAGATTTTTGGAAAAAAAC
AAAAACAAAAAAAACAAGTAAAGTTCAAAAACCGTCAAATGAGAAAATTGCAAGTAGTGTGACA
GAGCTGATTGATTTTGTTGCTTTCTTGATTTTTTTTTTCAAAATGGGTTTACTAAAATGTAGAT
GACTTAACTGCCTCCTCCTTCGTCTGAAAAATGCCAATATTCAATCATCATGCAGCATTATAAC
AAGCCTTATAAGTCCTAAAGCATTAAGTTGCACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTC
TGGCCAGTATGAATGAAGTTTATACTTACCATATTTGATAGAAACATAGATCAAGCTATGGCAC
AGCGACTCATCAGATAGCTAGCTTTGACGTCTGGGCACAATTGAACCAACTTCCATCGTGAATC
TTTATAATGATTGACTTTGGTGTATAGTGCAGTAAACAAATAGTGCTCCTAGTTAAGTATTTGT
CAGCATCCTTTTGTCTCTAACTTGTTTCTATTTTTACAGCCACACAATTCTTGGCATGTATTAA
GAAAAAAAAAAATCCCTGTTCAAGTAGTTTTTCCACCTATCAGCACTGAGTAAATGCCATAAAT
CCATTGAAATGGTCTAAATGTTCCATCTGTTCTCCTGTTTTGCCAGTTATATAGTAATGAAATA
CATTTGTAAATTTTATGCAACAAATGGCAAACGTATCATTATTTTGAAATTGTGTATGTAAAAG
TTATATTTTTACATGTAGACTCTTGTTATTATGTGTTTTAATACATTGTATCAGTTTTTGTTTT
TTTTTAAAAACTGTGGTTTAAAAAGAAGTCTCATTTAAATGAAATAGCTACAAGAATCAGAATT
TTATGTTCATTTCTGAAAATGTAAGAACAAATAAGATAGTTACCACGTGGTCATCTTTTACAAA
CCCATAAACATTTTGATTAGCTGTGTGTGTGTTGAAAAACTGTAAATATGTTCAGTAGCGATAA
AACTAAAATAACTTTGATTTGTTGATAAGTTCCTAAAATGTGGAGGTGGATTAAAACCTTAGGA
GAATAGCAGAAATCAAACTTCATGAAAAGTTATTTTGGGGCTTTCCTGTGAAATGTATGAACAA
AGAGGCTCAGAGAAGGACATGGAAGACAATAATGTATACTCTCTCCTCCTCCCTGAATAATGAA
AACCATGTGTATTTGTTCCCTCCGTATGTTAAAGATTTCCTTTTAGTGGTACATTCTGCACTCA
TTTTGTATAGTCTACCAAGGCGGGTATCCCTAGGAACAATATTATATAGGAAGCAGGTATACTC
TGATCACATTCAGGATAAGTGTACAGAAGAAAATACGGTGTTTACTCTTTAGGGAACTGGAAAC
ACTCCCTGCATTGATGTACATTTTAAGAATGGCACTTTTGATACATGTTATCATAAAGGTGCTT
AATAGAGCTGAATTAAAGTTTTTCAAATCTGTAAACAAAGCAAAAAAGTAAATTGTAGTCATTT
GATTATTTTTTAAATTGGTGCTTTATATTTTGTTCTCACTCAGAGTAAAAGCTGCAATTTATTG
TTCACCAGCTTTGATGTATTCATTACTCAGTAATGCAATACCTCTATTGTTGAATTCCCTTTGG
AAATAAGTGAAAATTCTAACGGCCACTGAAAGCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACA
TAATCTGCACCTATCCATATTAATTGGGTTGTATCCCCATTAAAAAAGAAAAAAAGGGAATGTG
GCCTTTTTAGTGTGTTTTTTATTGTTGTTGTTTTGTAATTATCAAACCCAGGTAAGATATTGGT
ATCCTGCACTGGATTTTCAAATGAAGTTCAGCAGAAGACAGTTAAGATTAAAGTACTATACAAA
AATTTCAAAAGGGTCCATACTACGCTATCTGTATGACGACACTTAGGCTGGGGATCTCTTTCAG
AAACTCGGACTTTAAAAGCAACTTGGAGCAGTTGATCCACCTCCACATTCAAGTAATTTATGAA
TATGCAGAATAGGGATCTGTTCATCTAGAAATTTTTACCATTTGTCTTCTGTGTAGCTGCAAGG
AACACTAATGTTTATACAACTGTCAGTCCACCCAGTGGTGCAACTGGTTCTGATTCAGTCTTCC
GATTCCTTTTTATTTTTCACTTTTTCCTATTTCTGAATTTTTTTTTTTATTTGTGATCTTGATT
TTGATGAGGGGTTGGGGAGTGGGGAGGGAGTCGAACCAAGACTTGGAGTTAAGAGGATTTTCAT
CTTTTGCATCCAACAGGCAGAATATGATCTGTGTCCAAAAGTGAACTTGAGTCAGGAATGAATC
AATTTCAGCATAAACAAGCACAAAAATTTAGTCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGA
TGGAATATGATGAATTCCAACACAATGGGGCACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGC
TTTGGTTTTGTTTGTTTTTCTTTAGAGACATGCTCTTTCTCATGGGACTTGAAGTGGACTCATC
TTTGTGCAGTGCTGGTTTTGCCATACTCATTTCAAGTATTATAGACATATGTAATGGTGAAAAT
ATATGAACTGTGGCCTTTTTCATTCTTGTTACTTGTGATGCAATTAAGTGAAGATAAGAAAAAA
AAAAAAAAAGCAGAGATTTACCATGTATCAGTGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTC
TAGTGCTCTTTTGCTATAAAATAGACTGTAGTACACCCTAGTAGGAAAAAAAAAAAACTAAATT
TAAAAATAAAAAATATATTTGGCTTATTTTTCGCAGGAGCAATCCTTTTATACCATGAATATTA
CAAAAAAATTGTCAGATTCTGAATATTTCTTCTTTGTAGATTTTTGGAATCATTATGAGTAAAA
GTTTGTTACTTTATTTTACTATTTAAAAGATGTTATTTTACCATGTGTTACCAAGATGAAACTG
TATGGGTAGCTTTTTTGTTTGTTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAG
GTCGCAGCGGGGAAATTTTTTGCGACTGTACACATAGCTGCAGCATTAAAAACTTAAAAAAATT
GTTAAAAAAAAAAAAAGGGAAAACATTTCAAAAAAAAAAAAAAAGATAAACAGTTACACCTTGT
TTTCAATGTGTGGCTGAGTGCCTCGATTTTTTCATGTTTTTGGTGTATTTCTGATTTGTAGAAG
TGTCCAAACAGGTTGTGTGCTGGAGTTCCTTCAAGACAAAAACAAACCCAGCTTGGTCAAGGCC
ATTACCTGTTTCCCATCTGTAGTTATTCGATGAAGTCATGTACATGACCGTTCTGTAGCAATAA
ATGTGCCATTTTTATAAACTGTTTCTGACACTTGTTTCATTTCATTTTGCATTGTCCATATAGC
TATGATTCTCTTCTGTAAGTAAAACGCATCTATATTTCATTTTCCAAGTGTTGGAGGTATTGAC
AGCTTAACAAACAAAACATACAAAAAAAATCACAAAAACAAATTGAAAAGCAAAGCACATGATT
GATCAAGGAAGAGATGCCCTTAATGAAAATGGAACGGGATGCATGCAAAACAAAAAGAAAACTG
TCTAGAGGATTAACTAATTGAAGGAATATAATTAATGTGTGTGTAACACTGAAGCTATGCATTT
GAAGAGCTCTGAACTGCACCAGTGTTTTCGGTTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTT
AACCTTTTGCACCAGTTGGTCGGCTGTTTGGCAGAACATTCTCAGATCTTTTCAGTCAAAAATC
TAAGATGATTTATTTTGTATCACTTTGTTAAAAGCTGAATATTGTTAACTACAGTTAATATTAA
CACTGTATTTATACTTTCTCAAACTACATCCGCCCCACCACTTCTGGTTGCCTCTGTTGACTAT
TAATCCAGATGTAAACAACCAGATGTTTTTTTCTAACTTGTACAAACTGACGTGTGTCAACTAT
CATGGAAGGAAAAAAATGTACAGATTAAAATTATTCAGTGTTATGTACTGTAAGTTAATATTTT
TGTAGAATGGACATCAATCTACTTTGCAAAATTTGGAGGCTATTTCAACATTGCACTGTAGAAA
TGTAAAGTAATGTATGCAATGTAAAGGAAAGCCCGCGGTAGCTGAGCGCTTCATAACAGAATGT
TCTAATCAAGTACGTGGTATTTGGGGATGTCTCCAATATTGCTCTTGTATTCTTTCTAATTGGG
TTTAGTGACTAGTTGAAGGAAAATGTTATAACGCCATTTGGTTCACATGTGAAGTGCCCTCCAT
AGCCAAATGTTGGGATTTTTTTTTTTTTCGTTTTTGGTTGGACTGTTTGCAGATATTTAAATTT
TATGAAATTTCCAAAGATTTTGGTTGATAACCCCCTTTTACCTTCTAAATGATTTGAGATGTTC
TTATGTTCTTACTGTGTGTTTTAAATATATATAAAAGAGCCACAAGCATTTAGTCTTTTAGTAT
TATATTTGATCATATAACTACTACTGAAAAGGGGTGGGGGGGAATGTGCCTGTGCACCCCTACA
GTATCTTGTGTAGTGTCTATTAACATTGTTCTCTTTTAGAGGACCACATTAAAAGGTACATTAA
TCTTA

hide sequence

RefSeq Acc Id:

NM_001369572 ⟹ NP_001356501

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,588,617 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,791,669 (-)	NCBI

Sequence:

show sequence

GTGAGTGAGAGGGAACGAGAGTAAGAGAAAGAAAGAAGTGAGGGGATGTAAACTCGAATAAATT
TCAAAGTGCCTCCGAGGGATGCAACGGGCAAAAACTGAACTGTTCAGGCTTCAGATTGTAACTG
ACGATCTGAGGAAAAATGAGGTTTGTGTGATTTTGCTAAAATGCATCACCAACAGCGAATGGCT
GCCTTAGGGACGGACAAAGAGCTGAGTGATTTACTGGATTTCAGTGCGATGTTTTCACCTCCTG
TGAGCAGTGGGAAAAATGGACCAACTTCTTTGGCAAGTGGACATTTTACTGGCTCAAATGTAGA
AGACAGAAGTAGCTCAGGGTCCTGGGGGAATGGAGGACATCCAAGCCCGTCCAGGAACTATGGA
GATGGGACTCCCTATGACCACATGACCAGCAGGGACCTTGGGTCACATGACAATCTCTCTCCAC
CTTTTGTCAATTCCAGAATACAAAGTAAAACAGAAAGGGGCTCATACTCATCTTATGGGAGAGA
ATCAAACTTACAGGGTTGCCACCAGCAGAGTCTCCTTGGAGGTGACATGGATATGGGCAACCCA
GGAACCCTTTCGCCCACCAAACCTGGTTCCCAGTACTATCAGTATTCTAGCAATAATCCCCGAA
GGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGACAAAGAAAGTTCGAAAAGTTCCTCCAGG
TTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCACTGCCGACTACAATAGGGACTCGCCAGGC
TATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCTAGCTCCTTCTTCATGCAAGATGGCCATC
ACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTGGCTATGCAGGAATGTTGGG
CAACTCTTCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCATCCACATGAACGTTTGAGC
TATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCGATGTCCACTTTCCATCGTA
GTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCCAACGGGACAGACAGTATAAT
GGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCAGACTGGAGATGCTCTGGGGAAAGCACTT
GCTTCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATCAAACCCTTCAACTCCTGTTG
GCTCTCCTCCATCTCTCTCAGCAGGCACAGCTGTTTGGTCTAGAAATGGAGGACAGGCCTCATC
GTCTCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCGAATTGAAGATCGTTTAGAAAGA
CTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTG
GTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTC
AGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTGGGGACCCATCGTGAA
GATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTGCCAAACCAGGTTCCGGTTCCACAGCTTC
CTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCACCCCAGGACCCTTACAGAGGCATGCCACC
AGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTCTGAGATCAAATCCGATGACGAGGGTGAT
GAGAACCTGCAAGACACGAAATCTTCGGAGGACAAGAAATTAGATGACGACAAGAAGGATATCA
AATCAATTACTAGCAATAATGACGATGAGGACCTGACACCAGAGCAGAAGGCAGAGCGTGAGAA
GGAGCGGAGGATGGCCAACAATGCCCGAGAGCGTCTGCGGGTCCGTGACATCAACGAGGCTTTC
AAAGAGCTCGGCCGCATGGTGCAGCTCCACCTCAAGAGTGACAAGCCCCAGACCAAGCTCCTGA
TCCTCCACCAGGCGGTGGCCGTCATCCTCAGTCTGGAGCAGCAAGTCCGAGAAAGGAATCTGAA
TCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGGAAGAGAAGGTGTCCTCAGAGCCTCCCCCTCTC
TCCTTGGCCGGCCCACACCCTGGAATGGGAGACGCATCGAATCACATGGGACAGATGTAAAAGG
GTCCAAGTTGCCACATTGCTTCATTAAAACAAGAGACCACTTCCTTAACAGCTGTATTATCTTA
AACCCACATAAACACTTCTCCTTAACCCCCATTTTTGTAATATAAGACAAGTCTGAGTAGTTAT
GAATCGCAGACGCAAGAGGTTTCAGCATTCCCAATTATCAAAAAACAGAAAAACAAAAAAAAGA
AAGAAAAAAGTGCAACTTGAGGGACGACTTTCTTTAACATATCATTCAGAATGTGCAAAGCAGT
ATGTACAGGCTGAGACACAGCCCAGAGACTGAACGGCAATCTTTCCACACTGTGGAACAATGCA
TTTGTGCCTAAACTTCTTTTGGAAAAAAAAAATATAATTAATTTGTAAGTCTGAAAAAAAAATA
TTTAATTTAAAAAAAATTGTAAACTTGCAATAATGAAAAAGTGTACTTCTGAAGAAAACTACAT
GAACGTTTTTGTTGGTATTCAAGTCAGCTAGTGTTTATAATTACTGGATATTGAATTAGGGGAA
GCTCGGCTGCCCTAGTAACAAAACCAGCAAACGTCCTGATGACAACGAAGTGATGACATTAGCC
ATTCCTTAGGGTAGGAGGAACAGATGGATCTTATAGACCTATGACAAATATATATATAAATATA
TATATAAATATATATTAAAAATTTAGTGACTATGGTAAGCTTTTGTTCATTTGTTTCAGACTTT
TTTCTCCTGTAAAAAAATAGTACTGATTAACTTTTTTAAAAGAAAGATTTTACTGTAAATATGG
ATTTTTTTTTTTTTGGTCTTATTTCTGTCCCTTTCCCTGGTTTGTTATCGTAACCTGTAGTGCC
AACTCTGCTTCCAGAGGGGTAGTGCAGGATGAAATGCTGACCCTGATGTTGCTTCTCATTCATA
AATAAGTAGAAAGTTGTTTCTCCAGTCTTTTGGGAACACAGGACTTAAAAGTCACATCATGTGT
AGATATTACAAGCAGCATTACCAAGACATGGCAAAAAGAGTTTGTCTGAATTGTAATGTTGCGT
TTGTGAACCTATTCTGGGATTTTCAGAGGTACAAGGTTAGAATGCTACAATGTTACCACTGTGC
CTTCCAATGTTTATATCATCGGAAACATAACATAATCAAAGTGGCTGTGATTTAACAAAATGAT
TAAAGTGTTACCTACCTGTGTAGCCGAAGTAGTGTGCAGTGAGGCGTTTCTGAATACATGGTCA
GATTTTTGGAAAAAAACAAAAACAAAAAAAACAAGTAAAGTTCAAAAACCGTCAAATGAGAAAA
TTGCAAGTAGTGTGACAGAGCTGATTGATTTTGTTGCTTTCTTGATTTTTTTTTTCAAAATGGG
TTTACTAAAATGTAGATGACTTAACTGCCTCCTCCTTCGTCTGAAAAATGCCAATATTCAATCA
TCATGCAGCATTATAACAAGCCTTATAAGTCCTAAAGCATTAAGTTGCACTTTTTTGAGGAGGG
GTAGTGCAGTATTTCTCTGGCCAGTATGAATGAAGTTTATACTTACCATATTTGATAGAAACAT
AGATCAAGCTATGGCACAGCGACTCATCAGATAGCTAGCTTTGACGTCTGGGCACAATTGAACC
AACTTCCATCGTGAATCTTTATAATGATTGACTTTGGTGTATAGTGCAGTAAACAAATAGTGCT
CCTAGTTAAGTATTTGTCAGCATCCTTTTGTCTCTAACTTGTTTCTATTTTTACAGCCACACAA
TTCTTGGCATGTATTAAGAAAAAAAAAAATCCCTGTTCAAGTAGTTTTTCCACCTATCAGCACT
GAGTAAATGCCATAAATCCATTGAAATGGTCTAAATGTTCCATCTGTTCTCCTGTTTTGCCAGT
TATATAGTAATGAAATACATTTGTAAATTTTATGCAACAAATGGCAAACGTATCATTATTTTGA
AATTGTGTATGTAAAAGTTATATTTTTACATGTAGACTCTTGTTATTATGTGTTTTAATACATT
GTATCAGTTTTTGTTTTTTTTTAAAAACTGTGGTTTAAAAAGAAGTCTCATTTAAATGAAATAG
CTACAAGAATCAGAATTTTATGTTCATTTCTGAAAATGTAAGAACAAATAAGATAGTTACCACG
TGGTCATCTTTTACAAACCCATAAACATTTTGATTAGCTGTGTGTGTGTTGAAAAACTGTAAAT
ATGTTCAGTAGCGATAAAACTAAAATAACTTTGATTTGTTGATAAGTTCCTAAAATGTGGAGGT
GGATTAAAACCTTAGGAGAATAGCAGAAATCAAACTTCATGAAAAGTTATTTTGGGGCTTTCCT
GTGAAATGTATGAACAAAGAGGCTCAGAGAAGGACATGGAAGACAATAATGTATACTCTCTCCT
CCTCCCTGAATAATGAAAACCATGTGTATTTGTTCCCTCCGTATGTTAAAGATTTCCTTTTAGT
GGTACATTCTGCACTCATTTTGTATAGTCTACCAAGGCGGGTATCCCTAGGAACAATATTATAT
AGGAAGCAGGTATACTCTGATCACATTCAGGATAAGTGTACAGAAGAAAATACGGTGTTTACTC
TTTAGGGAACTGGAAACACTCCCTGCATTGATGTACATTTTAAGAATGGCACTTTTGATACATG
TTATCATAAAGGTGCTTAATAGAGCTGAATTAAAGTTTTTCAAATCTGTAAACAAAGCAAAAAA
GTAAATTGTAGTCATTTGATTATTTTTTAAATTGGTGCTTTATATTTTGTTCTCACTCAGAGTA
AAAGCTGCAATTTATTGTTCACCAGCTTTGATGTATTCATTACTCAGTAATGCAATACCTCTAT
TGTTGAATTCCCTTTGGAAATAAGTGAAAATTCTAACGGCCACTGAAAGCTGCTCGCTAGGTTT
TGCTTGGTGGAGAAACATAATCTGCACCTATCCATATTAATTGGGTTGTATCCCCATTAAAAAA
GAAAAAAAGGGAATGTGGCCTTTTTAGTGTGTTTTTTATTGTTGTTGTTTTGTAATTATCAAAC
CCAGGTAAGATATTGGTATCCTGCACTGGATTTTCAAATGAAGTTCAGCAGAAGACAGTTAAGA
TTAAAGTACTATACAAAAATTTCAAAAGGGTCCATACTACGCTATCTGTATGACGACACTTAGG
CTGGGGATCTCTTTCAGAAACTCGGACTTTAAAAGCAACTTGGAGCAGTTGATCCACCTCCACA
TTCAAGTAATTTATGAATATGCAGAATAGGGATCTGTTCATCTAGAAATTTTTACCATTTGTCT
TCTGTGTAGCTGCAAGGAACACTAATGTTTATACAACTGTCAGTCCACCCAGTGGTGCAACTGG
TTCTGATTCAGTCTTCCGATTCCTTTTTATTTTTCACTTTTTCCTATTTCTGAATTTTTTTTTT
TATTTGTGATCTTGATTTTGATGAGGGGTTGGGGAGTGGGGAGGGAGTCGAACCAAGACTTGGA
GTTAAGAGGATTTTCATCTTTTGCATCCAACAGGCAGAATATGATCTGTGTCCAAAAGTGAACT
TGAGTCAGGAATGAATCAATTTCAGCATAAACAAGCACAAAAATTTAGTCTGCTGGCTGACTGG
AAGCAAAAAAGTCAAGATGGAATATGATGAATTCCAACACAATGGGGCACCAAGGCCTTTAGGC
CTCTCTTTTTATTTTGCTTTGGTTTTGTTTGTTTTTCTTTAGAGACATGCTCTTTCTCATGGGA
CTTGAAGTGGACTCATCTTTGTGCAGTGCTGGTTTTGCCATACTCATTTCAAGTATTATAGACA
TATGTAATGGTGAAAATATATGAACTGTGGCCTTTTTCATTCTTGTTACTTGTGATGCAATTAA
GTGAAGATAAGAAAAAAAAAAAAAAAGCAGAGATTTACCATGTATCAGTGCCTGGCTTTTTGTT
ATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCTATAAAATAGACTGTAGTACACCCTAGTAGGAA
AAAAAAAAAACTAAATTTAAAAATAAAAAATATATTTGGCTTATTTTTCGCAGGAGCAATCCTT
TTATACCATGAATATTACAAAAAAATTGTCAGATTCTGAATATTTCTTCTTTGTAGATTTTTGG
AATCATTATGAGTAAAAGTTTGTTACTTTATTTTACTATTTAAAAGATGTTATTTTACCATGTG
TTACCAAGATGAAACTGTATGGGTAGCTTTTTTGTTTGTTTTTTGTTTTGTTTTTGTTTTTGTT
TTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAATTTTTTGCGACTGTACACATAGCTGCAGCATT
AAAAACTTAAAAAAATTGTTAAAAAAAAAAAAAGGGAAAACATTTCAAAAAAAAAAAAAAAGAT
AAACAGTTACACCTTGTTTTCAATGTGTGGCTGAGTGCCTCGATTTTTTCATGTTTTTGGTGTA
TTTCTGATTTGTAGAAGTGTCCAAACAGGTTGTGTGCTGGAGTTCCTTCAAGACAAAAACAAAC
CCAGCTTGGTCAAGGCCATTACCTGTTTCCCATCTGTAGTTATTCGATGAAGTCATGTACATGA
CCGTTCTGTAGCAATAAATGTGCCATTTTTATAAACTGTTTCTGACACTTGTTTCATTTCATTT
TGCATTGTCCATATAGCTATGATTCTCTTCTGTAAGTAAAACGCATCTATATTTCATTTTCCAA
GTGTTGGAGGTATTGACAGCTTAACAAACAAAACATACAAAAAAAATCACAAAAACAAATTGAA
AAGCAAAGCACATGATTGATCAAGGAAGAGATGCCCTTAATGAAAATGGAACGGGATGCATGCA
AAACAAAAAGAAAACTGTCTAGAGGATTAACTAATTGAAGGAATATAATTAATGTGTGTGTAAC
ACTGAAGCTATGCATTTGAAGAGCTCTGAACTGCACCAGTGTTTTCGGTTGTGCTGCAGGTTGC
TAAGTCAAGTCAGCCTTAACCTTTTGCACCAGTTGGTCGGCTGTTTGGCAGAACATTCTCAGAT
CTTTTCAGTCAAAAATCTAAGATGATTTATTTTGTATCACTTTGTTAAAAGCTGAATATTGTTA
ACTACAGTTAATATTAACACTGTATTTATACTTTCTCAAACTACATCCGCCCCACCACTTCTGG
TTGCCTCTGTTGACTATTAATCCAGATGTAAACAACCAGATGTTTTTTTCTAACTTGTACAAAC
TGACGTGTGTCAACTATCATGGAAGGAAAAAAATGTACAGATTAAAATTATTCAGTGTTATGTA
CTGTAAGTTAATATTTTTGTAGAATGGACATCAATCTACTTTGCAAAATTTGGAGGCTATTTCA
ACATTGCACTGTAGAAATGTAAAGTAATGTATGCAATGTAAAGGAAAGCCCGCGGTAGCTGAGC
GCTTCATAACAGAATGTTCTAATCAAGTACGTGGTATTTGGGGATGTCTCCAATATTGCTCTTG
TATTCTTTCTAATTGGGTTTAGTGACTAGTTGAAGGAAAATGTTATAACGCCATTTGGTTCACA
TGTGAAGTGCCCTCCATAGCCAAATGTTGGGATTTTTTTTTTTTTCGTTTTTGGTTGGACTGTT
TGCAGATATTTAAATTTTATGAAATTTCCAAAGATTTTGGTTGATAACCCCCTTTTACCTTCTA
AATGATTTGAGATGTTCTTATGTTCTTACTGTGTGTTTTAAATATATATAAAAGAGCCACAAGC
ATTTAGTCTTTTAGTATTATATTTGATCATATAACTACTACTGAAAAGGGGTGGGGGGGAATGT
GCCTGTGCACCCCTACAGTATCTTGTGTAGTGTCTATTAACATTGTTCTCTTTTAGAGGACCAC
ATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001369573 ⟹ NP_001356502

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,588,192 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,791,244 (-)	NCBI

Sequence:

show sequence

GCGGATCTGTAGTGGCGGCGGCGGCGGCGGCGGCGGGGAGGCAGCAGGCGCGGGAGCGGGCGCA
GGAGCAGGCGGCGGCGGTGGCGGCGGCGGTTAGACATGAACGCCGCCTCGGCGCCGGCGGTGCA
CGGAGAGCCCCTTCTCGCGCGCGGGCGGTTTGTGTGATTTTGCTAAAATGCATCACCAACAGCG
AATGGCTGCCTTAGGGACGGACAAAGAGCTGAGTGATTTACTGGATTTCAGTGCGATGTTTTCA
CCTCCTGTGAGCAGTGGGAAAAATGGACCAACTTCTTTGGCAAGTGGACATTTTACTGGCTCAA
ATGTAGAAGACAGAAGTAGCTCAGGGTCCTGGGGGAATGGAGGACATCCAAGCCCGTCCAGGAA
CTATGGAGATGGGACTCCCTATGACCACATGACCAGCAGGGACCTTGGGTCACATGACAATCTC
TCTCCACCTTTTGTCAATTCCAGAATACAAAGTAAAACAGAAAGGGGCTCATACTCATCTTATG
GGAGAGAATCAAACTTACAGGGTTGCCACCAGAGTCTCCTTGGAGGTGACATGGATATGGGCAA
CCCAGGAACCCTTTCGCCCACCAAACCTGGTTCCCAGTACTATCAGTATTCTAGCAATAATCCC
CGAAGGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGACAAAGAAAGTTCGAAAAGTTCCTC
CAGGTTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCACTGCCGACTACAATAGGGACTCGCC
AGGCTATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCTAGCTCCTTCTTCATGCAAGATGGC
CATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTGGCTATGCAGGAATGT
TGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCATCCACATGAACGTTT
GAGCTATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCGATGTCCACTTTCCAT
CGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCCAACGGGACAGACAGTA
TAATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCAGACTGGAGATGCTCTGGGGAAAGC
ACTTGCTTCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATCAAACCCTTCAACTCCT
GTTGGCTCTCCTCCATCTCTCTCAGCAGGCACAGCTGTTTGGTCTAGAAATGGAGGACAGGCCT
CATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCGAATTGAAGATCGTTTAGA
AAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCT
GGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGG
GCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTGGGGACCCATCG
TGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTGCCAAACCAGGTTCCGGTTCCACAG
CTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCACCCCAGGACCCTTACAGAGGCATGC
CACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTCTGAGATCAAATCCGATGACGAGGG
TGATGAGAACCTGCAAGACACGAAATCTTCGGAGGACAAGAAATTAGATGACGACAAGAAGGAT
ATCAAATCAATTACTAGCAATAATGACGATGAGGACCTGACACCAGAGCAGAAGGCAGAGCGTG
AGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCGTCTGCGGGTCCGTGACATCAACGAGGC
TTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCTCAAGAGTGACAAGCCCCAGACCAAGCTC
CTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAGTCTGGAGCAGCAAGTCCGAGAAAGGAATC
TGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGGAAGAGAAGGTGTCCTCAGAGCCTCCCCC
TCTCTCCTTGGCCGGCCCACACCCTGGAATGGGAGACGCATCGAATCACATGGGACAGATGTAA
AAGGGTCCAAGTTGCCACATTGCTTCATTAAAACAAGAGACCACTTCCTTAACAGCTGTATTAT
CTTAAACCCACATAAACACTTCTCCTTAACCCCCATTTTTGTAATATAAGACAAGTCTGAGTAG
TTATGAATCGCAGACGCAAGAGGTTTCAGCATTCCCAATTATCAAAAAACAGAAAAACAAAAAA
AAGAAAGAAAAAAGTGCAACTTGAGGGACGACTTTCTTTAACATATCATTCAGAATGTGCAAAG
CAGTATGTACAGGCTGAGACACAGCCCAGAGACTGAACGGCAATCTTTCCACACTGTGGAACAA
TGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAAAATATAATTAATTTGTAAGTCTGAAAAAAA
AATATTTAATTTAAAAAAAATTGTAAACTTGCAATAATGAAAAAGTGTACTTCTGAAGAAAACT
ACATGAACGTTTTTGTTGGTATTCAAGTCAGCTAGTGTTTATAATTACTGGATATTGAATTAGG
GGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAAACGTCCTGATGACAACGAAGTGATGACATT
AGCCATTCCTTAGGGTAGGAGGAACAGATGGATCTTATAGACCTATGACAAATATATATATAAA
TATATATATAAATATATATTAAAAATTTAGTGACTATGGTAAGCTTTTGTTCATTTGTTTCAGA
CTTTTTTCTCCTGTAAAAAAATAGTACTGATTAACTTTTTTAAAAGAAAGATTTTACTGTAAAT
ATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCCCTTTCCCTGGTTTGTTATCGTAACCTGTAG
TGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGATGAAATGCTGACCCTGATGTTGCTTCTCATT
CATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTTGGGAACACAGGACTTAAAAGTCACATCAT
GTGTAGATATTACAAGCAGCATTACCAAGACATGGCAAAAAGAGTTTGTCTGAATTGTAATGTT
GCGTTTGTGAACCTATTCTGGGATTTTCAGAGGTACAAGGTTAGAATGCTACAATGTTACCACT
GTGCCTTCCAATGTTTATATCATCGGAAACATAACATAATCAAAGTGGCTGTGATTTAACAAAA
TGATTAAAGTGTTACCTACCTGTGTAGCCGAAGTAGTGTGCAGTGAGGCGTTTCTGAATACATG
GTCAGATTTTTGGAAAAAAACAAAAACAAAAAAAACAAGTAAAGTTCAAAAACCGTCAAATGAG
AAAATTGCAAGTAGTGTGACAGAGCTGATTGATTTTGTTGCTTTCTTGATTTTTTTTTTCAAAA
TGGGTTTACTAAAATGTAGATGACTTAACTGCCTCCTCCTTCGTCTGAAAAATGCCAATATTCA
ATCATCATGCAGCATTATAACAAGCCTTATAAGTCCTAAAGCATTAAGTTGCACTTTTTTGAGG
AGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAATGAAGTTTATACTTACCATATTTGATAGAA
ACATAGATCAAGCTATGGCACAGCGACTCATCAGATAGCTAGCTTTGACGTCTGGGCACAATTG
AACCAACTTCCATCGTGAATCTTTATAATGATTGACTTTGGTGTATAGTGCAGTAAACAAATAG
TGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTGTCTCTAACTTGTTTCTATTTTTACAGCCAC
ACAATTCTTGGCATGTATTAAGAAAAAAAAAAATCCCTGTTCAAGTAGTTTTTCCACCTATCAG
CACTGAGTAAATGCCATAAATCCATTGAAATGGTCTAAATGTTCCATCTGTTCTCCTGTTTTGC
CAGTTATATAGTAATGAAATACATTTGTAAATTTTATGCAACAAATGGCAAACGTATCATTATT
TTGAAATTGTGTATGTAAAAGTTATATTTTTACATGTAGACTCTTGTTATTATGTGTTTTAATA
CATTGTATCAGTTTTTGTTTTTTTTTAAAAACTGTGGTTTAAAAAGAAGTCTCATTTAAATGAA
ATAGCTACAAGAATCAGAATTTTATGTTCATTTCTGAAAATGTAAGAACAAATAAGATAGTTAC
CACGTGGTCATCTTTTACAAACCCATAAACATTTTGATTAGCTGTGTGTGTGTTGAAAAACTGT
AAATATGTTCAGTAGCGATAAAACTAAAATAACTTTGATTTGTTGATAAGTTCCTAAAATGTGG
AGGTGGATTAAAACCTTAGGAGAATAGCAGAAATCAAACTTCATGAAAAGTTATTTTGGGGCTT
TCCTGTGAAATGTATGAACAAAGAGGCTCAGAGAAGGACATGGAAGACAATAATGTATACTCTC
TCCTCCTCCCTGAATAATGAAAACCATGTGTATTTGTTCCCTCCGTATGTTAAAGATTTCCTTT
TAGTGGTACATTCTGCACTCATTTTGTATAGTCTACCAAGGCGGGTATCCCTAGGAACAATATT
ATATAGGAAGCAGGTATACTCTGATCACATTCAGGATAAGTGTACAGAAGAAAATACGGTGTTT
ACTCTTTAGGGAACTGGAAACACTCCCTGCATTGATGTACATTTTAAGAATGGCACTTTTGATA
CATGTTATCATAAAGGTGCTTAATAGAGCTGAATTAAAGTTTTTCAAATCTGTAAACAAAGCAA
AAAAGTAAATTGTAGTCATTTGATTATTTTTTAAATTGGTGCTTTATATTTTGTTCTCACTCAG
AGTAAAAGCTGCAATTTATTGTTCACCAGCTTTGATGTATTCATTACTCAGTAATGCAATACCT
CTATTGTTGAATTCCCTTTGGAAATAAGTGAAAATTCTAACGGCCACTGAAAGCTGCTCGCTAG
GTTTTGCTTGGTGGAGAAACATAATCTGCACCTATCCATATTAATTGGGTTGTATCCCCATTAA
AAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTGTTTTTTATTGTTGTTGTTTTGTAATTATC
AAACCCAGGTAAGATATTGGTATCCTGCACTGGATTTTCAAATGAAGTTCAGCAGAAGACAGTT
AAGATTAAAGTACTATACAAAAATTTCAAAAGGGTCCATACTACGCTATCTGTATGACGACACT
TAGGCTGGGGATCTCTTTCAGAAACTCGGACTTTAAAAGCAACTTGGAGCAGTTGATCCACCTC
CACATTCAAGTAATTTATGAATATGCAGAATAGGGATCTGTTCATCTAGAAATTTTTACCATTT
GTCTTCTGTGTAGCTGCAAGGAACACTAATGTTTATACAACTGTCAGTCCACCCAGTGGTGCAA
CTGGTTCTGATTCAGTCTTCCGATTCCTTTTTATTTTTCACTTTTTCCTATTTCTGAATTTTTT
TTTTTATTTGTGATCTTGATTTTGATGAGGGGTTGGGGAGTGGGGAGGGAGTCGAACCAAGACT
TGGAGTTAAGAGGATTTTCATCTTTTGCATCCAACAGGCAGAATATGATCTGTGTCCAAAAGTG
AACTTGAGTCAGGAATGAATCAATTTCAGCATAAACAAGCACAAAAATTTAGTCTGCTGGCTGA
CTGGAAGCAAAAAAGTCAAGATGGAATATGATGAATTCCAACACAATGGGGCACCAAGGCCTTT
AGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTGTTTTTCTTTAGAGACATGCTCTTTCTCAT
GGGACTTGAAGTGGACTCATCTTTGTGCAGTGCTGGTTTTGCCATACTCATTTCAAGTATTATA
GACATATGTAATGGTGAAAATATATGAACTGTGGCCTTTTTCATTCTTGTTACTTGTGATGCAA
TTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGAGATTTACCATGTATCAGTGCCTGGCTTTT
TGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCTATAAAATAGACTGTAGTACACCCTAGTA
GGAAAAAAAAAAAACTAAATTTAAAAATAAAAAATATATTTGGCTTATTTTTCGCAGGAGCAAT
CCTTTTATACCATGAATATTACAAAAAAATTGTCAGATTCTGAATATTTCTTCTTTGTAGATTT
TTGGAATCATTATGAGTAAAAGTTTGTTACTTTATTTTACTATTTAAAAGATGTTATTTTACCA
TGTGTTACCAAGATGAAACTGTATGGGTAGCTTTTTTGTTTGTTTTTTGTTTTGTTTTTGTTTT
TGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAATTTTTTGCGACTGTACACATAGCTGCAG
CATTAAAAACTTAAAAAAATTGTTAAAAAAAAAAAAAGGGAAAACATTTCAAAAAAAAAAAAAA
AGATAAACAGTTACACCTTGTTTTCAATGTGTGGCTGAGTGCCTCGATTTTTTCATGTTTTTGG
TGTATTTCTGATTTGTAGAAGTGTCCAAACAGGTTGTGTGCTGGAGTTCCTTCAAGACAAAAAC
AAACCCAGCTTGGTCAAGGCCATTACCTGTTTCCCATCTGTAGTTATTCGATGAAGTCATGTAC
ATGACCGTTCTGTAGCAATAAATGTGCCATTTTTATAAACTGTTTCTGACACTTGTTTCATTTC
ATTTTGCATTGTCCATATAGCTATGATTCTCTTCTGTAAGTAAAACGCATCTATATTTCATTTT
CCAAGTGTTGGAGGTATTGACAGCTTAACAAACAAAACATACAAAAAAAATCACAAAAACAAAT
TGAAAAGCAAAGCACATGATTGATCAAGGAAGAGATGCCCTTAATGAAAATGGAACGGGATGCA
TGCAAAACAAAAAGAAAACTGTCTAGAGGATTAACTAATTGAAGGAATATAATTAATGTGTGTG
TAACACTGAAGCTATGCATTTGAAGAGCTCTGAACTGCACCAGTGTTTTCGGTTGTGCTGCAGG
TTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACCAGTTGGTCGGCTGTTTGGCAGAACATTCTC
AGATCTTTTCAGTCAAAAATCTAAGATGATTTATTTTGTATCACTTTGTTAAAAGCTGAATATT
GTTAACTACAGTTAATATTAACACTGTATTTATACTTTCTCAAACTACATCCGCCCCACCACTT
CTGGTTGCCTCTGTTGACTATTAATCCAGATGTAAACAACCAGATGTTTTTTTCTAACTTGTAC
AAACTGACGTGTGTCAACTATCATGGAAGGAAAAAAATGTACAGATTAAAATTATTCAGTGTTA
TGTACTGTAAGTTAATATTTTTGTAGAATGGACATCAATCTACTTTGCAAAATTTGGAGGCTAT
TTCAACATTGCACTGTAGAAATGTAAAGTAATGTATGCAATGTAAAGGAAAGCCCGCGGTAGCT
GAGCGCTTCATAACAGAATGTTCTAATCAAGTACGTGGTATTTGGGGATGTCTCCAATATTGCT
CTTGTATTCTTTCTAATTGGGTTTAGTGACTAGTTGAAGGAAAATGTTATAACGCCATTTGGTT
CACATGTGAAGTGCCCTCCATAGCCAAATGTTGGGATTTTTTTTTTTTTCGTTTTTGGTTGGAC
TGTTTGCAGATATTTAAATTTTATGAAATTTCCAAAGATTTTGGTTGATAACCCCCTTTTACCT
TCTAAATGATTTGAGATGTTCTTATGTTCTTACTGTGTGTTTTAAATATATATAAAAGAGCCAC
AAGCATTTAGTCTTTTAGTATTATATTTGATCATATAACTACTACTGAAAAGGGGTGGGGGGGA
ATGTGCCTGTGCACCCCTACAGTATCTTGTGTAGTGTCTATTAACATTGTTCTCTTTTAGAGGA
CCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001369574 ⟹ NP_001356503

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,588,192 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,791,244 (-)	NCBI

