SERPINB8 (serpin family B member 8)

Gene: SERPINB8 (serpin family B member 8) Homo sapiens

Analyze

Symbol:

SERPINB8

Name:

serpin family B member 8

RGD ID:

1320387

HGNC Page

HGNC:8952

Description:

Enables serine-type endopeptidase inhibitor activity. Involved in epithelial cell-cell adhesion. Located in cytosol. Implicated in peeling skin syndrome 5.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

C18orf53; CAP2; cytoplasmic antiproteinase 2; HMSD; HSMD-v; Minor histocompatibility protein HMSD variant form; peptidase inhibitor 8; PI-8; PI8; protease inhibitor 8 (ovalbumin type); PSS5; serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8; serpin B8; serpin peptidase inhibitor, clade B (ovalbumin), member 8

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

SERPINB8P1

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	18	63,970,081 - 64,019,779 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	18	63,970,029 - 64,019,779 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	18	61,637,315 - 61,687,013 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	18	59,788,243 - 59,807,588 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	18	59,788,242 - 59,807,587	NCBI
Celera	18	58,357,699 - 58,377,053 (+)	NCBI		Celera
Cytogenetic Map	18	q22.1	NCBI
HuRef	18	58,338,377 - 58,357,732 (+)	NCBI		HuRef
CHM1_1	18	61,633,434 - 61,652,779 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	18	64,175,116 - 64,224,810 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

chromosome 18q deletion syndrome (IAGP)

multiple congenital anomalies-hypotonia-seizures syndrome 1 (IAGP)

peeling skin syndrome (EXP)

peeling skin syndrome 5 (IAGP)

psoriasis (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

(-)-demecolcine (EXP)

1-nitropyrene (EXP)

17beta-estradiol (EXP)

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

2-hydroxypropanoic acid (EXP)

3-chloropropane-1,2-diol (ISO)

4-hydroxyphenyl retinamide (ISO)

4-nitrophenol (ISO)

9-cis-retinoic acid (EXP)

acetamide (ISO)

acrylamide (EXP)

aflatoxin B1 (EXP,ISO)

all-trans-retinoic acid (EXP)

amphetamine (ISO)

antirheumatic drug (EXP)

arsane (EXP)

arsenic atom (EXP)

atrazine (ISO)

benzo[a]pyrene (EXP)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

butanal (EXP)

cadmium atom (EXP)

cadmium dichloride (EXP)

calcitriol (EXP)

CGP 52608 (EXP)

cisplatin (EXP)

copper atom (EXP)

copper(0) (EXP)

copper(II) sulfate (EXP)

cyclosporin A (EXP)

dimethylarsinic acid (ISO)

dinophysistoxin 1 (EXP)

dioxygen (ISO)

diquat (EXP)

doxorubicin (EXP)

endosulfan (EXP,ISO)

epoxiconazole (ISO)

ethanol (ISO)

ethyl methanesulfonate (EXP)

formaldehyde (EXP)

fulvestrant (EXP)

gentamycin (ISO)

iron atom (EXP)

iron(0) (EXP)

isotretinoin (EXP)

ivermectin (EXP)

Licochalcone B (EXP)

methotrexate (ISO)

methyl methanesulfonate (EXP)

N-Nitrosopyrrolidine (EXP)

paracetamol (EXP,ISO)

pentanal (EXP)

perfluorohexanesulfonic acid (ISO)

pregnenolone 16alpha-carbonitrile (ISO)

propanal (EXP)

rac-lactic acid (EXP)

resveratrol (EXP)

rifampicin (EXP)

silicon dioxide (EXP)

silver atom (ISO)

silver(0) (ISO)

sodium arsenate (EXP)

sodium arsenite (EXP)

sotorasib (EXP)

succimer (ISO)

sunitinib (EXP)

tamibarotene (EXP)

tert-butyl hydroperoxide (EXP)

testosterone (EXP,ISO)

tetrachloromethane (ISO)

thioacetamide (ISO)

trametinib (EXP)

triptonide (ISO)

tris(2-butoxyethyl) phosphate (EXP)

urethane (EXP)

valproic acid (EXP)

vincristine (EXP)

zinc atom (EXP)

zinc(0) (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

epithelial cell-cell adhesion (IMP)

Cellular Component

collagen-containing extracellular matrix (HDA)

cytoplasm (IBA,IEA)

cytosol (IDA)

extracellular exosome (HDA)

extracellular space (IBA,IEA)

Molecular Function

protein binding (IPI)

serine-type endopeptidase inhibitor activity (IBA,IDA,IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autosomal recessive inheritance (IAGP)

Epidermal acanthosis (IAGP)

Hyperkeratosis (IAGP)

Infantile onset (IAGP)

Scaling skin (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:2690952	PMID:8530382	PMID:8761950	PMID:9268635	PMID:9402754	PMID:9417904	PMID:9442015	PMID:12417609	PMID:12477932	PMID:15231068	PMID:16493485	PMID:17207965
PMID:17567994	PMID:17975119	PMID:19023099	PMID:19188865	PMID:20379614	PMID:20953187	PMID:21873635	PMID:22837378	PMID:22939629	PMID:23533145	PMID:24172014	PMID:25963833
PMID:26186194	PMID:26344197	PMID:27476651	PMID:28344315	PMID:28514442	PMID:30021884	PMID:31980649	PMID:32513696	PMID:33961781	PMID:34732716	PMID:35831314	PMID:36134483
PMID:36215168	PMID:37272794

Genomics

Comparative Map Data

SERPINB8
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	18	63,970,081 - 64,019,779 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	18	63,970,029 - 64,019,779 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	18	61,637,315 - 61,687,013 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	18	59,788,243 - 59,807,588 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	18	59,788,242 - 59,807,587	NCBI
Celera	18	58,357,699 - 58,377,053 (+)	NCBI		Celera
Cytogenetic Map	18	q22.1	NCBI
HuRef	18	58,338,377 - 58,357,732 (+)	NCBI		HuRef
CHM1_1	18	61,633,434 - 61,652,779 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	18	64,175,116 - 64,224,810 (+)	NCBI		T2T-CHM13v2.0

Serpinb8
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	1	107,517,668 - 107,536,708 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	1	107,517,736 - 107,538,214 (+)	Ensembl		GRCm39 Ensembl
GRCm38	1	107,589,926 - 107,608,978 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	1	107,590,006 - 107,610,484 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	1	109,486,583 - 109,505,555 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	1	109,417,618 - 109,436,456 (+)	NCBI		MGSCv36	mm8
Celera	1	110,430,564 - 110,449,516 (+)	NCBI		Celera
Cytogenetic Map	1	E2.1	NCBI
cM Map	1	50.34	NCBI

Serpinb8
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	13	24,141,557 - 24,164,894 (+)	NCBI		GRCr8
mRatBN7.2	13	23,626,936 - 23,650,277 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	13	23,626,945 - 23,650,835 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	13	24,003,700 - 24,026,951 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	13	25,288,158 - 25,311,407 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	13	23,973,889 - 23,997,138 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	13	27,876,662 - 27,914,038 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	13	27,889,345 - 27,914,006 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	13	33,035,661 - 33,058,982 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	13	13,718,139 - 13,741,460 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	13	13,689,411 - 13,714,475 (+)	NCBI
Celera	13	23,473,106 - 23,496,452 (+)	NCBI		Celera
Cytogenetic Map	13	p11	NCBI

Serpinb8
(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	47,763,322 - 47,781,523 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955402	47,761,900 - 47,781,281 (+)	NCBI	ChiLan1.0	ChiLan1.0

SERPINB8
(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	81,454,672 - 81,494,845 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	18	67,167,662 - 67,484,657 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	18	57,313,562 - 57,373,502 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	18	60,634,212 - 60,684,096 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	18	60,634,206 - 60,669,118 (+)	Ensembl	panpan1.1		panPan2

SERPINB8
(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	13,213,506 - 13,223,489 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	1	13,200,602 - 13,222,943 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	14,174,267 - 14,187,709 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	13,068,163 - 13,082,065 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	13,068,049 - 13,082,039 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	13,107,196 - 13,120,647 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	13,036,467 - 13,049,898 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	13,285,466 - 13,298,939 (-)	NCBI		UU_Cfam_GSD_1.0

SERPINB8
(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	157,820,657 - 157,836,904 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	157,820,641 - 157,836,922 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	175,308,376 - 175,324,323 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