Sequence:

show sequence

GCGGATCTGTAGTGGCGGCGGCGGCGGCGGCGGCGGGGAGGCAGCAGGCGCGGGAGCGGGCGCA
GGAGCAGGCGGCGGCGGTGGCGGCGGCGGTTAGACATGAACGCCGCCTCGGCGCCGGCGGTGCA
CGGAGAGCCCCTTCTCGCGCGCGGGCGGTTTGTGTGATTTTGCTAAAATGCATCACCAACAGCG
AATGGCTGCCTTAGGGACGGACAAAGAGCTGAGTGATTTACTGGATTTCAGTGCGATGTTTTCA
CCTCCTGTGAGCAGTGGGAAAAATGGACCAACTTCTTTGGCAAGTGGACATTTTACTGGCTCAA
ATGTAGAAGACAGAAGTAGCTCAGGGTCCTGGGGGAATGGAGGACATCCAAGCCCGTCCAGGAA
CTATGGAGATGGGACTCCCTATGACCACATGACCAGCAGGGACCTTGGGTCACATGACAATCTC
TCTCCACCTTTTGTCAATTCCAGAATACAAAGTAAAACAGAAAGGGGCTCATACTCATCTTATG
GGAGAGAATCAAACTTACAGGGTTGCCACCAGCAGAGTCTCCTTGGAGGTGACATGGATATGGG
CAACCCAGGAACCCTTTCGCCCACCAAACCTGGTTCCCAGTACTATCAGTATTCTAGCAATAAT
CCCCGAAGGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGACAAAGAAAGTTCGAAAAGTTC
CTCCAGGTTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCACTGCCGACTACAATAGGGACTC
GCCAGGCTATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCTAGCTCCTTCTTCATGCAAGAT
GGCCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTGGCTATGCAGGAA
TGTTGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCATCCACATGAACG
TTTGAGCTATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCGATGTCCACTTTC
CATCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCCAACGGGACAGACA
GTATAATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCAGACTGGAGATGCTCTGGGGAA
AGCACTTGCTTCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATCAAACCCTTCAACT
CCTGTTGGCTCTCCTCCATCTCTCTCAGGCACAGCTGTTTGGTCTAGAAATGGAGGACAGGCCT
CATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCGAATTGAAGATCGTTTAGA
AAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCT
GGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGG
GCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTGGGGACCCATCG
TGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTGCCAAACCAGGTTCCGGTTCCACAG
CTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCACCCCAGGACCCTTACAGAGGCATGC
CACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTCTGAGATCAAATCCGATGACGAGGG
TGATGAGAACCTGCAAGACACGAAATCTTCGGAGGACAAGAAATTAGATGACGACAAGAAGGAT
ATCAAATCAATTACTAGCAATAATGACGATGAGGACCTGACACCAGAGCAGAAGGCAGAGCGTG
AGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCGTCTGCGGGTCCGTGACATCAACGAGGC
TTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCTCAAGAGTGACAAGCCCCAGACCAAGCTC
CTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAGTCTGGAGCAGCAAGTCCGAGAAAGGAATC
TGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGGAAGAGAAGGTGTCCTCAGAGCCTCCCCC
TCTCTCCTTGGCCGGCCCACACCCTGGAATGGGAGACGCATCGAATCACATGGGACAGATGTAA
AAGGGTCCAAGTTGCCACATTGCTTCATTAAAACAAGAGACCACTTCCTTAACAGCTGTATTAT
CTTAAACCCACATAAACACTTCTCCTTAACCCCCATTTTTGTAATATAAGACAAGTCTGAGTAG
TTATGAATCGCAGACGCAAGAGGTTTCAGCATTCCCAATTATCAAAAAACAGAAAAACAAAAAA
AAGAAAGAAAAAAGTGCAACTTGAGGGACGACTTTCTTTAACATATCATTCAGAATGTGCAAAG
CAGTATGTACAGGCTGAGACACAGCCCAGAGACTGAACGGCAATCTTTCCACACTGTGGAACAA
TGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAAAATATAATTAATTTGTAAGTCTGAAAAAAA
AATATTTAATTTAAAAAAAATTGTAAACTTGCAATAATGAAAAAGTGTACTTCTGAAGAAAACT
ACATGAACGTTTTTGTTGGTATTCAAGTCAGCTAGTGTTTATAATTACTGGATATTGAATTAGG
GGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAAACGTCCTGATGACAACGAAGTGATGACATT
AGCCATTCCTTAGGGTAGGAGGAACAGATGGATCTTATAGACCTATGACAAATATATATATAAA
TATATATATAAATATATATTAAAAATTTAGTGACTATGGTAAGCTTTTGTTCATTTGTTTCAGA
CTTTTTTCTCCTGTAAAAAAATAGTACTGATTAACTTTTTTAAAAGAAAGATTTTACTGTAAAT
ATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCCCTTTCCCTGGTTTGTTATCGTAACCTGTAG
TGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGATGAAATGCTGACCCTGATGTTGCTTCTCATT
CATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTTGGGAACACAGGACTTAAAAGTCACATCAT
GTGTAGATATTACAAGCAGCATTACCAAGACATGGCAAAAAGAGTTTGTCTGAATTGTAATGTT
GCGTTTGTGAACCTATTCTGGGATTTTCAGAGGTACAAGGTTAGAATGCTACAATGTTACCACT
GTGCCTTCCAATGTTTATATCATCGGAAACATAACATAATCAAAGTGGCTGTGATTTAACAAAA
TGATTAAAGTGTTACCTACCTGTGTAGCCGAAGTAGTGTGCAGTGAGGCGTTTCTGAATACATG
GTCAGATTTTTGGAAAAAAACAAAAACAAAAAAAACAAGTAAAGTTCAAAAACCGTCAAATGAG
AAAATTGCAAGTAGTGTGACAGAGCTGATTGATTTTGTTGCTTTCTTGATTTTTTTTTTCAAAA
TGGGTTTACTAAAATGTAGATGACTTAACTGCCTCCTCCTTCGTCTGAAAAATGCCAATATTCA
ATCATCATGCAGCATTATAACAAGCCTTATAAGTCCTAAAGCATTAAGTTGCACTTTTTTGAGG
AGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAATGAAGTTTATACTTACCATATTTGATAGAA
ACATAGATCAAGCTATGGCACAGCGACTCATCAGATAGCTAGCTTTGACGTCTGGGCACAATTG
AACCAACTTCCATCGTGAATCTTTATAATGATTGACTTTGGTGTATAGTGCAGTAAACAAATAG
TGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTGTCTCTAACTTGTTTCTATTTTTACAGCCAC
ACAATTCTTGGCATGTATTAAGAAAAAAAAAAATCCCTGTTCAAGTAGTTTTTCCACCTATCAG
CACTGAGTAAATGCCATAAATCCATTGAAATGGTCTAAATGTTCCATCTGTTCTCCTGTTTTGC
CAGTTATATAGTAATGAAATACATTTGTAAATTTTATGCAACAAATGGCAAACGTATCATTATT
TTGAAATTGTGTATGTAAAAGTTATATTTTTACATGTAGACTCTTGTTATTATGTGTTTTAATA
CATTGTATCAGTTTTTGTTTTTTTTTAAAAACTGTGGTTTAAAAAGAAGTCTCATTTAAATGAA
ATAGCTACAAGAATCAGAATTTTATGTTCATTTCTGAAAATGTAAGAACAAATAAGATAGTTAC
CACGTGGTCATCTTTTACAAACCCATAAACATTTTGATTAGCTGTGTGTGTGTTGAAAAACTGT
AAATATGTTCAGTAGCGATAAAACTAAAATAACTTTGATTTGTTGATAAGTTCCTAAAATGTGG
AGGTGGATTAAAACCTTAGGAGAATAGCAGAAATCAAACTTCATGAAAAGTTATTTTGGGGCTT
TCCTGTGAAATGTATGAACAAAGAGGCTCAGAGAAGGACATGGAAGACAATAATGTATACTCTC
TCCTCCTCCCTGAATAATGAAAACCATGTGTATTTGTTCCCTCCGTATGTTAAAGATTTCCTTT
TAGTGGTACATTCTGCACTCATTTTGTATAGTCTACCAAGGCGGGTATCCCTAGGAACAATATT
ATATAGGAAGCAGGTATACTCTGATCACATTCAGGATAAGTGTACAGAAGAAAATACGGTGTTT
ACTCTTTAGGGAACTGGAAACACTCCCTGCATTGATGTACATTTTAAGAATGGCACTTTTGATA
CATGTTATCATAAAGGTGCTTAATAGAGCTGAATTAAAGTTTTTCAAATCTGTAAACAAAGCAA
AAAAGTAAATTGTAGTCATTTGATTATTTTTTAAATTGGTGCTTTATATTTTGTTCTCACTCAG
AGTAAAAGCTGCAATTTATTGTTCACCAGCTTTGATGTATTCATTACTCAGTAATGCAATACCT
CTATTGTTGAATTCCCTTTGGAAATAAGTGAAAATTCTAACGGCCACTGAAAGCTGCTCGCTAG
GTTTTGCTTGGTGGAGAAACATAATCTGCACCTATCCATATTAATTGGGTTGTATCCCCATTAA
AAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTGTTTTTTATTGTTGTTGTTTTGTAATTATC
AAACCCAGGTAAGATATTGGTATCCTGCACTGGATTTTCAAATGAAGTTCAGCAGAAGACAGTT
AAGATTAAAGTACTATACAAAAATTTCAAAAGGGTCCATACTACGCTATCTGTATGACGACACT
TAGGCTGGGGATCTCTTTCAGAAACTCGGACTTTAAAAGCAACTTGGAGCAGTTGATCCACCTC
CACATTCAAGTAATTTATGAATATGCAGAATAGGGATCTGTTCATCTAGAAATTTTTACCATTT
GTCTTCTGTGTAGCTGCAAGGAACACTAATGTTTATACAACTGTCAGTCCACCCAGTGGTGCAA
CTGGTTCTGATTCAGTCTTCCGATTCCTTTTTATTTTTCACTTTTTCCTATTTCTGAATTTTTT
TTTTTATTTGTGATCTTGATTTTGATGAGGGGTTGGGGAGTGGGGAGGGAGTCGAACCAAGACT
TGGAGTTAAGAGGATTTTCATCTTTTGCATCCAACAGGCAGAATATGATCTGTGTCCAAAAGTG
AACTTGAGTCAGGAATGAATCAATTTCAGCATAAACAAGCACAAAAATTTAGTCTGCTGGCTGA
CTGGAAGCAAAAAAGTCAAGATGGAATATGATGAATTCCAACACAATGGGGCACCAAGGCCTTT
AGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTGTTTTTCTTTAGAGACATGCTCTTTCTCAT
GGGACTTGAAGTGGACTCATCTTTGTGCAGTGCTGGTTTTGCCATACTCATTTCAAGTATTATA
GACATATGTAATGGTGAAAATATATGAACTGTGGCCTTTTTCATTCTTGTTACTTGTGATGCAA
TTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGAGATTTACCATGTATCAGTGCCTGGCTTTT
TGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCTATAAAATAGACTGTAGTACACCCTAGTA
GGAAAAAAAAAAAACTAAATTTAAAAATAAAAAATATATTTGGCTTATTTTTCGCAGGAGCAAT
CCTTTTATACCATGAATATTACAAAAAAATTGTCAGATTCTGAATATTTCTTCTTTGTAGATTT
TTGGAATCATTATGAGTAAAAGTTTGTTACTTTATTTTACTATTTAAAAGATGTTATTTTACCA
TGTGTTACCAAGATGAAACTGTATGGGTAGCTTTTTTGTTTGTTTTTTGTTTTGTTTTTGTTTT
TGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAATTTTTTGCGACTGTACACATAGCTGCAG
CATTAAAAACTTAAAAAAATTGTTAAAAAAAAAAAAAGGGAAAACATTTCAAAAAAAAAAAAAA
AGATAAACAGTTACACCTTGTTTTCAATGTGTGGCTGAGTGCCTCGATTTTTTCATGTTTTTGG
TGTATTTCTGATTTGTAGAAGTGTCCAAACAGGTTGTGTGCTGGAGTTCCTTCAAGACAAAAAC
AAACCCAGCTTGGTCAAGGCCATTACCTGTTTCCCATCTGTAGTTATTCGATGAAGTCATGTAC
ATGACCGTTCTGTAGCAATAAATGTGCCATTTTTATAAACTGTTTCTGACACTTGTTTCATTTC
ATTTTGCATTGTCCATATAGCTATGATTCTCTTCTGTAAGTAAAACGCATCTATATTTCATTTT
CCAAGTGTTGGAGGTATTGACAGCTTAACAAACAAAACATACAAAAAAAATCACAAAAACAAAT
TGAAAAGCAAAGCACATGATTGATCAAGGAAGAGATGCCCTTAATGAAAATGGAACGGGATGCA
TGCAAAACAAAAAGAAAACTGTCTAGAGGATTAACTAATTGAAGGAATATAATTAATGTGTGTG
TAACACTGAAGCTATGCATTTGAAGAGCTCTGAACTGCACCAGTGTTTTCGGTTGTGCTGCAGG
TTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACCAGTTGGTCGGCTGTTTGGCAGAACATTCTC
AGATCTTTTCAGTCAAAAATCTAAGATGATTTATTTTGTATCACTTTGTTAAAAGCTGAATATT
GTTAACTACAGTTAATATTAACACTGTATTTATACTTTCTCAAACTACATCCGCCCCACCACTT
CTGGTTGCCTCTGTTGACTATTAATCCAGATGTAAACAACCAGATGTTTTTTTCTAACTTGTAC
AAACTGACGTGTGTCAACTATCATGGAAGGAAAAAAATGTACAGATTAAAATTATTCAGTGTTA
TGTACTGTAAGTTAATATTTTTGTAGAATGGACATCAATCTACTTTGCAAAATTTGGAGGCTAT
TTCAACATTGCACTGTAGAAATGTAAAGTAATGTATGCAATGTAAAGGAAAGCCCGCGGTAGCT
GAGCGCTTCATAACAGAATGTTCTAATCAAGTACGTGGTATTTGGGGATGTCTCCAATATTGCT
CTTGTATTCTTTCTAATTGGGTTTAGTGACTAGTTGAAGGAAAATGTTATAACGCCATTTGGTT
CACATGTGAAGTGCCCTCCATAGCCAAATGTTGGGATTTTTTTTTTTTTCGTTTTTGGTTGGAC
TGTTTGCAGATATTTAAATTTTATGAAATTTCCAAAGATTTTGGTTGATAACCCCCTTTTACCT
TCTAAATGATTTGAGATGTTCTTATGTTCTTACTGTGTGTTTTAAATATATATAAAAGAGCCAC
AAGCATTTAGTCTTTTAGTATTATATTTGATCATATAACTACTACTGAAAAGGGGTGGGGGGGA
ATGTGCCTGTGCACCCCTACAGTATCTTGTGTAGTGTCTATTAACATTGTTCTCTTTTAGAGGA
CCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001369575 ⟹ NP_001356504

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,588,192 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,791,244 (-)	NCBI

Sequence:

show sequence

GCGGATCTGTAGTGGCGGCGGCGGCGGCGGCGGCGGGGAGGCAGCAGGCGCGGGAGCGGGCGCA
GGAGCAGGCGGCGGCGGTGGCGGCGGCGGTTAGACATGAACGCCGCCTCGGCGCCGGCGGTGCA
CGGAGAGCCCCTTCTCGCGCGCGGGCGATGTTTTCACCTCCTGTGAGCAGTGGGAAAAATGGAC
CAACTTCTTTGGCAAGTGGACATTTTACTGGCTCAAATGTAGAAGACAGAAGTAGCTCAGGGTC
CTGGGGGAATGGAGGACATCCAAGCCCGTCCAGGAACTATGGAGATGGGACTCCCTATGACCAC
ATGACCAGCAGGGACCTTGGGTCACATGACAATCTCTCTCCACCTTTTGTCAATTCCAGAATAC
AAAGTAAAACAGAAAGGGGCTCATACTCATCTTATGGGAGAGAATCAAACTTACAGGGTTGCCA
CCAGCAGAGTCTCCTTGGAGGTGACATGGATATGGGCAACCCAGGAACCCTTTCGCCCACCAAA
CCTGGTTCCCAGTACTATCAGTATTCTAGCAATAATCCCCGAAGGAGGCCTCTTCACAGTAGTG
CCATGGAGGTACAGACAAAGAAAGTTCGAAAAGTTCCTCCAGGTTTGCCATCTTCAGTCTATGC
TCCATCAGCAAGCACTGCCGACTACAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCA
ACCAGCACTTTCCCTAGCTCCTTCTTCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCT
CCTCCAGTGGGATGAATCAGCCTGGCTATGCAGGAATGTTGGGCAACTCTTCTCATATTCCACA
GTCCAGCAGCTACTGTAGCCTGCATCCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCA
GACATCAATTCCAGTCTTCCTCCGATGTCCACTTTCCATCGTAGTGGTACAAACCATTACAGCA
CCTCTTCCTGTACGCCTCCTGCCAACGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGC
AGCCGGCAGCTCCCAGACTGGAGATGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGAT
CACACTAACAACAGCTTTTCATCAAACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAG
CAGGCACAGCTGTTTGGTCTAGAAATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACC
CTTACACTCTTTGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTT
CTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAA
TCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCT
TTCAGCCAACAGACATTCACTCATGGTGGGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGC
AGCCATTCTCTTCTGCCAAACCAGGTTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCC
CTGACCTGAACCCACCCCAGGACCCTTACAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGT
CTCCTCTGGCAGCTCTGAGATCAAATCCGATGACGAGGGTGATGAGAACCTGCAAGACACGAAA
TCTTCGGAGGACAAGAAATTAGATGACGACAAGAAGGATATCAAATCAATTACTAGGTCAAGAT
CTAGCAATAATGACGATGAGGACCTGACACCAGAGCAGAAGGCAGAGCGTGAGAAGGAGCGGAG
GATGGCCAACAATGCCCGAGAGCGTCTGCGGGTCCGTGACATCAACGAGGCTTTCAAAGAGCTC
GGCCGCATGGTGCAGCTCCACCTCAAGAGTGACAAGCCCCAGACCAAGCTCCTGATCCTCCACC
AGGCGGTGGCCGTCATCCTCAGTCTGGAGCAGCAAGTCCGAGAAAGGAATCTGAATCCGAAAGC
TGCGTGTCTGAAAAGAAGGGAGGAAGAGAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTTGGCC
GGCCCACACCCTGGAATGGGAGACGCATCGAATCACATGGGACAGATGTAAAAGGGTCCAAGTT
GCCACATTGCTTCATTAAAACAAGAGACCACTTCCTTAACAGCTGTATTATCTTAAACCCACAT
AAACACTTCTCCTTAACCCCCATTTTTGTAATATAAGACAAGTCTGAGTAGTTATGAATCGCAG
ACGCAAGAGGTTTCAGCATTCCCAATTATCAAAAAACAGAAAAACAAAAAAAAGAAAGAAAAAA
GTGCAACTTGAGGGACGACTTTCTTTAACATATCATTCAGAATGTGCAAAGCAGTATGTACAGG
CTGAGACACAGCCCAGAGACTGAACGGCAATCTTTCCACACTGTGGAACAATGCATTTGTGCCT
AAACTTCTTTTGGAAAAAAAAAATATAATTAATTTGTAAGTCTGAAAAAAAAATATTTAATTTA
AAAAAAATTGTAAACTTGCAATAATGAAAAAGTGTACTTCTGAAGAAAACTACATGAACGTTTT
TGTTGGTATTCAAGTCAGCTAGTGTTTATAATTACTGGATATTGAATTAGGGGAAGCTCGGCTG
CCCTAGTAACAAAACCAGCAAACGTCCTGATGACAACGAAGTGATGACATTAGCCATTCCTTAG
GGTAGGAGGAACAGATGGATCTTATAGACCTATGACAAATATATATATAAATATATATATAAAT
ATATATTAAAAATTTAGTGACTATGGTAAGCTTTTGTTCATTTGTTTCAGACTTTTTTCTCCTG
TAAAAAAATAGTACTGATTAACTTTTTTAAAAGAAAGATTTTACTGTAAATATGGATTTTTTTT
TTTTTGGTCTTATTTCTGTCCCTTTCCCTGGTTTGTTATCGTAACCTGTAGTGCCAACTCTGCT
TCCAGAGGGGTAGTGCAGGATGAAATGCTGACCCTGATGTTGCTTCTCATTCATAAATAAGTAG
AAAGTTGTTTCTCCAGTCTTTTGGGAACACAGGACTTAAAAGTCACATCATGTGTAGATATTAC
AAGCAGCATTACCAAGACATGGCAAAAAGAGTTTGTCTGAATTGTAATGTTGCGTTTGTGAACC
TATTCTGGGATTTTCAGAGGTACAAGGTTAGAATGCTACAATGTTACCACTGTGCCTTCCAATG
TTTATATCATCGGAAACATAACATAATCAAAGTGGCTGTGATTTAACAAAATGATTAAAGTGTT
ACCTACCTGTGTAGCCGAAGTAGTGTGCAGTGAGGCGTTTCTGAATACATGGTCAGATTTTTGG
AAAAAAACAAAAACAAAAAAAACAAGTAAAGTTCAAAAACCGTCAAATGAGAAAATTGCAAGTA
GTGTGACAGAGCTGATTGATTTTGTTGCTTTCTTGATTTTTTTTTTCAAAATGGGTTTACTAAA
ATGTAGATGACTTAACTGCCTCCTCCTTCGTCTGAAAAATGCCAATATTCAATCATCATGCAGC
ATTATAACAAGCCTTATAAGTCCTAAAGCATTAAGTTGCACTTTTTTGAGGAGGGGTAGTGCAG
TATTTCTCTGGCCAGTATGAATGAAGTTTATACTTACCATATTTGATAGAAACATAGATCAAGC
TATGGCACAGCGACTCATCAGATAGCTAGCTTTGACGTCTGGGCACAATTGAACCAACTTCCAT
CGTGAATCTTTATAATGATTGACTTTGGTGTATAGTGCAGTAAACAAATAGTGCTCCTAGTTAA
GTATTTGTCAGCATCCTTTTGTCTCTAACTTGTTTCTATTTTTACAGCCACACAATTCTTGGCA
TGTATTAAGAAAAAAAAAAATCCCTGTTCAAGTAGTTTTTCCACCTATCAGCACTGAGTAAATG
CCATAAATCCATTGAAATGGTCTAAATGTTCCATCTGTTCTCCTGTTTTGCCAGTTATATAGTA
ATGAAATACATTTGTAAATTTTATGCAACAAATGGCAAACGTATCATTATTTTGAAATTGTGTA
TGTAAAAGTTATATTTTTACATGTAGACTCTTGTTATTATGTGTTTTAATACATTGTATCAGTT
TTTGTTTTTTTTTAAAAACTGTGGTTTAAAAAGAAGTCTCATTTAAATGAAATAGCTACAAGAA
TCAGAATTTTATGTTCATTTCTGAAAATGTAAGAACAAATAAGATAGTTACCACGTGGTCATCT
TTTACAAACCCATAAACATTTTGATTAGCTGTGTGTGTGTTGAAAAACTGTAAATATGTTCAGT
AGCGATAAAACTAAAATAACTTTGATTTGTTGATAAGTTCCTAAAATGTGGAGGTGGATTAAAA
CCTTAGGAGAATAGCAGAAATCAAACTTCATGAAAAGTTATTTTGGGGCTTTCCTGTGAAATGT
ATGAACAAAGAGGCTCAGAGAAGGACATGGAAGACAATAATGTATACTCTCTCCTCCTCCCTGA
ATAATGAAAACCATGTGTATTTGTTCCCTCCGTATGTTAAAGATTTCCTTTTAGTGGTACATTC
TGCACTCATTTTGTATAGTCTACCAAGGCGGGTATCCCTAGGAACAATATTATATAGGAAGCAG
GTATACTCTGATCACATTCAGGATAAGTGTACAGAAGAAAATACGGTGTTTACTCTTTAGGGAA
CTGGAAACACTCCCTGCATTGATGTACATTTTAAGAATGGCACTTTTGATACATGTTATCATAA
AGGTGCTTAATAGAGCTGAATTAAAGTTTTTCAAATCTGTAAACAAAGCAAAAAAGTAAATTGT
AGTCATTTGATTATTTTTTAAATTGGTGCTTTATATTTTGTTCTCACTCAGAGTAAAAGCTGCA
ATTTATTGTTCACCAGCTTTGATGTATTCATTACTCAGTAATGCAATACCTCTATTGTTGAATT
CCCTTTGGAAATAAGTGAAAATTCTAACGGCCACTGAAAGCTGCTCGCTAGGTTTTGCTTGGTG
GAGAAACATAATCTGCACCTATCCATATTAATTGGGTTGTATCCCCATTAAAAAAGAAAAAAAG
GGAATGTGGCCTTTTTAGTGTGTTTTTTATTGTTGTTGTTTTGTAATTATCAAACCCAGGTAAG
ATATTGGTATCCTGCACTGGATTTTCAAATGAAGTTCAGCAGAAGACAGTTAAGATTAAAGTAC
TATACAAAAATTTCAAAAGGGTCCATACTACGCTATCTGTATGACGACACTTAGGCTGGGGATC
TCTTTCAGAAACTCGGACTTTAAAAGCAACTTGGAGCAGTTGATCCACCTCCACATTCAAGTAA
TTTATGAATATGCAGAATAGGGATCTGTTCATCTAGAAATTTTTACCATTTGTCTTCTGTGTAG
CTGCAAGGAACACTAATGTTTATACAACTGTCAGTCCACCCAGTGGTGCAACTGGTTCTGATTC
AGTCTTCCGATTCCTTTTTATTTTTCACTTTTTCCTATTTCTGAATTTTTTTTTTTATTTGTGA
TCTTGATTTTGATGAGGGGTTGGGGAGTGGGGAGGGAGTCGAACCAAGACTTGGAGTTAAGAGG
ATTTTCATCTTTTGCATCCAACAGGCAGAATATGATCTGTGTCCAAAAGTGAACTTGAGTCAGG
AATGAATCAATTTCAGCATAAACAAGCACAAAAATTTAGTCTGCTGGCTGACTGGAAGCAAAAA
AGTCAAGATGGAATATGATGAATTCCAACACAATGGGGCACCAAGGCCTTTAGGCCTCTCTTTT
TATTTTGCTTTGGTTTTGTTTGTTTTTCTTTAGAGACATGCTCTTTCTCATGGGACTTGAAGTG
GACTCATCTTTGTGCAGTGCTGGTTTTGCCATACTCATTTCAAGTATTATAGACATATGTAATG
GTGAAAATATATGAACTGTGGCCTTTTTCATTCTTGTTACTTGTGATGCAATTAAGTGAAGATA
AGAAAAAAAAAAAAAAAGCAGAGATTTACCATGTATCAGTGCCTGGCTTTTTGTTATAAAGCTT
TGTTTGTCTAGTGCTCTTTTGCTATAAAATAGACTGTAGTACACCCTAGTAGGAAAAAAAAAAA
ACTAAATTTAAAAATAAAAAATATATTTGGCTTATTTTTCGCAGGAGCAATCCTTTTATACCAT
GAATATTACAAAAAAATTGTCAGATTCTGAATATTTCTTCTTTGTAGATTTTTGGAATCATTAT
GAGTAAAAGTTTGTTACTTTATTTTACTATTTAAAAGATGTTATTTTACCATGTGTTACCAAGA
TGAAACTGTATGGGTAGCTTTTTTGTTTGTTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTT
AGTTGTAGGTCGCAGCGGGGAAATTTTTTGCGACTGTACACATAGCTGCAGCATTAAAAACTTA
AAAAAATTGTTAAAAAAAAAAAAAGGGAAAACATTTCAAAAAAAAAAAAAAAGATAAACAGTTA
CACCTTGTTTTCAATGTGTGGCTGAGTGCCTCGATTTTTTCATGTTTTTGGTGTATTTCTGATT
TGTAGAAGTGTCCAAACAGGTTGTGTGCTGGAGTTCCTTCAAGACAAAAACAAACCCAGCTTGG
TCAAGGCCATTACCTGTTTCCCATCTGTAGTTATTCGATGAAGTCATGTACATGACCGTTCTGT
AGCAATAAATGTGCCATTTTTATAAACTGTTTCTGACACTTGTTTCATTTCATTTTGCATTGTC
CATATAGCTATGATTCTCTTCTGTAAGTAAAACGCATCTATATTTCATTTTCCAAGTGTTGGAG
GTATTGACAGCTTAACAAACAAAACATACAAAAAAAATCACAAAAACAAATTGAAAAGCAAAGC
ACATGATTGATCAAGGAAGAGATGCCCTTAATGAAAATGGAACGGGATGCATGCAAAACAAAAA
GAAAACTGTCTAGAGGATTAACTAATTGAAGGAATATAATTAATGTGTGTGTAACACTGAAGCT
ATGCATTTGAAGAGCTCTGAACTGCACCAGTGTTTTCGGTTGTGCTGCAGGTTGCTAAGTCAAG
TCAGCCTTAACCTTTTGCACCAGTTGGTCGGCTGTTTGGCAGAACATTCTCAGATCTTTTCAGT
CAAAAATCTAAGATGATTTATTTTGTATCACTTTGTTAAAAGCTGAATATTGTTAACTACAGTT
AATATTAACACTGTATTTATACTTTCTCAAACTACATCCGCCCCACCACTTCTGGTTGCCTCTG
TTGACTATTAATCCAGATGTAAACAACCAGATGTTTTTTTCTAACTTGTACAAACTGACGTGTG
TCAACTATCATGGAAGGAAAAAAATGTACAGATTAAAATTATTCAGTGTTATGTACTGTAAGTT
AATATTTTTGTAGAATGGACATCAATCTACTTTGCAAAATTTGGAGGCTATTTCAACATTGCAC
TGTAGAAATGTAAAGTAATGTATGCAATGTAAAGGAAAGCCCGCGGTAGCTGAGCGCTTCATAA
CAGAATGTTCTAATCAAGTACGTGGTATTTGGGGATGTCTCCAATATTGCTCTTGTATTCTTTC
TAATTGGGTTTAGTGACTAGTTGAAGGAAAATGTTATAACGCCATTTGGTTCACATGTGAAGTG
CCCTCCATAGCCAAATGTTGGGATTTTTTTTTTTTTCGTTTTTGGTTGGACTGTTTGCAGATAT
TTAAATTTTATGAAATTTCCAAAGATTTTGGTTGATAACCCCCTTTTACCTTCTAAATGATTTG
AGATGTTCTTATGTTCTTACTGTGTGTTTTAAATATATATAAAAGAGCCACAAGCATTTAGTCT
TTTAGTATTATATTTGATCATATAACTACTACTGAAAAGGGGTGGGGGGGAATGTGCCTGTGCA
CCCCTACAGTATCTTGTGTAGTGTCTATTAACATTGTTCTCTTTTAGAGGACCACATTAAAAGG
TACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001369576 ⟹ NP_001356505

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,589,811 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,792,862 (-)	NCBI

Sequence:

show sequence

CTCTTTATAAGCCCGCAGTTCCCGGATGTGAATGGATTACAATGTATCTTTCAGGGAAACCTAT
TATTATCAATGTGACTCCACGGGGGAGTCCATGGTGATGATGATGAGGAGGAGGATGATGATGA
TGAGACACCTCTAAACTTGGAACAAGTTTAAGACTTTATGAGAGAAGAAAAAAAATCACCAACA
AGAATTGTTTGAGGAAAAATTATAACTATCCTGTGTTCATTTTTTTTTTTATAAACAATAAGAA
AAAGTTGTTGGATTTTTTTTTAATGATTTCTTTTTTGGGGGAGGGAATTTTGTTGCAGTTTTAT
GGTGGAAAATGCAAAAACCAGAGCCAGGTGCATAATCTTGTAATCTGTGGATATCCCTGGAGCA
GGACTGAGTACCAGTTAAAATACTTTTTGGGGATACACATGTGAGATACTAAGTACTTGCAGAA
GATTTTTGTCTCTCTTTTTAAAGTCTCTTTCCTTGGAATATTGTGAGAATATTTGTGGCCATTT
AAGATGTTTTCACCTCCTGTGAGCAGTGGGAAAAATGGACCAACTTCTTTGGCAAGTGGACATT
TTACTGGCTCAAATGTAGAAGACAGAAGTAGCTCAGGGTCCTGGGGGAATGGAGGACATCCAAG
CCCGTCCAGGAACTATGGAGATGGGACTCCCTATGACCACATGACCAGCAGGGACCTTGGGTCA
CATGACAATCTCTCTCCACCTTTTGTCAATTCCAGAATACAAAGTAAAACAGAAAGGGGCTCAT
ACTCATCTTATGGGAGAGAATCAAACTTACAGGGTTGCCACCAGAGTCTCCTTGGAGGTGACAT
GGATATGGGCAACCCAGGAACCCTTTCGCCCACCAAACCTGGTTCCCAGTACTATCAGTATTCT
AGCAATAATCCCCGAAGGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGACAAAGAAAGTTC
GAAAAGTTCCTCCAGGTTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCACTGCCGACTACAA
TAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCTAGCTCCTTCTTC
ATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTGGCT
ATGCAGGAATGTTGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCATCC
ACATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCGATG
TCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCCAACG
GGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCAGACTGGAGATGC
TCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATCAAAC
CCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAGCAGGCACAGCTGTTTGGTCTAGAAATG
GAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCGAATTGA
AGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCC
ACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCA
TGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGT
GGGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTGCCAAACCAGGTT
CCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCACCCCAGGACCCTT
ACAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTCTGAGATCAAATC
CGATGACGAGGGTGATGAGAACCTGCAAGACACGAAATCTTCGGAGGACAAGAAATTAGATGAC
GACAAGAAGGATATCAAATCAATTACTAGGTCAAGATCTAGCAATAATGACGATGAGGACCTGA
CACCAGAGCAGAAGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCGTCT
GCGGGTCCGTGACATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCTCAAG
AGTGACAAGCCCCAGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAGTCTGG
AGCAGCAAGTCCGAGAAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGGAAGA
GAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGAATGGGAGACGCA
TCGAATCACATGGGACAGATGTAAAAGGGTCCAAGTTGCCACATTGCTTCATTAAAACAAGAGA
CCACTTCCTTAACAGCTGTATTATCTTAAACCCACATAAACACTTCTCCTTAACCCCCATTTTT
GTAATATAAGACAAGTCTGAGTAGTTATGAATCGCAGACGCAAGAGGTTTCAGCATTCCCAATT
ATCAAAAAACAGAAAAACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGACGACTTTCTTTA
ACATATCATTCAGAATGTGCAAAGCAGTATGTACAGGCTGAGACACAGCCCAGAGACTGAACGG
CAATCTTTCCACACTGTGGAACAATGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAAAATATA
ATTAATTTGTAAGTCTGAAAAAAAAATATTTAATTTAAAAAAAATTGTAAACTTGCAATAATGA
AAAAGTGTACTTCTGAAGAAAACTACATGAACGTTTTTGTTGGTATTCAAGTCAGCTAGTGTTT
ATAATTACTGGATATTGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAAACGTCC
TGATGACAACGAAGTGATGACATTAGCCATTCCTTAGGGTAGGAGGAACAGATGGATCTTATAG
ACCTATGACAAATATATATATAAATATATATATAAATATATATTAAAAATTTAGTGACTATGGT
AAGCTTTTGTTCATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGTACTGATTAACTTTTT
TAAAAGAAAGATTTTACTGTAAATATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCCCTTTCC
CTGGTTTGTTATCGTAACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGATGAAATG
CTGACCCTGATGTTGCTTCTCATTCATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTTGGGAA
CACAGGACTTAAAAGTCACATCATGTGTAGATATTACAAGCAGCATTACCAAGACATGGCAAAA
AGAGTTTGTCTGAATTGTAATGTTGCGTTTGTGAACCTATTCTGGGATTTTCAGAGGTACAAGG
TTAGAATGCTACAATGTTACCACTGTGCCTTCCAATGTTTATATCATCGGAAACATAACATAAT
CAAAGTGGCTGTGATTTAACAAAATGATTAAAGTGTTACCTACCTGTGTAGCCGAAGTAGTGTG
CAGTGAGGCGTTTCTGAATACATGGTCAGATTTTTGGAAAAAAACAAAAACAAAAAAAACAAGT
AAAGTTCAAAAACCGTCAAATGAGAAAATTGCAAGTAGTGTGACAGAGCTGATTGATTTTGTTG
CTTTCTTGATTTTTTTTTTCAAAATGGGTTTACTAAAATGTAGATGACTTAACTGCCTCCTCCT
TCGTCTGAAAAATGCCAATATTCAATCATCATGCAGCATTATAACAAGCCTTATAAGTCCTAAA
GCATTAAGTTGCACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAATGAAGT
TTATACTTACCATATTTGATAGAAACATAGATCAAGCTATGGCACAGCGACTCATCAGATAGCT
AGCTTTGACGTCTGGGCACAATTGAACCAACTTCCATCGTGAATCTTTATAATGATTGACTTTG
GTGTATAGTGCAGTAAACAAATAGTGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTGTCTCTA
ACTTGTTTCTATTTTTACAGCCACACAATTCTTGGCATGTATTAAGAAAAAAAAAAATCCCTGT
TCAAGTAGTTTTTCCACCTATCAGCACTGAGTAAATGCCATAAATCCATTGAAATGGTCTAAAT
GTTCCATCTGTTCTCCTGTTTTGCCAGTTATATAGTAATGAAATACATTTGTAAATTTTATGCA
ACAAATGGCAAACGTATCATTATTTTGAAATTGTGTATGTAAAAGTTATATTTTTACATGTAGA
CTCTTGTTATTATGTGTTTTAATACATTGTATCAGTTTTTGTTTTTTTTTAAAAACTGTGGTTT
AAAAAGAAGTCTCATTTAAATGAAATAGCTACAAGAATCAGAATTTTATGTTCATTTCTGAAAA
TGTAAGAACAAATAAGATAGTTACCACGTGGTCATCTTTTACAAACCCATAAACATTTTGATTA
GCTGTGTGTGTGTTGAAAAACTGTAAATATGTTCAGTAGCGATAAAACTAAAATAACTTTGATT
TGTTGATAAGTTCCTAAAATGTGGAGGTGGATTAAAACCTTAGGAGAATAGCAGAAATCAAACT
TCATGAAAAGTTATTTTGGGGCTTTCCTGTGAAATGTATGAACAAAGAGGCTCAGAGAAGGACA
TGGAAGACAATAATGTATACTCTCTCCTCCTCCCTGAATAATGAAAACCATGTGTATTTGTTCC
CTCCGTATGTTAAAGATTTCCTTTTAGTGGTACATTCTGCACTCATTTTGTATAGTCTACCAAG
GCGGGTATCCCTAGGAACAATATTATATAGGAAGCAGGTATACTCTGATCACATTCAGGATAAG
TGTACAGAAGAAAATACGGTGTTTACTCTTTAGGGAACTGGAAACACTCCCTGCATTGATGTAC
ATTTTAAGAATGGCACTTTTGATACATGTTATCATAAAGGTGCTTAATAGAGCTGAATTAAAGT
TTTTCAAATCTGTAAACAAAGCAAAAAAGTAAATTGTAGTCATTTGATTATTTTTTAAATTGGT
GCTTTATATTTTGTTCTCACTCAGAGTAAAAGCTGCAATTTATTGTTCACCAGCTTTGATGTAT
TCATTACTCAGTAATGCAATACCTCTATTGTTGAATTCCCTTTGGAAATAAGTGAAAATTCTAA
CGGCCACTGAAAGCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACATAATCTGCACCTATCCATA
TTAATTGGGTTGTATCCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTGTTTTT
TATTGTTGTTGTTTTGTAATTATCAAACCCAGGTAAGATATTGGTATCCTGCACTGGATTTTCA
AATGAAGTTCAGCAGAAGACAGTTAAGATTAAAGTACTATACAAAAATTTCAAAAGGGTCCATA
CTACGCTATCTGTATGACGACACTTAGGCTGGGGATCTCTTTCAGAAACTCGGACTTTAAAAGC
AACTTGGAGCAGTTGATCCACCTCCACATTCAAGTAATTTATGAATATGCAGAATAGGGATCTG
TTCATCTAGAAATTTTTACCATTTGTCTTCTGTGTAGCTGCAAGGAACACTAATGTTTATACAA
CTGTCAGTCCACCCAGTGGTGCAACTGGTTCTGATTCAGTCTTCCGATTCCTTTTTATTTTTCA
CTTTTTCCTATTTCTGAATTTTTTTTTTTATTTGTGATCTTGATTTTGATGAGGGGTTGGGGAG
TGGGGAGGGAGTCGAACCAAGACTTGGAGTTAAGAGGATTTTCATCTTTTGCATCCAACAGGCA
GAATATGATCTGTGTCCAAAAGTGAACTTGAGTCAGGAATGAATCAATTTCAGCATAAACAAGC
ACAAAAATTTAGTCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGAATATGATGAATTCCA
ACACAATGGGGCACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTGTTTTT
CTTTAGAGACATGCTCTTTCTCATGGGACTTGAAGTGGACTCATCTTTGTGCAGTGCTGGTTTT
GCCATACTCATTTCAAGTATTATAGACATATGTAATGGTGAAAATATATGAACTGTGGCCTTTT
TCATTCTTGTTACTTGTGATGCAATTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGAGATTT
ACCATGTATCAGTGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCTATAA
AATAGACTGTAGTACACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAAAATAAAAAATATATT
TGGCTTATTTTTCGCAGGAGCAATCCTTTTATACCATGAATATTACAAAAAAATTGTCAGATTC
TGAATATTTCTTCTTTGTAGATTTTTGGAATCATTATGAGTAAAAGTTTGTTACTTTATTTTAC
TATTTAAAAGATGTTATTTTACCATGTGTTACCAAGATGAAACTGTATGGGTAGCTTTTTTGTT
TGTTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAATTTT
TTGCGACTGTACACATAGCTGCAGCATTAAAAACTTAAAAAAATTGTTAAAAAAAAAAAAAGGG
AAAACATTTCAAAAAAAAAAAAAAAGATAAACAGTTACACCTTGTTTTCAATGTGTGGCTGAGT
GCCTCGATTTTTTCATGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTCCAAACAGGTTGTGTG
CTGGAGTTCCTTCAAGACAAAAACAAACCCAGCTTGGTCAAGGCCATTACCTGTTTCCCATCTG
TAGTTATTCGATGAAGTCATGTACATGACCGTTCTGTAGCAATAAATGTGCCATTTTTATAAAC
TGTTTCTGACACTTGTTTCATTTCATTTTGCATTGTCCATATAGCTATGATTCTCTTCTGTAAG
TAAAACGCATCTATATTTCATTTTCCAAGTGTTGGAGGTATTGACAGCTTAACAAACAAAACAT
ACAAAAAAAATCACAAAAACAAATTGAAAAGCAAAGCACATGATTGATCAAGGAAGAGATGCCC
TTAATGAAAATGGAACGGGATGCATGCAAAACAAAAAGAAAACTGTCTAGAGGATTAACTAATT
GAAGGAATATAATTAATGTGTGTGTAACACTGAAGCTATGCATTTGAAGAGCTCTGAACTGCAC
CAGTGTTTTCGGTTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACCAGTTGG
TCGGCTGTTTGGCAGAACATTCTCAGATCTTTTCAGTCAAAAATCTAAGATGATTTATTTTGTA
TCACTTTGTTAAAAGCTGAATATTGTTAACTACAGTTAATATTAACACTGTATTTATACTTTCT
CAAACTACATCCGCCCCACCACTTCTGGTTGCCTCTGTTGACTATTAATCCAGATGTAAACAAC
CAGATGTTTTTTTCTAACTTGTACAAACTGACGTGTGTCAACTATCATGGAAGGAAAAAAATGT
ACAGATTAAAATTATTCAGTGTTATGTACTGTAAGTTAATATTTTTGTAGAATGGACATCAATC
TACTTTGCAAAATTTGGAGGCTATTTCAACATTGCACTGTAGAAATGTAAAGTAATGTATGCAA
TGTAAAGGAAAGCCCGCGGTAGCTGAGCGCTTCATAACAGAATGTTCTAATCAAGTACGTGGTA
TTTGGGGATGTCTCCAATATTGCTCTTGTATTCTTTCTAATTGGGTTTAGTGACTAGTTGAAGG
AAAATGTTATAACGCCATTTGGTTCACATGTGAAGTGCCCTCCATAGCCAAATGTTGGGATTTT
TTTTTTTTTCGTTTTTGGTTGGACTGTTTGCAGATATTTAAATTTTATGAAATTTCCAAAGATT
TTGGTTGATAACCCCCTTTTACCTTCTAAATGATTTGAGATGTTCTTATGTTCTTACTGTGTGT
TTTAAATATATATAAAAGAGCCACAAGCATTTAGTCTTTTAGTATTATATTTGATCATATAACT
ACTACTGAAAAGGGGTGGGGGGGAATGTGCCTGTGCACCCCTACAGTATCTTGTGTAGTGTCTA
TTAACATTGTTCTCTTTTAGAGGACCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001369577 ⟹ NP_001356506