LOC103244145
(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	15,766,510 - 15,787,350 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	18	15,765,671 - 15,787,370 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666060	9,905,719 - 9,926,364 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in SERPINB8
59 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
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 18q21.31-23(chr18:56618038-80252149)x1	copy number loss	See cases [RCV000051032]	Chr18:56618038..80252149 [GRCh38] Chr18:54285269..78010032 [GRCh37] Chr18:52436267..76111023 [NCBI36] Chr18:18q21.31-23	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 18q21.33-23(chr18:63195579-80234429)x3	copy number gain	See cases [RCV000052572]	Chr18:63195579..80234429 [GRCh38] Chr18:60862812..77992312 [GRCh37] Chr18:59013792..76093303 [NCBI36] Chr18:18q21.33-23	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 18q21.31-23(chr18:56353040-80209986)x1	copy number loss	See cases [RCV000053873]	Chr18:56353040..80209986 [GRCh38] Chr18:54020271..77967869 [GRCh37] Chr18:52171269..76068860 [NCBI36] Chr18:18q21.31-23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1	copy number loss	See cases [RCV000053875]	Chr18:62999696..80209986 [GRCh38] Chr18:60666929..77967869 [GRCh37] Chr18:58817909..76068860 [NCBI36] Chr18:18q21.33-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:63988650-80252149)x1	copy number loss	See cases [RCV000053876]	Chr18:63988650..80252149 [GRCh38] Chr18:61655884..78010032 [GRCh37] Chr18:59806864..76111023 [NCBI36] Chr18:18q22.1-23	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 18q21.2-22.1(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
GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1	copy number loss	See cases [RCV000133689]	Chr18:59567681..80252149 [GRCh38] Chr18:57234913..78010032 [GRCh37] Chr18:55385893..76111023 [NCBI36] Chr18:18q21.32-23	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 18q21.33-23(chr18:63306200-80252149)x1	copy number loss	See cases [RCV000135838]	Chr18:63306200..80252149 [GRCh38] Chr18:60973433..78010032 [GRCh37] Chr18:59124413..76111023 [NCBI36] Chr18:18q21.33-23	pathogenic
GRCh38/hg38 18q21.33-22.1(chr18:63846473-66558774)x1	copy number loss	See cases [RCV000135443]	Chr18:63846473..66558774 [GRCh38] Chr18:61513707..64226011 [GRCh37] Chr18:59664687..62376991 [NCBI36] Chr18:18q21.33-22.1	pathogenic
GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1	copy number loss	See cases [RCV000135616]	Chr18:61576009..80252149 [GRCh38] Chr18:59243242..78010032 [GRCh37] Chr18:57394222..76111023 [NCBI36] Chr18:18q21.33-23	pathogenic
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 18q21.33-23(chr18:61827111-80252149)x1	copy number loss	See cases [RCV000135567]	Chr18:61827111..80252149 [GRCh38] Chr18:59494344..78010032 [GRCh37] Chr18:57645324..76111023 [NCBI36] Chr18:18q21.33-23	pathogenic\|uncertain significance
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 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
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 18q21.33-22.1(chr18:63144445-64588458)x3	copy number gain	See cases [RCV000139938]	Chr18:63144445..64588458 [GRCh38] Chr18:60811678..62255693 [GRCh37] Chr18:58962658..60406673 [NCBI36] Chr18:18q21.33-22.1	uncertain significance
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 18q21.32-23(chr18:59996934-80254946)x1	copy number loss	See cases [RCV000139669]	Chr18:59996934..80254946 [GRCh38] Chr18:57664166..78012829 [GRCh37] Chr18:55815146..76113817 [NCBI36] Chr18:18q21.32-23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:63756916-80254946)x1	copy number loss	See cases [RCV000139464]	Chr18:63756916..80254946 [GRCh38] Chr18:61424150..78012829 [GRCh37] Chr18:59575130..76113817 [NCBI36] Chr18:18q21.33-23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1	copy number loss	See cases [RCV000141429]	Chr18:61613338..80252090 [GRCh38] Chr18:59280571..78009973 [GRCh37] Chr18:57431551..76110964 [NCBI36] Chr18:18q21.33-23	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 18q21.33-22.1(chr18:63819028-66637566)x1	copy number loss	See cases [RCV000141990]	Chr18:63819028..66637566 [GRCh38] Chr18:61486262..64304803 [GRCh37] Chr18:59637242..62455783 [NCBI36] Chr18:18q21.33-22.1	uncertain significance
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 18q21.32-22.3(chr18:59909593-72609801)x3	copy number gain	See cases [RCV000143195]	Chr18:59909593..72609801 [GRCh38] Chr18:57576825..70277036 [GRCh37] Chr18:55727805..68428016 [NCBI36] Chr18:18q21.32-22.3	likely 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
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_002640.4(SERPINB8):c.2T>C (p.Met1Thr)	single nucleotide variant	Peeling skin syndrome 5 [RCV000240808]	Chr18:63978310 [GRCh38] Chr18:61645544 [GRCh37] Chr18:18q22.1	pathogenic
NM_002640.4(SERPINB8):c.947del (p.Lys316fs)	deletion	Peeling skin syndrome 5 [RCV000240833]	Chr18:63987099 [GRCh38] Chr18:61654333 [GRCh37] Chr18:18q22.1	pathogenic
NM_002640.4(SERPINB8):c.850C>T (p.Arg284Ter)	single nucleotide variant	Peeling skin syndrome 5 [RCV000240822]\|not provided [RCV002518554]	Chr18:63987003 [GRCh38] Chr18:61654237 [GRCh37] Chr18:18q22.1	pathogenic\|likely pathogenic\|uncertain significance
Single allele	complex	Breast ductal adenocarcinoma [RCV000207027]	Chr18:61387312..63489378 [GRCh37] Chr18:18q21.33-22.1	uncertain significance
GRCh37/hg19 18q21.32-22.2(chr18:58014591-68158862)x1	copy number loss	See cases [RCV000240432]	Chr18:58014591..68158862 [GRCh37] Chr18:18q21.32-22.2	pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	copy number gain	See cases [RCV000240476]	Chr18:18548019..77954165 [GRCh37] Chr18:18q11.1-23	pathogenic
GRCh37/hg19 18q21.32-23(chr18:58525322-78005236)x3	copy number gain	See cases [RCV000240296]	Chr18:58525322..78005236 [GRCh37] Chr18:18q21.32-23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:59461447-78010032)x1	copy number loss	not provided [RCV000416006]	Chr18:59461447..78010032 [GRCh37] Chr18:18q21.33-23	likely pathogenic
GRCh37/hg19 18q21.31-22.3(chr18:55793243-68705548)x1	copy number loss	See cases [RCV000449209]	Chr18:55793243..68705548 [GRCh37] Chr18:18q21.31-22.3	pathogenic
GRCh37/hg19 18q21.33-23(chr18:59332806-78014123)x1	copy number loss	See cases [RCV000449163]	Chr18:59332806..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
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 18q21.33-23(chr18:60641553-78014123)x1	copy number loss	See cases [RCV000447127]	Chr18:60641553..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3	copy number gain	See cases [RCV000446047]	Chr18:136226..78014123 [GRCh37] Chr18:18p11.32-q23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:60796196-78014123)x1	copy number loss	See cases [RCV000446171]	Chr18:60796196..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	copy number gain	See cases [RCV000445851]	Chr18:163323..78005185 [GRCh37] Chr18:18p11.32-q23	pathogenic
GRCh37/hg19 18q21.33-22.1(chr18:61249958-62516230)x3	copy number gain	See cases [RCV000445966]	Chr18:61249958..62516230 [GRCh37] Chr18:18q21.33-22.1	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
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1	copy number loss	See cases [RCV000445943]	Chr18:53100584..78014123 [GRCh37] Chr18:18q21.2-23	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 18q21.2-23(chr18:52837852-77989426)x1	copy number loss	See cases [RCV000448656]	Chr18:52837852..77989426 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1	copy number loss	See cases [RCV000512059]	Chr18:54462182..78014123 [GRCh37] Chr18:18q21.31-23	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
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3	copy number gain	See cases [RCV000510655]	Chr18:47454437..78014123 [GRCh37] Chr18:18q21.1-23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:59809990-78014123)x1	copy number loss	See cases [RCV000510685]	Chr18:59809990..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3	copy number gain	See cases [RCV000511394]	Chr18:43776770..78014123 [GRCh37] Chr18:18q21.1-23	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 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
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3	copy number gain	See cases [RCV000511203]	Chr18:42930373..78014123 [GRCh37] Chr18:18q12.3-23	pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	copy number gain	See cases [RCV000511189]	Chr18:136227..78014123 [GRCh37] Chr18:18p11.32-q23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:59876469-78014123)x1	copy number loss	See cases [RCV000511105]	Chr18:59876469..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
Single allele	deletion	Deletion of long arm of chromosome 18 [RCV000768454]	Chr18:58024137..77996821 [GRCh37] Chr18:18q21.32-23	pathogenic
NM_002640.4(SERPINB8):c.362T>G (p.Phe121Cys)	single nucleotide variant	not specified [RCV004316149]	Chr18:63981776 [GRCh38] Chr18:61649010 [GRCh37] Chr18:18q22.1	uncertain significance