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,589,811 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,792,862 (-)	NCBI

Sequence:

show sequence

CTCTTTATAAGCCCGCAGTTCCCGGATGTGAATGGATTACAATGTATCTTTCAGGGAAACCTAT
TATTATCAATGTGACTCCACGGGGGAGTCCATGGTGATGATGATGAGGAGGAGGATGATGATGA
TGAGACACCTCTAAACTTGGAACAAGTTTAAGACTTTATGAGAGAAGAAAAAAAATCACCAACA
AGAATTGTTTGAGGAAAAATTATAACTATCCTGTGTTCATTTTTTTTTTTATAAACAATAAGAA
AAAGTTGTTGGATTTTTTTTTAATGATTTCTTTTTTGGGGGAGGGAATTTTGTTGCAGTTTTAT
GGTGGAAAATGCAAAAACCAGAGCCAGGTGCATAATCTTGTAATCTGTGGATATCCCTGGAGCA
GGACTGAGTACCAGTTAAAATACTTTTTGGGGATACACATGTGAGATACTAAGTACTTGCAGAA
GATTTTTGTCTCTCTTTTTAAAGTCTCTTTCCTTGGAATATTGTGAGAATATTTGTGGCCATTT
AAGATGTTTTCACCTCCTGTGAGCAGTGGGAAAAATGGACCAACTTCTTTGGCAAGTGGACATT
TTACTGGCTCAAATGTAGAAGACAGAAGTAGCTCAGGGTCCTGGGGGAATGGAGGACATCCAAG
CCCGTCCAGGAACTATGGAGATGGGACTCCCTATGACCACATGACCAGCAGGGACCTTGGGTCA
CATGACAATCTCTCTCCACCTTTTGTCAATTCCAGAATACAAAGTAAAACAGAAAGGGGCTCAT
ACTCATCTTATGGGAGAGAATCAAACTTACAGGGTTGCCACCAGCAGAGTCTCCTTGGAGGTGA
CATGGATATGGGCAACCCAGGAACCCTTTCGCCCACCAAACCTGGTTCCCAGTACTATCAGTAT
TCTAGCAATAATCCCCGAAGGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGACAAAGAAAG
TTCGAAAAGTTCCTCCAGGTTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCACTGCCGACTA
CAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCTAGCTCCTTC
TTCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTG
GCTATGCAGGAATGTTGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCA
TCCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCG
ATGTCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCCA
ACGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCAGACTGGAGA
TGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATCA
AACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAGGCACAGCTGTTTGGTCTAGAAATG
GAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCGAATTGA
AGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCC
ACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCA
TGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGT
GGGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTGCCAAACCAGGTT
CCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCACCCCAGGACCCTT
ACAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTCTGAGATCAAATC
CGATGACGAGGGTGATGAGAACCTGCAAGACACGAAATCTTCGGAGGACAAGAAATTAGATGAC
GACAAGAAGGATATCAAATCAATTACTAGGTCAAGATCTAGCAATAATGACGATGAGGACCTGA
CACCAGAGCAGAAGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCGTCT
GCGGGTCCGTGACATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCTCAAG
AGTGACAAGCCCCAGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAGTCTGG
AGCAGCAAGTCCGAGAAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGGAAGA
GAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGAATGGGAGACGCA
TCGAATCACATGGGACAGATGTAAAAGGGTCCAAGTTGCCACATTGCTTCATTAAAACAAGAGA
CCACTTCCTTAACAGCTGTATTATCTTAAACCCACATAAACACTTCTCCTTAACCCCCATTTTT
GTAATATAAGACAAGTCTGAGTAGTTATGAATCGCAGACGCAAGAGGTTTCAGCATTCCCAATT
ATCAAAAAACAGAAAAACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGACGACTTTCTTTA
ACATATCATTCAGAATGTGCAAAGCAGTATGTACAGGCTGAGACACAGCCCAGAGACTGAACGG
CAATCTTTCCACACTGTGGAACAATGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAAAATATA
ATTAATTTGTAAGTCTGAAAAAAAAATATTTAATTTAAAAAAAATTGTAAACTTGCAATAATGA
AAAAGTGTACTTCTGAAGAAAACTACATGAACGTTTTTGTTGGTATTCAAGTCAGCTAGTGTTT
ATAATTACTGGATATTGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAAACGTCC
TGATGACAACGAAGTGATGACATTAGCCATTCCTTAGGGTAGGAGGAACAGATGGATCTTATAG
ACCTATGACAAATATATATATAAATATATATATAAATATATATTAAAAATTTAGTGACTATGGT
AAGCTTTTGTTCATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGTACTGATTAACTTTTT
TAAAAGAAAGATTTTACTGTAAATATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCCCTTTCC
CTGGTTTGTTATCGTAACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGATGAAATG
CTGACCCTGATGTTGCTTCTCATTCATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTTGGGAA
CACAGGACTTAAAAGTCACATCATGTGTAGATATTACAAGCAGCATTACCAAGACATGGCAAAA
AGAGTTTGTCTGAATTGTAATGTTGCGTTTGTGAACCTATTCTGGGATTTTCAGAGGTACAAGG
TTAGAATGCTACAATGTTACCACTGTGCCTTCCAATGTTTATATCATCGGAAACATAACATAAT
CAAAGTGGCTGTGATTTAACAAAATGATTAAAGTGTTACCTACCTGTGTAGCCGAAGTAGTGTG
CAGTGAGGCGTTTCTGAATACATGGTCAGATTTTTGGAAAAAAACAAAAACAAAAAAAACAAGT
AAAGTTCAAAAACCGTCAAATGAGAAAATTGCAAGTAGTGTGACAGAGCTGATTGATTTTGTTG
CTTTCTTGATTTTTTTTTTCAAAATGGGTTTACTAAAATGTAGATGACTTAACTGCCTCCTCCT
TCGTCTGAAAAATGCCAATATTCAATCATCATGCAGCATTATAACAAGCCTTATAAGTCCTAAA
GCATTAAGTTGCACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAATGAAGT
TTATACTTACCATATTTGATAGAAACATAGATCAAGCTATGGCACAGCGACTCATCAGATAGCT
AGCTTTGACGTCTGGGCACAATTGAACCAACTTCCATCGTGAATCTTTATAATGATTGACTTTG
GTGTATAGTGCAGTAAACAAATAGTGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTGTCTCTA
ACTTGTTTCTATTTTTACAGCCACACAATTCTTGGCATGTATTAAGAAAAAAAAAAATCCCTGT
TCAAGTAGTTTTTCCACCTATCAGCACTGAGTAAATGCCATAAATCCATTGAAATGGTCTAAAT
GTTCCATCTGTTCTCCTGTTTTGCCAGTTATATAGTAATGAAATACATTTGTAAATTTTATGCA
ACAAATGGCAAACGTATCATTATTTTGAAATTGTGTATGTAAAAGTTATATTTTTACATGTAGA
CTCTTGTTATTATGTGTTTTAATACATTGTATCAGTTTTTGTTTTTTTTTAAAAACTGTGGTTT
AAAAAGAAGTCTCATTTAAATGAAATAGCTACAAGAATCAGAATTTTATGTTCATTTCTGAAAA
TGTAAGAACAAATAAGATAGTTACCACGTGGTCATCTTTTACAAACCCATAAACATTTTGATTA
GCTGTGTGTGTGTTGAAAAACTGTAAATATGTTCAGTAGCGATAAAACTAAAATAACTTTGATT
TGTTGATAAGTTCCTAAAATGTGGAGGTGGATTAAAACCTTAGGAGAATAGCAGAAATCAAACT
TCATGAAAAGTTATTTTGGGGCTTTCCTGTGAAATGTATGAACAAAGAGGCTCAGAGAAGGACA
TGGAAGACAATAATGTATACTCTCTCCTCCTCCCTGAATAATGAAAACCATGTGTATTTGTTCC
CTCCGTATGTTAAAGATTTCCTTTTAGTGGTACATTCTGCACTCATTTTGTATAGTCTACCAAG
GCGGGTATCCCTAGGAACAATATTATATAGGAAGCAGGTATACTCTGATCACATTCAGGATAAG
TGTACAGAAGAAAATACGGTGTTTACTCTTTAGGGAACTGGAAACACTCCCTGCATTGATGTAC
ATTTTAAGAATGGCACTTTTGATACATGTTATCATAAAGGTGCTTAATAGAGCTGAATTAAAGT
TTTTCAAATCTGTAAACAAAGCAAAAAAGTAAATTGTAGTCATTTGATTATTTTTTAAATTGGT
GCTTTATATTTTGTTCTCACTCAGAGTAAAAGCTGCAATTTATTGTTCACCAGCTTTGATGTAT
TCATTACTCAGTAATGCAATACCTCTATTGTTGAATTCCCTTTGGAAATAAGTGAAAATTCTAA
CGGCCACTGAAAGCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACATAATCTGCACCTATCCATA
TTAATTGGGTTGTATCCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTGTTTTT
TATTGTTGTTGTTTTGTAATTATCAAACCCAGGTAAGATATTGGTATCCTGCACTGGATTTTCA
AATGAAGTTCAGCAGAAGACAGTTAAGATTAAAGTACTATACAAAAATTTCAAAAGGGTCCATA
CTACGCTATCTGTATGACGACACTTAGGCTGGGGATCTCTTTCAGAAACTCGGACTTTAAAAGC
AACTTGGAGCAGTTGATCCACCTCCACATTCAAGTAATTTATGAATATGCAGAATAGGGATCTG
TTCATCTAGAAATTTTTACCATTTGTCTTCTGTGTAGCTGCAAGGAACACTAATGTTTATACAA
CTGTCAGTCCACCCAGTGGTGCAACTGGTTCTGATTCAGTCTTCCGATTCCTTTTTATTTTTCA
CTTTTTCCTATTTCTGAATTTTTTTTTTTATTTGTGATCTTGATTTTGATGAGGGGTTGGGGAG
TGGGGAGGGAGTCGAACCAAGACTTGGAGTTAAGAGGATTTTCATCTTTTGCATCCAACAGGCA
GAATATGATCTGTGTCCAAAAGTGAACTTGAGTCAGGAATGAATCAATTTCAGCATAAACAAGC
ACAAAAATTTAGTCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGAATATGATGAATTCCA
ACACAATGGGGCACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTGTTTTT
CTTTAGAGACATGCTCTTTCTCATGGGACTTGAAGTGGACTCATCTTTGTGCAGTGCTGGTTTT
GCCATACTCATTTCAAGTATTATAGACATATGTAATGGTGAAAATATATGAACTGTGGCCTTTT
TCATTCTTGTTACTTGTGATGCAATTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGAGATTT
ACCATGTATCAGTGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCTATAA
AATAGACTGTAGTACACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAAAATAAAAAATATATT
TGGCTTATTTTTCGCAGGAGCAATCCTTTTATACCATGAATATTACAAAAAAATTGTCAGATTC
TGAATATTTCTTCTTTGTAGATTTTTGGAATCATTATGAGTAAAAGTTTGTTACTTTATTTTAC
TATTTAAAAGATGTTATTTTACCATGTGTTACCAAGATGAAACTGTATGGGTAGCTTTTTTGTT
TGTTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAATTTT
TTGCGACTGTACACATAGCTGCAGCATTAAAAACTTAAAAAAATTGTTAAAAAAAAAAAAAGGG
AAAACATTTCAAAAAAAAAAAAAAAGATAAACAGTTACACCTTGTTTTCAATGTGTGGCTGAGT
GCCTCGATTTTTTCATGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTCCAAACAGGTTGTGTG
CTGGAGTTCCTTCAAGACAAAAACAAACCCAGCTTGGTCAAGGCCATTACCTGTTTCCCATCTG
TAGTTATTCGATGAAGTCATGTACATGACCGTTCTGTAGCAATAAATGTGCCATTTTTATAAAC
TGTTTCTGACACTTGTTTCATTTCATTTTGCATTGTCCATATAGCTATGATTCTCTTCTGTAAG
TAAAACGCATCTATATTTCATTTTCCAAGTGTTGGAGGTATTGACAGCTTAACAAACAAAACAT
ACAAAAAAAATCACAAAAACAAATTGAAAAGCAAAGCACATGATTGATCAAGGAAGAGATGCCC
TTAATGAAAATGGAACGGGATGCATGCAAAACAAAAAGAAAACTGTCTAGAGGATTAACTAATT
GAAGGAATATAATTAATGTGTGTGTAACACTGAAGCTATGCATTTGAAGAGCTCTGAACTGCAC
CAGTGTTTTCGGTTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACCAGTTGG
TCGGCTGTTTGGCAGAACATTCTCAGATCTTTTCAGTCAAAAATCTAAGATGATTTATTTTGTA
TCACTTTGTTAAAAGCTGAATATTGTTAACTACAGTTAATATTAACACTGTATTTATACTTTCT
CAAACTACATCCGCCCCACCACTTCTGGTTGCCTCTGTTGACTATTAATCCAGATGTAAACAAC
CAGATGTTTTTTTCTAACTTGTACAAACTGACGTGTGTCAACTATCATGGAAGGAAAAAAATGT
ACAGATTAAAATTATTCAGTGTTATGTACTGTAAGTTAATATTTTTGTAGAATGGACATCAATC
TACTTTGCAAAATTTGGAGGCTATTTCAACATTGCACTGTAGAAATGTAAAGTAATGTATGCAA
TGTAAAGGAAAGCCCGCGGTAGCTGAGCGCTTCATAACAGAATGTTCTAATCAAGTACGTGGTA
TTTGGGGATGTCTCCAATATTGCTCTTGTATTCTTTCTAATTGGGTTTAGTGACTAGTTGAAGG
AAAATGTTATAACGCCATTTGGTTCACATGTGAAGTGCCCTCCATAGCCAAATGTTGGGATTTT
TTTTTTTTTCGTTTTTGGTTGGACTGTTTGCAGATATTTAAATTTTATGAAATTTCCAAAGATT
TTGGTTGATAACCCCCTTTTACCTTCTAAATGATTTGAGATGTTCTTATGTTCTTACTGTGTGT
TTTAAATATATATAAAAGAGCCACAAGCATTTAGTCTTTTAGTATTATATTTGATCATATAACT
ACTACTGAAAAGGGGTGGGGGGGAATGTGCCTGTGCACCCCTACAGTATCTTGTGTAGTGTCTA
TTAACATTGTTCTCTTTTAGAGGACCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001369578 ⟹ NP_001356507

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,588,192 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,791,244 (-)	NCBI

Sequence:

show sequence

GCGGATCTGTAGTGGCGGCGGCGGCGGCGGCGGCGGGGAGGCAGCAGGCGCGGGAGCGGGCGCA
GGAGCAGGCGGCGGCGGTGGCGGCGGCGGTTAGACATGAACGCCGCCTCGGCGCCGGCGGTGCA
CGGAGAGCCCCTTCTCGCGCGCGGGCGATGTTTTCACCTCCTGTGAGCAGTGGGAAAAATGGAC
CAACTTCTTTGGCAAGTGGACATTTTACTGGCTCAAATGTAGAAGACAGAAGTAGCTCAGGGTC
CTGGGGGAATGGAGGACATCCAAGCCCGTCCAGGAACTATGGAGATGGGACTCCCTATGACCAC
ATGACCAGCAGGGACCTTGGGTCACATGACAATCTCTCTCCACCTTTTGTCAATTCCAGAATAC
AAAGTAAAACAGAAAGGGGCTCATACTCATCTTATGGGAGAGAATCAAACTTACAGGGTTGCCA
CCAGAGTCTCCTTGGAGGTGACATGGATATGGGCAACCCAGGAACCCTTTCGCCCACCAAACCT
GGTTCCCAGTACTATCAGTATTCTAGCAATAATCCCCGAAGGAGGCCTCTTCACAGTAGTGCCA
TGGAGGTACAGACAAAGAAAGTTCGAAAAGTTCCTCCAGGTTTGCCATCTTCAGTCTATGCTCC
ATCAGCAAGCACTGCCGACTACAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACC
AGCACTTTCCCTAGCTCCTTCTTCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCT
CCAGTGGGATGAATCAGCCTGGCTATGCAGGAATGTTGGGCAACTCTTCTCATATTCCACAGTC
CAGCAGCTACTGTAGCCTGCATCCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGAC
ATCAATTCCAGTCTTCCTCCGATGTCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCT
CTTCCTGTACGCCTCCTGCCAACGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGC
CGGCAGCTCCCAGACTGGAGATGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCAC
ACTAACAACAGCTTTTCATCAAACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAGCAG
GCACAGCTGTTTGGTCTAGAAATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTT
ACACTCTTTGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTC
CGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCA
TTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTC
AGCCAACAGACATTCACTCATGGTGGGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGCAGC
CATTCTCTTCTGCCAAACCAGGTTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTG
ACCTGAACCCACCCCAGGACCCTTACAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGTCTC
CTCTGGCAGCTCTGAGATCAAATCCGATGACGAGGGTGATGAGAACCTGCAAGACACGAAATCT
TCGGAGGACAAGAAATTAGATGACGACAAGAAGGATATCAAATCAATTACTAGGTCAAGATCTA
GCAATAATGACGATGAGGACCTGACACCAGAGCAGAAGGCAGAGCGTGAGAAGGAGCGGAGGAT
GGCCAACAATGCCCGAGAGCGTCTGCGGGTCCGTGACATCAACGAGGCTTTCAAAGAGCTCGGC
CGCATGGTGCAGCTCCACCTCAAGAGTGACAAGCCCCAGACCAAGCTCCTGATCCTCCACCAGG
CGGTGGCCGTCATCCTCAGTCTGGAGCAGCAAGTCCGAGAAAGGAATCTGAATCCGAAAGCTGC
GTGTCTGAAAAGAAGGGAGGAAGAGAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTTGGCCGGC
CCACACCCTGGAATGGGAGACGCATCGAATCACATGGGACAGATGTAAAAGGGTCCAAGTTGCC
ACATTGCTTCATTAAAACAAGAGACCACTTCCTTAACAGCTGTATTATCTTAAACCCACATAAA
CACTTCTCCTTAACCCCCATTTTTGTAATATAAGACAAGTCTGAGTAGTTATGAATCGCAGACG
CAAGAGGTTTCAGCATTCCCAATTATCAAAAAACAGAAAAACAAAAAAAAGAAAGAAAAAAGTG
CAACTTGAGGGACGACTTTCTTTAACATATCATTCAGAATGTGCAAAGCAGTATGTACAGGCTG
AGACACAGCCCAGAGACTGAACGGCAATCTTTCCACACTGTGGAACAATGCATTTGTGCCTAAA
CTTCTTTTGGAAAAAAAAAATATAATTAATTTGTAAGTCTGAAAAAAAAATATTTAATTTAAAA
AAAATTGTAAACTTGCAATAATGAAAAAGTGTACTTCTGAAGAAAACTACATGAACGTTTTTGT
TGGTATTCAAGTCAGCTAGTGTTTATAATTACTGGATATTGAATTAGGGGAAGCTCGGCTGCCC
TAGTAACAAAACCAGCAAACGTCCTGATGACAACGAAGTGATGACATTAGCCATTCCTTAGGGT
AGGAGGAACAGATGGATCTTATAGACCTATGACAAATATATATATAAATATATATATAAATATA
TATTAAAAATTTAGTGACTATGGTAAGCTTTTGTTCATTTGTTTCAGACTTTTTTCTCCTGTAA
AAAAATAGTACTGATTAACTTTTTTAAAAGAAAGATTTTACTGTAAATATGGATTTTTTTTTTT
TTGGTCTTATTTCTGTCCCTTTCCCTGGTTTGTTATCGTAACCTGTAGTGCCAACTCTGCTTCC
AGAGGGGTAGTGCAGGATGAAATGCTGACCCTGATGTTGCTTCTCATTCATAAATAAGTAGAAA
GTTGTTTCTCCAGTCTTTTGGGAACACAGGACTTAAAAGTCACATCATGTGTAGATATTACAAG
CAGCATTACCAAGACATGGCAAAAAGAGTTTGTCTGAATTGTAATGTTGCGTTTGTGAACCTAT
TCTGGGATTTTCAGAGGTACAAGGTTAGAATGCTACAATGTTACCACTGTGCCTTCCAATGTTT
ATATCATCGGAAACATAACATAATCAAAGTGGCTGTGATTTAACAAAATGATTAAAGTGTTACC
TACCTGTGTAGCCGAAGTAGTGTGCAGTGAGGCGTTTCTGAATACATGGTCAGATTTTTGGAAA
AAAACAAAAACAAAAAAAACAAGTAAAGTTCAAAAACCGTCAAATGAGAAAATTGCAAGTAGTG
TGACAGAGCTGATTGATTTTGTTGCTTTCTTGATTTTTTTTTTCAAAATGGGTTTACTAAAATG
TAGATGACTTAACTGCCTCCTCCTTCGTCTGAAAAATGCCAATATTCAATCATCATGCAGCATT
ATAACAAGCCTTATAAGTCCTAAAGCATTAAGTTGCACTTTTTTGAGGAGGGGTAGTGCAGTAT
TTCTCTGGCCAGTATGAATGAAGTTTATACTTACCATATTTGATAGAAACATAGATCAAGCTAT
GGCACAGCGACTCATCAGATAGCTAGCTTTGACGTCTGGGCACAATTGAACCAACTTCCATCGT
GAATCTTTATAATGATTGACTTTGGTGTATAGTGCAGTAAACAAATAGTGCTCCTAGTTAAGTA
TTTGTCAGCATCCTTTTGTCTCTAACTTGTTTCTATTTTTACAGCCACACAATTCTTGGCATGT
ATTAAGAAAAAAAAAAATCCCTGTTCAAGTAGTTTTTCCACCTATCAGCACTGAGTAAATGCCA
TAAATCCATTGAAATGGTCTAAATGTTCCATCTGTTCTCCTGTTTTGCCAGTTATATAGTAATG
AAATACATTTGTAAATTTTATGCAACAAATGGCAAACGTATCATTATTTTGAAATTGTGTATGT
AAAAGTTATATTTTTACATGTAGACTCTTGTTATTATGTGTTTTAATACATTGTATCAGTTTTT
GTTTTTTTTTAAAAACTGTGGTTTAAAAAGAAGTCTCATTTAAATGAAATAGCTACAAGAATCA
GAATTTTATGTTCATTTCTGAAAATGTAAGAACAAATAAGATAGTTACCACGTGGTCATCTTTT
ACAAACCCATAAACATTTTGATTAGCTGTGTGTGTGTTGAAAAACTGTAAATATGTTCAGTAGC
GATAAAACTAAAATAACTTTGATTTGTTGATAAGTTCCTAAAATGTGGAGGTGGATTAAAACCT
TAGGAGAATAGCAGAAATCAAACTTCATGAAAAGTTATTTTGGGGCTTTCCTGTGAAATGTATG
AACAAAGAGGCTCAGAGAAGGACATGGAAGACAATAATGTATACTCTCTCCTCCTCCCTGAATA
ATGAAAACCATGTGTATTTGTTCCCTCCGTATGTTAAAGATTTCCTTTTAGTGGTACATTCTGC
ACTCATTTTGTATAGTCTACCAAGGCGGGTATCCCTAGGAACAATATTATATAGGAAGCAGGTA
TACTCTGATCACATTCAGGATAAGTGTACAGAAGAAAATACGGTGTTTACTCTTTAGGGAACTG
GAAACACTCCCTGCATTGATGTACATTTTAAGAATGGCACTTTTGATACATGTTATCATAAAGG
TGCTTAATAGAGCTGAATTAAAGTTTTTCAAATCTGTAAACAAAGCAAAAAAGTAAATTGTAGT
CATTTGATTATTTTTTAAATTGGTGCTTTATATTTTGTTCTCACTCAGAGTAAAAGCTGCAATT
TATTGTTCACCAGCTTTGATGTATTCATTACTCAGTAATGCAATACCTCTATTGTTGAATTCCC
TTTGGAAATAAGTGAAAATTCTAACGGCCACTGAAAGCTGCTCGCTAGGTTTTGCTTGGTGGAG
AAACATAATCTGCACCTATCCATATTAATTGGGTTGTATCCCCATTAAAAAAGAAAAAAAGGGA
ATGTGGCCTTTTTAGTGTGTTTTTTATTGTTGTTGTTTTGTAATTATCAAACCCAGGTAAGATA
TTGGTATCCTGCACTGGATTTTCAAATGAAGTTCAGCAGAAGACAGTTAAGATTAAAGTACTAT
ACAAAAATTTCAAAAGGGTCCATACTACGCTATCTGTATGACGACACTTAGGCTGGGGATCTCT
TTCAGAAACTCGGACTTTAAAAGCAACTTGGAGCAGTTGATCCACCTCCACATTCAAGTAATTT
ATGAATATGCAGAATAGGGATCTGTTCATCTAGAAATTTTTACCATTTGTCTTCTGTGTAGCTG
CAAGGAACACTAATGTTTATACAACTGTCAGTCCACCCAGTGGTGCAACTGGTTCTGATTCAGT
CTTCCGATTCCTTTTTATTTTTCACTTTTTCCTATTTCTGAATTTTTTTTTTTATTTGTGATCT
TGATTTTGATGAGGGGTTGGGGAGTGGGGAGGGAGTCGAACCAAGACTTGGAGTTAAGAGGATT
TTCATCTTTTGCATCCAACAGGCAGAATATGATCTGTGTCCAAAAGTGAACTTGAGTCAGGAAT
GAATCAATTTCAGCATAAACAAGCACAAAAATTTAGTCTGCTGGCTGACTGGAAGCAAAAAAGT
CAAGATGGAATATGATGAATTCCAACACAATGGGGCACCAAGGCCTTTAGGCCTCTCTTTTTAT
TTTGCTTTGGTTTTGTTTGTTTTTCTTTAGAGACATGCTCTTTCTCATGGGACTTGAAGTGGAC
TCATCTTTGTGCAGTGCTGGTTTTGCCATACTCATTTCAAGTATTATAGACATATGTAATGGTG
AAAATATATGAACTGTGGCCTTTTTCATTCTTGTTACTTGTGATGCAATTAAGTGAAGATAAGA
AAAAAAAAAAAAAAGCAGAGATTTACCATGTATCAGTGCCTGGCTTTTTGTTATAAAGCTTTGT
TTGTCTAGTGCTCTTTTGCTATAAAATAGACTGTAGTACACCCTAGTAGGAAAAAAAAAAAACT
AAATTTAAAAATAAAAAATATATTTGGCTTATTTTTCGCAGGAGCAATCCTTTTATACCATGAA
TATTACAAAAAAATTGTCAGATTCTGAATATTTCTTCTTTGTAGATTTTTGGAATCATTATGAG
TAAAAGTTTGTTACTTTATTTTACTATTTAAAAGATGTTATTTTACCATGTGTTACCAAGATGA
AACTGTATGGGTAGCTTTTTTGTTTGTTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTAGT
TGTAGGTCGCAGCGGGGAAATTTTTTGCGACTGTACACATAGCTGCAGCATTAAAAACTTAAAA
AAATTGTTAAAAAAAAAAAAAGGGAAAACATTTCAAAAAAAAAAAAAAAGATAAACAGTTACAC
CTTGTTTTCAATGTGTGGCTGAGTGCCTCGATTTTTTCATGTTTTTGGTGTATTTCTGATTTGT
AGAAGTGTCCAAACAGGTTGTGTGCTGGAGTTCCTTCAAGACAAAAACAAACCCAGCTTGGTCA
AGGCCATTACCTGTTTCCCATCTGTAGTTATTCGATGAAGTCATGTACATGACCGTTCTGTAGC
AATAAATGTGCCATTTTTATAAACTGTTTCTGACACTTGTTTCATTTCATTTTGCATTGTCCAT
ATAGCTATGATTCTCTTCTGTAAGTAAAACGCATCTATATTTCATTTTCCAAGTGTTGGAGGTA
TTGACAGCTTAACAAACAAAACATACAAAAAAAATCACAAAAACAAATTGAAAAGCAAAGCACA
TGATTGATCAAGGAAGAGATGCCCTTAATGAAAATGGAACGGGATGCATGCAAAACAAAAAGAA
AACTGTCTAGAGGATTAACTAATTGAAGGAATATAATTAATGTGTGTGTAACACTGAAGCTATG
CATTTGAAGAGCTCTGAACTGCACCAGTGTTTTCGGTTGTGCTGCAGGTTGCTAAGTCAAGTCA
GCCTTAACCTTTTGCACCAGTTGGTCGGCTGTTTGGCAGAACATTCTCAGATCTTTTCAGTCAA
AAATCTAAGATGATTTATTTTGTATCACTTTGTTAAAAGCTGAATATTGTTAACTACAGTTAAT
ATTAACACTGTATTTATACTTTCTCAAACTACATCCGCCCCACCACTTCTGGTTGCCTCTGTTG
ACTATTAATCCAGATGTAAACAACCAGATGTTTTTTTCTAACTTGTACAAACTGACGTGTGTCA
ACTATCATGGAAGGAAAAAAATGTACAGATTAAAATTATTCAGTGTTATGTACTGTAAGTTAAT
ATTTTTGTAGAATGGACATCAATCTACTTTGCAAAATTTGGAGGCTATTTCAACATTGCACTGT
AGAAATGTAAAGTAATGTATGCAATGTAAAGGAAAGCCCGCGGTAGCTGAGCGCTTCATAACAG
AATGTTCTAATCAAGTACGTGGTATTTGGGGATGTCTCCAATATTGCTCTTGTATTCTTTCTAA
TTGGGTTTAGTGACTAGTTGAAGGAAAATGTTATAACGCCATTTGGTTCACATGTGAAGTGCCC
TCCATAGCCAAATGTTGGGATTTTTTTTTTTTTCGTTTTTGGTTGGACTGTTTGCAGATATTTA
AATTTTATGAAATTTCCAAAGATTTTGGTTGATAACCCCCTTTTACCTTCTAAATGATTTGAGA
TGTTCTTATGTTCTTACTGTGTGTTTTAAATATATATAAAAGAGCCACAAGCATTTAGTCTTTT
AGTATTATATTTGATCATATAACTACTACTGAAAAGGGGTGGGGGGGAATGTGCCTGTGCACCC
CTACAGTATCTTGTGTAGTGTCTATTAACATTGTTCTCTTTTAGAGGACCACATTAAAAGGTAC
ATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001369579 ⟹ NP_001356508

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,588,192 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,791,244 (-)	NCBI