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3	copy number gain	See cases [RCV000512425]	Chr18:31879854..78014123 [GRCh37] Chr18:18q12.1-23	pathogenic
GRCh37/hg19 18q21.32-23(chr18:58768873-78014123)x1	copy number loss	See cases [RCV000512579]	Chr18:58768873..78014123 [GRCh37] Chr18:18q21.32-23	pathogenic
GRCh37/hg19 18q21.31-22.3(chr18:55083032-72743857)x1	copy number loss	not provided [RCV000684056]	Chr18:55083032..72743857 [GRCh37] Chr18:18q21.31-22.3	pathogenic
GRCh37/hg19 18q21.32-23(chr18:56905884-78014123)x1	copy number loss	not provided [RCV000684058]	Chr18:56905884..78014123 [GRCh37] Chr18:18q21.32-23	pathogenic
GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1	copy number loss	not provided [RCV000684059]	Chr18:55298900..78014123 [GRCh37] Chr18:18q21.31-23	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
GRCh37/hg19 18q21.33-23(chr18:60416709-78014123)x1	copy number loss	not provided [RCV000684055]	Chr18:60416709..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18q21.33-22.1(chr18:61486262-64304803)x1	copy number loss	not provided [RCV000684033]	Chr18:61486262..64304803 [GRCh37] Chr18:18q21.33-22.1	uncertain significance
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1	copy number loss	not provided [RCV000739824]	Chr18:52802515..78015180 [GRCh37] Chr18:18q21.2-23	pathogenic
NM_002640.4(SERPINB8):c.942C>T (p.Ala314=)	single nucleotide variant	not provided [RCV001679871]	Chr18:63987095 [GRCh38] Chr18:61654329 [GRCh37] Chr18:18q22.1	benign
NM_002640.4(SERPINB8):c.306+94C>T	single nucleotide variant	not provided [RCV001534568]	Chr18:63980032 [GRCh38] Chr18:61647266 [GRCh37] Chr18:18q22.1	benign
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3	copy number gain	not provided [RCV000752245]	Chr18:12842..78015180 [GRCh37] Chr18:18p11.32-q23	pathogenic
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 18q21.32-22.1(chr18:57244903-63722436)x1	copy number loss	not provided [RCV000752355]	Chr18:57244903..63722436 [GRCh37] Chr18:18q21.32-22.1	benign
GRCh37/hg19 18q21.32-23(chr18:57244903-77325446)x1	copy number loss	not provided [RCV000752356]	Chr18:57244903..77325446 [GRCh37] Chr18:18q21.32-23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:59585959-78015180)x1	copy number loss	not provided [RCV000752366]	Chr18:59585959..78015180 [GRCh37] Chr18:18q21.33-23	pathogenic
NM_002640.4(SERPINB8):c.81C>T (p.Asn27=)	single nucleotide variant	not provided [RCV000959486]	Chr18:63978389 [GRCh38] Chr18:61645623 [GRCh37] Chr18:18q22.1	benign
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1	copy number loss	not provided [RCV001007016]	Chr18:49460596..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:60098018-78014123)x1	copy number loss	not provided [RCV001007019]	Chr18:60098018..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18q21.33-22.1(chr18:61388176-62052163)x1	copy number loss	not provided [RCV000847942]	Chr18:61388176..62052163 [GRCh37] Chr18:18q21.33-22.1	uncertain significance
NM_002640.4(SERPINB8):c.307-118G>A	single nucleotide variant	not provided [RCV001686941]	Chr18:63981603 [GRCh38] Chr18:61648837 [GRCh37] Chr18:18q22.1	benign
NM_002640.4(SERPINB8):c.568-292G>A	single nucleotide variant	not provided [RCV001645381]	Chr18:63984801 [GRCh38] Chr18:61652035 [GRCh37] Chr18:18q22.1	benign
NM_002640.4(SERPINB8):c.306+307A>T	single nucleotide variant	not provided [RCV001696077]	Chr18:63980245 [GRCh38] Chr18:61647479 [GRCh37] Chr18:18q22.1	benign
NM_002640.4(SERPINB8):c.307-230C>T	single nucleotide variant	not provided [RCV001671572]	Chr18:63981491 [GRCh38] Chr18:61648725 [GRCh37] Chr18:18q22.1	benign
NM_002640.4(SERPINB8):c.203G>A (p.Arg68Gln)	single nucleotide variant	Peeling skin syndrome 5 [RCV001807493]\|not provided [RCV001667176]	Chr18:63979835 [GRCh38] Chr18:61647069 [GRCh37] Chr18:18q22.1	benign
NM_002640.4(SERPINB8):c.568-204_568-203dup	duplication	not provided [RCV001594602]	Chr18:63984880..63984881 [GRCh38] Chr18:61652114..61652115 [GRCh37] Chr18:18q22.1	benign
GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1	copy number loss	not provided [RCV001531449]	Chr18:54285235..77960815 [GRCh37] Chr18:18q21.31-23	pathogenic
GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1	copy number loss	not provided [RCV001007017]	Chr18:55458425..78014123 [GRCh37] Chr18:18q21.31-23	pathogenic
GRCh37/hg19 18q21.33-22.1(chr18:61483089-64304841)x1	copy number loss	not provided [RCV002473560]	Chr18:61483089..64304841 [GRCh37] Chr18:18q21.33-22.1	uncertain significance
NM_002640.4(SERPINB8):c.1076A>G (p.His359Arg)	single nucleotide variant	Peeling skin syndrome 5 [RCV001807429]\|not provided [RCV001595250]	Chr18:63987229 [GRCh38] Chr18:61654463 [GRCh37] Chr18:18q22.1	benign
NM_002640.4(SERPINB8):c.568-203dup	duplication	not provided [RCV001673434]	Chr18:63984880..63984881 [GRCh38] Chr18:61652114..61652115 [GRCh37] Chr18:18q22.1	benign
NM_002640.4(SERPINB8):c.720+95T>C	single nucleotide variant	not provided [RCV001657125]	Chr18:63985340 [GRCh38] Chr18:61652574 [GRCh37] Chr18:18q22.1	benign
GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1	copy number loss	not provided [RCV001007018]	Chr18:56750525..78014123 [GRCh37] Chr18:18q21.32-23	pathogenic
NM_002640.4(SERPINB8):c.721-538C>G	single nucleotide variant	not provided [RCV001667509]	Chr18:63986336 [GRCh38] Chr18:61653570 [GRCh37] Chr18:18q22.1	benign
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	copy number gain	not provided [RCV001537911]	Chr18:23626739..78014976 [GRCh37] Chr18:18q11.2-23	pathogenic
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_002640.4(SERPINB8):c.424+98A>G	single nucleotide variant	not provided [RCV001650259]	Chr18:63981936 [GRCh38] Chr18:61649170 [GRCh37] Chr18:18q22.1	benign
NM_002640.4(SERPINB8):c.910A>G (p.Thr304Ala)	single nucleotide variant	Peeling skin syndrome 5 [RCV001807447]\|not provided [RCV001619248]	Chr18:63987063 [GRCh38] Chr18:61654297 [GRCh37] Chr18:18q22.1	benign
NM_002640.4(SERPINB8):c.720+240T>G	single nucleotide variant	not provided [RCV001694241]	Chr18:63985485 [GRCh38] Chr18:61652719 [GRCh37] Chr18:18q22.1	benign
NM_002640.4(SERPINB8):c.477G>A (p.Leu159=)	single nucleotide variant	Peeling skin syndrome 5 [RCV001807497]\|not provided [RCV001672120]	Chr18:63983631 [GRCh38] Chr18:61650865 [GRCh37] Chr18:18q22.1	benign
Single allele	deletion	Deletion of long arm of chromosome 18 [RCV002280357]	Chr18:61490305..80247612 [GRCh38] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18q21.2-23(chr18:53309113-78014123)	copy number loss	not specified [RCV002052646]	Chr18:53309113..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q21.2-23(chr18:52675201-78014123)	copy number loss	not specified [RCV002052641]	Chr18:52675201..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)	copy number loss	not specified [RCV002052642]	Chr18:52837852..77989426 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q21.32-23(chr18:58305972-78014123)	copy number loss	not specified [RCV002052647]	Chr18:58305972..78014123 [GRCh37] Chr18:18q21.32-23	pathogenic
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 18q21.2-22.1(chr18:50739715-63705988)	copy number loss	not specified [RCV002052639]	Chr18:50739715..63705988 [GRCh37] Chr18:18q21.2-22.1	pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)	copy number loss	not specified [RCV002052643]	Chr18:53100584..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:59332806-78014123)	copy number loss	not specified [RCV002052649]	Chr18:59332806..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
NC_000018.9:g.(?_59713089)_(61654512_?)del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV001898809]\|not provided [RCV001909119]	Chr18:59713089..61654512 [GRCh37] Chr18:18q21.33-22.1	pathogenic\|no classifications from unflagged records
GRCh37/hg19 18q21.33-23(chr18:61289055-78014123)	copy number loss	Deletion of long arm of chromosome 18 [RCV002280712]	Chr18:61289055..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)	copy number loss	not specified [RCV002052636]	Chr18:47656799..78014123 [GRCh37] Chr18:18q21.1-23	pathogenic
NC_000018.9:g.(?_59713089)_(61654512_?)dup	duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1 [RCV002029497]	Chr18:59713089..61654512 [GRCh37] Chr18:18q21.33-22.1	uncertain significance
NM_002640.4(SERPINB8):c.254T>G (p.Leu85Trp)	single nucleotide variant	not provided [RCV002115860]	Chr18:63979886 [GRCh38] Chr18:61647120 [GRCh37] Chr18:18q22.1	benign
NM_002640.4(SERPINB8):c.568-5G>A	single nucleotide variant	not provided [RCV002114974]	Chr18:63985088 [GRCh38] Chr18:61652322 [GRCh37] Chr18:18q22.1	benign
NM_002640.4(SERPINB8):c.565G>A (p.Glu189Lys)	single nucleotide variant	not provided [RCV002119832]	Chr18:63983719 [GRCh38] Chr18:61650953 [GRCh37] Chr18:18q22.1	likely benign
GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	copy number gain	Trisomy 18 [RCV002280660]	Chr18:1..78077248 [GRCh37] Chr18:18p11.32-q23	pathogenic
GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1	copy number loss	not provided [RCV002473956]	Chr18:53624405..78014123 [GRCh37] Chr18:18q21.2-23	pathogenic