Sequence:

show sequence

GCGGATCTGTAGTGGCGGCGGCGGCGGCGGCGGCGGGGAGGCAGCAGGCGCGGGAGCGGGCGCA
GGAGCAGGCGGCGGCGGTGGCGGCGGCGGTTAGACATGAACGCCGCCTCGGCGCCGGCGGTGCA
CGGAGAGCCCCTTCTCGCGCGCGGGCGATGTTTTCACCTCCTGTGAGCAGTGGGAAAAATGGAC
CAACTTCTTTGGCAAGTGGACATTTTACTGGCTCAAATGTAGAAGACAGAAGTAGCTCAGGGTC
CTGGGGGAATGGAGGACATCCAAGCCCGTCCAGGAACTATGGAGATGGGACTCCCTATGACCAC
ATGACCAGCAGGGACCTTGGGTCACATGACAATCTCTCTCCACCTTTTGTCAATTCCAGAATAC
AAAGTAAAACAGAAAGGGGCTCATACTCATCTTATGGGAGAGAATCAAACTTACAGGGTTGCCA
CCAGCAGAGTCTCCTTGGAGGTGACATGGATATGGGCAACCCAGGAACCCTTTCGCCCACCAAA
CCTGGTTCCCAGTACTATCAGTATTCTAGCAATAATCCCCGAAGGAGGCCTCTTCACAGTAGTG
CCATGGAGGTACAGACAAAGAAAGTTCGAAAAGTTCCTCCAGGTTTGCCATCTTCAGTCTATGC
TCCATCAGCAAGCACTGCCGACTACAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCA
ACCAGCACTTTCCCTAGCTCCTTCTTCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCT
CCTCCAGTGGGATGAATCAGCCTGGCTATGCAGGAATGTTGGGCAACTCTTCTCATATTCCACA
GTCCAGCAGCTACTGTAGCCTGCATCCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCA
GACATCAATTCCAGTCTTCCTCCGATGTCCACTTTCCATCGTAGTGGTACAAACCATTACAGCA
CCTCTTCCTGTACGCCTCCTGCCAACGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGC
AGCCGGCAGCTCCCAGACTGGAGATGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGAT
CACACTAACAACAGCTTTTCATCAAACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAG
GCACAGCTGTTTGGTCTAGAAATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTT
ACACTCTTTGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTC
CGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCA
TTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTC
AGCCAACAGACATTCACTCATGGTGGGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGCAGC
CATTCTCTTCTGCCAAACCAGGTTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTG
ACCTGAACCCACCCCAGGACCCTTACAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGTCTC
CTCTGGCAGCTCTGAGATCAAATCCGATGACGAGGGTGATGAGAACCTGCAAGACACGAAATCT
TCGGAGGACAAGAAATTAGATGACGACAAGAAGGATATCAAATCAATTACTAGGTCAAGATCTA
GCAATAATGACGATGAGGACCTGACACCAGAGCAGAAGGCAGAGCGTGAGAAGGAGCGGAGGAT
GGCCAACAATGCCCGAGAGCGTCTGCGGGTCCGTGACATCAACGAGGCTTTCAAAGAGCTCGGC
CGCATGGTGCAGCTCCACCTCAAGAGTGACAAGCCCCAGACCAAGCTCCTGATCCTCCACCAGG
CGGTGGCCGTCATCCTCAGTCTGGAGCAGCAAGTCCGAGAAAGGAATCTGAATCCGAAAGCTGC
GTGTCTGAAAAGAAGGGAGGAAGAGAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTTGGCCGGC
CCACACCCTGGAATGGGAGACGCATCGAATCACATGGGACAGATGTAAAAGGGTCCAAGTTGCC
ACATTGCTTCATTAAAACAAGAGACCACTTCCTTAACAGCTGTATTATCTTAAACCCACATAAA
CACTTCTCCTTAACCCCCATTTTTGTAATATAAGACAAGTCTGAGTAGTTATGAATCGCAGACG
CAAGAGGTTTCAGCATTCCCAATTATCAAAAAACAGAAAAACAAAAAAAAGAAAGAAAAAAGTG
CAACTTGAGGGACGACTTTCTTTAACATATCATTCAGAATGTGCAAAGCAGTATGTACAGGCTG
AGACACAGCCCAGAGACTGAACGGCAATCTTTCCACACTGTGGAACAATGCATTTGTGCCTAAA
CTTCTTTTGGAAAAAAAAAATATAATTAATTTGTAAGTCTGAAAAAAAAATATTTAATTTAAAA
AAAATTGTAAACTTGCAATAATGAAAAAGTGTACTTCTGAAGAAAACTACATGAACGTTTTTGT
TGGTATTCAAGTCAGCTAGTGTTTATAATTACTGGATATTGAATTAGGGGAAGCTCGGCTGCCC
TAGTAACAAAACCAGCAAACGTCCTGATGACAACGAAGTGATGACATTAGCCATTCCTTAGGGT
AGGAGGAACAGATGGATCTTATAGACCTATGACAAATATATATATAAATATATATATAAATATA
TATTAAAAATTTAGTGACTATGGTAAGCTTTTGTTCATTTGTTTCAGACTTTTTTCTCCTGTAA
AAAAATAGTACTGATTAACTTTTTTAAAAGAAAGATTTTACTGTAAATATGGATTTTTTTTTTT
TTGGTCTTATTTCTGTCCCTTTCCCTGGTTTGTTATCGTAACCTGTAGTGCCAACTCTGCTTCC
AGAGGGGTAGTGCAGGATGAAATGCTGACCCTGATGTTGCTTCTCATTCATAAATAAGTAGAAA
GTTGTTTCTCCAGTCTTTTGGGAACACAGGACTTAAAAGTCACATCATGTGTAGATATTACAAG
CAGCATTACCAAGACATGGCAAAAAGAGTTTGTCTGAATTGTAATGTTGCGTTTGTGAACCTAT
TCTGGGATTTTCAGAGGTACAAGGTTAGAATGCTACAATGTTACCACTGTGCCTTCCAATGTTT
ATATCATCGGAAACATAACATAATCAAAGTGGCTGTGATTTAACAAAATGATTAAAGTGTTACC
TACCTGTGTAGCCGAAGTAGTGTGCAGTGAGGCGTTTCTGAATACATGGTCAGATTTTTGGAAA
AAAACAAAAACAAAAAAAACAAGTAAAGTTCAAAAACCGTCAAATGAGAAAATTGCAAGTAGTG
TGACAGAGCTGATTGATTTTGTTGCTTTCTTGATTTTTTTTTTCAAAATGGGTTTACTAAAATG
TAGATGACTTAACTGCCTCCTCCTTCGTCTGAAAAATGCCAATATTCAATCATCATGCAGCATT
ATAACAAGCCTTATAAGTCCTAAAGCATTAAGTTGCACTTTTTTGAGGAGGGGTAGTGCAGTAT
TTCTCTGGCCAGTATGAATGAAGTTTATACTTACCATATTTGATAGAAACATAGATCAAGCTAT
GGCACAGCGACTCATCAGATAGCTAGCTTTGACGTCTGGGCACAATTGAACCAACTTCCATCGT
GAATCTTTATAATGATTGACTTTGGTGTATAGTGCAGTAAACAAATAGTGCTCCTAGTTAAGTA
TTTGTCAGCATCCTTTTGTCTCTAACTTGTTTCTATTTTTACAGCCACACAATTCTTGGCATGT
ATTAAGAAAAAAAAAAATCCCTGTTCAAGTAGTTTTTCCACCTATCAGCACTGAGTAAATGCCA
TAAATCCATTGAAATGGTCTAAATGTTCCATCTGTTCTCCTGTTTTGCCAGTTATATAGTAATG
AAATACATTTGTAAATTTTATGCAACAAATGGCAAACGTATCATTATTTTGAAATTGTGTATGT
AAAAGTTATATTTTTACATGTAGACTCTTGTTATTATGTGTTTTAATACATTGTATCAGTTTTT
GTTTTTTTTTAAAAACTGTGGTTTAAAAAGAAGTCTCATTTAAATGAAATAGCTACAAGAATCA
GAATTTTATGTTCATTTCTGAAAATGTAAGAACAAATAAGATAGTTACCACGTGGTCATCTTTT
ACAAACCCATAAACATTTTGATTAGCTGTGTGTGTGTTGAAAAACTGTAAATATGTTCAGTAGC
GATAAAACTAAAATAACTTTGATTTGTTGATAAGTTCCTAAAATGTGGAGGTGGATTAAAACCT
TAGGAGAATAGCAGAAATCAAACTTCATGAAAAGTTATTTTGGGGCTTTCCTGTGAAATGTATG
AACAAAGAGGCTCAGAGAAGGACATGGAAGACAATAATGTATACTCTCTCCTCCTCCCTGAATA
ATGAAAACCATGTGTATTTGTTCCCTCCGTATGTTAAAGATTTCCTTTTAGTGGTACATTCTGC
ACTCATTTTGTATAGTCTACCAAGGCGGGTATCCCTAGGAACAATATTATATAGGAAGCAGGTA
TACTCTGATCACATTCAGGATAAGTGTACAGAAGAAAATACGGTGTTTACTCTTTAGGGAACTG
GAAACACTCCCTGCATTGATGTACATTTTAAGAATGGCACTTTTGATACATGTTATCATAAAGG
TGCTTAATAGAGCTGAATTAAAGTTTTTCAAATCTGTAAACAAAGCAAAAAAGTAAATTGTAGT
CATTTGATTATTTTTTAAATTGGTGCTTTATATTTTGTTCTCACTCAGAGTAAAAGCTGCAATT
TATTGTTCACCAGCTTTGATGTATTCATTACTCAGTAATGCAATACCTCTATTGTTGAATTCCC
TTTGGAAATAAGTGAAAATTCTAACGGCCACTGAAAGCTGCTCGCTAGGTTTTGCTTGGTGGAG
AAACATAATCTGCACCTATCCATATTAATTGGGTTGTATCCCCATTAAAAAAGAAAAAAAGGGA
ATGTGGCCTTTTTAGTGTGTTTTTTATTGTTGTTGTTTTGTAATTATCAAACCCAGGTAAGATA
TTGGTATCCTGCACTGGATTTTCAAATGAAGTTCAGCAGAAGACAGTTAAGATTAAAGTACTAT
ACAAAAATTTCAAAAGGGTCCATACTACGCTATCTGTATGACGACACTTAGGCTGGGGATCTCT
TTCAGAAACTCGGACTTTAAAAGCAACTTGGAGCAGTTGATCCACCTCCACATTCAAGTAATTT
ATGAATATGCAGAATAGGGATCTGTTCATCTAGAAATTTTTACCATTTGTCTTCTGTGTAGCTG
CAAGGAACACTAATGTTTATACAACTGTCAGTCCACCCAGTGGTGCAACTGGTTCTGATTCAGT
CTTCCGATTCCTTTTTATTTTTCACTTTTTCCTATTTCTGAATTTTTTTTTTTATTTGTGATCT
TGATTTTGATGAGGGGTTGGGGAGTGGGGAGGGAGTCGAACCAAGACTTGGAGTTAAGAGGATT
TTCATCTTTTGCATCCAACAGGCAGAATATGATCTGTGTCCAAAAGTGAACTTGAGTCAGGAAT
GAATCAATTTCAGCATAAACAAGCACAAAAATTTAGTCTGCTGGCTGACTGGAAGCAAAAAAGT
CAAGATGGAATATGATGAATTCCAACACAATGGGGCACCAAGGCCTTTAGGCCTCTCTTTTTAT
TTTGCTTTGGTTTTGTTTGTTTTTCTTTAGAGACATGCTCTTTCTCATGGGACTTGAAGTGGAC
TCATCTTTGTGCAGTGCTGGTTTTGCCATACTCATTTCAAGTATTATAGACATATGTAATGGTG
AAAATATATGAACTGTGGCCTTTTTCATTCTTGTTACTTGTGATGCAATTAAGTGAAGATAAGA
AAAAAAAAAAAAAAGCAGAGATTTACCATGTATCAGTGCCTGGCTTTTTGTTATAAAGCTTTGT
TTGTCTAGTGCTCTTTTGCTATAAAATAGACTGTAGTACACCCTAGTAGGAAAAAAAAAAAACT
AAATTTAAAAATAAAAAATATATTTGGCTTATTTTTCGCAGGAGCAATCCTTTTATACCATGAA
TATTACAAAAAAATTGTCAGATTCTGAATATTTCTTCTTTGTAGATTTTTGGAATCATTATGAG
TAAAAGTTTGTTACTTTATTTTACTATTTAAAAGATGTTATTTTACCATGTGTTACCAAGATGA
AACTGTATGGGTAGCTTTTTTGTTTGTTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTAGT
TGTAGGTCGCAGCGGGGAAATTTTTTGCGACTGTACACATAGCTGCAGCATTAAAAACTTAAAA
AAATTGTTAAAAAAAAAAAAAGGGAAAACATTTCAAAAAAAAAAAAAAAGATAAACAGTTACAC
CTTGTTTTCAATGTGTGGCTGAGTGCCTCGATTTTTTCATGTTTTTGGTGTATTTCTGATTTGT
AGAAGTGTCCAAACAGGTTGTGTGCTGGAGTTCCTTCAAGACAAAAACAAACCCAGCTTGGTCA
AGGCCATTACCTGTTTCCCATCTGTAGTTATTCGATGAAGTCATGTACATGACCGTTCTGTAGC
AATAAATGTGCCATTTTTATAAACTGTTTCTGACACTTGTTTCATTTCATTTTGCATTGTCCAT
ATAGCTATGATTCTCTTCTGTAAGTAAAACGCATCTATATTTCATTTTCCAAGTGTTGGAGGTA
TTGACAGCTTAACAAACAAAACATACAAAAAAAATCACAAAAACAAATTGAAAAGCAAAGCACA
TGATTGATCAAGGAAGAGATGCCCTTAATGAAAATGGAACGGGATGCATGCAAAACAAAAAGAA
AACTGTCTAGAGGATTAACTAATTGAAGGAATATAATTAATGTGTGTGTAACACTGAAGCTATG
CATTTGAAGAGCTCTGAACTGCACCAGTGTTTTCGGTTGTGCTGCAGGTTGCTAAGTCAAGTCA
GCCTTAACCTTTTGCACCAGTTGGTCGGCTGTTTGGCAGAACATTCTCAGATCTTTTCAGTCAA
AAATCTAAGATGATTTATTTTGTATCACTTTGTTAAAAGCTGAATATTGTTAACTACAGTTAAT
ATTAACACTGTATTTATACTTTCTCAAACTACATCCGCCCCACCACTTCTGGTTGCCTCTGTTG
ACTATTAATCCAGATGTAAACAACCAGATGTTTTTTTCTAACTTGTACAAACTGACGTGTGTCA
ACTATCATGGAAGGAAAAAAATGTACAGATTAAAATTATTCAGTGTTATGTACTGTAAGTTAAT
ATTTTTGTAGAATGGACATCAATCTACTTTGCAAAATTTGGAGGCTATTTCAACATTGCACTGT
AGAAATGTAAAGTAATGTATGCAATGTAAAGGAAAGCCCGCGGTAGCTGAGCGCTTCATAACAG
AATGTTCTAATCAAGTACGTGGTATTTGGGGATGTCTCCAATATTGCTCTTGTATTCTTTCTAA
TTGGGTTTAGTGACTAGTTGAAGGAAAATGTTATAACGCCATTTGGTTCACATGTGAAGTGCCC
TCCATAGCCAAATGTTGGGATTTTTTTTTTTTTCGTTTTTGGTTGGACTGTTTGCAGATATTTA
AATTTTATGAAATTTCCAAAGATTTTGGTTGATAACCCCCTTTTACCTTCTAAATGATTTGAGA
TGTTCTTATGTTCTTACTGTGTGTTTTAAATATATATAAAAGAGCCACAAGCATTTAGTCTTTT
AGTATTATATTTGATCATATAACTACTACTGAAAAGGGGTGGGGGGGAATGTGCCTGTGCACCC
CTACAGTATCTTGTGTAGTGTCTATTAACATTGTTCTCTTTTAGAGGACCACATTAAAAGGTAC
ATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001369580 ⟹ NP_001356509

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,586,122 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,789,202 (-)	NCBI

Sequence:

show sequence

CTCCTCTTCTAGACCTTCTTTTGGAGAAATGGCTTTCGGAAGTTTTGCCAGGAAACGTAGCCCT
AGGCAGGCAGCTTTGCAGCCCCCTTTCTGCTTGTTGCACTTTCTCCATTCGTTCCTTTGCTTTT
TGCAGGCTCTGACTCAGGGAAGATGTTTTCACCTCCTGTGAGCAGTGGGAAAAATGGACCAACT
TCTTTGGCAAGTGGACATTTTACTGGCTCAAATGTAGAAGACAGAAGTAGCTCAGGGTCCTGGG
GGAATGGAGGACATCCAAGCCCGTCCAGGAACTATGGAGATGGGACTCCCTATGACCACATGAC
CAGCAGGGACCTTGGGTCACATGACAATCTCTCTCCACCTTTTGTCAATTCCAGAATACAAAGT
AAAACAGAAAGGGGCTCATACTCATCTTATGGGAGAGAATCAAACTTACAGGGTTGCCACCAGC
AGAGTCTCCTTGGAGGTGACATGGATATGGGCAACCCAGGAACCCTTTCGCCCACCAAACCTGG
TTCCCAGTACTATCAGTATTCTAGCAATAATCCCCGAAGGAGGCCTCTTCACAGTAGTGCCATG
GAGGTACAGACAAAGAAAGTTCGAAAAGTTCCTCCAGGTTTGCCATCTTCAGTCTATGCTCCAT
CAGCAAGCACTGCCGACTACAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACCAG
CACTTTCCCTAGCTCCTTCTTCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCTCC
AGTGGGATGAATCAGCCTGGCTATGCAGGAATGTTGGGCAACTCTTCTCATATTCCACAGTCCA
GCAGCTACTGTAGCCTGCATCCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGACAT
CAATTCCAGTCTTCCTCCGATGTCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCTCT
TCCTGTACGCCTCCTGCCAACGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGCCG
GCAGCTCCCAGACTGGAGATGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCACAC
TAACAACAGCTTTTCATCAAACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAGGCACA
GCTGTTTGGTCTAGAAATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTTACACT
CTTTGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAA
CCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGA
CCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCA
ACAGACATTCACTCATGGTGGGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGCAGCCATTC
TCTTCTGCCAAACCAGGTTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTG
AACCCACCCCAGGACCCTTACAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGTCTCCTCTG
GCAGCTCTGAGATCAAATCCGATGACGAGGGTGATGAGAACCTGCAAGACACGAAATCTTCGGA
GGACAAGAAATTAGATGACGACAAGAAGGATATCAAATCAATTACTAGGTCAAGATCTAGCAAT
AATGACGATGAGGACCTGACACCAGAGCAGAAGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCA
ACAATGCCCGAGAGCGTCTGCGGGTCCGTGACATCAACGAGGCTTTCAAAGAGCTCGGCCGCAT
GGTGCAGCTCCACCTCAAGAGTGACAAGCCCCAGACCAAGCTCCTGATCCTCCACCAGGCGGTG
GCCGTCATCCTCAGTCTGGAGCAGCAAGTCCGAGAAAGGAATCTGAATCCGAAAGCTGCGTGTC
TGAAAAGAAGGGAGGAAGAGAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACA
CCCTGGAATGGGAGACGCATCGAATCACATGGGACAGATGTAAAAGGGTCCAAGTTGCCACATT
GCTTCATTAAAACAAGAGACCACTTCCTTAACAGCTGTATTATCTTAAACCCACATAAACACTT
CTCCTTAACCCCCATTTTTGTAATATAAGACAAGTCTGAGTAGTTATGAATCGCAGACGCAAGA
GGTTTCAGCATTCCCAATTATCAAAAAACAGAAAAACAAAAAAAAGAAAGAAAAAAGTGCAACT
TGAGGGACGACTTTCTTTAACATATCATTCAGAATGTGCAAAGCAGTATGTACAGGCTGAGACA
CAGCCCAGAGACTGAACGGCAATCTTTCCACACTGTGGAACAATGCATTTGTGCCTAAACTTCT
TTTGGAAAAAAAAAATATAATTAATTTGTAAGTCTGAAAAAAAAATATTTAATTTAAAAAAAAT
TGTAAACTTGCAATAATGAAAAAGTGTACTTCTGAAGAAAACTACATGAACGTTTTTGTTGGTA
TTCAAGTCAGCTAGTGTTTATAATTACTGGATATTGAATTAGGGGAAGCTCGGCTGCCCTAGTA
ACAAAACCAGCAAACGTCCTGATGACAACGAAGTGATGACATTAGCCATTCCTTAGGGTAGGAG
GAACAGATGGATCTTATAGACCTATGACAAATATATATATAAATATATATATAAATATATATTA
AAAATTTAGTGACTATGGTAAGCTTTTGTTCATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAA
TAGTACTGATTAACTTTTTTAAAAGAAAGATTTTACTGTAAATATGGATTTTTTTTTTTTTGGT
CTTATTTCTGTCCCTTTCCCTGGTTTGTTATCGTAACCTGTAGTGCCAACTCTGCTTCCAGAGG
GGTAGTGCAGGATGAAATGCTGACCCTGATGTTGCTTCTCATTCATAAATAAGTAGAAAGTTGT
TTCTCCAGTCTTTTGGGAACACAGGACTTAAAAGTCACATCATGTGTAGATATTACAAGCAGCA
TTACCAAGACATGGCAAAAAGAGTTTGTCTGAATTGTAATGTTGCGTTTGTGAACCTATTCTGG
GATTTTCAGAGGTACAAGGTTAGAATGCTACAATGTTACCACTGTGCCTTCCAATGTTTATATC
ATCGGAAACATAACATAATCAAAGTGGCTGTGATTTAACAAAATGATTAAAGTGTTACCTACCT
GTGTAGCCGAAGTAGTGTGCAGTGAGGCGTTTCTGAATACATGGTCAGATTTTTGGAAAAAAAC
AAAAACAAAAAAAACAAGTAAAGTTCAAAAACCGTCAAATGAGAAAATTGCAAGTAGTGTGACA
GAGCTGATTGATTTTGTTGCTTTCTTGATTTTTTTTTTCAAAATGGGTTTACTAAAATGTAGAT
GACTTAACTGCCTCCTCCTTCGTCTGAAAAATGCCAATATTCAATCATCATGCAGCATTATAAC
AAGCCTTATAAGTCCTAAAGCATTAAGTTGCACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTC
TGGCCAGTATGAATGAAGTTTATACTTACCATATTTGATAGAAACATAGATCAAGCTATGGCAC
AGCGACTCATCAGATAGCTAGCTTTGACGTCTGGGCACAATTGAACCAACTTCCATCGTGAATC
TTTATAATGATTGACTTTGGTGTATAGTGCAGTAAACAAATAGTGCTCCTAGTTAAGTATTTGT
CAGCATCCTTTTGTCTCTAACTTGTTTCTATTTTTACAGCCACACAATTCTTGGCATGTATTAA
GAAAAAAAAAAATCCCTGTTCAAGTAGTTTTTCCACCTATCAGCACTGAGTAAATGCCATAAAT
CCATTGAAATGGTCTAAATGTTCCATCTGTTCTCCTGTTTTGCCAGTTATATAGTAATGAAATA
CATTTGTAAATTTTATGCAACAAATGGCAAACGTATCATTATTTTGAAATTGTGTATGTAAAAG
TTATATTTTTACATGTAGACTCTTGTTATTATGTGTTTTAATACATTGTATCAGTTTTTGTTTT
TTTTTAAAAACTGTGGTTTAAAAAGAAGTCTCATTTAAATGAAATAGCTACAAGAATCAGAATT
TTATGTTCATTTCTGAAAATGTAAGAACAAATAAGATAGTTACCACGTGGTCATCTTTTACAAA
CCCATAAACATTTTGATTAGCTGTGTGTGTGTTGAAAAACTGTAAATATGTTCAGTAGCGATAA
AACTAAAATAACTTTGATTTGTTGATAAGTTCCTAAAATGTGGAGGTGGATTAAAACCTTAGGA
GAATAGCAGAAATCAAACTTCATGAAAAGTTATTTTGGGGCTTTCCTGTGAAATGTATGAACAA
AGAGGCTCAGAGAAGGACATGGAAGACAATAATGTATACTCTCTCCTCCTCCCTGAATAATGAA
AACCATGTGTATTTGTTCCCTCCGTATGTTAAAGATTTCCTTTTAGTGGTACATTCTGCACTCA
TTTTGTATAGTCTACCAAGGCGGGTATCCCTAGGAACAATATTATATAGGAAGCAGGTATACTC
TGATCACATTCAGGATAAGTGTACAGAAGAAAATACGGTGTTTACTCTTTAGGGAACTGGAAAC
ACTCCCTGCATTGATGTACATTTTAAGAATGGCACTTTTGATACATGTTATCATAAAGGTGCTT
AATAGAGCTGAATTAAAGTTTTTCAAATCTGTAAACAAAGCAAAAAAGTAAATTGTAGTCATTT
GATTATTTTTTAAATTGGTGCTTTATATTTTGTTCTCACTCAGAGTAAAAGCTGCAATTTATTG
TTCACCAGCTTTGATGTATTCATTACTCAGTAATGCAATACCTCTATTGTTGAATTCCCTTTGG
AAATAAGTGAAAATTCTAACGGCCACTGAAAGCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACA
TAATCTGCACCTATCCATATTAATTGGGTTGTATCCCCATTAAAAAAGAAAAAAAGGGAATGTG
GCCTTTTTAGTGTGTTTTTTATTGTTGTTGTTTTGTAATTATCAAACCCAGGTAAGATATTGGT
ATCCTGCACTGGATTTTCAAATGAAGTTCAGCAGAAGACAGTTAAGATTAAAGTACTATACAAA
AATTTCAAAAGGGTCCATACTACGCTATCTGTATGACGACACTTAGGCTGGGGATCTCTTTCAG
AAACTCGGACTTTAAAAGCAACTTGGAGCAGTTGATCCACCTCCACATTCAAGTAATTTATGAA
TATGCAGAATAGGGATCTGTTCATCTAGAAATTTTTACCATTTGTCTTCTGTGTAGCTGCAAGG
AACACTAATGTTTATACAACTGTCAGTCCACCCAGTGGTGCAACTGGTTCTGATTCAGTCTTCC
GATTCCTTTTTATTTTTCACTTTTTCCTATTTCTGAATTTTTTTTTTTATTTGTGATCTTGATT
TTGATGAGGGGTTGGGGAGTGGGGAGGGAGTCGAACCAAGACTTGGAGTTAAGAGGATTTTCAT
CTTTTGCATCCAACAGGCAGAATATGATCTGTGTCCAAAAGTGAACTTGAGTCAGGAATGAATC
AATTTCAGCATAAACAAGCACAAAAATTTAGTCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGA
TGGAATATGATGAATTCCAACACAATGGGGCACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGC
TTTGGTTTTGTTTGTTTTTCTTTAGAGACATGCTCTTTCTCATGGGACTTGAAGTGGACTCATC
TTTGTGCAGTGCTGGTTTTGCCATACTCATTTCAAGTATTATAGACATATGTAATGGTGAAAAT
ATATGAACTGTGGCCTTTTTCATTCTTGTTACTTGTGATGCAATTAAGTGAAGATAAGAAAAAA
AAAAAAAAAGCAGAGATTTACCATGTATCAGTGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTC
TAGTGCTCTTTTGCTATAAAATAGACTGTAGTACACCCTAGTAGGAAAAAAAAAAAACTAAATT
TAAAAATAAAAAATATATTTGGCTTATTTTTCGCAGGAGCAATCCTTTTATACCATGAATATTA
CAAAAAAATTGTCAGATTCTGAATATTTCTTCTTTGTAGATTTTTGGAATCATTATGAGTAAAA
GTTTGTTACTTTATTTTACTATTTAAAAGATGTTATTTTACCATGTGTTACCAAGATGAAACTG
TATGGGTAGCTTTTTTGTTTGTTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAG
GTCGCAGCGGGGAAATTTTTTGCGACTGTACACATAGCTGCAGCATTAAAAACTTAAAAAAATT
GTTAAAAAAAAAAAAAGGGAAAACATTTCAAAAAAAAAAAAAAAGATAAACAGTTACACCTTGT
TTTCAATGTGTGGCTGAGTGCCTCGATTTTTTCATGTTTTTGGTGTATTTCTGATTTGTAGAAG
TGTCCAAACAGGTTGTGTGCTGGAGTTCCTTCAAGACAAAAACAAACCCAGCTTGGTCAAGGCC
ATTACCTGTTTCCCATCTGTAGTTATTCGATGAAGTCATGTACATGACCGTTCTGTAGCAATAA
ATGTGCCATTTTTATAAACTGTTTCTGACACTTGTTTCATTTCATTTTGCATTGTCCATATAGC
TATGATTCTCTTCTGTAAGTAAAACGCATCTATATTTCATTTTCCAAGTGTTGGAGGTATTGAC
AGCTTAACAAACAAAACATACAAAAAAAATCACAAAAACAAATTGAAAAGCAAAGCACATGATT
GATCAAGGAAGAGATGCCCTTAATGAAAATGGAACGGGATGCATGCAAAACAAAAAGAAAACTG
TCTAGAGGATTAACTAATTGAAGGAATATAATTAATGTGTGTGTAACACTGAAGCTATGCATTT
GAAGAGCTCTGAACTGCACCAGTGTTTTCGGTTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTT
AACCTTTTGCACCAGTTGGTCGGCTGTTTGGCAGAACATTCTCAGATCTTTTCAGTCAAAAATC
TAAGATGATTTATTTTGTATCACTTTGTTAAAAGCTGAATATTGTTAACTACAGTTAATATTAA
CACTGTATTTATACTTTCTCAAACTACATCCGCCCCACCACTTCTGGTTGCCTCTGTTGACTAT
TAATCCAGATGTAAACAACCAGATGTTTTTTTCTAACTTGTACAAACTGACGTGTGTCAACTAT
CATGGAAGGAAAAAAATGTACAGATTAAAATTATTCAGTGTTATGTACTGTAAGTTAATATTTT
TGTAGAATGGACATCAATCTACTTTGCAAAATTTGGAGGCTATTTCAACATTGCACTGTAGAAA
TGTAAAGTAATGTATGCAATGTAAAGGAAAGCCCGCGGTAGCTGAGCGCTTCATAACAGAATGT
TCTAATCAAGTACGTGGTATTTGGGGATGTCTCCAATATTGCTCTTGTATTCTTTCTAATTGGG
TTTAGTGACTAGTTGAAGGAAAATGTTATAACGCCATTTGGTTCACATGTGAAGTGCCCTCCAT
AGCCAAATGTTGGGATTTTTTTTTTTTTCGTTTTTGGTTGGACTGTTTGCAGATATTTAAATTT
TATGAAATTTCCAAAGATTTTGGTTGATAACCCCCTTTTACCTTCTAAATGATTTGAGATGTTC
TTATGTTCTTACTGTGTGTTTTAAATATATATAAAAGAGCCACAAGCATTTAGTCTTTTAGTAT
TATATTTGATCATATAACTACTACTGAAAAGGGGTGGGGGGGAATGTGCCTGTGCACCCCTACA
GTATCTTGTGTAGTGTCTATTAACATTGTTCTCTTTTAGAGGACCACATTAAAAGGTACATTAA
TCTTA

hide sequence

RefSeq Acc Id:

NM_001369581 ⟹ NP_001356510

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,586,122 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,789,202 (-)	NCBI

Sequence:

show sequence

CTCCTCTTCTAGACCTTCTTTTGGAGAAATGGCTTTCGGAAGTTTTGCCAGGAAACGTAGCCCT
AGGCAGGCAGCTTTGCAGCCCCCTTTCTGCTTGTTGCACTTTCTCCATTCGTTCCTTTGCTTTT
TGCAGGCTCTGACTCAGGGAAGATGTTTTCACCTCCTGTGAGCAGTGGGAAAAATGGACCAACT
TCTTTGGCAAGTGGACATTTTACTGGCTCAAATGTAGAAGACAGAAGTAGCTCAGGGTCCTGGG
GGAATGGAGGACATCCAAGCCCGTCCAGGAACTATGGAGATGGGACTCCCTATGACCACATGAC
CAGCAGGGACCTTGGGTCACATGACAATCTCTCTCCACCTTTTGTCAATTCCAGAATACAAAGT
AAAACAGAAAGGGGCTCATACTCATCTTATGGGAGAGAATCAAACTTACAGGGTTGCCACCAGA
GTCTCCTTGGAGGTGACATGGATATGGGCAACCCAGGAACCCTTTCGCCCACCAAACCTGGTTC
CCAGTACTATCAGTATTCTAGCAATAATCCCCGAAGGAGGCCTCTTCACAGTAGTGCCATGGAG
GTACAGACAAAGAAAGTTCGAAAAGTTCCTCCAGGTTTGCCATCTTCAGTCTATGCTCCATCAG
CAAGCACTGCCGACTACAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACCAGCAC
TTTCCCTAGCTCCTTCTTCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCTCCAGT
GGGATGAATCAGCCTGGCTATGCAGGAATGTTGGGCAACTCTTCTCATATTCCACAGTCCAGCA
GCTACTGTAGCCTGCATCCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGACATCAA
TTCCAGTCTTCCTCCGATGTCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCTCTTCC
TGTACGCCTCCTGCCAACGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGCCGGCA
GCTCCCAGACTGGAGATGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCACACTAA
CAACAGCTTTTCATCAAACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAGCAGGCACA
GCTGTTTGGTCTAGAAATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTTACACT
CTTTGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAA
CCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGA
CCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCA
ACAGACATTCACTCATGGTGGGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGCAGCCATTC
TCTTCTGCCAAACCAGGTTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTG
AACCCACCCCAGGACCCTTACAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGTCTCCTCTG
GCAGCTCTGAGATCAAATCCGATGACGAGGGTGATGAGAACCTGCAAGACACGAAATCTTCGGA
GGACAAGAAATTAGATGACGACAAGAAGGATATCAAATCAATTACTAGGTCAAGATCTAGCAAT
AATGACGATGAGGACCTGACACCAGAGCAGAAGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCA
ACAATGCCCGAGAGCGTCTGCGGGTCCGTGACATCAACGAGGCTTTCAAAGAGCTCGGCCGCAT
GGTGCAGCTCCACCTCAAGAGTGACAAGCCCCAGACCAAGCTCCTGATCCTCCACCAGGCGGTG
GCCGTCATCCTCAGTCTGGAGCAGCAAGTCCGAGAAAGGAATCTGAATCCGAAAGCTGCGTGTC
TGAAAAGAAGGGAGGAAGAGAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACA
CCCTGGAATGGGAGACGCATCGAATCACATGGGACAGATGTAAAAGGGTCCAAGTTGCCACATT
GCTTCATTAAAACAAGAGACCACTTCCTTAACAGCTGTATTATCTTAAACCCACATAAACACTT
CTCCTTAACCCCCATTTTTGTAATATAAGACAAGTCTGAGTAGTTATGAATCGCAGACGCAAGA
GGTTTCAGCATTCCCAATTATCAAAAAACAGAAAAACAAAAAAAAGAAAGAAAAAAGTGCAACT
TGAGGGACGACTTTCTTTAACATATCATTCAGAATGTGCAAAGCAGTATGTACAGGCTGAGACA
CAGCCCAGAGACTGAACGGCAATCTTTCCACACTGTGGAACAATGCATTTGTGCCTAAACTTCT
TTTGGAAAAAAAAAATATAATTAATTTGTAAGTCTGAAAAAAAAATATTTAATTTAAAAAAAAT
TGTAAACTTGCAATAATGAAAAAGTGTACTTCTGAAGAAAACTACATGAACGTTTTTGTTGGTA
TTCAAGTCAGCTAGTGTTTATAATTACTGGATATTGAATTAGGGGAAGCTCGGCTGCCCTAGTA
ACAAAACCAGCAAACGTCCTGATGACAACGAAGTGATGACATTAGCCATTCCTTAGGGTAGGAG
GAACAGATGGATCTTATAGACCTATGACAAATATATATATAAATATATATATAAATATATATTA
AAAATTTAGTGACTATGGTAAGCTTTTGTTCATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAA
TAGTACTGATTAACTTTTTTAAAAGAAAGATTTTACTGTAAATATGGATTTTTTTTTTTTTGGT
CTTATTTCTGTCCCTTTCCCTGGTTTGTTATCGTAACCTGTAGTGCCAACTCTGCTTCCAGAGG
GGTAGTGCAGGATGAAATGCTGACCCTGATGTTGCTTCTCATTCATAAATAAGTAGAAAGTTGT
TTCTCCAGTCTTTTGGGAACACAGGACTTAAAAGTCACATCATGTGTAGATATTACAAGCAGCA
TTACCAAGACATGGCAAAAAGAGTTTGTCTGAATTGTAATGTTGCGTTTGTGAACCTATTCTGG
GATTTTCAGAGGTACAAGGTTAGAATGCTACAATGTTACCACTGTGCCTTCCAATGTTTATATC
ATCGGAAACATAACATAATCAAAGTGGCTGTGATTTAACAAAATGATTAAAGTGTTACCTACCT
GTGTAGCCGAAGTAGTGTGCAGTGAGGCGTTTCTGAATACATGGTCAGATTTTTGGAAAAAAAC
AAAAACAAAAAAAACAAGTAAAGTTCAAAAACCGTCAAATGAGAAAATTGCAAGTAGTGTGACA
GAGCTGATTGATTTTGTTGCTTTCTTGATTTTTTTTTTCAAAATGGGTTTACTAAAATGTAGAT
GACTTAACTGCCTCCTCCTTCGTCTGAAAAATGCCAATATTCAATCATCATGCAGCATTATAAC
AAGCCTTATAAGTCCTAAAGCATTAAGTTGCACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTC
TGGCCAGTATGAATGAAGTTTATACTTACCATATTTGATAGAAACATAGATCAAGCTATGGCAC
AGCGACTCATCAGATAGCTAGCTTTGACGTCTGGGCACAATTGAACCAACTTCCATCGTGAATC
TTTATAATGATTGACTTTGGTGTATAGTGCAGTAAACAAATAGTGCTCCTAGTTAAGTATTTGT
CAGCATCCTTTTGTCTCTAACTTGTTTCTATTTTTACAGCCACACAATTCTTGGCATGTATTAA
GAAAAAAAAAAATCCCTGTTCAAGTAGTTTTTCCACCTATCAGCACTGAGTAAATGCCATAAAT
CCATTGAAATGGTCTAAATGTTCCATCTGTTCTCCTGTTTTGCCAGTTATATAGTAATGAAATA
CATTTGTAAATTTTATGCAACAAATGGCAAACGTATCATTATTTTGAAATTGTGTATGTAAAAG
TTATATTTTTACATGTAGACTCTTGTTATTATGTGTTTTAATACATTGTATCAGTTTTTGTTTT
TTTTTAAAAACTGTGGTTTAAAAAGAAGTCTCATTTAAATGAAATAGCTACAAGAATCAGAATT
TTATGTTCATTTCTGAAAATGTAAGAACAAATAAGATAGTTACCACGTGGTCATCTTTTACAAA
CCCATAAACATTTTGATTAGCTGTGTGTGTGTTGAAAAACTGTAAATATGTTCAGTAGCGATAA
AACTAAAATAACTTTGATTTGTTGATAAGTTCCTAAAATGTGGAGGTGGATTAAAACCTTAGGA
GAATAGCAGAAATCAAACTTCATGAAAAGTTATTTTGGGGCTTTCCTGTGAAATGTATGAACAA
AGAGGCTCAGAGAAGGACATGGAAGACAATAATGTATACTCTCTCCTCCTCCCTGAATAATGAA
AACCATGTGTATTTGTTCCCTCCGTATGTTAAAGATTTCCTTTTAGTGGTACATTCTGCACTCA
TTTTGTATAGTCTACCAAGGCGGGTATCCCTAGGAACAATATTATATAGGAAGCAGGTATACTC
TGATCACATTCAGGATAAGTGTACAGAAGAAAATACGGTGTTTACTCTTTAGGGAACTGGAAAC
ACTCCCTGCATTGATGTACATTTTAAGAATGGCACTTTTGATACATGTTATCATAAAGGTGCTT
AATAGAGCTGAATTAAAGTTTTTCAAATCTGTAAACAAAGCAAAAAAGTAAATTGTAGTCATTT
GATTATTTTTTAAATTGGTGCTTTATATTTTGTTCTCACTCAGAGTAAAAGCTGCAATTTATTG
TTCACCAGCTTTGATGTATTCATTACTCAGTAATGCAATACCTCTATTGTTGAATTCCCTTTGG
AAATAAGTGAAAATTCTAACGGCCACTGAAAGCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACA
TAATCTGCACCTATCCATATTAATTGGGTTGTATCCCCATTAAAAAAGAAAAAAAGGGAATGTG
GCCTTTTTAGTGTGTTTTTTATTGTTGTTGTTTTGTAATTATCAAACCCAGGTAAGATATTGGT
ATCCTGCACTGGATTTTCAAATGAAGTTCAGCAGAAGACAGTTAAGATTAAAGTACTATACAAA
AATTTCAAAAGGGTCCATACTACGCTATCTGTATGACGACACTTAGGCTGGGGATCTCTTTCAG
AAACTCGGACTTTAAAAGCAACTTGGAGCAGTTGATCCACCTCCACATTCAAGTAATTTATGAA
TATGCAGAATAGGGATCTGTTCATCTAGAAATTTTTACCATTTGTCTTCTGTGTAGCTGCAAGG
AACACTAATGTTTATACAACTGTCAGTCCACCCAGTGGTGCAACTGGTTCTGATTCAGTCTTCC
GATTCCTTTTTATTTTTCACTTTTTCCTATTTCTGAATTTTTTTTTTTATTTGTGATCTTGATT
TTGATGAGGGGTTGGGGAGTGGGGAGGGAGTCGAACCAAGACTTGGAGTTAAGAGGATTTTCAT
CTTTTGCATCCAACAGGCAGAATATGATCTGTGTCCAAAAGTGAACTTGAGTCAGGAATGAATC
AATTTCAGCATAAACAAGCACAAAAATTTAGTCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGA
TGGAATATGATGAATTCCAACACAATGGGGCACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGC
TTTGGTTTTGTTTGTTTTTCTTTAGAGACATGCTCTTTCTCATGGGACTTGAAGTGGACTCATC
TTTGTGCAGTGCTGGTTTTGCCATACTCATTTCAAGTATTATAGACATATGTAATGGTGAAAAT
ATATGAACTGTGGCCTTTTTCATTCTTGTTACTTGTGATGCAATTAAGTGAAGATAAGAAAAAA
AAAAAAAAAGCAGAGATTTACCATGTATCAGTGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTC
TAGTGCTCTTTTGCTATAAAATAGACTGTAGTACACCCTAGTAGGAAAAAAAAAAAACTAAATT
TAAAAATAAAAAATATATTTGGCTTATTTTTCGCAGGAGCAATCCTTTTATACCATGAATATTA
CAAAAAAATTGTCAGATTCTGAATATTTCTTCTTTGTAGATTTTTGGAATCATTATGAGTAAAA
GTTTGTTACTTTATTTTACTATTTAAAAGATGTTATTTTACCATGTGTTACCAAGATGAAACTG
TATGGGTAGCTTTTTTGTTTGTTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAG
GTCGCAGCGGGGAAATTTTTTGCGACTGTACACATAGCTGCAGCATTAAAAACTTAAAAAAATT
GTTAAAAAAAAAAAAAGGGAAAACATTTCAAAAAAAAAAAAAAAGATAAACAGTTACACCTTGT
TTTCAATGTGTGGCTGAGTGCCTCGATTTTTTCATGTTTTTGGTGTATTTCTGATTTGTAGAAG
TGTCCAAACAGGTTGTGTGCTGGAGTTCCTTCAAGACAAAAACAAACCCAGCTTGGTCAAGGCC
ATTACCTGTTTCCCATCTGTAGTTATTCGATGAAGTCATGTACATGACCGTTCTGTAGCAATAA
ATGTGCCATTTTTATAAACTGTTTCTGACACTTGTTTCATTTCATTTTGCATTGTCCATATAGC
TATGATTCTCTTCTGTAAGTAAAACGCATCTATATTTCATTTTCCAAGTGTTGGAGGTATTGAC
AGCTTAACAAACAAAACATACAAAAAAAATCACAAAAACAAATTGAAAAGCAAAGCACATGATT
GATCAAGGAAGAGATGCCCTTAATGAAAATGGAACGGGATGCATGCAAAACAAAAAGAAAACTG
TCTAGAGGATTAACTAATTGAAGGAATATAATTAATGTGTGTGTAACACTGAAGCTATGCATTT
GAAGAGCTCTGAACTGCACCAGTGTTTTCGGTTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTT
AACCTTTTGCACCAGTTGGTCGGCTGTTTGGCAGAACATTCTCAGATCTTTTCAGTCAAAAATC
TAAGATGATTTATTTTGTATCACTTTGTTAAAAGCTGAATATTGTTAACTACAGTTAATATTAA
CACTGTATTTATACTTTCTCAAACTACATCCGCCCCACCACTTCTGGTTGCCTCTGTTGACTAT
TAATCCAGATGTAAACAACCAGATGTTTTTTTCTAACTTGTACAAACTGACGTGTGTCAACTAT
CATGGAAGGAAAAAAATGTACAGATTAAAATTATTCAGTGTTATGTACTGTAAGTTAATATTTT
TGTAGAATGGACATCAATCTACTTTGCAAAATTTGGAGGCTATTTCAACATTGCACTGTAGAAA
TGTAAAGTAATGTATGCAATGTAAAGGAAAGCCCGCGGTAGCTGAGCGCTTCATAACAGAATGT
TCTAATCAAGTACGTGGTATTTGGGGATGTCTCCAATATTGCTCTTGTATTCTTTCTAATTGGG
TTTAGTGACTAGTTGAAGGAAAATGTTATAACGCCATTTGGTTCACATGTGAAGTGCCCTCCAT
AGCCAAATGTTGGGATTTTTTTTTTTTTCGTTTTTGGTTGGACTGTTTGCAGATATTTAAATTT
TATGAAATTTCCAAAGATTTTGGTTGATAACCCCCTTTTACCTTCTAAATGATTTGAGATGTTC
TTATGTTCTTACTGTGTGTTTTAAATATATATAAAAGAGCCACAAGCATTTAGTCTTTTAGTAT
TATATTTGATCATATAACTACTACTGAAAAGGGGTGGGGGGGAATGTGCCTGTGCACCCCTACA
GTATCTTGTGTAGTGTCTATTAACATTGTTCTCTTTTAGAGGACCACATTAAAAGGTACATTAA
TCTTA

hide sequence

RefSeq Acc Id:

NM_001369582 ⟹ NP_001356511

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,589,811 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,792,862 (-)	NCBI

Sequence:

show sequence

CTCTTTATAAGCCCGCAGTTCCCGGATGTGAATGGATTACAATGTATCTTTCAGGGAAACCTAT
TATTATCAATGTGACTCCACGGGGGAGTCCATGGTGATGATGATGAGGAGGAGGATGATGATGA
TGAGACACCTCTAAACTTGGAACAAGTTTAAGACTTTATGAGAGAAGAAAAAAAATCACCAACA
AGAATTGTTTGAGGAAAAATTATAACTATCCTGTGTTCATTTTTTTTTTTATAAACAATAAGAA
AAAGTTGTTGGATTTTTTTTTAATGATTTCTTTTTTGGGGGAGGGAATTTTGTTGCAGTTTTAT
GGTGGAAAATGCAAAAACCAGAGCCAGGTGCATAATCTTGTAATCTGTGGATATCCCTGGAGCA
GGACTGAGTACCAGTTAAAATACTTTTTGGGGATACACATGTGAGATACTAAGTACTTGCAGAA
GATTTTTGTCTCTCTTTTTAAAGTCTCTTTCCTTGGAATATTGTGAGAATATTTGTGGCCATTT
AAGATGTTTTCACCTCCTGTGAGCAGTGGGAAAAATGGACCAACTTCTTTGGCAAGTGGACATT
TTACTGGCTCAAATGTAGAAGACAGAAGTAGCTCAGGGTCCTGGGGGAATGGAGGACATCCAAG
CCCGTCCAGGAACTATGGAGATGGGACTCCCTATGACCACATGACCAGCAGGGACCTTGGGTCA
CATGACAATCTCTCTCCACCTTTTGTCAATTCCAGAATACAAAGTAAAACAGAAAGGGGCTCAT
ACTCATCTTATGGGAGAGAATCAAACTTACAGGGTTGCCACCAGCAGAGTCTCCTTGGAGGTGA
CATGGATATGGGCAACCCAGGAACCCTTTCGCCCACCAAACCTGGTTCCCAGTACTATCAGTAT
TCTAGCAATAATCCCCGAAGGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGACAAAGAAAG
TTCGAAAAGTTCCTCCAGGTTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCACTGCCGACTA
CAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCTAGCTCCTTC
TTCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTG
GCTATGCAGGAATGTTGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCA
TCCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCG
ATGTCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCCA
ACGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCAGACTGGAGA
TGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATCA
AACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAGCAGGCACAGCTGTTTGGTCTAGAA
ATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCGAAT
TGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCA
TCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAG
CCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCAT
GGTGGGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTGCCAAACCAG
GTTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCACCCCAGGACC
CTTACAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTCTGAGATCAA
ATCCGATGACGAGGGTGATGAGAACCTGCAAGACACGAAATCTTCGGAGGACAAGAAATTAGAT
GACGACAAGAAGGATATCAAATCAATTACTAGCAATAATGACGATGAGGACCTGACACCAGAGC
AGAAGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCGTCTGCGGGTCCG
TGACATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCTCAAGAGTGACAAG
CCCCAGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAGTCTGGAGCAGCAAG
TCCGAGAAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGGAAGAGAAGGTGTC
CTCAGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGAATGGGAGACGCATCGAATCAC
ATGGGACAGATGTAAAAGGGTCCAAGTTGCCACATTGCTTCATTAAAACAAGAGACCACTTCCT
TAACAGCTGTATTATCTTAAACCCACATAAACACTTCTCCTTAACCCCCATTTTTGTAATATAA
GACAAGTCTGAGTAGTTATGAATCGCAGACGCAAGAGGTTTCAGCATTCCCAATTATCAAAAAA
CAGAAAAACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGACGACTTTCTTTAACATATCAT
TCAGAATGTGCAAAGCAGTATGTACAGGCTGAGACACAGCCCAGAGACTGAACGGCAATCTTTC
CACACTGTGGAACAATGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAAAATATAATTAATTTG
TAAGTCTGAAAAAAAAATATTTAATTTAAAAAAAATTGTAAACTTGCAATAATGAAAAAGTGTA
CTTCTGAAGAAAACTACATGAACGTTTTTGTTGGTATTCAAGTCAGCTAGTGTTTATAATTACT
GGATATTGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAAACGTCCTGATGACAA
CGAAGTGATGACATTAGCCATTCCTTAGGGTAGGAGGAACAGATGGATCTTATAGACCTATGAC
AAATATATATATAAATATATATATAAATATATATTAAAAATTTAGTGACTATGGTAAGCTTTTG
TTCATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGTACTGATTAACTTTTTTAAAAGAAA
GATTTTACTGTAAATATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCCCTTTCCCTGGTTTGT
TATCGTAACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGATGAAATGCTGACCCTG
ATGTTGCTTCTCATTCATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTTGGGAACACAGGACT
TAAAAGTCACATCATGTGTAGATATTACAAGCAGCATTACCAAGACATGGCAAAAAGAGTTTGT
CTGAATTGTAATGTTGCGTTTGTGAACCTATTCTGGGATTTTCAGAGGTACAAGGTTAGAATGC
TACAATGTTACCACTGTGCCTTCCAATGTTTATATCATCGGAAACATAACATAATCAAAGTGGC
TGTGATTTAACAAAATGATTAAAGTGTTACCTACCTGTGTAGCCGAAGTAGTGTGCAGTGAGGC
GTTTCTGAATACATGGTCAGATTTTTGGAAAAAAACAAAAACAAAAAAAACAAGTAAAGTTCAA
AAACCGTCAAATGAGAAAATTGCAAGTAGTGTGACAGAGCTGATTGATTTTGTTGCTTTCTTGA
TTTTTTTTTTCAAAATGGGTTTACTAAAATGTAGATGACTTAACTGCCTCCTCCTTCGTCTGAA
AAATGCCAATATTCAATCATCATGCAGCATTATAACAAGCCTTATAAGTCCTAAAGCATTAAGT
TGCACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAATGAAGTTTATACTTA
CCATATTTGATAGAAACATAGATCAAGCTATGGCACAGCGACTCATCAGATAGCTAGCTTTGAC
GTCTGGGCACAATTGAACCAACTTCCATCGTGAATCTTTATAATGATTGACTTTGGTGTATAGT
GCAGTAAACAAATAGTGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTGTCTCTAACTTGTTTC
TATTTTTACAGCCACACAATTCTTGGCATGTATTAAGAAAAAAAAAAATCCCTGTTCAAGTAGT
TTTTCCACCTATCAGCACTGAGTAAATGCCATAAATCCATTGAAATGGTCTAAATGTTCCATCT
GTTCTCCTGTTTTGCCAGTTATATAGTAATGAAATACATTTGTAAATTTTATGCAACAAATGGC
AAACGTATCATTATTTTGAAATTGTGTATGTAAAAGTTATATTTTTACATGTAGACTCTTGTTA
TTATGTGTTTTAATACATTGTATCAGTTTTTGTTTTTTTTTAAAAACTGTGGTTTAAAAAGAAG
TCTCATTTAAATGAAATAGCTACAAGAATCAGAATTTTATGTTCATTTCTGAAAATGTAAGAAC
AAATAAGATAGTTACCACGTGGTCATCTTTTACAAACCCATAAACATTTTGATTAGCTGTGTGT
GTGTTGAAAAACTGTAAATATGTTCAGTAGCGATAAAACTAAAATAACTTTGATTTGTTGATAA
GTTCCTAAAATGTGGAGGTGGATTAAAACCTTAGGAGAATAGCAGAAATCAAACTTCATGAAAA
GTTATTTTGGGGCTTTCCTGTGAAATGTATGAACAAAGAGGCTCAGAGAAGGACATGGAAGACA
ATAATGTATACTCTCTCCTCCTCCCTGAATAATGAAAACCATGTGTATTTGTTCCCTCCGTATG
TTAAAGATTTCCTTTTAGTGGTACATTCTGCACTCATTTTGTATAGTCTACCAAGGCGGGTATC
CCTAGGAACAATATTATATAGGAAGCAGGTATACTCTGATCACATTCAGGATAAGTGTACAGAA
GAAAATACGGTGTTTACTCTTTAGGGAACTGGAAACACTCCCTGCATTGATGTACATTTTAAGA
ATGGCACTTTTGATACATGTTATCATAAAGGTGCTTAATAGAGCTGAATTAAAGTTTTTCAAAT
CTGTAAACAAAGCAAAAAAGTAAATTGTAGTCATTTGATTATTTTTTAAATTGGTGCTTTATAT
TTTGTTCTCACTCAGAGTAAAAGCTGCAATTTATTGTTCACCAGCTTTGATGTATTCATTACTC
AGTAATGCAATACCTCTATTGTTGAATTCCCTTTGGAAATAAGTGAAAATTCTAACGGCCACTG
AAAGCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACATAATCTGCACCTATCCATATTAATTGGG
TTGTATCCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTGTTTTTTATTGTTGT
TGTTTTGTAATTATCAAACCCAGGTAAGATATTGGTATCCTGCACTGGATTTTCAAATGAAGTT
CAGCAGAAGACAGTTAAGATTAAAGTACTATACAAAAATTTCAAAAGGGTCCATACTACGCTAT
CTGTATGACGACACTTAGGCTGGGGATCTCTTTCAGAAACTCGGACTTTAAAAGCAACTTGGAG
CAGTTGATCCACCTCCACATTCAAGTAATTTATGAATATGCAGAATAGGGATCTGTTCATCTAG
AAATTTTTACCATTTGTCTTCTGTGTAGCTGCAAGGAACACTAATGTTTATACAACTGTCAGTC
CACCCAGTGGTGCAACTGGTTCTGATTCAGTCTTCCGATTCCTTTTTATTTTTCACTTTTTCCT
ATTTCTGAATTTTTTTTTTTATTTGTGATCTTGATTTTGATGAGGGGTTGGGGAGTGGGGAGGG
AGTCGAACCAAGACTTGGAGTTAAGAGGATTTTCATCTTTTGCATCCAACAGGCAGAATATGAT
CTGTGTCCAAAAGTGAACTTGAGTCAGGAATGAATCAATTTCAGCATAAACAAGCACAAAAATT
TAGTCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGAATATGATGAATTCCAACACAATGG
GGCACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTGTTTTTCTTTAGAGA
CATGCTCTTTCTCATGGGACTTGAAGTGGACTCATCTTTGTGCAGTGCTGGTTTTGCCATACTC
ATTTCAAGTATTATAGACATATGTAATGGTGAAAATATATGAACTGTGGCCTTTTTCATTCTTG
TTACTTGTGATGCAATTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGAGATTTACCATGTAT
CAGTGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCTATAAAATAGACTG
TAGTACACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAAAATAAAAAATATATTTGGCTTATT
TTTCGCAGGAGCAATCCTTTTATACCATGAATATTACAAAAAAATTGTCAGATTCTGAATATTT
CTTCTTTGTAGATTTTTGGAATCATTATGAGTAAAAGTTTGTTACTTTATTTTACTATTTAAAA
GATGTTATTTTACCATGTGTTACCAAGATGAAACTGTATGGGTAGCTTTTTTGTTTGTTTTTTG
TTTTGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAATTTTTTGCGACTG
TACACATAGCTGCAGCATTAAAAACTTAAAAAAATTGTTAAAAAAAAAAAAAGGGAAAACATTT
CAAAAAAAAAAAAAAAGATAAACAGTTACACCTTGTTTTCAATGTGTGGCTGAGTGCCTCGATT
TTTTCATGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTCCAAACAGGTTGTGTGCTGGAGTTC
CTTCAAGACAAAAACAAACCCAGCTTGGTCAAGGCCATTACCTGTTTCCCATCTGTAGTTATTC
GATGAAGTCATGTACATGACCGTTCTGTAGCAATAAATGTGCCATTTTTATAAACTGTTTCTGA
CACTTGTTTCATTTCATTTTGCATTGTCCATATAGCTATGATTCTCTTCTGTAAGTAAAACGCA
TCTATATTTCATTTTCCAAGTGTTGGAGGTATTGACAGCTTAACAAACAAAACATACAAAAAAA
ATCACAAAAACAAATTGAAAAGCAAAGCACATGATTGATCAAGGAAGAGATGCCCTTAATGAAA
ATGGAACGGGATGCATGCAAAACAAAAAGAAAACTGTCTAGAGGATTAACTAATTGAAGGAATA
TAATTAATGTGTGTGTAACACTGAAGCTATGCATTTGAAGAGCTCTGAACTGCACCAGTGTTTT
CGGTTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACCAGTTGGTCGGCTGTT
TGGCAGAACATTCTCAGATCTTTTCAGTCAAAAATCTAAGATGATTTATTTTGTATCACTTTGT
TAAAAGCTGAATATTGTTAACTACAGTTAATATTAACACTGTATTTATACTTTCTCAAACTACA
TCCGCCCCACCACTTCTGGTTGCCTCTGTTGACTATTAATCCAGATGTAAACAACCAGATGTTT
TTTTCTAACTTGTACAAACTGACGTGTGTCAACTATCATGGAAGGAAAAAAATGTACAGATTAA
AATTATTCAGTGTTATGTACTGTAAGTTAATATTTTTGTAGAATGGACATCAATCTACTTTGCA
AAATTTGGAGGCTATTTCAACATTGCACTGTAGAAATGTAAAGTAATGTATGCAATGTAAAGGA
AAGCCCGCGGTAGCTGAGCGCTTCATAACAGAATGTTCTAATCAAGTACGTGGTATTTGGGGAT
GTCTCCAATATTGCTCTTGTATTCTTTCTAATTGGGTTTAGTGACTAGTTGAAGGAAAATGTTA
TAACGCCATTTGGTTCACATGTGAAGTGCCCTCCATAGCCAAATGTTGGGATTTTTTTTTTTTT
CGTTTTTGGTTGGACTGTTTGCAGATATTTAAATTTTATGAAATTTCCAAAGATTTTGGTTGAT
AACCCCCTTTTACCTTCTAAATGATTTGAGATGTTCTTATGTTCTTACTGTGTGTTTTAAATAT
ATATAAAAGAGCCACAAGCATTTAGTCTTTTAGTATTATATTTGATCATATAACTACTACTGAA
AAGGGGTGGGGGGGAATGTGCCTGTGCACCCCTACAGTATCTTGTGTAGTGTCTATTAACATTG
TTCTCTTTTAGAGGACCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001369583 ⟹ NP_001356512

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,588,192 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,791,244 (-)	NCBI

Sequence:

show sequence

GCGGATCTGTAGTGGCGGCGGCGGCGGCGGCGGCGGGGAGGCAGCAGGCGCGGGAGCGGGCGCA
GGAGCAGGCGGCGGCGGTGGCGGCGGCGGTTAGACATGAACGCCGCCTCGGCGCCGGCGGTGCA
CGGAGAGCCCCTTCTCGCGCGCGGGCGATGTTTTCACCTCCTGTGAGCAGTGGGAAAAATGGAC
CAACTTCTTTGGCAAGTGGACATTTTACTGGCTCAAATGTAGAAGACAGAAGTAGCTCAGGGTC
CTGGGGGAATGGAGGACATCCAAGCCCGTCCAGGAACTATGGAGATGGGACTCCCTATGACCAC
ATGACCAGCAGGGACCTTGGGTCACATGACAATCTCTCTCCACCTTTTGTCAATTCCAGAATAC
AAAGTAAAACAGAAAGGGGCTCATACTCATCTTATGGGAGAGAATCAAACTTACAGGGTTGCCA
CCAGCAGAGTCTCCTTGGAGGTGACATGGATATGGGCAACCCAGGAACCCTTTCGCCCACCAAA
CCTGGTTCCCAGTACTATCAGTATTCTAGCAATAATCCCCGAAGGAGGCCTCTTCACAGTAGTG
CCATGGAGGTACAGACAAAGAAAGTTCGAAAAGTTCCTCCAGGTTTGCCATCTTCAGTCTATGC
TCCATCAGCAAGCACTGCCGACTACAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCA
ACCAGCACTTTCCCTAGCTCCTTCTTCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCT
CCTCCAGTGGGATGAATCAGCCTGGCTATGCAGGAATGTTGGGCAACTCTTCTCATATTCCACA
GTCCAGCAGCTACTGTAGCCTGCATCCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCA
GACATCAATTCCAGTCTTCCTCCGATGTCCACTTTCCATCGTAGTGGTACAAACCATTACAGCA
CCTCTTCCTGTACGCCTCCTGCCAACGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGC
AGCCGGCAGCTCCCAGACTGGAGATGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGAT
CACACTAACAACAGCTTTTCATCAAACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAG
CAGGCACAGCTGTTTGGTCTAGAAATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACC
CTTACACTCTTTGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTT
CTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAA
TCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCT
TTCAGCCAACAGACATTCACTCATGGTGGGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGC
AGCCATTCTCTTCTGCCAAACCAGGTTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCC
CTGACCTGAACCCACCCCAGGACCCTTACAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGT
CTCCTCTGGCAGCTCTGAGATCAAATCCGATGACGAGGGTGATGAGAACCTGCAAGACACGAAA
TCTTCGGAGGACAAGAAATTAGATGACGACAAGAAGGATATCAAATCAATTACTAGCAATAATG
ACGATGAGGACCTGACACCAGAGCAGAAGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAA
TGCCCGAGAGCGTCTGCGGGTCCGTGACATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTG
CAGCTCCACCTCAAGAGTGACAAGCCCCAGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCG
TCATCCTCAGTCTGGAGCAGCAAGTCCGAGAAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAA
AAGAAGGGAGGAAGAGAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCT
GGAATGGGAGACGCATCGAATCACATGGGACAGATGTAAAAGGGTCCAAGTTGCCACATTGCTT
CATTAAAACAAGAGACCACTTCCTTAACAGCTGTATTATCTTAAACCCACATAAACACTTCTCC
TTAACCCCCATTTTTGTAATATAAGACAAGTCTGAGTAGTTATGAATCGCAGACGCAAGAGGTT
TCAGCATTCCCAATTATCAAAAAACAGAAAAACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAG
GGACGACTTTCTTTAACATATCATTCAGAATGTGCAAAGCAGTATGTACAGGCTGAGACACAGC
CCAGAGACTGAACGGCAATCTTTCCACACTGTGGAACAATGCATTTGTGCCTAAACTTCTTTTG
GAAAAAAAAAATATAATTAATTTGTAAGTCTGAAAAAAAAATATTTAATTTAAAAAAAATTGTA
AACTTGCAATAATGAAAAAGTGTACTTCTGAAGAAAACTACATGAACGTTTTTGTTGGTATTCA
AGTCAGCTAGTGTTTATAATTACTGGATATTGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAA
AACCAGCAAACGTCCTGATGACAACGAAGTGATGACATTAGCCATTCCTTAGGGTAGGAGGAAC
AGATGGATCTTATAGACCTATGACAAATATATATATAAATATATATATAAATATATATTAAAAA
TTTAGTGACTATGGTAAGCTTTTGTTCATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGT
ACTGATTAACTTTTTTAAAAGAAAGATTTTACTGTAAATATGGATTTTTTTTTTTTTGGTCTTA
TTTCTGTCCCTTTCCCTGGTTTGTTATCGTAACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTA
GTGCAGGATGAAATGCTGACCCTGATGTTGCTTCTCATTCATAAATAAGTAGAAAGTTGTTTCT
CCAGTCTTTTGGGAACACAGGACTTAAAAGTCACATCATGTGTAGATATTACAAGCAGCATTAC
CAAGACATGGCAAAAAGAGTTTGTCTGAATTGTAATGTTGCGTTTGTGAACCTATTCTGGGATT
TTCAGAGGTACAAGGTTAGAATGCTACAATGTTACCACTGTGCCTTCCAATGTTTATATCATCG
GAAACATAACATAATCAAAGTGGCTGTGATTTAACAAAATGATTAAAGTGTTACCTACCTGTGT
AGCCGAAGTAGTGTGCAGTGAGGCGTTTCTGAATACATGGTCAGATTTTTGGAAAAAAACAAAA
ACAAAAAAAACAAGTAAAGTTCAAAAACCGTCAAATGAGAAAATTGCAAGTAGTGTGACAGAGC
TGATTGATTTTGTTGCTTTCTTGATTTTTTTTTTCAAAATGGGTTTACTAAAATGTAGATGACT
TAACTGCCTCCTCCTTCGTCTGAAAAATGCCAATATTCAATCATCATGCAGCATTATAACAAGC
CTTATAAGTCCTAAAGCATTAAGTTGCACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGC
CAGTATGAATGAAGTTTATACTTACCATATTTGATAGAAACATAGATCAAGCTATGGCACAGCG
ACTCATCAGATAGCTAGCTTTGACGTCTGGGCACAATTGAACCAACTTCCATCGTGAATCTTTA
TAATGATTGACTTTGGTGTATAGTGCAGTAAACAAATAGTGCTCCTAGTTAAGTATTTGTCAGC
ATCCTTTTGTCTCTAACTTGTTTCTATTTTTACAGCCACACAATTCTTGGCATGTATTAAGAAA
AAAAAAAATCCCTGTTCAAGTAGTTTTTCCACCTATCAGCACTGAGTAAATGCCATAAATCCAT
TGAAATGGTCTAAATGTTCCATCTGTTCTCCTGTTTTGCCAGTTATATAGTAATGAAATACATT
TGTAAATTTTATGCAACAAATGGCAAACGTATCATTATTTTGAAATTGTGTATGTAAAAGTTAT
ATTTTTACATGTAGACTCTTGTTATTATGTGTTTTAATACATTGTATCAGTTTTTGTTTTTTTT
TAAAAACTGTGGTTTAAAAAGAAGTCTCATTTAAATGAAATAGCTACAAGAATCAGAATTTTAT
GTTCATTTCTGAAAATGTAAGAACAAATAAGATAGTTACCACGTGGTCATCTTTTACAAACCCA
TAAACATTTTGATTAGCTGTGTGTGTGTTGAAAAACTGTAAATATGTTCAGTAGCGATAAAACT
AAAATAACTTTGATTTGTTGATAAGTTCCTAAAATGTGGAGGTGGATTAAAACCTTAGGAGAAT
AGCAGAAATCAAACTTCATGAAAAGTTATTTTGGGGCTTTCCTGTGAAATGTATGAACAAAGAG
GCTCAGAGAAGGACATGGAAGACAATAATGTATACTCTCTCCTCCTCCCTGAATAATGAAAACC
ATGTGTATTTGTTCCCTCCGTATGTTAAAGATTTCCTTTTAGTGGTACATTCTGCACTCATTTT
GTATAGTCTACCAAGGCGGGTATCCCTAGGAACAATATTATATAGGAAGCAGGTATACTCTGAT
CACATTCAGGATAAGTGTACAGAAGAAAATACGGTGTTTACTCTTTAGGGAACTGGAAACACTC
CCTGCATTGATGTACATTTTAAGAATGGCACTTTTGATACATGTTATCATAAAGGTGCTTAATA
GAGCTGAATTAAAGTTTTTCAAATCTGTAAACAAAGCAAAAAAGTAAATTGTAGTCATTTGATT
ATTTTTTAAATTGGTGCTTTATATTTTGTTCTCACTCAGAGTAAAAGCTGCAATTTATTGTTCA
CCAGCTTTGATGTATTCATTACTCAGTAATGCAATACCTCTATTGTTGAATTCCCTTTGGAAAT
AAGTGAAAATTCTAACGGCCACTGAAAGCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACATAAT
CTGCACCTATCCATATTAATTGGGTTGTATCCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCT
TTTTAGTGTGTTTTTTATTGTTGTTGTTTTGTAATTATCAAACCCAGGTAAGATATTGGTATCC
TGCACTGGATTTTCAAATGAAGTTCAGCAGAAGACAGTTAAGATTAAAGTACTATACAAAAATT
TCAAAAGGGTCCATACTACGCTATCTGTATGACGACACTTAGGCTGGGGATCTCTTTCAGAAAC
TCGGACTTTAAAAGCAACTTGGAGCAGTTGATCCACCTCCACATTCAAGTAATTTATGAATATG
CAGAATAGGGATCTGTTCATCTAGAAATTTTTACCATTTGTCTTCTGTGTAGCTGCAAGGAACA
CTAATGTTTATACAACTGTCAGTCCACCCAGTGGTGCAACTGGTTCTGATTCAGTCTTCCGATT
CCTTTTTATTTTTCACTTTTTCCTATTTCTGAATTTTTTTTTTTATTTGTGATCTTGATTTTGA
TGAGGGGTTGGGGAGTGGGGAGGGAGTCGAACCAAGACTTGGAGTTAAGAGGATTTTCATCTTT
TGCATCCAACAGGCAGAATATGATCTGTGTCCAAAAGTGAACTTGAGTCAGGAATGAATCAATT
TCAGCATAAACAAGCACAAAAATTTAGTCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGA
ATATGATGAATTCCAACACAATGGGGCACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTG
GTTTTGTTTGTTTTTCTTTAGAGACATGCTCTTTCTCATGGGACTTGAAGTGGACTCATCTTTG
TGCAGTGCTGGTTTTGCCATACTCATTTCAAGTATTATAGACATATGTAATGGTGAAAATATAT
GAACTGTGGCCTTTTTCATTCTTGTTACTTGTGATGCAATTAAGTGAAGATAAGAAAAAAAAAA
AAAAAGCAGAGATTTACCATGTATCAGTGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGT
GCTCTTTTGCTATAAAATAGACTGTAGTACACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAA
AATAAAAAATATATTTGGCTTATTTTTCGCAGGAGCAATCCTTTTATACCATGAATATTACAAA
AAAATTGTCAGATTCTGAATATTTCTTCTTTGTAGATTTTTGGAATCATTATGAGTAAAAGTTT
GTTACTTTATTTTACTATTTAAAAGATGTTATTTTACCATGTGTTACCAAGATGAAACTGTATG
GGTAGCTTTTTTGTTTGTTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCG
CAGCGGGGAAATTTTTTGCGACTGTACACATAGCTGCAGCATTAAAAACTTAAAAAAATTGTTA
AAAAAAAAAAAAGGGAAAACATTTCAAAAAAAAAAAAAAAGATAAACAGTTACACCTTGTTTTC
AATGTGTGGCTGAGTGCCTCGATTTTTTCATGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTC
CAAACAGGTTGTGTGCTGGAGTTCCTTCAAGACAAAAACAAACCCAGCTTGGTCAAGGCCATTA
CCTGTTTCCCATCTGTAGTTATTCGATGAAGTCATGTACATGACCGTTCTGTAGCAATAAATGT
GCCATTTTTATAAACTGTTTCTGACACTTGTTTCATTTCATTTTGCATTGTCCATATAGCTATG
ATTCTCTTCTGTAAGTAAAACGCATCTATATTTCATTTTCCAAGTGTTGGAGGTATTGACAGCT
TAACAAACAAAACATACAAAAAAAATCACAAAAACAAATTGAAAAGCAAAGCACATGATTGATC
AAGGAAGAGATGCCCTTAATGAAAATGGAACGGGATGCATGCAAAACAAAAAGAAAACTGTCTA
GAGGATTAACTAATTGAAGGAATATAATTAATGTGTGTGTAACACTGAAGCTATGCATTTGAAG
AGCTCTGAACTGCACCAGTGTTTTCGGTTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACC
TTTTGCACCAGTTGGTCGGCTGTTTGGCAGAACATTCTCAGATCTTTTCAGTCAAAAATCTAAG
ATGATTTATTTTGTATCACTTTGTTAAAAGCTGAATATTGTTAACTACAGTTAATATTAACACT
GTATTTATACTTTCTCAAACTACATCCGCCCCACCACTTCTGGTTGCCTCTGTTGACTATTAAT
CCAGATGTAAACAACCAGATGTTTTTTTCTAACTTGTACAAACTGACGTGTGTCAACTATCATG
GAAGGAAAAAAATGTACAGATTAAAATTATTCAGTGTTATGTACTGTAAGTTAATATTTTTGTA
GAATGGACATCAATCTACTTTGCAAAATTTGGAGGCTATTTCAACATTGCACTGTAGAAATGTA
AAGTAATGTATGCAATGTAAAGGAAAGCCCGCGGTAGCTGAGCGCTTCATAACAGAATGTTCTA
ATCAAGTACGTGGTATTTGGGGATGTCTCCAATATTGCTCTTGTATTCTTTCTAATTGGGTTTA
GTGACTAGTTGAAGGAAAATGTTATAACGCCATTTGGTTCACATGTGAAGTGCCCTCCATAGCC
AAATGTTGGGATTTTTTTTTTTTTCGTTTTTGGTTGGACTGTTTGCAGATATTTAAATTTTATG
AAATTTCCAAAGATTTTGGTTGATAACCCCCTTTTACCTTCTAAATGATTTGAGATGTTCTTAT
GTTCTTACTGTGTGTTTTAAATATATATAAAAGAGCCACAAGCATTTAGTCTTTTAGTATTATA
TTTGATCATATAACTACTACTGAAAAGGGGTGGGGGGGAATGTGCCTGTGCACCCCTACAGTAT
CTTGTGTAGTGTCTATTAACATTGTTCTCTTTTAGAGGACCACATTAAAAGGTACATTAATCTT
A

hide sequence

RefSeq Acc Id:

NM_001369584 ⟹ NP_001356513

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,589,811 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,792,862 (-)	NCBI

Sequence:

show sequence

CTCTTTATAAGCCCGCAGTTCCCGGATGTGAATGGATTACAATGTATCTTTCAGGGAAACCTAT
TATTATCAATGTGACTCCACGGGGGAGTCCATGGTGATGATGATGAGGAGGAGGATGATGATGA
TGAGACACCTCTAAACTTGGAACAAGTTTAAGACTTTATGAGAGAAGAAAAAAAATCACCAACA
AGAATTGTTTGAGGAAAAATTATAACTATCCTGTGTTCATTTTTTTTTTTATAAACAATAAGAA
AAAGTTGTTGGATTTTTTTTTAATGATTTCTTTTTTGGGGGAGGGAATTTTGTTGCAGTTTTAT
GGTGGAAAATGCAAAAACCAGAGCCAGGTGCATAATCTTGTAATCTGTGGATATCCCTGGAGCA
GGACTGAGTACCAGTTAAAATACTTTTTGGGGATACACATGTGAGATACTAAGTACTTGCAGAA
GATTTTTGTCTCTCTTTTTAAAGTCTCTTTCCTTGGAATATTGTGAGAATATTTGTGGCCATTT
AAGATGTTTTCACCTCCTGTGAGCAGTGGGAAAAATGGACCAACTTCTTTGGCAAGTGGACATT
TTACTGGCTCAAATGTAGAAGACAGAAGTAGCTCAGGGTCCTGGGGGAATGGAGGACATCCAAG
CCCGTCCAGGAACTATGGAGATGGGACTCCCTATGACCACATGACCAGCAGGGACCTTGGGTCA
CATGACAATCTCTCTCCACCTTTTGTCAATTCCAGAATACAAAGTAAAACAGAAAGGGGCTCAT
ACTCATCTTATGGGAGAGAATCAAACTTACAGGGTTGCCACCAGAGTCTCCTTGGAGGTGACAT
GGATATGGGCAACCCAGGAACCCTTTCGCCCACCAAACCTGGTTCCCAGTACTATCAGTATTCT
AGCAATAATCCCCGAAGGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGACAAAGAAAGTTC
GAAAAGTTCCTCCAGGTTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCACTGCCGACTACAA
TAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCTAGCTCCTTCTTC
ATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTGGCT
ATGCAGGAATGTTGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCATCC
ACATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCGATG
TCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCCAACG
GGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCAGACTGGAGATGC
TCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATCAAAC
CCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAGCAGGCACAGCTGTTTGGTCTAGAAATG
GAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCGAATTGA
AGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCC
ACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCA
TGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGT
GGGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTGCCAAACCAGGTT
CCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCACCCCAGGACCCTT
ACAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTCTGAGATCAAATC
CGATGACGAGGGTGATGAGAACCTGCAAGACACGAAATCTTCGGAGGACAAGAAATTAGATGAC
GACAAGAAGGATATCAAATCAATTACTAGCAATAATGACGATGAGGACCTGACACCAGAGCAGA
AGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCGTCTGCGGGTCCGTGA
CATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCTCAAGAGTGACAAGCCC
CAGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAGTCTGGAGCAGCAAGTCC
GAGAAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGGAAGAGAAGGTGTCCTC
AGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGAATGGGAGACGCATCGAATCACATG
GGACAGATGTAAAAGGGTCCAAGTTGCCACATTGCTTCATTAAAACAAGAGACCACTTCCTTAA
CAGCTGTATTATCTTAAACCCACATAAACACTTCTCCTTAACCCCCATTTTTGTAATATAAGAC
AAGTCTGAGTAGTTATGAATCGCAGACGCAAGAGGTTTCAGCATTCCCAATTATCAAAAAACAG
AAAAACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGACGACTTTCTTTAACATATCATTCA
GAATGTGCAAAGCAGTATGTACAGGCTGAGACACAGCCCAGAGACTGAACGGCAATCTTTCCAC
ACTGTGGAACAATGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAAAATATAATTAATTTGTAA
GTCTGAAAAAAAAATATTTAATTTAAAAAAAATTGTAAACTTGCAATAATGAAAAAGTGTACTT
CTGAAGAAAACTACATGAACGTTTTTGTTGGTATTCAAGTCAGCTAGTGTTTATAATTACTGGA
TATTGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAAACGTCCTGATGACAACGA
AGTGATGACATTAGCCATTCCTTAGGGTAGGAGGAACAGATGGATCTTATAGACCTATGACAAA
TATATATATAAATATATATATAAATATATATTAAAAATTTAGTGACTATGGTAAGCTTTTGTTC
ATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGTACTGATTAACTTTTTTAAAAGAAAGAT
TTTACTGTAAATATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCCCTTTCCCTGGTTTGTTAT
CGTAACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGATGAAATGCTGACCCTGATG
TTGCTTCTCATTCATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTTGGGAACACAGGACTTAA
AAGTCACATCATGTGTAGATATTACAAGCAGCATTACCAAGACATGGCAAAAAGAGTTTGTCTG
AATTGTAATGTTGCGTTTGTGAACCTATTCTGGGATTTTCAGAGGTACAAGGTTAGAATGCTAC
AATGTTACCACTGTGCCTTCCAATGTTTATATCATCGGAAACATAACATAATCAAAGTGGCTGT
GATTTAACAAAATGATTAAAGTGTTACCTACCTGTGTAGCCGAAGTAGTGTGCAGTGAGGCGTT
TCTGAATACATGGTCAGATTTTTGGAAAAAAACAAAAACAAAAAAAACAAGTAAAGTTCAAAAA
CCGTCAAATGAGAAAATTGCAAGTAGTGTGACAGAGCTGATTGATTTTGTTGCTTTCTTGATTT
TTTTTTTCAAAATGGGTTTACTAAAATGTAGATGACTTAACTGCCTCCTCCTTCGTCTGAAAAA
TGCCAATATTCAATCATCATGCAGCATTATAACAAGCCTTATAAGTCCTAAAGCATTAAGTTGC
ACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAATGAAGTTTATACTTACCA
TATTTGATAGAAACATAGATCAAGCTATGGCACAGCGACTCATCAGATAGCTAGCTTTGACGTC
TGGGCACAATTGAACCAACTTCCATCGTGAATCTTTATAATGATTGACTTTGGTGTATAGTGCA
GTAAACAAATAGTGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTGTCTCTAACTTGTTTCTAT
TTTTACAGCCACACAATTCTTGGCATGTATTAAGAAAAAAAAAAATCCCTGTTCAAGTAGTTTT
TCCACCTATCAGCACTGAGTAAATGCCATAAATCCATTGAAATGGTCTAAATGTTCCATCTGTT
CTCCTGTTTTGCCAGTTATATAGTAATGAAATACATTTGTAAATTTTATGCAACAAATGGCAAA
CGTATCATTATTTTGAAATTGTGTATGTAAAAGTTATATTTTTACATGTAGACTCTTGTTATTA
TGTGTTTTAATACATTGTATCAGTTTTTGTTTTTTTTTAAAAACTGTGGTTTAAAAAGAAGTCT
CATTTAAATGAAATAGCTACAAGAATCAGAATTTTATGTTCATTTCTGAAAATGTAAGAACAAA
TAAGATAGTTACCACGTGGTCATCTTTTACAAACCCATAAACATTTTGATTAGCTGTGTGTGTG
TTGAAAAACTGTAAATATGTTCAGTAGCGATAAAACTAAAATAACTTTGATTTGTTGATAAGTT
CCTAAAATGTGGAGGTGGATTAAAACCTTAGGAGAATAGCAGAAATCAAACTTCATGAAAAGTT
ATTTTGGGGCTTTCCTGTGAAATGTATGAACAAAGAGGCTCAGAGAAGGACATGGAAGACAATA
ATGTATACTCTCTCCTCCTCCCTGAATAATGAAAACCATGTGTATTTGTTCCCTCCGTATGTTA
AAGATTTCCTTTTAGTGGTACATTCTGCACTCATTTTGTATAGTCTACCAAGGCGGGTATCCCT
AGGAACAATATTATATAGGAAGCAGGTATACTCTGATCACATTCAGGATAAGTGTACAGAAGAA
AATACGGTGTTTACTCTTTAGGGAACTGGAAACACTCCCTGCATTGATGTACATTTTAAGAATG
GCACTTTTGATACATGTTATCATAAAGGTGCTTAATAGAGCTGAATTAAAGTTTTTCAAATCTG
TAAACAAAGCAAAAAAGTAAATTGTAGTCATTTGATTATTTTTTAAATTGGTGCTTTATATTTT
GTTCTCACTCAGAGTAAAAGCTGCAATTTATTGTTCACCAGCTTTGATGTATTCATTACTCAGT
AATGCAATACCTCTATTGTTGAATTCCCTTTGGAAATAAGTGAAAATTCTAACGGCCACTGAAA
GCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACATAATCTGCACCTATCCATATTAATTGGGTTG
TATCCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTGTTTTTTATTGTTGTTGT
TTTGTAATTATCAAACCCAGGTAAGATATTGGTATCCTGCACTGGATTTTCAAATGAAGTTCAG
CAGAAGACAGTTAAGATTAAAGTACTATACAAAAATTTCAAAAGGGTCCATACTACGCTATCTG
TATGACGACACTTAGGCTGGGGATCTCTTTCAGAAACTCGGACTTTAAAAGCAACTTGGAGCAG
TTGATCCACCTCCACATTCAAGTAATTTATGAATATGCAGAATAGGGATCTGTTCATCTAGAAA
TTTTTACCATTTGTCTTCTGTGTAGCTGCAAGGAACACTAATGTTTATACAACTGTCAGTCCAC
CCAGTGGTGCAACTGGTTCTGATTCAGTCTTCCGATTCCTTTTTATTTTTCACTTTTTCCTATT
TCTGAATTTTTTTTTTTATTTGTGATCTTGATTTTGATGAGGGGTTGGGGAGTGGGGAGGGAGT
CGAACCAAGACTTGGAGTTAAGAGGATTTTCATCTTTTGCATCCAACAGGCAGAATATGATCTG
TGTCCAAAAGTGAACTTGAGTCAGGAATGAATCAATTTCAGCATAAACAAGCACAAAAATTTAG
TCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGAATATGATGAATTCCAACACAATGGGGC
ACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTGTTTTTCTTTAGAGACAT
GCTCTTTCTCATGGGACTTGAAGTGGACTCATCTTTGTGCAGTGCTGGTTTTGCCATACTCATT
TCAAGTATTATAGACATATGTAATGGTGAAAATATATGAACTGTGGCCTTTTTCATTCTTGTTA
CTTGTGATGCAATTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGAGATTTACCATGTATCAG
TGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCTATAAAATAGACTGTAG
TACACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAAAATAAAAAATATATTTGGCTTATTTTT
CGCAGGAGCAATCCTTTTATACCATGAATATTACAAAAAAATTGTCAGATTCTGAATATTTCTT
CTTTGTAGATTTTTGGAATCATTATGAGTAAAAGTTTGTTACTTTATTTTACTATTTAAAAGAT
GTTATTTTACCATGTGTTACCAAGATGAAACTGTATGGGTAGCTTTTTTGTTTGTTTTTTGTTT
TGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAATTTTTTGCGACTGTAC
ACATAGCTGCAGCATTAAAAACTTAAAAAAATTGTTAAAAAAAAAAAAAGGGAAAACATTTCAA
AAAAAAAAAAAAAGATAAACAGTTACACCTTGTTTTCAATGTGTGGCTGAGTGCCTCGATTTTT
TCATGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTCCAAACAGGTTGTGTGCTGGAGTTCCTT
CAAGACAAAAACAAACCCAGCTTGGTCAAGGCCATTACCTGTTTCCCATCTGTAGTTATTCGAT
GAAGTCATGTACATGACCGTTCTGTAGCAATAAATGTGCCATTTTTATAAACTGTTTCTGACAC
TTGTTTCATTTCATTTTGCATTGTCCATATAGCTATGATTCTCTTCTGTAAGTAAAACGCATCT
ATATTTCATTTTCCAAGTGTTGGAGGTATTGACAGCTTAACAAACAAAACATACAAAAAAAATC
ACAAAAACAAATTGAAAAGCAAAGCACATGATTGATCAAGGAAGAGATGCCCTTAATGAAAATG
GAACGGGATGCATGCAAAACAAAAAGAAAACTGTCTAGAGGATTAACTAATTGAAGGAATATAA
TTAATGTGTGTGTAACACTGAAGCTATGCATTTGAAGAGCTCTGAACTGCACCAGTGTTTTCGG
TTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACCAGTTGGTCGGCTGTTTGG
CAGAACATTCTCAGATCTTTTCAGTCAAAAATCTAAGATGATTTATTTTGTATCACTTTGTTAA
AAGCTGAATATTGTTAACTACAGTTAATATTAACACTGTATTTATACTTTCTCAAACTACATCC
GCCCCACCACTTCTGGTTGCCTCTGTTGACTATTAATCCAGATGTAAACAACCAGATGTTTTTT
TCTAACTTGTACAAACTGACGTGTGTCAACTATCATGGAAGGAAAAAAATGTACAGATTAAAAT
TATTCAGTGTTATGTACTGTAAGTTAATATTTTTGTAGAATGGACATCAATCTACTTTGCAAAA
TTTGGAGGCTATTTCAACATTGCACTGTAGAAATGTAAAGTAATGTATGCAATGTAAAGGAAAG
CCCGCGGTAGCTGAGCGCTTCATAACAGAATGTTCTAATCAAGTACGTGGTATTTGGGGATGTC
TCCAATATTGCTCTTGTATTCTTTCTAATTGGGTTTAGTGACTAGTTGAAGGAAAATGTTATAA
CGCCATTTGGTTCACATGTGAAGTGCCCTCCATAGCCAAATGTTGGGATTTTTTTTTTTTTCGT
TTTTGGTTGGACTGTTTGCAGATATTTAAATTTTATGAAATTTCCAAAGATTTTGGTTGATAAC
CCCCTTTTACCTTCTAAATGATTTGAGATGTTCTTATGTTCTTACTGTGTGTTTTAAATATATA
TAAAAGAGCCACAAGCATTTAGTCTTTTAGTATTATATTTGATCATATAACTACTACTGAAAAG
GGGTGGGGGGGAATGTGCCTGTGCACCCCTACAGTATCTTGTGTAGTGTCTATTAACATTGTTC
TCTTTTAGAGGACCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001369585 ⟹ NP_001356514