GRCh37/hg19 18q21.33-23(chr18:61520071-78014123)x1	copy number loss	not provided [RCV002472513]	Chr18:61520071..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
NM_002640.4(SERPINB8):c.988G>A (p.Ala330Thr)	single nucleotide variant	not provided [RCV003075169]\|not specified [RCV004071733]	Chr18:63987141 [GRCh38] Chr18:61654375 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.658T>C (p.Tyr220His)	single nucleotide variant	not provided [RCV002967915]\|not specified [RCV004065093]	Chr18:63985183 [GRCh38] Chr18:61652417 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.973G>T (p.Gly325Cys)	single nucleotide variant	not specified [RCV004126034]	Chr18:63987126 [GRCh38] Chr18:61654360 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.197T>C (p.Ile66Thr)	single nucleotide variant	not specified [RCV004199907]	Chr18:63979829 [GRCh38] Chr18:61647063 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.424+6A>G	single nucleotide variant	not provided [RCV002695170]	Chr18:63981844 [GRCh38] Chr18:61649078 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.659A>G (p.Tyr220Cys)	single nucleotide variant	not specified [RCV004188118]	Chr18:63985184 [GRCh38] Chr18:61652418 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.973G>A (p.Gly325Ser)	single nucleotide variant	not specified [RCV004138371]	Chr18:63987126 [GRCh38] Chr18:61654360 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.1109G>A (p.Arg370Lys)	single nucleotide variant	not specified [RCV004086324]	Chr18:63987262 [GRCh38] Chr18:61654496 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.1017G>A (p.Arg339=)	single nucleotide variant	SERPINB8-related condition [RCV003926682]\|not provided [RCV003077316]	Chr18:63987170 [GRCh38] Chr18:61654404 [GRCh37] Chr18:18q22.1	benign\|likely benign
NM_002640.4(SERPINB8):c.567+7A>G	single nucleotide variant	SERPINB8-related condition [RCV003926565]\|not provided [RCV002957586]	Chr18:63983728 [GRCh38] Chr18:61650962 [GRCh37] Chr18:18q22.1	likely benign
NM_002640.4(SERPINB8):c.766T>G (p.Ser256Ala)	single nucleotide variant	not specified [RCV004123402]	Chr18:63986919 [GRCh38] Chr18:61654153 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.685A>T (p.Ile229Phe)	single nucleotide variant	not specified [RCV004168687]	Chr18:63985210 [GRCh38] Chr18:61652444 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.918G>T (p.Lys306Asn)	single nucleotide variant	not specified [RCV004140226]	Chr18:63987071 [GRCh38] Chr18:61654305 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.624G>A (p.Ala208=)	single nucleotide variant	not provided [RCV002914552]	Chr18:63985149 [GRCh38] Chr18:61652383 [GRCh37] Chr18:18q22.1	likely benign
NM_002640.4(SERPINB8):c.695C>G (p.Pro232Arg)	single nucleotide variant	not specified [RCV004115802]	Chr18:63985220 [GRCh38] Chr18:61652454 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.1015C>T (p.Arg339Trp)	single nucleotide variant	not specified [RCV004172919]	Chr18:63987168 [GRCh38] Chr18:61654402 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.851G>A (p.Arg284Gln)	single nucleotide variant	not specified [RCV004192155]	Chr18:63987004 [GRCh38] Chr18:61654238 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.866T>C (p.Ile289Thr)	single nucleotide variant	not specified [RCV004134824]	Chr18:63987019 [GRCh38] Chr18:61654253 [GRCh37] Chr18:18q22.1	likely benign
NM_002640.4(SERPINB8):c.355T>A (p.Leu119Met)	single nucleotide variant	not provided [RCV003086640]	Chr18:63981769 [GRCh38] Chr18:61649003 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.1078C>T (p.His360Tyr)	single nucleotide variant	not specified [RCV004099344]	Chr18:63987231 [GRCh38] Chr18:61654465 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.288G>C (p.Lys96Asn)	single nucleotide variant	not specified [RCV004101031]	Chr18:63979920 [GRCh38] Chr18:61647154 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.535T>C (p.Tyr179His)	single nucleotide variant	not specified [RCV004095451]	Chr18:63983689 [GRCh38] Chr18:61650923 [GRCh37] Chr18:18q22.1	likely benign
NM_002640.4(SERPINB8):c.304C>T (p.Pro102Ser)	single nucleotide variant	not provided [RCV002939132]	Chr18:63979936 [GRCh38] Chr18:61647170 [GRCh37] Chr18:18q22.1	likely benign
NM_002640.4(SERPINB8):c.715G>A (p.Ala239Thr)	single nucleotide variant	not provided [RCV002966961]	Chr18:63985240 [GRCh38] Chr18:61652474 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.839A>G (p.Glu280Gly)	single nucleotide variant	not specified [RCV004086509]	Chr18:63986992 [GRCh38] Chr18:61654226 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.390G>A (p.Lys130=)	single nucleotide variant	not provided [RCV003067387]	Chr18:63981804 [GRCh38] Chr18:61649038 [GRCh37] Chr18:18q22.1	likely benign
NM_002640.4(SERPINB8):c.35C>G (p.Ala12Gly)	single nucleotide variant	not specified [RCV004278713]	Chr18:63978343 [GRCh38] Chr18:61645577 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.1093A>G (p.Ile365Val)	single nucleotide variant	not specified [RCV004270422]	Chr18:63987246 [GRCh38] Chr18:61654480 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.625G>C (p.Asp209His)	single nucleotide variant	not specified [RCV004282953]	Chr18:63985150 [GRCh38] Chr18:61652384 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.796G>A (p.Val266Ile)	single nucleotide variant	not specified [RCV004253829]	Chr18:63986949 [GRCh38] Chr18:61654183 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.270del (p.Asn90fs)	deletion	Peeling skin syndrome 5 [RCV003337791]	Chr18:63979902 [GRCh38] Chr18:61647136 [GRCh37] Chr18:18q22.1	likely pathogenic
NM_002640.4(SERPINB8):c.613A>G (p.Met205Val)	single nucleotide variant	not specified [RCV004365870]	Chr18:63985138 [GRCh38] Chr18:61652372 [GRCh37] Chr18:18q22.1	uncertain significance
GRCh37/hg19 18q21.33-23(chr18:60771809-78014123)x1	copy number loss	not provided [RCV003483341]	Chr18:60771809..78014123 [GRCh37] Chr18:18q21.33-23	pathogenic
NM_002640.4(SERPINB8):c.1088A>G (p.Asn363Ser)	single nucleotide variant	not provided [RCV003740364]	Chr18:63987241 [GRCh38] Chr18:61654475 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.561C>G (p.Thr187=)	single nucleotide variant	not provided [RCV003697398]	Chr18:63983715 [GRCh38] Chr18:61650949 [GRCh37] Chr18:18q22.1	likely benign
NM_002640.4(SERPINB8):c.1035A>C (p.Pro345=)	single nucleotide variant	not provided [RCV003734447]	Chr18:63987188 [GRCh38] Chr18:61654422 [GRCh37] Chr18:18q22.1	likely benign
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 18q21.32-22.3(chr18:58508272-70495604)x3	copy number gain	not specified [RCV003986100]	Chr18:58508272..70495604 [GRCh37] Chr18:18q21.32-22.3	likely pathogenic
GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1	copy number loss	not specified [RCV003987273]	Chr18:55363398..78014123 [GRCh37] Chr18:18q21.31-23	pathogenic
NM_002640.4(SERPINB8):c.86T>C (p.Phe29Ser)	single nucleotide variant	not provided [RCV003557015]	Chr18:63978394 [GRCh38] Chr18:61645628 [GRCh37] Chr18:18q22.1	benign
NM_002640.4(SERPINB8):c.708G>A (p.Thr236=)	single nucleotide variant	SERPINB8-related condition [RCV003949599]	Chr18:63985233 [GRCh38] Chr18:61652467 [GRCh37] Chr18:18q22.1	likely benign
NM_002640.4(SERPINB8):c.564C>T (p.Asn188=)	single nucleotide variant	SERPINB8-related condition [RCV003943912]	Chr18:63983718 [GRCh38] Chr18:61650952 [GRCh37] Chr18:18q22.1	likely benign
NM_002640.4(SERPINB8):c.130A>G (p.Met44Val)	single nucleotide variant	not specified [RCV004453347]	Chr18:63978438 [GRCh38] Chr18:61645672 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.790G>T (p.Val264Phe)	single nucleotide variant	not specified [RCV004453350]	Chr18:63986943 [GRCh38] Chr18:61654177 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.868G>C (p.Asp290His)	single nucleotide variant	not specified [RCV004453353]	Chr18:63987021 [GRCh38] Chr18:61654255 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.547A>G (p.Met183Val)	single nucleotide variant	not specified [RCV004453348]	Chr18:63983701 [GRCh38] Chr18:61650935 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.935A>G (p.Lys312Arg)	single nucleotide variant	not specified [RCV004453354]	Chr18:63987088 [GRCh38] Chr18:61654322 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.1022G>T (p.Ser341Ile)	single nucleotide variant	not specified [RCV004453346]	Chr18:63987175 [GRCh38] Chr18:61654409 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.809G>C (p.Arg270Thr)	single nucleotide variant	not specified [RCV004453351]	Chr18:63986962 [GRCh38] Chr18:61654196 [GRCh37] Chr18:18q22.1	uncertain significance
NM_002640.4(SERPINB8):c.851G>T (p.Arg284Leu)	single nucleotide variant	not specified [RCV004453352]	Chr18:63987004 [GRCh38] Chr18:61654238 [GRCh37] Chr18:18q22.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	3176
Count of miRNA genes:	868
Interacting mature miRNAs:	1005
Transcripts:	ENST00000295211, ENST00000353706, ENST00000397985, ENST00000397988, ENST00000441827, ENST00000448851, ENST00000493661, ENST00000542677
Prediction methods:	Microtar, Miranda, Rnahybrid
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.

Markers in Region

ECD04193

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,638,376 - 61,639,147	UniSTS	GRCh37
Build 36	18	59,789,356 - 59,790,127	RGD	NCBI36
Celera	18	58,358,812 - 58,359,583	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,339,490 - 58,340,261	UniSTS

ECD04415

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,637,482 - 61,638,246	UniSTS	GRCh37
Build 36	18	59,788,462 - 59,789,226	RGD	NCBI36
Celera	18	58,357,918 - 58,358,682	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,338,596 - 58,339,360	UniSTS

ECD08216

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,653,233 - 61,653,893	UniSTS	GRCh37
Build 36	18	59,804,213 - 59,804,873	RGD	NCBI36
Celera	18	58,373,669 - 58,374,329	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,354,348 - 58,355,008	UniSTS

ECD08540

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,653,943 - 61,654,594	UniSTS	GRCh37
Build 36	18	59,804,923 - 59,805,574	RGD	NCBI36
Celera	18	58,374,379 - 58,375,030	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,355,058 - 58,355,709	UniSTS

ECD09032

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,654,617 - 61,655,255	UniSTS	GRCh37
Build 36	18	59,805,597 - 59,806,235	RGD	NCBI36
Celera	18	58,375,053 - 58,375,700	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,355,732 - 58,356,379	UniSTS

ECD09329

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,642,887 - 61,643,518	UniSTS	GRCh37
Build 36	18	59,793,867 - 59,794,498	RGD	NCBI36
Celera	18	58,363,323 - 58,363,954	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,344,002 - 58,344,633	UniSTS

ECD09864

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,646,901 - 61,647,518	UniSTS	GRCh37
Build 36	18	59,797,881 - 59,798,498	RGD	NCBI36
Celera	18	58,367,337 - 58,367,954	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,348,016 - 58,348,633	UniSTS

ECD10029

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,646,080 - 61,646,692	UniSTS	GRCh37
Build 36	18	59,797,060 - 59,797,672	RGD	NCBI36
Celera	18	58,366,516 - 58,367,128	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,347,195 - 58,347,807	UniSTS

ECD10702

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,648,840 - 61,649,433	UniSTS	GRCh37
Build 36	18	59,799,820 - 59,800,413	RGD	NCBI36
Celera	18	58,369,276 - 58,369,869	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,349,955 - 58,350,548	UniSTS

ECD11387

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,636,353 - 61,636,926	UniSTS	GRCh37
Build 36	18	59,787,333 - 59,787,906	RGD	NCBI36
Celera	18	58,356,789 - 58,357,362	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,337,467 - 58,338,040	UniSTS

ECD11480

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,645,452 - 61,646,022	UniSTS	GRCh37
Build 36	18	59,796,432 - 59,797,002	RGD	NCBI36
Celera	18	58,365,888 - 58,366,458	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,346,567 - 58,347,137	UniSTS

ECD11687

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,649,484 - 61,650,048	UniSTS	GRCh37
Build 36	18	59,800,464 - 59,801,028	RGD	NCBI36
Celera	18	58,369,920 - 58,370,484	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,350,599 - 58,351,163	UniSTS

ECD12549

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,651,959 - 61,652,499	UniSTS	GRCh37
Build 36	18	59,802,939 - 59,803,479	RGD	NCBI36
Celera	18	58,372,395 - 58,372,935	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,353,074 - 58,353,614	UniSTS

ECD12587

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,647,697 - 61,648,236	UniSTS	GRCh37
Build 36	18	59,798,677 - 59,799,216	RGD	NCBI36
Celera	18	58,368,133 - 58,368,672	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,348,812 - 58,349,351	UniSTS

ECD13394

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,651,417 - 61,651,935	UniSTS	GRCh37
Build 36	18	59,802,397 - 59,802,915	RGD	NCBI36
Celera	18	58,371,853 - 58,372,371	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,352,532 - 58,353,050	UniSTS

ECD15871

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,641,324 - 61,641,783	UniSTS	GRCh37
Build 36	18	59,792,304 - 59,792,763	RGD	NCBI36
Celera	18	58,361,760 - 58,362,219	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,342,439 - 58,342,898	UniSTS

ECD18435

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,644,007 - 61,644,366	UniSTS	GRCh37
Build 36	18	59,794,987 - 59,795,346	RGD	NCBI36
Celera	18	58,364,443 - 58,364,802	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,345,122 - 58,345,481	UniSTS

ECD18566

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,641,861 - 61,642,215	UniSTS	GRCh37
Build 36	18	59,792,841 - 59,793,195	RGD	NCBI36
Celera	18	58,362,297 - 58,362,651	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,342,976 - 58,343,330	UniSTS

ECD18765

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,648,405 - 61,648,752	UniSTS	GRCh37
Build 36	18	59,799,385 - 59,799,732	RGD	NCBI36
Celera	18	58,368,841 - 58,369,188	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,349,520 - 58,349,867	UniSTS

ECD19374

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,650,643 - 61,650,966	UniSTS	GRCh37
Build 36	18	59,801,623 - 59,801,946	RGD	NCBI36
Celera	18	58,371,079 - 58,371,402	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,351,758 - 58,352,081	UniSTS

ECD19548

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,642,389 - 61,642,706	UniSTS	GRCh37
Build 36	18	59,793,369 - 59,793,686	RGD	NCBI36
Celera	18	58,362,825 - 58,363,142	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,343,504 - 58,343,821	UniSTS

ECD20954

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,655,838 - 61,656,103	UniSTS	GRCh37
Build 36	18	59,806,818 - 59,807,083	RGD	NCBI36
Celera	18	58,376,283 - 58,376,548	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,356,962 - 58,357,227	UniSTS

REN12075

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,635,406 - 61,635,660	UniSTS	GRCh37
Build 36	18	59,786,386 - 59,786,640	RGD	NCBI36
Celera	18	58,355,842 - 58,356,096	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,336,520 - 58,336,774	UniSTS