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,588,192 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,791,244 (-)	NCBI

Sequence:

show sequence

GCGGATCTGTAGTGGCGGCGGCGGCGGCGGCGGCGGGGAGGCAGCAGGCGCGGGAGCGGGCGCA
GGAGCAGGCGGCGGCGGTGGCGGCGGCGGTTAGACATGAACGCCGCCTCGGCGCCGGCGGTGCA
CGGAGAGCCCCTTCTCGCGCGCGGGCGATGTTTTCACCTCCTGTGAGCAGTGGGAAAAATGGAC
CAACTTCTTTGGCAAGTGGACATTTTACTGGCTCAAATGTAGAAGACAGAAGTAGCTCAGGGTC
CTGGGGGAATGGAGGACATCCAAGCCCGTCCAGGAACTATGGAGATGGGACTCCCTATGACCAC
ATGACCAGCAGGGACCTTGGGTCACATGACAATCTCTCTCCACCTTTTGTCAATTCCAGAATAC
AAAGTAAAACAGAAAGGGGCTCATACTCATCTTATGGGAGAGAATCAAACTTACAGGGTTGCCA
CCAGAGTCTCCTTGGAGGTGACATGGATATGGGCAACCCAGGAACCCTTTCGCCCACCAAACCT
GGTTCCCAGTACTATCAGTATTCTAGCAATAATCCCCGAAGGAGGCCTCTTCACAGTAGTGCCA
TGGAGGTACAGACAAAGAAAGTTCGAAAAGTTCCTCCAGGTTTGCCATCTTCAGTCTATGCTCC
ATCAGCAAGCACTGCCGACTACAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACC
AGCACTTTCCCTAGCTCCTTCTTCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCT
CCAGTGGGATGAATCAGCCTGGCTATGCAGGAATGTTGGGCAACTCTTCTCATATTCCACAGTC
CAGCAGCTACTGTAGCCTGCATCCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGAC
ATCAATTCCAGTCTTCCTCCGATGTCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCT
CTTCCTGTACGCCTCCTGCCAACGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGC
CGGCAGCTCCCAGACTGGAGATGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCAC
ACTAACAACAGCTTTTCATCAAACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAGCAG
GCACAGCTGTTTGGTCTAGAAATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTT
ACACTCTTTGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTC
CGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCA
TTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTC
AGCCAACAGACATTCACTCATGGTGGGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGCAGC
CATTCTCTTCTGCCAAACCAGGTTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTG
ACCTGAACCCACCCCAGGACCCTTACAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGTCTC
CTCTGGCAGCTCTGAGATCAAATCCGATGACGAGGGTGATGAGAACCTGCAAGACACGAAATCT
TCGGAGGACAAGAAATTAGATGACGACAAGAAGGATATCAAATCAATTACTAGCAATAATGACG
ATGAGGACCTGACACCAGAGCAGAAGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGC
CCGAGAGCGTCTGCGGGTCCGTGACATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAG
CTCCACCTCAAGAGTGACAAGCCCCAGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCA
TCCTCAGTCTGGAGCAGCAAGTCCGAGAAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAG
AAGGGAGGAAGAGAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGA
ATGGGAGACGCATCGAATCACATGGGACAGATGTAAAAGGGTCCAAGTTGCCACATTGCTTCAT
TAAAACAAGAGACCACTTCCTTAACAGCTGTATTATCTTAAACCCACATAAACACTTCTCCTTA
ACCCCCATTTTTGTAATATAAGACAAGTCTGAGTAGTTATGAATCGCAGACGCAAGAGGTTTCA
GCATTCCCAATTATCAAAAAACAGAAAAACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGA
CGACTTTCTTTAACATATCATTCAGAATGTGCAAAGCAGTATGTACAGGCTGAGACACAGCCCA
GAGACTGAACGGCAATCTTTCCACACTGTGGAACAATGCATTTGTGCCTAAACTTCTTTTGGAA
AAAAAAAATATAATTAATTTGTAAGTCTGAAAAAAAAATATTTAATTTAAAAAAAATTGTAAAC
TTGCAATAATGAAAAAGTGTACTTCTGAAGAAAACTACATGAACGTTTTTGTTGGTATTCAAGT
CAGCTAGTGTTTATAATTACTGGATATTGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAAAAC
CAGCAAACGTCCTGATGACAACGAAGTGATGACATTAGCCATTCCTTAGGGTAGGAGGAACAGA
TGGATCTTATAGACCTATGACAAATATATATATAAATATATATATAAATATATATTAAAAATTT
AGTGACTATGGTAAGCTTTTGTTCATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGTACT
GATTAACTTTTTTAAAAGAAAGATTTTACTGTAAATATGGATTTTTTTTTTTTTGGTCTTATTT
CTGTCCCTTTCCCTGGTTTGTTATCGTAACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTG
CAGGATGAAATGCTGACCCTGATGTTGCTTCTCATTCATAAATAAGTAGAAAGTTGTTTCTCCA
GTCTTTTGGGAACACAGGACTTAAAAGTCACATCATGTGTAGATATTACAAGCAGCATTACCAA
GACATGGCAAAAAGAGTTTGTCTGAATTGTAATGTTGCGTTTGTGAACCTATTCTGGGATTTTC
AGAGGTACAAGGTTAGAATGCTACAATGTTACCACTGTGCCTTCCAATGTTTATATCATCGGAA
ACATAACATAATCAAAGTGGCTGTGATTTAACAAAATGATTAAAGTGTTACCTACCTGTGTAGC
CGAAGTAGTGTGCAGTGAGGCGTTTCTGAATACATGGTCAGATTTTTGGAAAAAAACAAAAACA
AAAAAAACAAGTAAAGTTCAAAAACCGTCAAATGAGAAAATTGCAAGTAGTGTGACAGAGCTGA
TTGATTTTGTTGCTTTCTTGATTTTTTTTTTCAAAATGGGTTTACTAAAATGTAGATGACTTAA
CTGCCTCCTCCTTCGTCTGAAAAATGCCAATATTCAATCATCATGCAGCATTATAACAAGCCTT
ATAAGTCCTAAAGCATTAAGTTGCACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAG
TATGAATGAAGTTTATACTTACCATATTTGATAGAAACATAGATCAAGCTATGGCACAGCGACT
CATCAGATAGCTAGCTTTGACGTCTGGGCACAATTGAACCAACTTCCATCGTGAATCTTTATAA
TGATTGACTTTGGTGTATAGTGCAGTAAACAAATAGTGCTCCTAGTTAAGTATTTGTCAGCATC
CTTTTGTCTCTAACTTGTTTCTATTTTTACAGCCACACAATTCTTGGCATGTATTAAGAAAAAA
AAAAATCCCTGTTCAAGTAGTTTTTCCACCTATCAGCACTGAGTAAATGCCATAAATCCATTGA
AATGGTCTAAATGTTCCATCTGTTCTCCTGTTTTGCCAGTTATATAGTAATGAAATACATTTGT
AAATTTTATGCAACAAATGGCAAACGTATCATTATTTTGAAATTGTGTATGTAAAAGTTATATT
TTTACATGTAGACTCTTGTTATTATGTGTTTTAATACATTGTATCAGTTTTTGTTTTTTTTTAA
AAACTGTGGTTTAAAAAGAAGTCTCATTTAAATGAAATAGCTACAAGAATCAGAATTTTATGTT
CATTTCTGAAAATGTAAGAACAAATAAGATAGTTACCACGTGGTCATCTTTTACAAACCCATAA
ACATTTTGATTAGCTGTGTGTGTGTTGAAAAACTGTAAATATGTTCAGTAGCGATAAAACTAAA
ATAACTTTGATTTGTTGATAAGTTCCTAAAATGTGGAGGTGGATTAAAACCTTAGGAGAATAGC
AGAAATCAAACTTCATGAAAAGTTATTTTGGGGCTTTCCTGTGAAATGTATGAACAAAGAGGCT
CAGAGAAGGACATGGAAGACAATAATGTATACTCTCTCCTCCTCCCTGAATAATGAAAACCATG
TGTATTTGTTCCCTCCGTATGTTAAAGATTTCCTTTTAGTGGTACATTCTGCACTCATTTTGTA
TAGTCTACCAAGGCGGGTATCCCTAGGAACAATATTATATAGGAAGCAGGTATACTCTGATCAC
ATTCAGGATAAGTGTACAGAAGAAAATACGGTGTTTACTCTTTAGGGAACTGGAAACACTCCCT
GCATTGATGTACATTTTAAGAATGGCACTTTTGATACATGTTATCATAAAGGTGCTTAATAGAG
CTGAATTAAAGTTTTTCAAATCTGTAAACAAAGCAAAAAAGTAAATTGTAGTCATTTGATTATT
TTTTAAATTGGTGCTTTATATTTTGTTCTCACTCAGAGTAAAAGCTGCAATTTATTGTTCACCA
GCTTTGATGTATTCATTACTCAGTAATGCAATACCTCTATTGTTGAATTCCCTTTGGAAATAAG
TGAAAATTCTAACGGCCACTGAAAGCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACATAATCTG
CACCTATCCATATTAATTGGGTTGTATCCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTT
TAGTGTGTTTTTTATTGTTGTTGTTTTGTAATTATCAAACCCAGGTAAGATATTGGTATCCTGC
ACTGGATTTTCAAATGAAGTTCAGCAGAAGACAGTTAAGATTAAAGTACTATACAAAAATTTCA
AAAGGGTCCATACTACGCTATCTGTATGACGACACTTAGGCTGGGGATCTCTTTCAGAAACTCG
GACTTTAAAAGCAACTTGGAGCAGTTGATCCACCTCCACATTCAAGTAATTTATGAATATGCAG
AATAGGGATCTGTTCATCTAGAAATTTTTACCATTTGTCTTCTGTGTAGCTGCAAGGAACACTA
ATGTTTATACAACTGTCAGTCCACCCAGTGGTGCAACTGGTTCTGATTCAGTCTTCCGATTCCT
TTTTATTTTTCACTTTTTCCTATTTCTGAATTTTTTTTTTTATTTGTGATCTTGATTTTGATGA
GGGGTTGGGGAGTGGGGAGGGAGTCGAACCAAGACTTGGAGTTAAGAGGATTTTCATCTTTTGC
ATCCAACAGGCAGAATATGATCTGTGTCCAAAAGTGAACTTGAGTCAGGAATGAATCAATTTCA
GCATAAACAAGCACAAAAATTTAGTCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGAATA
TGATGAATTCCAACACAATGGGGCACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTT
TTGTTTGTTTTTCTTTAGAGACATGCTCTTTCTCATGGGACTTGAAGTGGACTCATCTTTGTGC
AGTGCTGGTTTTGCCATACTCATTTCAAGTATTATAGACATATGTAATGGTGAAAATATATGAA
CTGTGGCCTTTTTCATTCTTGTTACTTGTGATGCAATTAAGTGAAGATAAGAAAAAAAAAAAAA
AAGCAGAGATTTACCATGTATCAGTGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCT
CTTTTGCTATAAAATAGACTGTAGTACACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAAAAT
AAAAAATATATTTGGCTTATTTTTCGCAGGAGCAATCCTTTTATACCATGAATATTACAAAAAA
ATTGTCAGATTCTGAATATTTCTTCTTTGTAGATTTTTGGAATCATTATGAGTAAAAGTTTGTT
ACTTTATTTTACTATTTAAAAGATGTTATTTTACCATGTGTTACCAAGATGAAACTGTATGGGT
AGCTTTTTTGTTTGTTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAG
CGGGGAAATTTTTTGCGACTGTACACATAGCTGCAGCATTAAAAACTTAAAAAAATTGTTAAAA
AAAAAAAAAGGGAAAACATTTCAAAAAAAAAAAAAAAGATAAACAGTTACACCTTGTTTTCAAT
GTGTGGCTGAGTGCCTCGATTTTTTCATGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTCCAA
ACAGGTTGTGTGCTGGAGTTCCTTCAAGACAAAAACAAACCCAGCTTGGTCAAGGCCATTACCT
GTTTCCCATCTGTAGTTATTCGATGAAGTCATGTACATGACCGTTCTGTAGCAATAAATGTGCC
ATTTTTATAAACTGTTTCTGACACTTGTTTCATTTCATTTTGCATTGTCCATATAGCTATGATT
CTCTTCTGTAAGTAAAACGCATCTATATTTCATTTTCCAAGTGTTGGAGGTATTGACAGCTTAA
CAAACAAAACATACAAAAAAAATCACAAAAACAAATTGAAAAGCAAAGCACATGATTGATCAAG
GAAGAGATGCCCTTAATGAAAATGGAACGGGATGCATGCAAAACAAAAAGAAAACTGTCTAGAG
GATTAACTAATTGAAGGAATATAATTAATGTGTGTGTAACACTGAAGCTATGCATTTGAAGAGC
TCTGAACTGCACCAGTGTTTTCGGTTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTT
TGCACCAGTTGGTCGGCTGTTTGGCAGAACATTCTCAGATCTTTTCAGTCAAAAATCTAAGATG
ATTTATTTTGTATCACTTTGTTAAAAGCTGAATATTGTTAACTACAGTTAATATTAACACTGTA
TTTATACTTTCTCAAACTACATCCGCCCCACCACTTCTGGTTGCCTCTGTTGACTATTAATCCA
GATGTAAACAACCAGATGTTTTTTTCTAACTTGTACAAACTGACGTGTGTCAACTATCATGGAA
GGAAAAAAATGTACAGATTAAAATTATTCAGTGTTATGTACTGTAAGTTAATATTTTTGTAGAA
TGGACATCAATCTACTTTGCAAAATTTGGAGGCTATTTCAACATTGCACTGTAGAAATGTAAAG
TAATGTATGCAATGTAAAGGAAAGCCCGCGGTAGCTGAGCGCTTCATAACAGAATGTTCTAATC
AAGTACGTGGTATTTGGGGATGTCTCCAATATTGCTCTTGTATTCTTTCTAATTGGGTTTAGTG
ACTAGTTGAAGGAAAATGTTATAACGCCATTTGGTTCACATGTGAAGTGCCCTCCATAGCCAAA
TGTTGGGATTTTTTTTTTTTTCGTTTTTGGTTGGACTGTTTGCAGATATTTAAATTTTATGAAA
TTTCCAAAGATTTTGGTTGATAACCCCCTTTTACCTTCTAAATGATTTGAGATGTTCTTATGTT
CTTACTGTGTGTTTTAAATATATATAAAAGAGCCACAAGCATTTAGTCTTTTAGTATTATATTT
GATCATATAACTACTACTGAAAAGGGGTGGGGGGGAATGTGCCTGTGCACCCCTACAGTATCTT
GTGTAGTGTCTATTAACATTGTTCTCTTTTAGAGGACCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_001369586 ⟹ NP_001356515

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,589,811 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,792,862 (-)	NCBI

Sequence:

show sequence

CTCTTTATAAGCCCGCAGTTCCCGGATGTGAATGGATTACAATGTATCTTTCAGGGAAACCTAT
TATTATCAATGTGACTCCACGGGGGAGTCCATGGTGATGATGATGAGGAGGAGGATGATGATGA
TGAGACACCTCTAAACTTGGAACAAGTTTAAGACTTTATGAGAGAAGAAAAAAAATCACCAACA
AGAATTGTTTGAGGAAAAATTATAACTATCCTGTGTTCATTTTTTTTTTTATAAACAATAAGAA
AAAGTTGTTGGATTTTTTTTTAATGATTTCTTTTTTGGGGGAGGGAATTTTGTTGCAGTTTTAT
GGTGGAAAATGCAAAAACCAGAGCCAGGTGCATAATCTTGTAATCTGTGGATATCCCTGGAGCA
GGACTGAGTACCAGTTAAAATACTTTTTGGGGATACACATGTGAGATACTAAGTACTTGCAGAA
GATTTTTGTCTCTCTTTTTAAAGTCTCTTTCCTTGGAATATTGTGAGAATATTTGTGGCCATTT
AAGATGTTTTCACCTCCTGTGAGCAGTGGGAAAAATGGACCAACTTCTTTGGCAAGTGGACATT
TTACTGGCTCAAATGTAGAAGACAGAAGTAGCTCAGGGTCCTGGGGGAATGGAGGACATCCAAG
CCCGTCCAGGAACTATGGAGATGGGACTCCCTATGACCACATGACCAGCAGGGACCTTGGGTCA
CATGACAATCTCTCTCCACCTTTTGTCAATTCCAGAATACAAAGTAAAACAGAAAGGGGCTCAT
ACTCATCTTATGGGAGAGAATCAAACTTACAGGGTTGCCACCAGCAGAGTCTCCTTGGAGGTGA
CATGGATATGGGCAACCCAGGAACCCTTTCGCCCACCAAACCTGGTTCCCAGTACTATCAGTAT
TCTAGCAATAATCCCCGAAGGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGACAAAGAAAG
TTCGAAAAGTTCCTCCAGGTTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCACTGCCGACTA
CAATAGGGACTCGCCAGGCTATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCTAGCTCCTTC
TTCATGCAAGATGGCCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTG
GCTATGCAGGAATGTTGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCA
TCCACATGAACGTTTGAGCTATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCG
ATGTCCACTTTCCATCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCCA
ACGGGACAGACAGTATAATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCAGACTGGAGA
TGCTCTGGGGAAAGCACTTGCTTCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATCA
AACCCTTCAACTCCTGTTGGCTCTCCTCCATCTCTCTCAGGTACAGGCACAGCTGTTTGGTCTA
GAAATGGAGGACAGGCCTCATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCG
AATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGC
CCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATG
GAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACT
CATGGTGGGGACCCATCGTGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTGCCAAAC
CAGGTTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCACCCCAGG
ACCCTTACAGAGGCATGCCACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTCTGAGAT
CAAATCCGATGACGAGGGTGATGAGAACCTGCAAGACACGAAATCTTCGGAGGACAAGAAATTA
GATGACGACAAGAAGGATATCAAATCAATTACTAGGTCAAGATCTAGCAATAATGACGATGAGG
ACCTGACACCAGAGCAGAAGGCAGAGCGTGAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGA
GCGTCTGCGGGTCCGTGACATCAACGAGGCTTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCAC
CTCAAGAGTGACAAGCCCCAGACCAAGCTCCTGATCCTCCACCAGGCGGTGGCCGTCATCCTCA
GTCTGGAGCAGCAAGTCCGAGAAAGGAATCTGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGA
GGAAGAGAAGGTGTCCTCAGAGCCTCCCCCTCTCTCCTTGGCCGGCCCACACCCTGGAATGGGA
GACGCATCGAATCACATGGGACAGATGTAAAAGGGTCCAAGTTGCCACATTGCTTCATTAAAAC
AAGAGACCACTTCCTTAACAGCTGTATTATCTTAAACCCACATAAACACTTCTCCTTAACCCCC
ATTTTTGTAATATAAGACAAGTCTGAGTAGTTATGAATCGCAGACGCAAGAGGTTTCAGCATTC
CCAATTATCAAAAAACAGAAAAACAAAAAAAAGAAAGAAAAAAGTGCAACTTGAGGGACGACTT
TCTTTAACATATCATTCAGAATGTGCAAAGCAGTATGTACAGGCTGAGACACAGCCCAGAGACT
GAACGGCAATCTTTCCACACTGTGGAACAATGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAA
AATATAATTAATTTGTAAGTCTGAAAAAAAAATATTTAATTTAAAAAAAATTGTAAACTTGCAA
TAATGAAAAAGTGTACTTCTGAAGAAAACTACATGAACGTTTTTGTTGGTATTCAAGTCAGCTA
GTGTTTATAATTACTGGATATTGAATTAGGGGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAA
ACGTCCTGATGACAACGAAGTGATGACATTAGCCATTCCTTAGGGTAGGAGGAACAGATGGATC
TTATAGACCTATGACAAATATATATATAAATATATATATAAATATATATTAAAAATTTAGTGAC
TATGGTAAGCTTTTGTTCATTTGTTTCAGACTTTTTTCTCCTGTAAAAAAATAGTACTGATTAA
CTTTTTTAAAAGAAAGATTTTACTGTAAATATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCC
CTTTCCCTGGTTTGTTATCGTAACCTGTAGTGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGAT
GAAATGCTGACCCTGATGTTGCTTCTCATTCATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTT
TGGGAACACAGGACTTAAAAGTCACATCATGTGTAGATATTACAAGCAGCATTACCAAGACATG
GCAAAAAGAGTTTGTCTGAATTGTAATGTTGCGTTTGTGAACCTATTCTGGGATTTTCAGAGGT
ACAAGGTTAGAATGCTACAATGTTACCACTGTGCCTTCCAATGTTTATATCATCGGAAACATAA
CATAATCAAAGTGGCTGTGATTTAACAAAATGATTAAAGTGTTACCTACCTGTGTAGCCGAAGT
AGTGTGCAGTGAGGCGTTTCTGAATACATGGTCAGATTTTTGGAAAAAAACAAAAACAAAAAAA
ACAAGTAAAGTTCAAAAACCGTCAAATGAGAAAATTGCAAGTAGTGTGACAGAGCTGATTGATT
TTGTTGCTTTCTTGATTTTTTTTTTCAAAATGGGTTTACTAAAATGTAGATGACTTAACTGCCT
CCTCCTTCGTCTGAAAAATGCCAATATTCAATCATCATGCAGCATTATAACAAGCCTTATAAGT
CCTAAAGCATTAAGTTGCACTTTTTTGAGGAGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAA
TGAAGTTTATACTTACCATATTTGATAGAAACATAGATCAAGCTATGGCACAGCGACTCATCAG
ATAGCTAGCTTTGACGTCTGGGCACAATTGAACCAACTTCCATCGTGAATCTTTATAATGATTG
ACTTTGGTGTATAGTGCAGTAAACAAATAGTGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTG
TCTCTAACTTGTTTCTATTTTTACAGCCACACAATTCTTGGCATGTATTAAGAAAAAAAAAAAT
CCCTGTTCAAGTAGTTTTTCCACCTATCAGCACTGAGTAAATGCCATAAATCCATTGAAATGGT
CTAAATGTTCCATCTGTTCTCCTGTTTTGCCAGTTATATAGTAATGAAATACATTTGTAAATTT
TATGCAACAAATGGCAAACGTATCATTATTTTGAAATTGTGTATGTAAAAGTTATATTTTTACA
TGTAGACTCTTGTTATTATGTGTTTTAATACATTGTATCAGTTTTTGTTTTTTTTTAAAAACTG
TGGTTTAAAAAGAAGTCTCATTTAAATGAAATAGCTACAAGAATCAGAATTTTATGTTCATTTC
TGAAAATGTAAGAACAAATAAGATAGTTACCACGTGGTCATCTTTTACAAACCCATAAACATTT
TGATTAGCTGTGTGTGTGTTGAAAAACTGTAAATATGTTCAGTAGCGATAAAACTAAAATAACT
TTGATTTGTTGATAAGTTCCTAAAATGTGGAGGTGGATTAAAACCTTAGGAGAATAGCAGAAAT
CAAACTTCATGAAAAGTTATTTTGGGGCTTTCCTGTGAAATGTATGAACAAAGAGGCTCAGAGA
AGGACATGGAAGACAATAATGTATACTCTCTCCTCCTCCCTGAATAATGAAAACCATGTGTATT
TGTTCCCTCCGTATGTTAAAGATTTCCTTTTAGTGGTACATTCTGCACTCATTTTGTATAGTCT
ACCAAGGCGGGTATCCCTAGGAACAATATTATATAGGAAGCAGGTATACTCTGATCACATTCAG
GATAAGTGTACAGAAGAAAATACGGTGTTTACTCTTTAGGGAACTGGAAACACTCCCTGCATTG
ATGTACATTTTAAGAATGGCACTTTTGATACATGTTATCATAAAGGTGCTTAATAGAGCTGAAT
TAAAGTTTTTCAAATCTGTAAACAAAGCAAAAAAGTAAATTGTAGTCATTTGATTATTTTTTAA
ATTGGTGCTTTATATTTTGTTCTCACTCAGAGTAAAAGCTGCAATTTATTGTTCACCAGCTTTG
ATGTATTCATTACTCAGTAATGCAATACCTCTATTGTTGAATTCCCTTTGGAAATAAGTGAAAA
TTCTAACGGCCACTGAAAGCTGCTCGCTAGGTTTTGCTTGGTGGAGAAACATAATCTGCACCTA
TCCATATTAATTGGGTTGTATCCCCATTAAAAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGT
GTTTTTTATTGTTGTTGTTTTGTAATTATCAAACCCAGGTAAGATATTGGTATCCTGCACTGGA
TTTTCAAATGAAGTTCAGCAGAAGACAGTTAAGATTAAAGTACTATACAAAAATTTCAAAAGGG
TCCATACTACGCTATCTGTATGACGACACTTAGGCTGGGGATCTCTTTCAGAAACTCGGACTTT
AAAAGCAACTTGGAGCAGTTGATCCACCTCCACATTCAAGTAATTTATGAATATGCAGAATAGG
GATCTGTTCATCTAGAAATTTTTACCATTTGTCTTCTGTGTAGCTGCAAGGAACACTAATGTTT
ATACAACTGTCAGTCCACCCAGTGGTGCAACTGGTTCTGATTCAGTCTTCCGATTCCTTTTTAT
TTTTCACTTTTTCCTATTTCTGAATTTTTTTTTTTATTTGTGATCTTGATTTTGATGAGGGGTT
GGGGAGTGGGGAGGGAGTCGAACCAAGACTTGGAGTTAAGAGGATTTTCATCTTTTGCATCCAA
CAGGCAGAATATGATCTGTGTCCAAAAGTGAACTTGAGTCAGGAATGAATCAATTTCAGCATAA
ACAAGCACAAAAATTTAGTCTGCTGGCTGACTGGAAGCAAAAAAGTCAAGATGGAATATGATGA
ATTCCAACACAATGGGGCACCAAGGCCTTTAGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTT
GTTTTTCTTTAGAGACATGCTCTTTCTCATGGGACTTGAAGTGGACTCATCTTTGTGCAGTGCT
GGTTTTGCCATACTCATTTCAAGTATTATAGACATATGTAATGGTGAAAATATATGAACTGTGG
CCTTTTTCATTCTTGTTACTTGTGATGCAATTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAG
AGATTTACCATGTATCAGTGCCTGGCTTTTTGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTG
CTATAAAATAGACTGTAGTACACCCTAGTAGGAAAAAAAAAAAACTAAATTTAAAAATAAAAAA
TATATTTGGCTTATTTTTCGCAGGAGCAATCCTTTTATACCATGAATATTACAAAAAAATTGTC
AGATTCTGAATATTTCTTCTTTGTAGATTTTTGGAATCATTATGAGTAAAAGTTTGTTACTTTA
TTTTACTATTTAAAAGATGTTATTTTACCATGTGTTACCAAGATGAAACTGTATGGGTAGCTTT
TTTGTTTGTTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGA
AATTTTTTGCGACTGTACACATAGCTGCAGCATTAAAAACTTAAAAAAATTGTTAAAAAAAAAA
AAAGGGAAAACATTTCAAAAAAAAAAAAAAAGATAAACAGTTACACCTTGTTTTCAATGTGTGG
CTGAGTGCCTCGATTTTTTCATGTTTTTGGTGTATTTCTGATTTGTAGAAGTGTCCAAACAGGT
TGTGTGCTGGAGTTCCTTCAAGACAAAAACAAACCCAGCTTGGTCAAGGCCATTACCTGTTTCC
CATCTGTAGTTATTCGATGAAGTCATGTACATGACCGTTCTGTAGCAATAAATGTGCCATTTTT
ATAAACTGTTTCTGACACTTGTTTCATTTCATTTTGCATTGTCCATATAGCTATGATTCTCTTC
TGTAAGTAAAACGCATCTATATTTCATTTTCCAAGTGTTGGAGGTATTGACAGCTTAACAAACA
AAACATACAAAAAAAATCACAAAAACAAATTGAAAAGCAAAGCACATGATTGATCAAGGAAGAG
ATGCCCTTAATGAAAATGGAACGGGATGCATGCAAAACAAAAAGAAAACTGTCTAGAGGATTAA
CTAATTGAAGGAATATAATTAATGTGTGTGTAACACTGAAGCTATGCATTTGAAGAGCTCTGAA
CTGCACCAGTGTTTTCGGTTGTGCTGCAGGTTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACC
AGTTGGTCGGCTGTTTGGCAGAACATTCTCAGATCTTTTCAGTCAAAAATCTAAGATGATTTAT
TTTGTATCACTTTGTTAAAAGCTGAATATTGTTAACTACAGTTAATATTAACACTGTATTTATA
CTTTCTCAAACTACATCCGCCCCACCACTTCTGGTTGCCTCTGTTGACTATTAATCCAGATGTA
AACAACCAGATGTTTTTTTCTAACTTGTACAAACTGACGTGTGTCAACTATCATGGAAGGAAAA
AAATGTACAGATTAAAATTATTCAGTGTTATGTACTGTAAGTTAATATTTTTGTAGAATGGACA
TCAATCTACTTTGCAAAATTTGGAGGCTATTTCAACATTGCACTGTAGAAATGTAAAGTAATGT
ATGCAATGTAAAGGAAAGCCCGCGGTAGCTGAGCGCTTCATAACAGAATGTTCTAATCAAGTAC
GTGGTATTTGGGGATGTCTCCAATATTGCTCTTGTATTCTTTCTAATTGGGTTTAGTGACTAGT
TGAAGGAAAATGTTATAACGCCATTTGGTTCACATGTGAAGTGCCCTCCATAGCCAAATGTTGG
GATTTTTTTTTTTTTCGTTTTTGGTTGGACTGTTTGCAGATATTTAAATTTTATGAAATTTCCA
AAGATTTTGGTTGATAACCCCCTTTTACCTTCTAAATGATTTGAGATGTTCTTATGTTCTTACT
GTGTGTTTTAAATATATATAAAAGAGCCACAAGCATTTAGTCTTTTAGTATTATATTTGATCAT
ATAACTACTACTGAAAAGGGGTGGGGGGGAATGTGCCTGTGCACCCCTACAGTATCTTGTGTAG
TGTCTATTAACATTGTTCTCTTTTAGAGGACCACATTAAAAGGTACATTAATCTTA

hide sequence

RefSeq Acc Id:

NM_003199 ⟹ NP_003190

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,222,185 - 55,588,192 (-)	NCBI
GRCh37	18	52,889,562 - 53,303,252 (-)	NCBI
Build 36	18	51,040,560 - 51,406,858 (-)	NCBI Archive
HuRef	18	49,599,225 - 50,013,477 (-)	NCBI
CHM1_1	18	52,884,825 - 53,251,090 (-)	NCBI
T2T-CHM13v2.0	18	55,425,274 - 55,791,244 (-)	NCBI

Sequence:

show sequence

GCGGATCTGTAGTGGCGGCGGCGGCGGCGGCGGCGGGGAGGCAGCAGGCGCGGGAGCGGGCGCA
GGAGCAGGCGGCGGCGGTGGCGGCGGCGGTTAGACATGAACGCCGCCTCGGCGCCGGCGGTGCA
CGGAGAGCCCCTTCTCGCGCGCGGGCGGTTTGTGTGATTTTGCTAAAATGCATCACCAACAGCG
AATGGCTGCCTTAGGGACGGACAAAGAGCTGAGTGATTTACTGGATTTCAGTGCGATGTTTTCA
CCTCCTGTGAGCAGTGGGAAAAATGGACCAACTTCTTTGGCAAGTGGACATTTTACTGGCTCAA
ATGTAGAAGACAGAAGTAGCTCAGGGTCCTGGGGGAATGGAGGACATCCAAGCCCGTCCAGGAA
CTATGGAGATGGGACTCCCTATGACCACATGACCAGCAGGGACCTTGGGTCACATGACAATCTC
TCTCCACCTTTTGTCAATTCCAGAATACAAAGTAAAACAGAAAGGGGCTCATACTCATCTTATG
GGAGAGAATCAAACTTACAGGGTTGCCACCAGCAGAGTCTCCTTGGAGGTGACATGGATATGGG
CAACCCAGGAACCCTTTCGCCCACCAAACCTGGTTCCCAGTACTATCAGTATTCTAGCAATAAT
CCCCGAAGGAGGCCTCTTCACAGTAGTGCCATGGAGGTACAGACAAAGAAAGTTCGAAAAGTTC
CTCCAGGTTTGCCATCTTCAGTCTATGCTCCATCAGCAAGCACTGCCGACTACAATAGGGACTC
GCCAGGCTATCCTTCCTCCAAACCAGCAACCAGCACTTTCCCTAGCTCCTTCTTCATGCAAGAT
GGCCATCACAGCAGTGACCCTTGGAGCTCCTCCAGTGGGATGAATCAGCCTGGCTATGCAGGAA
TGTTGGGCAACTCTTCTCATATTCCACAGTCCAGCAGCTACTGTAGCCTGCATCCACATGAACG
TTTGAGCTATCCATCACACTCCTCAGCAGACATCAATTCCAGTCTTCCTCCGATGTCCACTTTC
CATCGTAGTGGTACAAACCATTACAGCACCTCTTCCTGTACGCCTCCTGCCAACGGGACAGACA
GTATAATGGCAAATAGAGGAAGCGGGGCAGCCGGCAGCTCCCAGACTGGAGATGCTCTGGGGAA
AGCACTTGCTTCGATCTATTCTCCAGATCACACTAACAACAGCTTTTCATCAAACCCTTCAACT
CCTGTTGGCTCTCCTCCATCTCTCTCAGCAGGCACAGCTGTTTGGTCTAGAAATGGAGGACAGG
CCTCATCGTCTCCTAATTATGAAGGACCCTTACACTCTTTGCAAAGCCGAATTGAAGATCGTTT
AGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATG
CCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTC
TGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTGGGGACCCA
TCGTGAAGATGGCGTGGCCCTGAGAGGCAGCCATTCTCTTCTGCCAAACCAGGTTCCGGTTCCA
CAGCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAACCCACCCCAGGACCCTTACAGAGGCA
TGCCACCAGGACTACAGGGGCAGAGTGTCTCCTCTGGCAGCTCTGAGATCAAATCCGATGACGA
GGGTGATGAGAACCTGCAAGACACGAAATCTTCGGAGGACAAGAAATTAGATGACGACAAGAAG
GATATCAAATCAATTACTAGCAATAATGACGATGAGGACCTGACACCAGAGCAGAAGGCAGAGC
GTGAGAAGGAGCGGAGGATGGCCAACAATGCCCGAGAGCGTCTGCGGGTCCGTGACATCAACGA
GGCTTTCAAAGAGCTCGGCCGCATGGTGCAGCTCCACCTCAAGAGTGACAAGCCCCAGACCAAG
CTCCTGATCCTCCACCAGGCGGTGGCCGTCATCCTCAGTCTGGAGCAGCAAGTCCGAGAAAGGA
ATCTGAATCCGAAAGCTGCGTGTCTGAAAAGAAGGGAGGAAGAGAAGGTGTCCTCAGAGCCTCC
CCCTCTCTCCTTGGCCGGCCCACACCCTGGAATGGGAGACGCATCGAATCACATGGGACAGATG
TAAAAGGGTCCAAGTTGCCACATTGCTTCATTAAAACAAGAGACCACTTCCTTAACAGCTGTAT
TATCTTAAACCCACATAAACACTTCTCCTTAACCCCCATTTTTGTAATATAAGACAAGTCTGAG
TAGTTATGAATCGCAGACGCAAGAGGTTTCAGCATTCCCAATTATCAAAAAACAGAAAAACAAA
AAAAAGAAAGAAAAAAGTGCAACTTGAGGGACGACTTTCTTTAACATATCATTCAGAATGTGCA
AAGCAGTATGTACAGGCTGAGACACAGCCCAGAGACTGAACGGCAATCTTTCCACACTGTGGAA
CAATGCATTTGTGCCTAAACTTCTTTTGGAAAAAAAAAATATAATTAATTTGTAAGTCTGAAAA
AAAAATATTTAATTTAAAAAAAATTGTAAACTTGCAATAATGAAAAAGTGTACTTCTGAAGAAA
ACTACATGAACGTTTTTGTTGGTATTCAAGTCAGCTAGTGTTTATAATTACTGGATATTGAATT
AGGGGAAGCTCGGCTGCCCTAGTAACAAAACCAGCAAACGTCCTGATGACAACGAAGTGATGAC
ATTAGCCATTCCTTAGGGTAGGAGGAACAGATGGATCTTATAGACCTATGACAAATATATATAT
AAATATATATATAAATATATATTAAAAATTTAGTGACTATGGTAAGCTTTTGTTCATTTGTTTC
AGACTTTTTTCTCCTGTAAAAAAATAGTACTGATTAACTTTTTTAAAAGAAAGATTTTACTGTA
AATATGGATTTTTTTTTTTTTGGTCTTATTTCTGTCCCTTTCCCTGGTTTGTTATCGTAACCTG
TAGTGCCAACTCTGCTTCCAGAGGGGTAGTGCAGGATGAAATGCTGACCCTGATGTTGCTTCTC
ATTCATAAATAAGTAGAAAGTTGTTTCTCCAGTCTTTTGGGAACACAGGACTTAAAAGTCACAT
CATGTGTAGATATTACAAGCAGCATTACCAAGACATGGCAAAAAGAGTTTGTCTGAATTGTAAT
GTTGCGTTTGTGAACCTATTCTGGGATTTTCAGAGGTACAAGGTTAGAATGCTACAATGTTACC
ACTGTGCCTTCCAATGTTTATATCATCGGAAACATAACATAATCAAAGTGGCTGTGATTTAACA
AAATGATTAAAGTGTTACCTACCTGTGTAGCCGAAGTAGTGTGCAGTGAGGCGTTTCTGAATAC
ATGGTCAGATTTTTGGAAAAAAACAAAAACAAAAAAAACAAGTAAAGTTCAAAAACCGTCAAAT
GAGAAAATTGCAAGTAGTGTGACAGAGCTGATTGATTTTGTTGCTTTCTTGATTTTTTTTTTCA
AAATGGGTTTACTAAAATGTAGATGACTTAACTGCCTCCTCCTTCGTCTGAAAAATGCCAATAT
TCAATCATCATGCAGCATTATAACAAGCCTTATAAGTCCTAAAGCATTAAGTTGCACTTTTTTG
AGGAGGGGTAGTGCAGTATTTCTCTGGCCAGTATGAATGAAGTTTATACTTACCATATTTGATA
GAAACATAGATCAAGCTATGGCACAGCGACTCATCAGATAGCTAGCTTTGACGTCTGGGCACAA
TTGAACCAACTTCCATCGTGAATCTTTATAATGATTGACTTTGGTGTATAGTGCAGTAAACAAA
TAGTGCTCCTAGTTAAGTATTTGTCAGCATCCTTTTGTCTCTAACTTGTTTCTATTTTTACAGC
CACACAATTCTTGGCATGTATTAAGAAAAAAAAAAATCCCTGTTCAAGTAGTTTTTCCACCTAT
CAGCACTGAGTAAATGCCATAAATCCATTGAAATGGTCTAAATGTTCCATCTGTTCTCCTGTTT
TGCCAGTTATATAGTAATGAAATACATTTGTAAATTTTATGCAACAAATGGCAAACGTATCATT
ATTTTGAAATTGTGTATGTAAAAGTTATATTTTTACATGTAGACTCTTGTTATTATGTGTTTTA
ATACATTGTATCAGTTTTTGTTTTTTTTTAAAAACTGTGGTTTAAAAAGAAGTCTCATTTAAAT
GAAATAGCTACAAGAATCAGAATTTTATGTTCATTTCTGAAAATGTAAGAACAAATAAGATAGT
TACCACGTGGTCATCTTTTACAAACCCATAAACATTTTGATTAGCTGTGTGTGTGTTGAAAAAC
TGTAAATATGTTCAGTAGCGATAAAACTAAAATAACTTTGATTTGTTGATAAGTTCCTAAAATG
TGGAGGTGGATTAAAACCTTAGGAGAATAGCAGAAATCAAACTTCATGAAAAGTTATTTTGGGG
CTTTCCTGTGAAATGTATGAACAAAGAGGCTCAGAGAAGGACATGGAAGACAATAATGTATACT
CTCTCCTCCTCCCTGAATAATGAAAACCATGTGTATTTGTTCCCTCCGTATGTTAAAGATTTCC
TTTTAGTGGTACATTCTGCACTCATTTTGTATAGTCTACCAAGGCGGGTATCCCTAGGAACAAT
ATTATATAGGAAGCAGGTATACTCTGATCACATTCAGGATAAGTGTACAGAAGAAAATACGGTG
TTTACTCTTTAGGGAACTGGAAACACTCCCTGCATTGATGTACATTTTAAGAATGGCACTTTTG
ATACATGTTATCATAAAGGTGCTTAATAGAGCTGAATTAAAGTTTTTCAAATCTGTAAACAAAG
CAAAAAAGTAAATTGTAGTCATTTGATTATTTTTTAAATTGGTGCTTTATATTTTGTTCTCACT
CAGAGTAAAAGCTGCAATTTATTGTTCACCAGCTTTGATGTATTCATTACTCAGTAATGCAATA
CCTCTATTGTTGAATTCCCTTTGGAAATAAGTGAAAATTCTAACGGCCACTGAAAGCTGCTCGC
TAGGTTTTGCTTGGTGGAGAAACATAATCTGCACCTATCCATATTAATTGGGTTGTATCCCCAT
TAAAAAAGAAAAAAAGGGAATGTGGCCTTTTTAGTGTGTTTTTTATTGTTGTTGTTTTGTAATT
ATCAAACCCAGGTAAGATATTGGTATCCTGCACTGGATTTTCAAATGAAGTTCAGCAGAAGACA
GTTAAGATTAAAGTACTATACAAAAATTTCAAAAGGGTCCATACTACGCTATCTGTATGACGAC
ACTTAGGCTGGGGATCTCTTTCAGAAACTCGGACTTTAAAAGCAACTTGGAGCAGTTGATCCAC
CTCCACATTCAAGTAATTTATGAATATGCAGAATAGGGATCTGTTCATCTAGAAATTTTTACCA
TTTGTCTTCTGTGTAGCTGCAAGGAACACTAATGTTTATACAACTGTCAGTCCACCCAGTGGTG
CAACTGGTTCTGATTCAGTCTTCCGATTCCTTTTTATTTTTCACTTTTTCCTATTTCTGAATTT
TTTTTTTTATTTGTGATCTTGATTTTGATGAGGGGTTGGGGAGTGGGGAGGGAGTCGAACCAAG
ACTTGGAGTTAAGAGGATTTTCATCTTTTGCATCCAACAGGCAGAATATGATCTGTGTCCAAAA
GTGAACTTGAGTCAGGAATGAATCAATTTCAGCATAAACAAGCACAAAAATTTAGTCTGCTGGC
TGACTGGAAGCAAAAAAGTCAAGATGGAATATGATGAATTCCAACACAATGGGGCACCAAGGCC
TTTAGGCCTCTCTTTTTATTTTGCTTTGGTTTTGTTTGTTTTTCTTTAGAGACATGCTCTTTCT
CATGGGACTTGAAGTGGACTCATCTTTGTGCAGTGCTGGTTTTGCCATACTCATTTCAAGTATT
ATAGACATATGTAATGGTGAAAATATATGAACTGTGGCCTTTTTCATTCTTGTTACTTGTGATG
CAATTAAGTGAAGATAAGAAAAAAAAAAAAAAAGCAGAGATTTACCATGTATCAGTGCCTGGCT
TTTTGTTATAAAGCTTTGTTTGTCTAGTGCTCTTTTGCTATAAAATAGACTGTAGTACACCCTA
GTAGGAAAAAAAAAAAACTAAATTTAAAAATAAAAAATATATTTGGCTTATTTTTCGCAGGAGC
AATCCTTTTATACCATGAATATTACAAAAAAATTGTCAGATTCTGAATATTTCTTCTTTGTAGA
TTTTTGGAATCATTATGAGTAAAAGTTTGTTACTTTATTTTACTATTTAAAAGATGTTATTTTA
CCATGTGTTACCAAGATGAAACTGTATGGGTAGCTTTTTTGTTTGTTTTTTGTTTTGTTTTTGT
TTTTGTTTTTGTTTTTAGTTGTAGGTCGCAGCGGGGAAATTTTTTGCGACTGTACACATAGCTG
CAGCATTAAAAACTTAAAAAAATTGTTAAAAAAAAAAAAAGGGAAAACATTTCAAAAAAAAAAA
AAAAGATAAACAGTTACACCTTGTTTTCAATGTGTGGCTGAGTGCCTCGATTTTTTCATGTTTT
TGGTGTATTTCTGATTTGTAGAAGTGTCCAAACAGGTTGTGTGCTGGAGTTCCTTCAAGACAAA
AACAAACCCAGCTTGGTCAAGGCCATTACCTGTTTCCCATCTGTAGTTATTCGATGAAGTCATG
TACATGACCGTTCTGTAGCAATAAATGTGCCATTTTTATAAACTGTTTCTGACACTTGTTTCAT
TTCATTTTGCATTGTCCATATAGCTATGATTCTCTTCTGTAAGTAAAACGCATCTATATTTCAT
TTTCCAAGTGTTGGAGGTATTGACAGCTTAACAAACAAAACATACAAAAAAAATCACAAAAACA
AATTGAAAAGCAAAGCACATGATTGATCAAGGAAGAGATGCCCTTAATGAAAATGGAACGGGAT
GCATGCAAAACAAAAAGAAAACTGTCTAGAGGATTAACTAATTGAAGGAATATAATTAATGTGT
GTGTAACACTGAAGCTATGCATTTGAAGAGCTCTGAACTGCACCAGTGTTTTCGGTTGTGCTGC
AGGTTGCTAAGTCAAGTCAGCCTTAACCTTTTGCACCAGTTGGTCGGCTGTTTGGCAGAACATT
CTCAGATCTTTTCAGTCAAAAATCTAAGATGATTTATTTTGTATCACTTTGTTAAAAGCTGAAT
ATTGTTAACTACAGTTAATATTAACACTGTATTTATACTTTCTCAAACTACATCCGCCCCACCA
CTTCTGGTTGCCTCTGTTGACTATTAATCCAGATGTAAACAACCAGATGTTTTTTTCTAACTTG
TACAAACTGACGTGTGTCAACTATCATGGAAGGAAAAAAATGTACAGATTAAAATTATTCAGTG
TTATGTACTGTAAGTTAATATTTTTGTAGAATGGACATCAATCTACTTTGCAAAATTTGGAGGC
TATTTCAACATTGCACTGTAGAAATGTAAAGTAATGTATGCAATGTAAAGGAAAGCCCGCGGTA
GCTGAGCGCTTCATAACAGAATGTTCTAATCAAGTACGTGGTATTTGGGGATGTCTCCAATATT
GCTCTTGTATTCTTTCTAATTGGGTTTAGTGACTAGTTGAAGGAAAATGTTATAACGCCATTTG
GTTCACATGTGAAGTGCCCTCCATAGCCAAATGTTGGGATTTTTTTTTTTTTCGTTTTTGGTTG
GACTGTTTGCAGATATTTAAATTTTATGAAATTTCCAAAGATTTTGGTTGATAACCCCCTTTTA
CCTTCTAAATGATTTGAGATGTTCTTATGTTCTTACTGTGTGTTTTAAATATATATAAAAGAGC
CACAAGCATTTAGTCTTTTAGTATTATATTTGATCATATAACTACTACTGAAAAGGGGTGGGGG
GGAATGTGCCTGTGCACCCCTACAGTATCTTGTGTAGTGTCTATTAACATTGTTCTCTTTTAGA
GGACCACATTAAAAGGTACATTAATCTTA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001077431	(Get FASTA)	NCBI Sequence Viewer
	NP_001230155	(Get FASTA)	NCBI Sequence Viewer
	NP_001230156	(Get FASTA)	NCBI Sequence Viewer
	NP_001230157	(Get FASTA)	NCBI Sequence Viewer
	NP_001230159	(Get FASTA)	NCBI Sequence Viewer
	NP_001230160	(Get FASTA)	NCBI Sequence Viewer
	NP_001230161	(Get FASTA)	NCBI Sequence Viewer
	NP_001230162	(Get FASTA)	NCBI Sequence Viewer
	NP_001230163	(Get FASTA)	NCBI Sequence Viewer
	NP_001230164	(Get FASTA)	NCBI Sequence Viewer
	NP_001230165	(Get FASTA)	NCBI Sequence Viewer
	NP_001293136	(Get FASTA)	NCBI Sequence Viewer
	NP_001293137	(Get FASTA)	NCBI Sequence Viewer
	NP_001317533	(Get FASTA)	NCBI Sequence Viewer
	NP_001317534	(Get FASTA)	NCBI Sequence Viewer
	NP_001335140	(Get FASTA)	NCBI Sequence Viewer
	NP_001335141	(Get FASTA)	NCBI Sequence Viewer
	NP_001335142	(Get FASTA)	NCBI Sequence Viewer
	NP_001335143	(Get FASTA)	NCBI Sequence Viewer
	NP_001335144	(Get FASTA)	NCBI Sequence Viewer
	NP_001335145	(Get FASTA)	NCBI Sequence Viewer
	NP_001335146	(Get FASTA)	NCBI Sequence Viewer
	NP_001335147	(Get FASTA)	NCBI Sequence Viewer
	NP_001335148	(Get FASTA)	NCBI Sequence Viewer
	NP_001335149	(Get FASTA)	NCBI Sequence Viewer
	NP_001356496	(Get FASTA)	NCBI Sequence Viewer
	NP_001356497	(Get FASTA)	NCBI Sequence Viewer
	NP_001356498	(Get FASTA)	NCBI Sequence Viewer
	NP_001356499	(Get FASTA)	NCBI Sequence Viewer
	NP_001356500	(Get FASTA)	NCBI Sequence Viewer
	NP_001356501	(Get FASTA)	NCBI Sequence Viewer
	NP_001356502	(Get FASTA)	NCBI Sequence Viewer
	NP_001356503	(Get FASTA)	NCBI Sequence Viewer
	NP_001356504	(Get FASTA)	NCBI Sequence Viewer
	NP_001356505	(Get FASTA)	NCBI Sequence Viewer
	NP_001356506	(Get FASTA)	NCBI Sequence Viewer
	NP_001356507	(Get FASTA)	NCBI Sequence Viewer
	NP_001356508	(Get FASTA)	NCBI Sequence Viewer
	NP_001356509	(Get FASTA)	NCBI Sequence Viewer
	NP_001356510	(Get FASTA)	NCBI Sequence Viewer
	NP_001356511	(Get FASTA)	NCBI Sequence Viewer
	NP_001356512	(Get FASTA)	NCBI Sequence Viewer
	NP_001356513	(Get FASTA)	NCBI Sequence Viewer
	NP_001356514	(Get FASTA)	NCBI Sequence Viewer
	NP_001356515	(Get FASTA)	NCBI Sequence Viewer
	NP_003190	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA60310	(Get FASTA)	NCBI Sequence Viewer
	AAA60311	(Get FASTA)	NCBI Sequence Viewer
	AAA60312	(Get FASTA)	NCBI Sequence Viewer
	AAC51824	(Get FASTA)	NCBI Sequence Viewer
	AAI25085	(Get FASTA)	NCBI Sequence Viewer
	AAI25086	(Get FASTA)	NCBI Sequence Viewer
	BAD92978	(Get FASTA)	NCBI Sequence Viewer
	BAG52974	(Get FASTA)	NCBI Sequence Viewer
	BAG53382	(Get FASTA)	NCBI Sequence Viewer
	BAG53716	(Get FASTA)	NCBI Sequence Viewer
	BAG61849	(Get FASTA)	NCBI Sequence Viewer
	BAG62325	(Get FASTA)	NCBI Sequence Viewer
	BAH12962	(Get FASTA)	NCBI Sequence Viewer
	BAH13314	(Get FASTA)	NCBI Sequence Viewer
	BAH13417	(Get FASTA)	NCBI Sequence Viewer
	BAH14536	(Get FASTA)	NCBI Sequence Viewer
	CAA36298	(Get FASTA)	NCBI Sequence Viewer
	CBY80181	(Get FASTA)	NCBI Sequence Viewer
	CBY80182	(Get FASTA)	NCBI Sequence Viewer
	CBY80183	(Get FASTA)	NCBI Sequence Viewer
	CBY80184	(Get FASTA)	NCBI Sequence Viewer
	CBY80185	(Get FASTA)	NCBI Sequence Viewer
	CBY80186	(Get FASTA)	NCBI Sequence Viewer
	CBY80187	(Get FASTA)	NCBI Sequence Viewer
	CBY80188	(Get FASTA)	NCBI Sequence Viewer
	CBY80189	(Get FASTA)	NCBI Sequence Viewer
	CBY80190	(Get FASTA)	NCBI Sequence Viewer
	CBY80191	(Get FASTA)	NCBI Sequence Viewer
	CBY80192	(Get FASTA)	NCBI Sequence Viewer
	CBY80193	(Get FASTA)	NCBI Sequence Viewer
	CBY80194	(Get FASTA)	NCBI Sequence Viewer
	CBY80195	(Get FASTA)	NCBI Sequence Viewer
	CBY80196	(Get FASTA)	NCBI Sequence Viewer
	CBY80197	(Get FASTA)	NCBI Sequence Viewer
	CBY80198	(Get FASTA)	NCBI Sequence Viewer
	CBY80199	(Get FASTA)	NCBI Sequence Viewer
	CBY80200	(Get FASTA)	NCBI Sequence Viewer
	CBY80201	(Get FASTA)	NCBI Sequence Viewer
	CBY80202	(Get FASTA)	NCBI Sequence Viewer
	EAW63017	(Get FASTA)	NCBI Sequence Viewer
	EAW63018	(Get FASTA)	NCBI Sequence Viewer
	EAW63019	(Get FASTA)	NCBI Sequence Viewer
	EAW63020	(Get FASTA)	NCBI Sequence Viewer
	EAW63021	(Get FASTA)	NCBI Sequence Viewer
	EAW63022	(Get FASTA)	NCBI Sequence Viewer
	EAW63023	(Get FASTA)	NCBI Sequence Viewer
	EAW63024	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000346440
	ENSP00000346440.3
	ENSP00000348374
	ENSP00000348374.4
	ENSP00000381382
	ENSP00000409447
	ENSP00000409447.2
	ENSP00000439656
	ENSP00000439656.1
	ENSP00000439827
	ENSP00000439827.2
	ENSP00000440731
	ENSP00000440731.1
	ENSP00000441562
	ENSP00000441562.2
	ENSP00000445202
	ENSP00000445202.1
	ENSP00000454366.1
	ENSP00000454647.1
	ENSP00000455135
	ENSP00000455135.1
	ENSP00000455179
	ENSP00000455179.1
	ENSP00000455261
	ENSP00000455261.1
	ENSP00000455346
	ENSP00000455418
	ENSP00000455418.2
	ENSP00000455763
	ENSP00000455763.1
	ENSP00000455984.2
	ENSP00000456125
	ENSP00000456125.1
	ENSP00000457263
	ENSP00000457649
	ENSP00000457649.1
	ENSP00000457765
	ENSP00000457765.1
	ENSP00000478549
	ENSP00000478549.1
	ENSP00000486072.1
	ENSP00000486670
	ENSP00000486670.1
	ENSP00000490006.1
	ENSP00000490625
	ENSP00000490832
	ENSP00000494380
	ENSP00000501758
GenBank Protein	P15884	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_003190 ⟸ NM_003199
- Peptide Label:	isoform b
- UniProtKB:	Q15440 (UniProtKB/Swiss-Prot), Q15439 (UniProtKB/Swiss-Prot), Q08AP3 (UniProtKB/Swiss-Prot), Q08AP2 (UniProtKB/Swiss-Prot), H3BPQ1 (UniProtKB/Swiss-Prot), G0LNV2 (UniProtKB/Swiss-Prot), G0LNV1 (UniProtKB/Swiss-Prot), G0LNV0 (UniProtKB/Swiss-Prot), G0LNU9 (UniProtKB/Swiss-Prot), G0LNU8 (UniProtKB/Swiss-Prot), G0LNU5 (UniProtKB/Swiss-Prot), G0LNU4 (UniProtKB/Swiss-Prot), G0LNU2 (UniProtKB/Swiss-Prot), G0LNU1 (UniProtKB/Swiss-Prot), G0LNU0 (UniProtKB/Swiss-Prot), G0LNT9 (UniProtKB/Swiss-Prot), B7Z6Y1 (UniProtKB/Swiss-Prot), B7Z5M6 (UniProtKB/Swiss-Prot), B4DUG3 (UniProtKB/Swiss-Prot), B4DT37 (UniProtKB/Swiss-Prot), B3KUC0 (UniProtKB/Swiss-Prot), B3KT62 (UniProtKB/Swiss-Prot), Q15441 (UniProtKB/Swiss-Prot), P15884 (UniProtKB/Swiss-Prot), B3KVA4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MHHQQRMAALGTDKELSDLLDFSAMFSPPVSSGKNGPTSLASGHFTGSNVEDRSSSGSWGNGGH PSPSRNYGDGTPYDHMTSRDLGSHDNLSPPFVNSRIQSKTERGSYSSYGRESNLQGCHQQSLLG GDMDMGNPGTLSPTKPGSQYYQYSSNNPRRRPLHSSAMEVQTKKVRKVPPGLPSSVYAPSASTA DYNRDSPGYPSSKPATSTFPSSFFMQDGHHSSDPWSSSSGMNQPGYAGMLGNSSHIPQSSSYCS LHPHERLSYPSHSSADINSSLPPMSTFHRSGTNHYSTSSCTPPANGTDSIMANRGSGAAGSSQT GDALGKALASIYSPDHTNNSFSSNPSTPVGSPPSLSAGTAVWSRNGGQASSSPNYEGPLHSLQS RIEDRLERLDDAIHVLRNHAVGPSTAMPGGHGDMHGIIGPSHNGAMGGLGSGYGTGLLSANRHS LMVGTHREDGVALRGSHSLLPNQVPVPQLPVQSATSPDLNPPQDPYRGMPPGLQGQSVSSGSSE IKSDDEGDENLQDTKSSEDKKLDDDKKDIKSITSNNDDEDLTPEQKAEREKERRMANNARERLR VRDINEAFKELGRMVQLHLKSDKPQTKLLILHQAVAVILSLEQQVRERNLNPKAACLKRREEEK VSSEPPPLSLAGPHPGMGDASNHMGQM hide sequence

RefSeq Acc Id:	NP_001077431 ⟸ NM_001083962
- Peptide Label:	isoform a
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MHHQQRMAALGTDKELSDLLDFSAMFSPPVSSGKNGPTSLASGHFTGSNVEDRSSSGSWGNGGH PSPSRNYGDGTPYDHMTSRDLGSHDNLSPPFVNSRIQSKTERGSYSSYGRESNLQGCHQQSLLG GDMDMGNPGTLSPTKPGSQYYQYSSNNPRRRPLHSSAMEVQTKKVRKVPPGLPSSVYAPSASTA DYNRDSPGYPSSKPATSTFPSSFFMQDGHHSSDPWSSSSGMNQPGYAGMLGNSSHIPQSSSYCS LHPHERLSYPSHSSADINSSLPPMSTFHRSGTNHYSTSSCTPPANGTDSIMANRGSGAAGSSQT GDALGKALASIYSPDHTNNSFSSNPSTPVGSPPSLSAGTAVWSRNGGQASSSPNYEGPLHSLQS RIEDRLERLDDAIHVLRNHAVGPSTAMPGGHGDMHGIIGPSHNGAMGGLGSGYGTGLLSANRHS LMVGTHREDGVALRGSHSLLPNQVPVPQLPVQSATSPDLNPPQDPYRGMPPGLQGQSVSSGSSE IKSDDEGDENLQDTKSSEDKKLDDDKKDIKSITRSRSSNNDDEDLTPEQKAEREKERRMANNAR ERLRVRDINEAFKELGRMVQLHLKSDKPQTKLLILHQAVAVILSLEQQVRERNLNPKAACLKRR EEEKVSSEPPPLSLAGPHPGMGDASNHMGQM hide sequence

RefSeq Acc Id:	NP_001230155 ⟸ NM_001243226
- Peptide Label:	isoform c precursor
- UniProtKB:	E9PH57 (UniProtKB/TrEMBL), A0A1B0GVR6 (UniProtKB/TrEMBL)
- Sequence:	show sequence MFSKRLEKIPQVPLLFPFIFIILTNYSKMEGAVESQPSFFKTSQDIVTCTWVENCYSSFSRRPL EQMFCKHQSKNIISWTGMVAHTCNPSTLGGQGLCDFAKMHHQQRMAALGTDKELSDLLDFSAMF SPPVSSGKNGPTSLASGHFTGSNVEDRSSSGSWGNGGHPSPSRNYGDGTPYDHMTSRDLGSHDN LSPPFVNSRIQSKTERGSYSSYGRESNLQGCHQQSLLGGDMDMGNPGTLSPTKPGSQYYQYSSN NPRRRPLHSSAMEVQTKKVRKVPPGLPSSVYAPSASTADYNRDSPGYPSSKPATSTFPSSFFMQ DGHHSSDPWSSSSGMNQPGYAGMLGNSSHIPQSSSYCSLHPHERLSYPSHSSADINSSLPPMST FHRSGTNHYSTSSCTPPANGTDSIMANRGSGAAGSSQTGDALGKALASIYSPDHTNNSFSSNPS TPVGSPPSLSAGTAVWSRNGGQASSSPNYEGPLHSLQSRIEDRLERLDDAIHVLRNHAVGPSTA MPGGHGDMHGIIGPSHNGAMGGLGSGYGTGLLSANRHSLMVGTHREDGVALRGSHSLLPNQVPV PQLPVQSATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIKSDDEGDENLQDTKSSEDKKLDDDK KDIKSITRSRSSNNDDEDLTPEQKAEREKERRMANNARERLRVRDINEAFKELGRMVQLHLKSD KPQTKLLILHQAVAVILSLEQQVRERNLNPKAACLKRREEEKVSSEPPPLSLAGPHPGMGDASN HMGQM hide sequence

RefSeq Acc Id:	NP_001230156 ⟸ NM_001243227
- Peptide Label:	isoform d
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MFSPPVSSGKNGPTSLASGHFTGSNVEDRSSSGSWGNGGHPSPSRNYGDGTPYDHMTSRDLGSH DNLSPPFVNSRIQSKTERGSYSSYGRESNLQGCHQQSLLGGDMDMGNPGTLSPTKPGSQYYQYS SNNPRRRPLHSSAMEVQTKKVRKVPPGLPSSVYAPSASTADYNRDSPGYPSSKPATSTFPSSFF MQDGHHSSDPWSSSSGMNQPGYAGMLGNSSHIPQSSSYCSLHPHERLSYPSHSSADINSSLPPM STFHRSGTNHYSTSSCTPPANGTDSIMANRGSGAAGSSQTGDALGKALASIYSPDHTNNSFSSN PSTPVGSPPSLSAGTAVWSRNGGQASSSPNYEGPLHSLQSRIEDRLERLDDAIHVLRNHAVGPS TAMPGGHGDMHGIIGPSHNGAMGGLGSGYGTGLLSANRHSLMVGTHREDGVALRGSHSLLPNQV PVPQLPVQSATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIKSDDEGDENLQDTKSSEDKKLDD DKKDIKSITRSRSSNNDDEDLTPEQKAEREKERRMANNARERLRVRDINEAFKELGRMVQLHLK SDKPQTKLLILHQAVAVILSLEQQVRERNLNPKAACLKRREEEKVSSEPPPLSLAGPHPGMGDA SNHMGQM hide sequence

RefSeq Acc Id:	NP_001230157 ⟸ NM_001243228
- Peptide Label:	isoform e
- UniProtKB:	H3BTP3 (UniProtKB/TrEMBL), B3KVA4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MHHQQRMAALGTDKELSDLLDFSAMFSPPVSSGKNGPTSLASGHFTGSNVEDRSSSGSWGNGGH PSPSRNYGDGTPYDHMTSRDLGSHDNLSPPFVNSRIQSKTERGSYSSYGRESNLQGCHQQSLLG GDMDMGNPGTLSPTKPGSQYYQYSSNNPRRRPLHSSAMEVQTKKVRKVPPGLPSSLVLSPQVYA PSASTADYNRDSPGYPSSKPATSTFPSSFFMQDGHHSSDPWSSSSGMNQPGYAGMLGNSSHIPQ SSSYCSLHPHERLSYPSHSSADINSSLPPMSTFHRSGTNHYSTSSCTPPANGTDSIMANRGSGA AGSSQTGDALGKALASIYSPDHTNNSFSSNPSTPVGSPPSLSAGTAVWSRNGGQASSSPNYEGP LHSLQSRIEDRLERLDDAIHVLRNHAVGPSTAMPGGHGDMHGIIGPSHNGAMGGLGSGYGTGLL SANRHSLMVGTHREDGVALRGSHSLLPNQVPVPQLPVQSATSPDLNPPQDPYRGMPPGLQGQSV SSGSSEIKSDDEGDENLQDTKSSEDKKLDDDKKDIKSITRSRSSNNDDEDLTPEQKAEREKERR MANNARERLRVRDINEAFKELGRMVQLHLKSDKPQTKLLILHQAVAVILSLEQQVRERNLNPKA ACLKRREEEKVSSEPPPLSLAGPHPGMGDASNHMGQM hide sequence

RefSeq Acc Id:	NP_001230159 ⟸ NM_001243230
- Peptide Label:	isoform f
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MQRAKTELFRLQIVTDDLRKNEMFSPPVSSGKNGPTSLASGHFTGSNVEDRSSSGSWGNGGHPS PSRNYGDGTPYDHMTSRDLGSHDNLSPPFVNSRIQSKTERGSYSSYGRESNLQGCHQQSLLGGD MDMGNPGTLSPTKPGSQYYQYSSNNPRRRPLHSSAMEVQTKKVRKVPPGLPSSVYAPSASTADY NRDSPGYPSSKPATSTFPSSFFMQDGHHSSDPWSSSSGMNQPGYAGMLGNSSHIPQSSSYCSLH PHERLSYPSHSSADINSSLPPMSTFHRSGTNHYSTSSCTPPANGTDSIMANRGSGAAGSSQTGD ALGKALASIYSPDHTNNSFSSNPSTPVGSPPSLSGTAVWSRNGGQASSSPNYEGPLHSLQSRIE DRLERLDDAIHVLRNHAVGPSTAMPGGHGDMHGIIGPSHNGAMGGLGSGYGTGLLSANRHSLMV GTHREDGVALRGSHSLLPNQVPVPQLPVQSATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIKS DDEGDENLQDTKSSEDKKLDDDKKDIKSITSNNDDEDLTPEQKAEREKERRMANNARERLRVRD INEAFKELGRMVQLHLKSDKPQTKLLILHQAVAVILSLEQQVRERNLNPKAACLKRREEEKVSS EPPPLSLAGPHPGMGDASNHMGQM hide sequence

RefSeq Acc Id:	NP_001230160 ⟸ NM_001243231
- Peptide Label:	isoform g
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEEDSRDVEDRSSSGSWGNGGHPSPSRNYGDGTPYDHMTSRDLGSHDNLSPPFVNSRIQSKTER GSYSSYGRESNLQGCHQQSLLGGDMDMGNPGTLSPTKPGSQYYQYSSNNPRRRPLHSSAMEVQT KKVRKVPPGLPSSVYAPSASTADYNRDSPGYPSSKPATSTFPSSFFMQDGHHSSDPWSSSSGMN QPGYAGMLGNSSHIPQSSSYCSLHPHERLSYPSHSSADINSSLPPMSTFHRSGTNHYSTSSCTP PANGTDSIMANRGSGAAGSSQTGDALGKALASIYSPDHTNNSFSSNPSTPVGSPPSLSAGTAVW SRNGGQASSSPNYEGPLHSLQSRIEDRLERLDDAIHVLRNHAVGPSTAMPGGHGDMHGIIGPSH NGAMGGLGSGYGTGLLSANRHSLMVGTHREDGVALRGSHSLLPNQVPVPQLPVQSATSPDLNPP QDPYRGMPPGLQGQSVSSGSSEIKSDDEGDENLQDTKSSEDKKLDDDKKDIKSITSNNDDEDLT PEQKAEREKERRMANNARERLRVRDINEAFKELGRMVQLHLKSDKPQTKLLILHQAVAVILSLE QQVRERNLNPKAACLKRREEEKVSSEPPPLSLAGPHPGMGDASNHMGQM hide sequence

RefSeq Acc Id:	NP_001230162 ⟸ NM_001243233
- Peptide Label:	isoform i
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDMGNPGTLSPTKPGSQYYQYSSNNPRRRPLHSSAMEVQTKKVRKVPPGLPSSVYAPSASTADY NRDSPGYPSSKPATSTFPSSFFMQDGHHSSDPWSSSSGMNQPGYAGMLGNSSHIPQSSSYCSLH PHERLSYPSHSSADINSSLPPMSTFHRSGTNHYSTSSCTPPANGTDSIMANRGSGAAGSSQTGD ALGKALASIYSPDHTNNSFSSNPSTPVGSPPSLSAGTAVWSRNGGQASSSPNYEGPLHSLQSRI EDRLERLDDAIHVLRNHAVGPSTAMPGGHGDMHGIIGPSHNGAMGGLGSGYGTGLLSANRHSLM VGTHREDGVALRGSHSLLPNQVPVPQLPVQSATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIK SDDEGDENLQDTKSSEDKKLDDDKKDIKSITSNNDDEDLTPEQKAEREKERRMANNARERLRVR DINEAFKELGRMVQLHLKSDKPQTKLLILHQAVAVILSLEQQVRERNLNPKAACLKRREEEKVS SEPPPLSLAGPHPGMGDASNHMGQM hide sequence

RefSeq Acc Id:	NP_001230161 ⟸ NM_001243232
- Peptide Label:	isoform h
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MKDIFFQFIIARVRKCYSLSCLHTLPVVPTLRKTERGSYSSYGRESNLQGCHQSLLGGDMDMGN PGTLSPTKPGSQYYQYSSNNPRRRPLHSSAMEVQTKKVRKVPPGLPSSVYAPSASTADYNRDSP GYPSSKPATSTFPSSFFMQDGHHSSDPWSSSSGMNQPGYAGMLGNSSHIPQSSSYCSLHPHERL SYPSHSSADINSSLPPMSTFHRSGTNHYSTSSCTPPANGTDSIMANRGSGAAGSSQTGDALGKA LASIYSPDHTNNSFSSNPSTPVGSPPSLSAGTAVWSRNGGQASSSPNYEGPLHSLQSRIEDRLE RLDDAIHVLRNHAVGPSTAMPGGHGDMHGIIGPSHNGAMGGLGSGYGTGLLSANRHSLMVGTHR EDGVALRGSHSLLPNQVPVPQLPVQSATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIKSDDEG DENLQDTKSSEDKKLDDDKKDIKSITRSRSSNNDDEDLTPEQKAEREKERRMANNARERLRVRD INEAFKELGRMVQLHLKSDKPQTKLLILHQAVAVILSLEQQVRERNLNPKAACLKRREEEKVSS EPPPLSLAGPHPGMGDASNHMGQM hide sequence

RefSeq Acc Id:	NP_001230164 ⟸ NM_001243235
- Peptide Label:	isoform k
- UniProtKB:	P15884 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MYCAYTIPGMGGNSLMYYYNGKAVYAPSASTADYNRDSPGYPSSKPATSTFPSSFFMQDGHHSS DPWSSSSGMNQPGYAGMLGNSSHIPQSSSYCSLHPHERLSYPSHSSADINSSLPPMSTFHRSGT NHYSTSSCTPPANGTDSIMANRGSGAAGSSQTGDALGKALASIYSPDHTNNSFSSNPSTPVGSP PSLSAGTAVWSRNGGQASSSPNYEGPLHSLQSRIEDRLERLDDAIHVLRNHAVGPSTAMPGGHG DMHGIIGPSHNGAMGGLGSGYGTGLLSANRHSLMVGTHREDGVALRGSHSLLPNQVPVPQLPVQ SATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIKSDDEGDENLQDTKSSEDKKLDDDKKDIKSI TSNNDDEDLTPEQKAEREKERRMANNARERLRVRDINEAFKELGRMVQLHLKSDKPQTKLLILH QAVAVILSLEQQVRERNLNPKAACLKRREEEKVSSEPPPLSLAGPHPGMGDASNHMGQM hide sequence

RefSeq Acc Id:	NP_001230163 ⟸ NM_001243234
- Peptide Label:	isoform j
- UniProtKB:	P15884 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MYCAYTIPGMGGNSLMYYYNGKAVYAPSASTADYNRDSPGYPSSKPATSTFPSSFFMQDGHHSS DPWSSSSGMNQPGYAGMLGNSSHIPQSSSYCSLHPHERLSYPSHSSADINSSLPPMSTFHRSGT NHYSTSSCTPPANGTDSIMANRGSGAAGSSQTGDALGKALASIYSPDHTNNSFSSNPSTPVGSP PSLSAGTAVWSRNGGQASSSPNYEGPLHSLQSRIEDRLERLDDAIHVLRNHAVGPSTAMPGGHG DMHGIIGPSHNGAMGGLGSGYGTGLLSANRHSLMVGTHREDGVALRGSHSLLPNQVPVPQLPVQ SATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIKSDDEGDENLQDTKSSEDKKLDDDKKDIKSI TRSRSSNNDDEDLTPEQKAEREKERRMANNARERLRVRDINEAFKELGRMVQLHLKSDKPQTKL LILHQAVAVILSLEQQVRERNLNPKAACLKRREEEKVSSEPPPLSLAGPHPGMGDASNHMGQM hide sequence

RefSeq Acc Id:	NP_001230165 ⟸ NM_001243236
- Peptide Label:	isoform l
- UniProtKB:	P15884 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MKFKQCRCSDTGLCCLDHEGKAEVYAPSASTADYNRDSPGYPSSKPATSTFPSSFFMQDGHHSS DPWSSSSGMNQPGYAGMLGNSSHIPQSSSYCSLHPHERLSYPSHSSADINSSLPPMSTFHRSGT NHYSTSSCTPPANGTDSIMANRGSGAAGSSQTGDALGKALASIYSPDHTNNSFSSNPSTPVGSP PSLSAGTAVWSRNGGQASSSPNYEGPLHSLQSRIEDRLERLDDAIHVLRNHAVGPSTAMPGGHG DMHGIIGPSHNGAMGGLGSGYGTGLLSANRHSLMVGTHREDGVALRGSHSLLPNQVPVPQLPVQ SATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIKSDDEGDENLQDTKSSEDKKLDDDKKDIKSI TSNNDDEDLTPEQKAEREKERRMANNARERLRVRDINEAFKELGRMVQLHLKSDKPQTKLLILH QAVAVILSLEQQVRERNLNPKAACLKRREEEKVSSEPPPLSLAGPHPGMGDASNHMGQM hide sequence

RefSeq Acc Id:	NP_001293136 ⟸ NM_001306207
- Peptide Label:	isoform m
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MFSPPVSSGKNGPTSLASGHFTGSNVEDRSSSGSWGNGGHPSPSRNYGDGTPYDHMTSRDLGSH DNLSPPFVNSRIQSKTERGSYSSYGRESNLQGCHQQSLLGGDMDMGNPGTLSPTKPGSQYYQYS SNNPRRRPLHSSAMEVQTKKVRKVPPGLPSSVYAPSASTADYNRDSPGYPSSKPATSTFPSSFF MQDGHHSSDPWSSSSGMNQPGYAGMLGNSSHIPQSSSYCSLHPHERLSYPSHSSADINSSLPPM STFHRSGTNHYSTSSCTPPANGTDSIMANRGSGAAGSSQTGDALGKALASIYSPDHTNNSFSSN PSTPVGSPPSLSAGTAVWSRNGGQASSSPNYEGPLHSLQSRIEDRLERLDDAIHVLRNHAVGPS TAMPGGHGDMHGIIGPSHNGAMGGLGSGYGTGLLSANRHSLMVGTHREDGVALRGSHSLLPNQV PVPQLPVQSATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIKSDDEGDENLQDTKSSEDKKLDD DKKDIKSITSNNDDEDLTPEQKAEREKERRMANNARERLRVRDINEAFKELGRMVQLHLKSDKP QTKLLILHQAVAVILSLEQQVRERNLNPKAACLKRREEEKVSSEPPPLSLAGPHPGMGDASNHM GQM hide sequence

RefSeq Acc Id:	NP_001293137 ⟸ NM_001306208
- Peptide Label:	isoform n
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MKDIFFQFIIARVRKCYSLSCLHTLPVVPTLRKTERGSYSSYGRESNLQGCHQSLLGGDMDMGN PGTLSPTKPGSQYYQYSSNNPRRRPLHSSAMEVQTKKVRKVPPGLPSSVYAPSASTADYNRDSP GYPSSKPATSTFPSSFFMQDGHHSSDPWSSSSGMNQPGYAGMLGNSSHIPQSSSYCSLHPHERL SYPSHSSADINSSLPPMSTFHRSGTNHYSTSSCTPPANGTDSIMANRGSGAAGSSQTGDALGKA LASIYSPDHTNNSFSSNPSTPVGSPPSLSAGTAVWSRNGGQASSSPNYEGPLHSLQSRIEDRLE RLDDAIHVLRNHAVGPSTAMPGGHGDMHGIIGPSHNGAMGGLGSGYGTGLLSANRHSLMVGTHR EDGVALRGSHSLLPNQVPVPQLPVQSATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIKSDDEG DENLQDTKSSEDKKLDDDKKDIKSITSNNDDEDLTPEQKAEREKERRMANNARERLRVRDINEA FKELGRMVQLHLKSDKPQTKLLILHQAVAVILSLEQQVRERNLNPKAACLKRREEEKVSSEPPP LSLAGPHPGMGDASNHMGQM hide sequence