REN12076

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,635,637 - 61,635,869	UniSTS	GRCh37
Build 36	18	59,786,617 - 59,786,849	RGD	NCBI36
Celera	18	58,356,073 - 58,356,305	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,336,751 - 58,336,983	UniSTS

REN12077

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,635,846 - 61,636,084	UniSTS	GRCh37
Build 36	18	59,786,826 - 59,787,064	RGD	NCBI36
Celera	18	58,356,282 - 58,356,520	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,336,960 - 58,337,198	UniSTS

REN12078

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,636,056 - 61,636,304	UniSTS	GRCh37
Build 36	18	59,787,036 - 59,787,284	RGD	NCBI36
Celera	18	58,356,492 - 58,356,740	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,337,170 - 58,337,418	UniSTS

REN12079

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,636,280 - 61,636,527	UniSTS	GRCh37
Build 36	18	59,787,260 - 59,787,507	RGD	NCBI36
Celera	18	58,356,716 - 58,356,963	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,337,394 - 58,337,641	UniSTS

REN12080

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,636,490 - 61,636,731	UniSTS	GRCh37
Build 36	18	59,787,470 - 59,787,711	RGD	NCBI36
Celera	18	58,356,926 - 58,357,167	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,337,604 - 58,337,845	UniSTS

REN12081

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,636,729 - 61,636,982	UniSTS	GRCh37
Build 36	18	59,787,709 - 59,787,962	RGD	NCBI36
Celera	18	58,357,165 - 58,357,418	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,337,843 - 58,338,096	UniSTS

REN12082

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,636,972 - 61,637,198	UniSTS	GRCh37
Build 36	18	59,787,952 - 59,788,178	RGD	NCBI36
Celera	18	58,357,408 - 58,357,634	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,338,086 - 58,338,312	UniSTS

REN12083

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,637,096 - 61,637,365	UniSTS	GRCh37
Build 36	18	59,788,076 - 59,788,345	RGD	NCBI36
Celera	18	58,357,532 - 58,357,801	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,338,210 - 58,338,479	UniSTS

REN12084

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,637,324 - 61,637,565	UniSTS	GRCh37
Build 36	18	59,788,304 - 59,788,545	RGD	NCBI36
Celera	18	58,357,760 - 58,358,001	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,338,438 - 58,338,679	UniSTS

REN12085

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,637,542 - 61,637,767	UniSTS	GRCh37
Build 36	18	59,788,522 - 59,788,747	RGD	NCBI36
Celera	18	58,357,978 - 58,358,203	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,338,656 - 58,338,881	UniSTS

REN12086

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,637,748 - 61,638,002	UniSTS	GRCh37
Build 36	18	59,788,728 - 59,788,982	RGD	NCBI36
Celera	18	58,358,184 - 58,358,438	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,338,862 - 58,339,116	UniSTS

REN12087

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,637,979 - 61,638,235	UniSTS	GRCh37
Build 36	18	59,788,959 - 59,789,215	RGD	NCBI36
Celera	18	58,358,415 - 58,358,671	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,339,093 - 58,339,349	UniSTS

REN12088

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,638,231 - 61,638,491	UniSTS	GRCh37
Build 36	18	59,789,211 - 59,789,471	RGD	NCBI36
Celera	18	58,358,667 - 58,358,927	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,339,345 - 58,339,605	UniSTS

REN12089

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,638,489 - 61,638,738	UniSTS	GRCh37
Build 36	18	59,789,469 - 59,789,718	RGD	NCBI36
Celera	18	58,358,925 - 58,359,174	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,339,603 - 58,339,852	UniSTS

REN12090

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,638,733 - 61,638,969	UniSTS	GRCh37
Build 36	18	59,789,713 - 59,789,949	RGD	NCBI36
Celera	18	58,359,169 - 58,359,405	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,339,847 - 58,340,083	UniSTS

REN12091

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,638,954 - 61,639,187	UniSTS	GRCh37
Build 36	18	59,789,934 - 59,790,167	RGD	NCBI36
Celera	18	58,359,390 - 58,359,623	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,340,068 - 58,340,301	UniSTS

REN12092

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,639,164 - 61,639,429	UniSTS	GRCh37
Build 36	18	59,790,144 - 59,790,409	RGD	NCBI36
Celera	18	58,359,600 - 58,359,865	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,340,278 - 58,340,544	UniSTS

REN12093

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,639,354 - 61,639,607	UniSTS	GRCh37
Build 36	18	59,790,334 - 59,790,587	RGD	NCBI36
Celera	18	58,359,790 - 58,360,043	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,340,469 - 58,340,722	UniSTS

REN12094

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,639,581 - 61,639,814	UniSTS	GRCh37
Build 36	18	59,790,561 - 59,790,794	RGD	NCBI36
Celera	18	58,360,017 - 58,360,250	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,340,696 - 58,340,929	UniSTS

REN12095

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,639,758 - 61,640,007	UniSTS	GRCh37
Build 36	18	59,790,738 - 59,790,987	RGD	NCBI36
Celera	18	58,360,194 - 58,360,443	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,340,873 - 58,341,122	UniSTS

REN12096

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,641,322 - 61,641,564	UniSTS	GRCh37
Build 36	18	59,792,302 - 59,792,544	RGD	NCBI36
Celera	18	58,361,758 - 58,362,000	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,342,437 - 58,342,679	UniSTS

REN12097

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,641,535 - 61,641,782	UniSTS	GRCh37
Build 36	18	59,792,515 - 59,792,762	RGD	NCBI36
Celera	18	58,361,971 - 58,362,218	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,342,650 - 58,342,897	UniSTS

REN12098

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,641,757 - 61,642,003	UniSTS	GRCh37
Build 36	18	59,792,737 - 59,792,983	RGD	NCBI36
Celera	18	58,362,193 - 58,362,439	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,342,872 - 58,343,118	UniSTS

REN12099

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,641,978 - 61,642,225	UniSTS	GRCh37
Build 36	18	59,792,958 - 59,793,205	RGD	NCBI36
Celera	18	58,362,414 - 58,362,661	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,343,093 - 58,343,340	UniSTS

REN12100

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,642,192 - 61,642,442	UniSTS	GRCh37
Build 36	18	59,793,172 - 59,793,422	RGD	NCBI36
Celera	18	58,362,628 - 58,362,878	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,343,307 - 58,343,557	UniSTS

REN12101

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,642,410 - 61,642,661	UniSTS	GRCh37
Build 36	18	59,793,390 - 59,793,641	RGD	NCBI36
Celera	18	58,362,846 - 58,363,097	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,343,525 - 58,343,776	UniSTS

REN12102

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,642,626 - 61,642,874	UniSTS	GRCh37
Build 36	18	59,793,606 - 59,793,854	RGD	NCBI36
Celera	18	58,363,062 - 58,363,310	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,343,741 - 58,343,989	UniSTS

REN12103

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,642,814 - 61,643,051	UniSTS	GRCh37
Build 36	18	59,793,794 - 59,794,031	RGD	NCBI36
Celera	18	58,363,250 - 58,363,487	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,343,929 - 58,344,166	UniSTS

REN12104

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,643,027 - 61,643,261	UniSTS	GRCh37
Build 36	18	59,794,007 - 59,794,241	RGD	NCBI36
Celera	18	58,363,463 - 58,363,697	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,344,142 - 58,344,376	UniSTS

REN12105

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,643,237 - 61,643,466	UniSTS	GRCh37
Build 36	18	59,794,217 - 59,794,446	RGD	NCBI36
Celera	18	58,363,673 - 58,363,902	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,344,352 - 58,344,581	UniSTS

REN12106

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,643,449 - 61,643,698	UniSTS	GRCh37
Build 36	18	59,794,429 - 59,794,678	RGD	NCBI36
Celera	18	58,363,885 - 58,364,134	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,344,564 - 58,344,813	UniSTS

REN12107

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,643,656 - 61,643,905	UniSTS	GRCh37
Build 36	18	59,794,636 - 59,794,885	RGD	NCBI36
Celera	18	58,364,092 - 58,364,341	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,344,771 - 58,345,020	UniSTS

REN12108

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,643,882 - 61,644,110	UniSTS	GRCh37
Build 36	18	59,794,862 - 59,795,090	RGD	NCBI36
Celera	18	58,364,318 - 58,364,546	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,344,997 - 58,345,225	UniSTS

REN12109

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,644,086 - 61,644,353	UniSTS	GRCh37
Build 36	18	59,795,066 - 59,795,333	RGD	NCBI36
Celera	18	58,364,522 - 58,364,789	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,345,201 - 58,345,468	UniSTS

REN12110

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,644,324 - 61,644,548	UniSTS	GRCh37
Build 36	18	59,795,304 - 59,795,528	RGD	NCBI36
Celera	18	58,364,760 - 58,364,984	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,345,439 - 58,345,663	UniSTS

REN12111

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,644,867 - 61,645,095	UniSTS	GRCh37
Build 36	18	59,795,847 - 59,796,075	RGD	NCBI36
Celera	18	58,365,303 - 58,365,531	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,345,982 - 58,346,210	UniSTS

REN12112

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,645,072 - 61,645,308	UniSTS	GRCh37
Build 36	18	59,796,052 - 59,796,288	RGD	NCBI36
Celera	18	58,365,508 - 58,365,744	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,346,187 - 58,346,423	UniSTS

REN12113

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,645,294 - 61,645,545	UniSTS	GRCh37
Build 36	18	59,796,274 - 59,796,525	RGD	NCBI36
Celera	18	58,365,730 - 58,365,981	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,346,409 - 58,346,660	UniSTS

REN12114

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,645,531 - 61,645,776	UniSTS	GRCh37
Build 36	18	59,796,511 - 59,796,756	RGD	NCBI36
Celera	18	58,365,967 - 58,366,212	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,346,646 - 58,346,891	UniSTS

REN12115

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,645,767 - 61,646,023	UniSTS	GRCh37
Build 36	18	59,796,747 - 59,797,003	RGD	NCBI36
Celera	18	58,366,203 - 58,366,459	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,346,882 - 58,347,138	UniSTS

REN12116

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,646,006 - 61,646,258	UniSTS	GRCh37
Build 36	18	59,796,986 - 59,797,238	RGD	NCBI36
Celera	18	58,366,442 - 58,366,694	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,347,121 - 58,347,373	UniSTS

REN12117

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,646,245 - 61,646,489	UniSTS	GRCh37
Build 36	18	59,797,225 - 59,797,469	RGD	NCBI36
Celera	18	58,366,681 - 58,366,925	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,347,360 - 58,347,604	UniSTS

REN12118

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,646,465 - 61,646,689	UniSTS	GRCh37
Build 36	18	59,797,445 - 59,797,669	RGD	NCBI36
Celera	18	58,366,901 - 58,367,125	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,347,580 - 58,347,804	UniSTS

REN12119

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,646,646 - 61,646,916	UniSTS	GRCh37
Build 36	18	59,797,626 - 59,797,896	RGD	NCBI36
Celera	18	58,367,082 - 58,367,352	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,347,761 - 58,348,031	UniSTS

REN12120

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,646,893 - 61,647,142	UniSTS	GRCh37
Build 36	18	59,797,873 - 59,798,122	RGD	NCBI36
Celera	18	58,367,329 - 58,367,578	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,348,008 - 58,348,257	UniSTS

REN12121

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,647,119 - 61,647,368	UniSTS	GRCh37
Build 36	18	59,798,099 - 59,798,348	RGD	NCBI36
Celera	18	58,367,555 - 58,367,804	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,348,234 - 58,348,483	UniSTS

REN12122

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,647,366 - 61,647,590	UniSTS	GRCh37
Build 36	18	59,798,346 - 59,798,570	RGD	NCBI36
Celera	18	58,367,802 - 58,368,026	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,348,481 - 58,348,705	UniSTS

REN12123

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,647,587 - 61,647,836	UniSTS	GRCh37
Build 36	18	59,798,567 - 59,798,816	RGD	NCBI36
Celera	18	58,368,023 - 58,368,272	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,348,702 - 58,348,951	UniSTS

REN12124

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,647,814 - 61,648,078	UniSTS	GRCh37
Build 36	18	59,798,794 - 59,799,058	RGD	NCBI36
Celera	18	58,368,250 - 58,368,514	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,348,929 - 58,349,193	UniSTS

REN12125

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,648,055 - 61,648,298	UniSTS	GRCh37
Build 36	18	59,799,035 - 59,799,278	RGD	NCBI36
Celera	18	58,368,491 - 58,368,734	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,349,170 - 58,349,413	UniSTS

REN12126

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,648,274 - 61,648,518	UniSTS	GRCh37
Build 36	18	59,799,254 - 59,799,498	RGD	NCBI36
Celera	18	58,368,710 - 58,368,954	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,349,389 - 58,349,633	UniSTS

REN12127

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,648,483 - 61,648,732	UniSTS	GRCh37
Build 36	18	59,799,463 - 59,799,712	RGD	NCBI36
Celera	18	58,368,919 - 58,369,168	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,349,598 - 58,349,847	UniSTS

REN12128

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,648,704 - 61,648,963	UniSTS	GRCh37
Build 36	18	59,799,684 - 59,799,943	RGD	NCBI36
Celera	18	58,369,140 - 58,369,399	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,349,819 - 58,350,078	UniSTS

REN12129

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,648,936 - 61,649,176	UniSTS	GRCh37
Build 36	18	59,799,916 - 59,800,156	RGD	NCBI36
Celera	18	58,369,372 - 58,369,612	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,350,051 - 58,350,291	UniSTS

REN12130

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,649,120 - 61,649,371	UniSTS	GRCh37
Build 36	18	59,800,100 - 59,800,351	RGD	NCBI36
Celera	18	58,369,556 - 58,369,807	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,350,235 - 58,350,486	UniSTS

REN12131

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,649,348 - 61,649,572	UniSTS	GRCh37
Build 36	18	59,800,328 - 59,800,552	RGD	NCBI36
Celera	18	58,369,784 - 58,370,008	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,350,463 - 58,350,687	UniSTS

REN12132

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,649,550 - 61,649,794	UniSTS	GRCh37
Build 36	18	59,800,530 - 59,800,774	RGD	NCBI36
Celera	18	58,369,986 - 58,370,230	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,350,665 - 58,350,909	UniSTS

REN12133

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,649,760 - 61,650,005	UniSTS	GRCh37
Build 36	18	59,800,740 - 59,800,985	RGD	NCBI36
Celera	18	58,370,196 - 58,370,441	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,350,875 - 58,351,120	UniSTS

REN12134

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,649,982 - 61,650,229	UniSTS	GRCh37
Build 36	18	59,800,962 - 59,801,209	RGD	NCBI36
Celera	18	58,370,418 - 58,370,665	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,351,097 - 58,351,344	UniSTS

REN12135

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,650,227 - 61,650,480	UniSTS	GRCh37
Build 36	18	59,801,207 - 59,801,460	RGD	NCBI36
Celera	18	58,370,663 - 58,370,916	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,351,342 - 58,351,595	UniSTS

REN12136

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,650,475 - 61,650,717	UniSTS	GRCh37
Build 36	18	59,801,455 - 59,801,697	RGD	NCBI36
Celera	18	58,370,911 - 58,371,153	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,351,590 - 58,351,832	UniSTS

REN12137

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,650,698 - 61,650,947	UniSTS	GRCh37
Build 36	18	59,801,678 - 59,801,927	RGD	NCBI36
Celera	18	58,371,134 - 58,371,383	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,351,813 - 58,352,062	UniSTS

REN12138

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,650,941 - 61,651,203	UniSTS	GRCh37
Build 36	18	59,801,921 - 59,802,183	RGD	NCBI36
Celera	18	58,371,377 - 58,371,639	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,352,056 - 58,352,318	UniSTS

REN12139

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,651,180 - 61,651,435	UniSTS	GRCh37
Build 36	18	59,802,160 - 59,802,415	RGD	NCBI36
Celera	18	58,371,616 - 58,371,871	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,352,295 - 58,352,550	UniSTS

REN12140

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,651,412 - 61,651,668	UniSTS	GRCh37
Build 36	18	59,802,392 - 59,802,648	RGD	NCBI36
Celera	18	58,371,848 - 58,372,104	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,352,527 - 58,352,783	UniSTS

REN12141

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,651,643 - 61,651,895	UniSTS	GRCh37
Build 36	18	59,802,623 - 59,802,875	RGD	NCBI36
Celera	18	58,372,079 - 58,372,331	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,352,758 - 58,353,010	UniSTS

REN12142

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,651,872 - 61,652,111	UniSTS	GRCh37
Build 36	18	59,802,852 - 59,803,091	RGD	NCBI36
Celera	18	58,372,308 - 58,372,547	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,352,987 - 58,353,226	UniSTS

REN12143

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,652,088 - 61,652,358	UniSTS	GRCh37
Build 36	18	59,803,068 - 59,803,338	RGD	NCBI36
Celera	18	58,372,524 - 58,372,794	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,353,203 - 58,353,473	UniSTS

REN12144

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,652,338 - 61,652,589	UniSTS	GRCh37
Build 36	18	59,803,318 - 59,803,569	RGD	NCBI36
Celera	18	58,372,774 - 58,373,025	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,353,453 - 58,353,704	UniSTS

REN12145

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,652,566 - 61,652,811	UniSTS	GRCh37
Build 36	18	59,803,546 - 59,803,791	RGD	NCBI36
Celera	18	58,373,002 - 58,373,247	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,353,681 - 58,353,926	UniSTS

REN12146

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,652,803 - 61,653,044	UniSTS	GRCh37
Build 36	18	59,803,783 - 59,804,024	RGD	NCBI36
Celera	18	58,373,239 - 58,373,480	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,353,918 - 58,354,159	UniSTS

REN12147

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,653,021 - 61,653,284	UniSTS	GRCh37
Build 36	18	59,804,001 - 59,804,264	RGD	NCBI36
Celera	18	58,373,457 - 58,373,720	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,354,136 - 58,354,399	UniSTS

REN12148

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,653,278 - 61,653,522	UniSTS	GRCh37
Build 36	18	59,804,258 - 59,804,502	RGD	NCBI36
Celera	18	58,373,714 - 58,373,958	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,354,393 - 58,354,637	UniSTS

REN12149

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,653,514 - 61,653,761	UniSTS	GRCh37
Build 36	18	59,804,494 - 59,804,741	RGD	NCBI36
Celera	18	58,373,950 - 58,374,197	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,354,629 - 58,354,876	UniSTS

REN12150

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,653,715 - 61,653,964	UniSTS	GRCh37
Build 36	18	59,804,695 - 59,804,944	RGD	NCBI36
Celera	18	58,374,151 - 58,374,400	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,354,830 - 58,355,079	UniSTS

REN12151

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,653,944 - 61,654,196	UniSTS	GRCh37
Build 36	18	59,804,924 - 59,805,176	RGD	NCBI36
Celera	18	58,374,380 - 58,374,632	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,355,059 - 58,355,311	UniSTS

REN12152

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,654,175 - 61,654,429	UniSTS	GRCh37
Build 36	18	59,805,155 - 59,805,409	RGD	NCBI36
Celera	18	58,374,611 - 58,374,865	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,355,290 - 58,355,544	UniSTS

REN12153

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,654,425 - 61,654,658	UniSTS	GRCh37
Build 36	18	59,805,405 - 59,805,638	RGD	NCBI36
Celera	18	58,374,861 - 58,375,094	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,355,540 - 58,355,773	UniSTS

REN12154

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,654,657 - 61,654,915	UniSTS	GRCh37
Build 36	18	59,805,637 - 59,805,895	RGD	NCBI36
Celera	18	58,375,093 - 58,375,360	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,355,772 - 58,356,039	UniSTS

REN12155

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,654,911 - 61,655,154	UniSTS	GRCh37
Build 36	18	59,805,891 - 59,806,134	RGD	NCBI36
Celera	18	58,375,356 - 58,375,599	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,356,035 - 58,356,278	UniSTS

REN12156

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,655,139 - 61,655,383	UniSTS	GRCh37
Build 36	18	59,806,119 - 59,806,363	RGD	NCBI36
Celera	18	58,375,584 - 58,375,828	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,356,263 - 58,356,507	UniSTS

REN12157

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,655,375 - 61,655,599	UniSTS	GRCh37
Build 36	18	59,806,355 - 59,806,579	RGD	NCBI36
Celera	18	58,375,820 - 58,376,044	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,356,499 - 58,356,723	UniSTS

REN12158

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,655,557 - 61,655,793	UniSTS	GRCh37
Build 36	18	59,806,537 - 59,806,773	RGD	NCBI36
Celera	18	58,376,002 - 58,376,238	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,356,681 - 58,356,917	UniSTS

REN12159

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,655,774 - 61,656,020	UniSTS	GRCh37
Build 36	18	59,806,754 - 59,807,000	RGD	NCBI36
Celera	18	58,376,219 - 58,376,465	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,356,898 - 58,357,144	UniSTS

REN12160

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,655,996 - 61,656,246	UniSTS	GRCh37
Build 36	18	59,806,976 - 59,807,226	RGD	NCBI36
Celera	18	58,376,441 - 58,376,691	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,357,120 - 58,357,370	UniSTS

REN12161

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,656,223 - 61,656,481	UniSTS	GRCh37
Build 36	18	59,807,203 - 59,807,461	RGD	NCBI36
Celera	18	58,376,668 - 58,376,926	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,357,347 - 58,357,605	UniSTS

REN12162

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,656,451 - 61,656,682	UniSTS	GRCh37
Build 36	18	59,807,431 - 59,807,662	RGD	NCBI36
Celera	18	58,376,896 - 58,377,127	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,357,575 - 58,357,806	UniSTS

REN12163

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,656,532 - 61,656,770	UniSTS	GRCh37
Build 36	18	59,807,512 - 59,807,750	RGD	NCBI36
Celera	18	58,376,977 - 58,377,215	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,357,656 - 58,357,894	UniSTS

RH17652

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,654,210 - 61,654,336	UniSTS	GRCh37
Build 36	18	59,805,190 - 59,805,316	RGD	NCBI36
Celera	18	58,374,646 - 58,374,772	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,355,325 - 58,355,451	UniSTS
GeneMap99-GB4 RH Map	18	427.57	UniSTS

stSG619578

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,635,993 - 61,637,106	UniSTS	GRCh37
Build 36	18	59,786,973 - 59,788,086	RGD	NCBI36
Celera	18	58,356,429 - 58,357,542	RGD
HuRef	18	58,337,107 - 58,338,220	UniSTS

stSG619579

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,637,087 - 61,638,546	UniSTS	GRCh37
Build 36	18	59,788,067 - 59,789,526	RGD	NCBI36
Celera	18	58,357,523 - 58,358,982	RGD
HuRef	18	58,338,201 - 58,339,660	UniSTS

stSG619580

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,638,225 - 61,639,229	UniSTS	GRCh37
Build 36	18	59,789,205 - 59,790,209	RGD	NCBI36
Celera	18	58,358,661 - 58,359,665	RGD
HuRef	18	58,339,339 - 58,340,343	UniSTS

stSG619581

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,641,324 - 61,642,408	UniSTS	GRCh37
Build 36	18	59,792,304 - 59,793,388	RGD	NCBI36
Celera	18	58,361,760 - 58,362,844	RGD
HuRef	18	58,342,439 - 58,343,523	UniSTS

stSG619582

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,642,398 - 61,643,502	UniSTS	GRCh37
Build 36	18	59,793,378 - 59,794,482	RGD	NCBI36
Celera	18	58,362,834 - 58,363,938	RGD
HuRef	18	58,343,513 - 58,344,617	UniSTS

stSG619583

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,643,483 - 61,644,887	UniSTS	GRCh37
Build 36	18	59,794,463 - 59,795,867	RGD	NCBI36
Celera	18	58,363,919 - 58,365,323	RGD
HuRef	18	58,344,598 - 58,346,002	UniSTS

stSG619584

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,644,902 - 61,646,261	UniSTS	GRCh37
Build 36	18	59,795,882 - 59,797,241	RGD	NCBI36
Celera	18	58,365,338 - 58,366,697	RGD
HuRef	18	58,346,017 - 58,347,376	UniSTS

stSG619585

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,646,242 - 61,647,453	UniSTS	GRCh37
Build 36	18	59,797,222 - 59,798,433	RGD	NCBI36
Celera	18	58,366,678 - 58,367,889	RGD
HuRef	18	58,347,357 - 58,348,568	UniSTS

stSG619586

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,647,476 - 61,648,631	UniSTS	GRCh37
Build 36	18	59,798,456 - 59,799,611	RGD	NCBI36
Celera	18	58,367,912 - 58,369,067	RGD
HuRef	18	58,348,591 - 58,349,746	UniSTS

stSG619587

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,648,612 - 61,650,048	UniSTS	GRCh37
Build 36	18	59,799,592 - 59,801,028	RGD	NCBI36
Celera	18	58,369,048 - 58,370,484	RGD
HuRef	18	58,349,727 - 58,351,163	UniSTS

stSG619588

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,650,029 - 61,651,441	UniSTS	GRCh37
Build 36	18	59,801,009 - 59,802,421	RGD	NCBI36
Celera	18	58,370,465 - 58,371,877	RGD
HuRef	18	58,351,144 - 58,352,556	UniSTS

stSG619589

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,651,422 - 61,652,499	UniSTS	GRCh37
Build 36	18	59,802,402 - 59,803,479	RGD	NCBI36
Celera	18	58,371,858 - 58,372,935	RGD
HuRef	18	58,352,537 - 58,353,614	UniSTS

stSG619590

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,652,479 - 61,653,588	UniSTS	GRCh37
Build 36	18	59,803,459 - 59,804,568	RGD	NCBI36
Celera	18	58,372,915 - 58,374,024	RGD
HuRef	18	58,353,594 - 58,354,703	UniSTS

stSG619591

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,653,584 - 61,655,033	UniSTS	GRCh37
Build 36	18	59,804,564 - 59,806,013	RGD	NCBI36
Celera	18	58,374,020 - 58,375