RefSeq Acc Id:	NP_001317533 ⟸ NM_001330604
- Peptide Label:	isoform o
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MHHQQRMAALGTDKELSDLLDFSAMFSPPVSSGKNGPTSLASGHFTGSNVEDRSSSGSWGNGGH PSPSRNYGDGTPYDHMTSRDLGSHDNLSPPFVNSRIQSKTERGSYSSYGRESNLQGCHQQSLLG GDMDMGNPGTLSPTKPGSQYYQYSSNNPRRRPLHSSAMEVQTKKVRKVPPGLPSSVYAPSASTA DYNRDSPGYPSSKPATSTFPSSFFMQDGHHSSDPWSSSSGMNQPGYAGMLGNSSHIPQSSSYCS LHPHERLSYPSHSSADINSSLPPMSTFHRSGTNHYSTSSCTPPANGTDSIMANRGSGAAGSSQT GDALGKALASIYSPDHTNNSFSSNPSTPVGSPPSLSGTAVWSRNGGQASSSPNYEGPLHSLQSR IEDRLERLDDAIHVLRNHAVGPSTAMPGGHGDMHGIIGPSHNGAMGGLGSGYGTGLLSANRHSL MVGTHREDGVALRGSHSLLPNQVPVPQLPVQSATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEI KSDDEGDENLQDTKSSEDKKLDDDKKDIKSITRSRSSNNDDEDLTPEQKAEREKERRMANNARE RLRVRDINEAFKELGRMVQLHLKSDKPQTKLLILHQAVAVILSLEQQVRERNLNPKAACLKRRE EEKVSSEPPPLSLAGPHPGMGDASNHMGQM hide sequence

RefSeq Acc Id:	NP_001335148 ⟸ NM_001348219
- Peptide Label:	isoform m
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MFSPPVSSGKNGPTSLASGHFTGSNVEDRSSSGSWGNGGHPSPSRNYGDGTPYDHMTSRDLGSH DNLSPPFVNSRIQSKTERGSYSSYGRESNLQGCHQQSLLGGDMDMGNPGTLSPTKPGSQYYQYS SNNPRRRPLHSSAMEVQTKKVRKVPPGLPSSVYAPSASTADYNRDSPGYPSSKPATSTFPSSFF MQDGHHSSDPWSSSSGMNQPGYAGMLGNSSHIPQSSSYCSLHPHERLSYPSHSSADINSSLPPM STFHRSGTNHYSTSSCTPPANGTDSIMANRGSGAAGSSQTGDALGKALASIYSPDHTNNSFSSN PSTPVGSPPSLSAGTAVWSRNGGQASSSPNYEGPLHSLQSRIEDRLERLDDAIHVLRNHAVGPS TAMPGGHGDMHGIIGPSHNGAMGGLGSGYGTGLLSANRHSLMVGTHREDGVALRGSHSLLPNQV PVPQLPVQSATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIKSDDEGDENLQDTKSSEDKKLDD DKKDIKSITSNNDDEDLTPEQKAEREKERRMANNARERLRVRDINEAFKELGRMVQLHLKSDKP QTKLLILHQAVAVILSLEQQVRERNLNPKAACLKRREEEKVSSEPPPLSLAGPHPGMGDASNHM GQM hide sequence

RefSeq Acc Id:	NP_001335147 ⟸ NM_001348218
- Peptide Label:	isoform d
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MFSPPVSSGKNGPTSLASGHFTGSNVEDRSSSGSWGNGGHPSPSRNYGDGTPYDHMTSRDLGSH DNLSPPFVNSRIQSKTERGSYSSYGRESNLQGCHQQSLLGGDMDMGNPGTLSPTKPGSQYYQYS SNNPRRRPLHSSAMEVQTKKVRKVPPGLPSSVYAPSASTADYNRDSPGYPSSKPATSTFPSSFF MQDGHHSSDPWSSSSGMNQPGYAGMLGNSSHIPQSSSYCSLHPHERLSYPSHSSADINSSLPPM STFHRSGTNHYSTSSCTPPANGTDSIMANRGSGAAGSSQTGDALGKALASIYSPDHTNNSFSSN PSTPVGSPPSLSAGTAVWSRNGGQASSSPNYEGPLHSLQSRIEDRLERLDDAIHVLRNHAVGPS TAMPGGHGDMHGIIGPSHNGAMGGLGSGYGTGLLSANRHSLMVGTHREDGVALRGSHSLLPNQV PVPQLPVQSATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIKSDDEGDENLQDTKSSEDKKLDD DKKDIKSITRSRSSNNDDEDLTPEQKAEREKERRMANNARERLRVRDINEAFKELGRMVQLHLK SDKPQTKLLILHQAVAVILSLEQQVRERNLNPKAACLKRREEEKVSSEPPPLSLAGPHPGMGDA SNHMGQM hide sequence

RefSeq Acc Id:	NP_001335149 ⟸ NM_001348220
- Peptide Label:	isoform u
- UniProtKB:	H3BPJ7 (UniProtKB/TrEMBL), B3KVA4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MFSPPVSSGKNGPTSLASGHFTGSNVEDRSSSGSWGNGGHPSPSRNYGDGTPYDHMTSRDLGSH DNLSPPFVNSRIQSKTERGSYSSYGRESNLQGCHQSLLGGDMDMGNPGTLSPTKPGSQYYQYSS NNPRRRPLHSSAMEVQTKKVRKVPPGLPSSVYAPSASTADYNRDSPGYPSSKPATSTFPSSFFM QDGHHSSDPWSSSSGMNQPGYAGMLGNSSHIPQSSSYCSLHPHERLSYPSHSSADINSSLPPMS TFHRSGTNHYSTSSCTPPANGTDSIMANRGSGAAGSSQTGDALGKALASIYSPDHTNNSFSSNP STPVGSPPSLSAGTAVWSRNGGQASSSPNYEGPLHSLQSRIEDRLERLDDAIHVLRNHAVGPST AMPGGHGDMHGIIGPSHNGAMGGLGSGYGTGLLSANRHSLMVGTHREDGVALRGSHSLLPNQVP VPQLPVQSATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIKSDDEGDENLQDTKSSEDKKLDDD KKDIKSITSNNDDEDLTPEQKAEREKERRMANNARERLRVRDINEAFKELGRMVQLHLKSDKPQ TKLLILHQAVAVILSLEQQVRERNLNPKAACLKRREEEKVSSEPPPLSLAGPHPGMGDASNHMG QM hide sequence

RefSeq Acc Id:	NP_001335146 ⟸ NM_001348217
- Peptide Label:	isoform d
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MFSPPVSSGKNGPTSLASGHFTGSNVEDRSSSGSWGNGGHPSPSRNYGDGTPYDHMTSRDLGSH DNLSPPFVNSRIQSKTERGSYSSYGRESNLQGCHQQSLLGGDMDMGNPGTLSPTKPGSQYYQYS SNNPRRRPLHSSAMEVQTKKVRKVPPGLPSSVYAPSASTADYNRDSPGYPSSKPATSTFPSSFF MQDGHHSSDPWSSSSGMNQPGYAGMLGNSSHIPQSSSYCSLHPHERLSYPSHSSADINSSLPPM STFHRSGTNHYSTSSCTPPANGTDSIMANRGSGAAGSSQTGDALGKALASIYSPDHTNNSFSSN PSTPVGSPPSLSAGTAVWSRNGGQASSSPNYEGPLHSLQSRIEDRLERLDDAIHVLRNHAVGPS TAMPGGHGDMHGIIGPSHNGAMGGLGSGYGTGLLSANRHSLMVGTHREDGVALRGSHSLLPNQV PVPQLPVQSATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIKSDDEGDENLQDTKSSEDKKLDD DKKDIKSITRSRSSNNDDEDLTPEQKAEREKERRMANNARERLRVRDINEAFKELGRMVQLHLK SDKPQTKLLILHQAVAVILSLEQQVRERNLNPKAACLKRREEEKVSSEPPPLSLAGPHPGMGDA SNHMGQM hide sequence

RefSeq Acc Id:	NP_001335140 ⟸ NM_001348211
- Peptide Label:	isoform q
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEEDSRDVEDRSSSGSWGNGGHPSPSRNYGDGTPYDHMTSRDLGSHDNLSPPFVNSRIQSKTER GSYSSYGRESNLQGCHQQSLLGGDMDMGNPGTLSPTKPGSQYYQYSSNNPRRRPLHSSAMEVQT KKVRKVPPGLPSSVYAPSASTADYNRDSPGYPSSKPATSTFPSSFFMQDGHHSSDPWSSSSGMN QPGYAGMLGNSSHIPQSSSYCSLHPHERLSYPSHSSADINSSLPPMSTFHRSGTNHYSTSSCTP PANGTDSIMANRGSGAAGSSQTGDALGKALASIYSPDHTNNSFSSNPSTPVGSPPSLSAGTAVW SRNGGQASSSPNYEGPLHSLQSRIEDRLERLDDAIHVLRNHAVGPSTAMPGGHGDMHGIIGPSH NGAMGGLGSGYGTGLLSANRHSLMVGTHREDGVALRGSHSLLPNQVPVPQLPVQSATSPDLNPP QDPYRGMPPGLQGQSVSSGSSEIKSDDEGDENLQDTKSSEDKKLDDDKKDIKSITRSRSSNNDD EDLTPEQKAEREKERRMANNARERLRVRDINEAFKELGRMVQLHLKSDKPQTKLLILHQAVAVI LSLEQQVRERNLNPKAACLKRREEEKVSSEPPPLSLAGPHPGMGDASNHMGQM hide sequence

RefSeq Acc Id:	NP_001335141 ⟸ NM_001348212
- Peptide Label:	isoform i
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDMGNPGTLSPTKPGSQYYQYSSNNPRRRPLHSSAMEVQTKKVRKVPPGLPSSVYAPSASTADY NRDSPGYPSSKPATSTFPSSFFMQDGHHSSDPWSSSSGMNQPGYAGMLGNSSHIPQSSSYCSLH PHERLSYPSHSSADINSSLPPMSTFHRSGTNHYSTSSCTPPANGTDSIMANRGSGAAGSSQTGD ALGKALASIYSPDHTNNSFSSNPSTPVGSPPSLSAGTAVWSRNGGQASSSPNYEGPLHSLQSRI EDRLERLDDAIHVLRNHAVGPSTAMPGGHGDMHGIIGPSHNGAMGGLGSGYGTGLLSANRHSLM VGTHREDGVALRGSHSLLPNQVPVPQLPVQSATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIK SDDEGDENLQDTKSSEDKKLDDDKKDIKSITSNNDDEDLTPEQKAEREKERRMANNARERLRVR DINEAFKELGRMVQLHLKSDKPQTKLLILHQAVAVILSLEQQVRERNLNPKAACLKRREEEKVS SEPPPLSLAGPHPGMGDASNHMGQM hide sequence

RefSeq Acc Id:	NP_001335142 ⟸ NM_001348213
- Peptide Label:	isoform p
- UniProtKB:	A0A1B0GWD5 (UniProtKB/TrEMBL), B3KVA4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDMGNPGTLSPTKPGSQYYQYSSNNPRRRPLHSSAMEVQTKKVRKVPPGLPSSVYAPSASTADY NRDSPGYPSSKPATSTFPSSFFMQDGHHSSDPWSSSSGMNQPGYAGMLGNSSHIPQSSSYCSLH PHERLSYPSHSSADINSSLPPMSTFHRSGTNHYSTSSCTPPANGTDSIMANRGSGAAGSSQTGD ALGKALASIYSPDHTNNSFSSNPSTPVGSPPSLSAGTAVWSRNGGQASSSPNYEGPLHSLQSRI EDRLERLDDAIHVLRNHAVGPSTAMPGGHGDMHGIIGPSHNGAMGGLGSGYGTGLLSANRHSLM VGTHREDGVALRGSHSLLPNQVPVPQLPVQSATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIK SDDEGDENLQDTKSSEDKKLDDDKKDIKSITRSRSSNNDDEDLTPEQKAEREKERRMANNARER LRVRDINEAFKELGRMVQLHLKSDKPQTKLLILHQAVAVILSLEQQVRERNLNPKAACLKRREE EKVSSEPPPLSLAGPHPGMGDASNHMGQM hide sequence

RefSeq Acc Id:	NP_001317534 ⟸ NM_001330605
- Peptide Label:	isoform p
- UniProtKB:	A0A1B0GWD5 (UniProtKB/TrEMBL), B3KVA4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDMGNPGTLSPTKPGSQYYQYSSNNPRRRPLHSSAMEVQTKKVRKVPPGLPSSVYAPSASTADY NRDSPGYPSSKPATSTFPSSFFMQDGHHSSDPWSSSSGMNQPGYAGMLGNSSHIPQSSSYCSLH PHERLSYPSHSSADINSSLPPMSTFHRSGTNHYSTSSCTPPANGTDSIMANRGSGAAGSSQTGD ALGKALASIYSPDHTNNSFSSNPSTPVGSPPSLSAGTAVWSRNGGQASSSPNYEGPLHSLQSRI EDRLERLDDAIHVLRNHAVGPSTAMPGGHGDMHGIIGPSHNGAMGGLGSGYGTGLLSANRHSLM VGTHREDGVALRGSHSLLPNQVPVPQLPVQSATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIK SDDEGDENLQDTKSSEDKKLDDDKKDIKSITRSRSSNNDDEDLTPEQKAEREKERRMANNARER LRVRDINEAFKELGRMVQLHLKSDKPQTKLLILHQAVAVILSLEQQVRERNLNPKAACLKRREE EKVSSEPPPLSLAGPHPGMGDASNHMGQM hide sequence

RefSeq Acc Id:	NP_001335143 ⟸ NM_001348214
- Peptide Label:	isoform r
- UniProtKB:	P15884 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MYCAYTIPGMGGNSLMYYYNGKAVYAPSASTADYNRDSPGYPSSKPATSTFPSSFFMQDGHHSS DPWSSSSGMNQPGYAGMLGNSSHIPQSSSYCSLHPHERLSYPSHSSADINSSLPPMSTFHRSGT NHYSTSSCTPPANGTDSIMANRGSGAAGSSQTGDALGKALASIYSPDHTNNSFSSNPSTPVGSP PSLSGTAVWSRNGGQASSSPNYEGPLHSLQSRIEDRLERLDDAIHVLRNHAVGPSTAMPGGHGD MHGIIGPSHNGAMGGLGSGYGTGLLSANRHSLMVGTHREDGVALRGSHSLLPNQVPVPQLPVQS ATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIKSDDEGDENLQDTKSSEDKKLDDDKKDIKSIT SNNDDEDLTPEQKAEREKERRMANNARERLRVRDINEAFKELGRMVQLHLKSDKPQTKLLILHQ AVAVILSLEQQVRERNLNPKAACLKRREEEKVSSEPPPLSLAGPHPGMGDASNHMGQM hide sequence

RefSeq Acc Id:	NP_001335144 ⟸ NM_001348215
- Peptide Label:	isoform s
- UniProtKB:	A0A1B0GW91 (UniProtKB/TrEMBL)
- Sequence:	show sequence MQDGHHSSDPWSSSSGMNQPGYAGMLGNSSHIPQSSSYCSLHPHERLSYPSHSSADINSSLPPM STFHRSGTNHYSTSSCTPPANGTDSIMANRGSGAAGSSQTGDALGKALASIYSPDHTNNSFSSN PSTPVGSPPSLSAGTAVWSRNGGQASSSPNYEGPLHSLQSRIEDRLERLDDAIHVLRNHAVGPS TAMPGGHGDMHGIIGPSHNGAMGGLGSGYGTGLLSANRHSLMVGTHREDGVALRGSHSLLPNQV PVPQLPVQSATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIKSDDEGDENLQDTKSSEDKKLDD DKKDIKSITRSRSSNNDDEDLTPEQKAEREKERRMANNARERLRVRDINEAFKELGRMVQLHLK SDKPQTKLLILHQAVAVILSLEQQVRERNLNPKAACLKRREEEKVSSEPPPLSLAGPHPGMGDA SNHMGQM hide sequence

RefSeq Acc Id:	NP_001335145 ⟸ NM_001348216
- Peptide Label:	isoform t
- UniProtKB:	P15884 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MKFKQCRCSDTGLCCLDHEGKAEVYAPSASTADYNRDSPGYPSSKPATSTFPSSFFMQDGHHSS DPWSSSSGMNQPGYAGMLGNSSHIPQSSSYCSLHPHERLSYPSHSSADINSSLPPMSTFHRSGT NHYSTSSCTPPANGTDSIMANRGSGAAGSSQTGDALGKALASIYSPDHTNNSFSSNPSTPVGSP PSLSAGTAVWSRNGGQASSSPNYEGPLHSLQSRIEDRLERLDDAIHVLRNHAVGPSTAMPGGHG DMHGIIGPSHNGAMGGLGSGYGTGLLSANRHSLMVGTHREDGVALRGSHSLLPNQVPVPQLPVQ SATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIKSDDEGDENLQDTKSSEDKKLDDDKKDIKSI TRSRSSNNDDEDLTPEQKAEREKERRMANNARERLRVRDINEAFKELGRMVQLHLKSDKPQTKL LILHQAVAVILSLEQQVRERNLNPKAACLKRREEEKVSSEPPPLSLAGPHPGMGDASNHMGQM hide sequence

RefSeq Acc Id:	NP_001356513 ⟸ NM_001369584
- Peptide Label:	isoform u
- UniProtKB:	H3BPJ7 (UniProtKB/TrEMBL), B3KVA4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001356505 ⟸ NM_001369576
- Peptide Label:	isoform y
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001356506 ⟸ NM_001369577
- Peptide Label:	isoform 28
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001356511 ⟸ NM_001369582
- Peptide Label:	isoform m
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001356515 ⟸ NM_001369586
- Peptide Label:	isoform z
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001356500 ⟸ NM_001369571
- Peptide Label:	isoform b
- UniProtKB:	Q15440 (UniProtKB/Swiss-Prot), Q15439 (UniProtKB/Swiss-Prot), Q08AP3 (UniProtKB/Swiss-Prot), Q08AP2 (UniProtKB/Swiss-Prot), P15884 (UniProtKB/Swiss-Prot), H3BPQ1 (UniProtKB/Swiss-Prot), G0LNV2 (UniProtKB/Swiss-Prot), G0LNV1 (UniProtKB/Swiss-Prot), G0LNV0 (UniProtKB/Swiss-Prot), G0LNU9 (UniProtKB/Swiss-Prot), G0LNU8 (UniProtKB/Swiss-Prot), G0LNU5 (UniProtKB/Swiss-Prot), G0LNU4 (UniProtKB/Swiss-Prot), G0LNU2 (UniProtKB/Swiss-Prot), G0LNU1 (UniProtKB/Swiss-Prot), G0LNU0 (UniProtKB/Swiss-Prot), G0LNT9 (UniProtKB/Swiss-Prot), B7Z6Y1 (UniProtKB/Swiss-Prot), B7Z5M6 (UniProtKB/Swiss-Prot), B4DUG3 (UniProtKB/Swiss-Prot), B4DT37 (UniProtKB/Swiss-Prot), B3KUC0 (UniProtKB/Swiss-Prot), B3KT62 (UniProtKB/Swiss-Prot), Q15441 (UniProtKB/Swiss-Prot), B3KVA4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001356496 ⟸ NM_001369567
- Peptide Label:	isoform a
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001356498 ⟸ NM_001369569
- Peptide Label:	isoform v
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001356501 ⟸ NM_001369572
- Peptide Label:	isoform b
- UniProtKB:	Q15440 (UniProtKB/Swiss-Prot), Q15439 (UniProtKB/Swiss-Prot), Q08AP3 (UniProtKB/Swiss-Prot), Q08AP2 (UniProtKB/Swiss-Prot), P15884 (UniProtKB/Swiss-Prot), H3BPQ1 (UniProtKB/Swiss-Prot), G0LNV2 (UniProtKB/Swiss-Prot), G0LNV1 (UniProtKB/Swiss-Prot), G0LNV0 (UniProtKB/Swiss-Prot), G0LNU9 (UniProtKB/Swiss-Prot), G0LNU8 (UniProtKB/Swiss-Prot), G0LNU5 (UniProtKB/Swiss-Prot), G0LNU4 (UniProtKB/Swiss-Prot), G0LNU2 (UniProtKB/Swiss-Prot), G0LNU1 (UniProtKB/Swiss-Prot), G0LNU0 (UniProtKB/Swiss-Prot), G0LNT9 (UniProtKB/Swiss-Prot), B7Z6Y1 (UniProtKB/Swiss-Prot), B7Z5M6 (UniProtKB/Swiss-Prot), B4DUG3 (UniProtKB/Swiss-Prot), B4DT37 (UniProtKB/Swiss-Prot), B3KUC0 (UniProtKB/Swiss-Prot), B3KT62 (UniProtKB/Swiss-Prot), Q15441 (UniProtKB/Swiss-Prot), B3KVA4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001356497 ⟸ NM_001369568
- Peptide Label:	isoform a
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001356514 ⟸ NM_001369585
- Peptide Label:	isoform u
- UniProtKB:	H3BPJ7 (UniProtKB/TrEMBL), B3KVA4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001356507 ⟸ NM_001369578
- Peptide Label:	isoform y
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001356508 ⟸ NM_001369579
- Peptide Label:	isoform 28
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001356512 ⟸ NM_001369583
- Peptide Label:	isoform m
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001356504 ⟸ NM_001369575
- Peptide Label:	isoform d
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001356502 ⟸ NM_001369573
- Peptide Label:	isoform x
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001356499 ⟸ NM_001369570
- Peptide Label:	isoform v
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001356503 ⟸ NM_001369574
- Peptide Label:	isoform 27
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001356510 ⟸ NM_001369581
- Peptide Label:	isoform y
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001356509 ⟸ NM_001369580
- Peptide Label:	isoform 28
- UniProtKB:	B3KVA4 (UniProtKB/TrEMBL)

Ensembl Acc Id:

ENSP00000381382 ⟸ ENST00000398339

Ensembl Acc Id:

ENSP00000490451 ⟸ ENST00000635822

Ensembl Acc Id:

ENSP00000490006 ⟸ ENST00000636400

Ensembl Acc Id:

ENSP00000439656 ⟸ ENST00000543082

Ensembl Acc Id:

ENSP00000490883 ⟸ ENST00000636822

Ensembl Acc Id:

ENSP00000489783 ⟸ ENST00000636751

Ensembl Acc Id:

ENSP00000490832 ⟸ ENST00000637169

Ensembl Acc Id:

ENSP00000490329 ⟸ ENST00000637923

Ensembl Acc Id:

ENSP00000441562 ⟸ ENST00000544241

Ensembl Acc Id:

ENSP00000490234 ⟸ ENST00000637115

Ensembl Acc Id:

ENSP00000455763 ⟸ ENST00000570287

Ensembl Acc Id:

ENSP00000454647 ⟸ ENST00000570177

Ensembl Acc Id:

ENSP00000468729 ⟸ ENST00000570146

Ensembl Acc Id:

ENSP00000490625 ⟸ ENST00000638154

Ensembl Acc Id:

ENSP00000487413 ⟸ ENST00000625925

Ensembl Acc Id:

ENSP00000487505 ⟸ ENST00000626631

Ensembl Acc Id:

ENSP00000486072 ⟸ ENST00000626584

Ensembl Acc Id:

ENSP00000487415 ⟸ ENST00000626595

Ensembl Acc Id:

ENSP00000486111 ⟸ ENST00000626425

Ensembl Acc Id:

ENSP00000487557 ⟸ ENST00000627320

Ensembl Acc Id:

ENSP00000487150 ⟸ ENST00000627784

Ensembl Acc Id:

ENSP00000487171 ⟸ ENST00000627685

Ensembl Acc Id:

ENSP00000486909 ⟸ ENST00000628078

Ensembl Acc Id:

ENSP00000409447 ⟸ ENST00000457482

Ensembl Acc Id:

ENSP00000485755 ⟸ ENST00000628636

Ensembl Acc Id:

ENSP00000487010 ⟸ ENST00000628689

Ensembl Acc Id:

ENSP00000457765 ⟸ ENST00000561831

Ensembl Acc Id:

ENSP00000486148 ⟸ ENST00000629343

Ensembl Acc Id:

ENSP00000486670 ⟸ ENST00000629387

Ensembl Acc Id:

ENSP00000455179 ⟸ ENST00000561992

Ensembl Acc Id:

ENSP00000454866 ⟸ ENST00000562847

Ensembl Acc Id:

ENSP00000439827 ⟸ ENST00000537856

Ensembl Acc Id:

ENSP00000478549 ⟸ ENST00000616053

Ensembl Acc Id:

ENSP00000456220 ⟸ ENST00000562030

Ensembl Acc Id:

ENSP00000456802 ⟸ ENST00000562638

Ensembl Acc Id:

ENSP00000455071 ⟸ ENST00000562607

Ensembl Acc Id:

ENSP00000455450 ⟸ ENST00000562543

Ensembl Acc Id:

ENSP00000440731 ⟸ ENST00000537578

Ensembl Acc Id:

ENSP00000457113 ⟸ ENST00000563824

Ensembl Acc Id:

ENSP00000457747 ⟸ ENST00000563888

Ensembl Acc Id:

ENSP00000454328 ⟸ ENST00000564343

Ensembl Acc Id:

ENSP00000457263 ⟸ ENST00000564403

Ensembl Acc Id:

ENSP00000455261 ⟸ ENST00000564228

Ensembl Acc Id:

ENSP00000494380 ⟸ ENST00000643689

Ensembl Acc Id:

ENSP00000346440 ⟸ ENST00000354452

Ensembl Acc Id:

ENSP00000457649 ⟸ ENST00000564999

Ensembl Acc Id:

ENSP00000454441 ⟸ ENST00000565393

Ensembl Acc Id:

ENSP00000457082 ⟸ ENST00000565124

Ensembl Acc Id:

ENSP00000455984 ⟸ ENST00000565018

Ensembl Acc Id:

ENSP00000468277 ⟸ ENST00000590810

Ensembl Acc Id:

ENSP00000486215 ⟸ ENST00000630319

Ensembl Acc Id:

ENSP00000487134 ⟸ ENST00000630224

Ensembl Acc Id:

ENSP00000486405 ⟸ ENST00000630268

Ensembl Acc Id:

ENSP00000454584 ⟸ ENST00000565908

Ensembl Acc Id:

ENSP00000456983 ⟸ ENST00000566514

Ensembl Acc Id:

ENSP00000457245 ⟸ ENST00000566777

Ensembl Acc Id:

ENSP00000486974 ⟸ ENST00000630828

Ensembl Acc Id:

ENSP00000487218 ⟸ ENST00000630720

Ensembl Acc Id:

ENSP00000487419 ⟸ ENST00000630712

Ensembl Acc Id:

ENSP00000456125 ⟸ ENST00000566279

Ensembl Acc Id:

ENSP00000455418 ⟸ ENST00000566286

Ensembl Acc Id:

ENSP00000348374 ⟸ ENST00000356073

Ensembl Acc Id:

ENSP00000454366 ⟸ ENST00000567880

Ensembl Acc Id:

ENSP00000457392 ⟸ ENST00000568169

Ensembl Acc Id:

ENSP00000458122 ⟸ ENST00000568186

Ensembl Acc Id:

ENSP00000455163 ⟸ ENST00000568147

Ensembl Acc Id:

ENSP00000455346 ⟸ ENST00000568740

Ensembl Acc Id:

ENSP00000455135 ⟸ ENST00000568673

Ensembl Acc Id:

ENSP00000454352 ⟸ ENST00000569357

Ensembl Acc Id:

ENSP00000455304 ⟸ ENST00000569012

Ensembl Acc Id:

ENSP00000445202 ⟸ ENST00000540999

Ensembl Acc Id:

ENSP00000502213 ⟸ ENST00000674764

Ensembl Acc Id:

ENSP00000501758 ⟸ ENST00000675707

Protein Domains

bHLH

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P15884-F1-model_v2	AlphaFold	P15884	1-667	view protein structure

Promoters

RGD ID:

6795015

Promoter ID:

HG_KWN:28055

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

UC002LFV.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	18	51,097,526 - 51,098,026 (-)	MPROMDB

RGD ID:

6795019

Promoter ID:

HG_KWN:28056

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

UC002LGB.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	18	51,120,351 - 51,120,851 (-)	MPROMDB

RGD ID:

6795017

Promoter ID:

HG_KWN:28057

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid

Transcripts:

UC002LFW.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	18	51,139,961 - 51,140,852 (-)	MPROMDB

RGD ID:

6795016

Promoter ID:

HG_KWN:28060

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

UC002LFY.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	18	51,328,971 - 51,329,471 (-)	MPROMDB

RGD ID:

6811468

Promoter ID:

HG_ACW:38310

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

TCF4.VCAPR07, TCF4.VMAPR07, TCF4.VOAPR07

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	18	51,405,046 - 51,405,546 (-)	MPROMDB

RGD ID:

6795013

Promoter ID:

HG_KWN:28061

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Jurkat, K562, Lymphoblastoid

Transcripts:

NM_001083962, NM_003199

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	18	51,406,311 - 51,406,932 (-)	MPROMDB

RGD ID:

6795020

Promoter ID:

HG_KWN:28062

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

UC010DPI.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	18	51,407,891 - 51,408,391 (-)	MPROMDB

RGD ID:

7237383

Promoter ID:

EPDNEW_H24437

Type:

initiation region

Name:

TCF4_5

Description:

transcription factor 4

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,302,638 - 55,302,698	EPDNEW

RGD ID:

7237385

Promoter ID:

EPDNEW_H24438

Type:

initiation region

Name:

TCF4_7

Description:

transcription factor 4

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,322,224 - 55,322,284	EPDNEW

RGD ID:

7237387

Promoter ID:

EPDNEW_H24439

Type:

initiation region

Name:

TCF4_1

Description:

transcription factor 4

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,401,688 - 55,401,748	EPDNEW

RGD ID:

7237389

Promoter ID:

EPDNEW_H24440

Type:

initiation region

Name:

TCF4_9

Description:

transcription factor 4

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,401,980 - 55,402,040	EPDNEW

RGD ID:

7237391

Promoter ID:

EPDNEW_H24441

Type:

initiation region

Name:

TCF4_4

Description:

transcription factor 4

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,403,640 - 55,403,700	EPDNEW

RGD ID:

7237393

Promoter ID:

EPDNEW_H24442

Type:

initiation region

Name:

TCF4_6

Description:

transcription factor 4

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,510,772 - 55,510,832	EPDNEW

RGD ID:

7237395

Promoter ID:

EPDNEW_H24443

Type:

initiation region

Name:

TCF4_2

Description:

transcription factor 4

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,588,192 - 55,588,252	EPDNEW

RGD ID:

7237397

Promoter ID:

EPDNEW_H24444

Type:

multiple initiation site

Name:

TCF4_3

Description:

transcription factor 4

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,588,615 - 55,588,675	EPDNEW

RGD ID:

7237399

Promoter ID:

EPDNEW_H24445

Type:

initiation region

Name:

TCF4_8

Description:

transcription factor 4

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	55,635,954 - 55,636,014	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:11634	AgrOrtholog
COSMIC	TCF4	COSMIC
Ensembl Genes	ENSG00000196628	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000354452	ENTREZGENE
	ENST00000354452.8	UniProtKB/Swiss-Prot
	ENST00000356073	ENTREZGENE
	ENST00000356073.8	UniProtKB/Swiss-Prot
	ENST00000398339	ENTREZGENE
	ENST00000457482	ENTREZGENE
	ENST00000457482.7	UniProtKB/Swiss-Prot
	ENST00000537578	ENTREZGENE
	ENST00000537578.5	UniProtKB/Swiss-Prot
	ENST00000537856	ENTREZGENE
	ENST00000537856.7	UniProtKB/Swiss-Prot
	ENST00000540999	ENTREZGENE
	ENST00000540999.5	UniProtKB/Swiss-Prot
	ENST00000543082	ENTREZGENE
	ENST00000543082.5	UniProtKB/Swiss-Prot
	ENST00000544241	ENTREZGENE
	ENST00000544241.6	UniProtKB/Swiss-Prot
	ENST00000561831	ENTREZGENE
	ENST00000561831.7	UniProtKB/Swiss-Prot
	ENST00000561992	ENTREZGENE
	ENST00000561992.5	UniProtKB/Swiss-Prot
	ENST00000564228	ENTREZGENE
	ENST00000564228.5	UniProtKB/Swiss-Prot
	ENST00000564403	ENTREZGENE
	ENST00000564999	ENTREZGENE
	ENST00000564999.5	UniProtKB/Swiss-Prot
	ENST00000565018.6	UniProtKB/Swiss-Prot
	ENST00000566279	ENTREZGENE
	ENST00000566279.5	UniProtKB/Swiss-Prot
	ENST00000566286	ENTREZGENE
	ENST00000566286.5	UniProtKB/Swiss-Prot
	ENST00000567880.5	UniProtKB/Swiss-Prot
	ENST00000568673	ENTREZGENE
	ENST00000568673.5	UniProtKB/Swiss-Prot
	ENST00000568740	ENTREZGENE
	ENST00000570177.6	UniProtKB/Swiss-Prot
	ENST00000570287	ENTREZGENE
	ENST00000570287.6	UniProtKB/Swiss-Prot
	ENST00000616053	ENTREZGENE
	ENST00000616053.4	UniProtKB/Swiss-Prot
	ENST00000626584.2	UniProtKB/Swiss-Prot
	ENST00000629387	ENTREZGENE
	ENST00000629387.2	UniProtKB/Swiss-Prot
	ENST00000636400.2	UniProtKB/Swiss-Prot
	ENST00000637169	ENTREZGENE
	ENST00000638154	ENTREZGENE
	ENST00000643689	ENTREZGENE
	ENST00000675707	ENTREZGENE
Gene3D-CATH	4.10.280.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000196628	GTEx
HGNC ID	HGNC:11634	ENTREZGENE
Human Proteome Map	TCF4	Human Proteome Map
InterPro	bHLH_dom	UniProtKB/Swiss-Prot
	HLH_DNA-bd_sf	UniProtKB/Swiss-Prot
	NeuroDiff_E-box_TFs	UniProtKB/Swiss-Prot
KEGG Report	hsa:6925	UniProtKB/Swiss-Prot
NCBI Gene	6925	ENTREZGENE
OMIM	602272	OMIM
PANTHER	BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR	UniProtKB/Swiss-Prot
	TRANSCRIPTION FACTOR 4	UniProtKB/Swiss-Prot
Pfam	HLH	UniProtKB/Swiss-Prot
PharmGKB	PA164742621	PharmGKB
PROSITE	BHLH	UniProtKB/Swiss-Prot
SMART	HLH	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF47459	UniProtKB/Swiss-Prot
UniProt	A0A075B723_HUMAN	UniProtKB/TrEMBL
	A0A0D9SEK1_HUMAN	UniProtKB/TrEMBL
	A0A0D9SEX8_HUMAN	UniProtKB/TrEMBL
	A0A0D9SEZ3_HUMAN	UniProtKB/TrEMBL
	A0A0D9SF18_HUMAN	UniProtKB/TrEMBL
	A0A0D9SF97_HUMAN	UniProtKB/TrEMBL
	A0A0D9SFU5_HUMAN	UniProtKB/TrEMBL
	A0A0D9SFX5_HUMAN	UniProtKB/TrEMBL
	A0A0D9SFZ1_HUMAN	UniProtKB/TrEMBL
	A0A0D9SG44_HUMAN	UniProtKB/TrEMBL
	A0A0D9SG55_HUMAN	UniProtKB/TrEMBL
	A0A0D9SG61_HUMAN	UniProtKB/TrEMBL
	A0A0D9SG78_HUMAN	UniProtKB/TrEMBL
	A0A0D9SGE4_HUMAN	UniProtKB/TrEMBL
	A0A0D9SGE5_HUMAN	UniProtKB/TrEMBL
	A0A0D9SGE7_HUMAN	UniProtKB/TrEMBL
	A0A0D9SGH7_HUMAN	UniProtKB/TrEMBL
	A0A0D9SGJ4_HUMAN	UniProtKB/TrEMBL
	A0A0E3D6N2_HUMAN	UniProtKB/TrEMBL
	A0A1B0GTP2_HUMAN	UniProtKB/TrEMBL
	A0A1B0GUT3_HUMAN	UniProtKB/TrEMBL
	A0A1B0GV10_HUMAN	UniProtKB/TrEMBL
	A0A1B0GVB8_HUMAN	UniProtKB/TrEMBL
	A0A1B0GVR6	ENTREZGENE, UniProtKB/TrEMBL
	A0A1B0GW91	ENTREZGENE, UniProtKB/TrEMBL
	A0A1B0GWD5	ENTREZGENE, UniProtKB/TrEMBL
	A0A1B0GXH5_HUMAN	UniProtKB/TrEMBL
	A0A6Q8PGE3_HUMAN	UniProtKB/TrEMBL
	B3KT62	ENTREZGENE
	B3KUC0	ENTREZGENE
	B3KVA4	ENTREZGENE, UniProtKB/TrEMBL
	B4DT37	ENTREZGENE
	B4DUG3	ENTREZGENE
	B7Z5M6	ENTREZGENE
	B7Z6Y1	ENTREZGENE
	E9PH57	ENTREZGENE, UniProtKB/TrEMBL
	G0LNT1_HUMAN	UniProtKB/TrEMBL
	G0LNT2_HUMAN	UniProtKB/TrEMBL
	G0LNT3_HUMAN	UniProtKB/TrEMBL
	G0LNT4_HUMAN	UniProtKB/TrEMBL
	G0LNT5_HUMAN	UniProtKB/TrEMBL
	G0LNT6_HUMAN	UniProtKB/TrEMBL
	G0LNT7_HUMAN	UniProtKB/TrEMBL
	G0LNT8_HUMAN	UniProtKB/TrEMBL
	G0LNT9	ENTREZGENE
	G0LNU0	ENTREZGENE
	G0LNU1	ENTREZGENE
	G0LNU2	ENTREZGENE
	G0LNU4	ENTREZGENE
	G0LNU5	ENTREZGENE
	G0LNU8	ENTREZGENE
	G0LNU9	ENTREZGENE
	G0LNV0	ENTREZGENE
	G0LNV1	ENTREZGENE
	G0LNV2	ENTREZGENE
	H3BMC8_HUMAN	UniProtKB/TrEMBL
	H3BME8_HUMAN	UniProtKB/TrEMBL
	H3BML7_HUMAN	UniProtKB/TrEMBL
	H3BNI2_HUMAN	UniProtKB/TrEMBL
	H3BNZ2_HUMAN	UniProtKB/TrEMBL
	H3BP59_HUMAN	UniProtKB/TrEMBL
	H3BPG3_HUMAN	UniProtKB/TrEMBL
	H3BPJ7	ENTREZGENE, UniProtKB/TrEMBL
	H3BPQ1	ENTREZGENE
	H3BRF7_HUMAN	UniProtKB/TrEMBL
	H3BT24_HUMAN	UniProtKB/TrEMBL
	H3BT95_HUMAN	UniProtKB/TrEMBL
	H3BTC3_HUMAN	UniProtKB/TrEMBL
	H3BTM9_HUMAN	UniProtKB/TrEMBL
	H3BTP3	ENTREZGENE, UniProtKB/TrEMBL
	H3BTZ0_HUMAN	UniProtKB/TrEMBL
	H3BUQ3_HUMAN	UniProtKB/TrEMBL
	ITF2_HUMAN	UniProtKB/Swiss-Prot
	K7ESI6_HUMAN	UniProtKB/TrEMBL
	P15884	ENTREZGENE
	Q08AP2	ENTREZGENE
	Q08AP3	ENTREZGENE
	Q15439	ENTREZGENE
	Q15440	ENTREZGENE
	Q15441	ENTREZGENE
UniProt Secondary	B3KT62	UniProtKB/Swiss-Prot
	B3KUC0	UniProtKB/Swiss-Prot
	B4DT37	UniProtKB/Swiss-Prot
	B4DUG3	UniProtKB/Swiss-Prot
	B7Z5M6	UniProtKB/Swiss-Prot
	B7Z6Y1	UniProtKB/Swiss-Prot
	G0LNT9	UniProtKB/Swiss-Prot
	G0LNU0	UniProtKB/Swiss-Prot
	G0LNU1	UniProtKB/Swiss-Prot
	G0LNU2	UniProtKB/Swiss-Prot
	G0LNU4	UniProtKB/Swiss-Prot
	G0LNU5	UniProtKB/Swiss-Prot
	G0LNU8	UniProtKB/Swiss-Prot
	G0LNU9	UniProtKB/Swiss-Prot
	G0LNV0	UniProtKB/Swiss-Prot
	G0LNV1	UniProtKB/Swiss-Prot
	G0LNV2	UniProtKB/Swiss-Prot
	H3BPQ1	UniProtKB/Swiss-Prot
	Q08AP2	UniProtKB/Swiss-Prot
	Q08AP3	UniProtKB/Swiss-Prot
	Q15439	UniProtKB/Swiss-Prot
	Q15440	UniProtKB/Swiss-Prot
	Q15441	UniProtKB/Swiss-Prot

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

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Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

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Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar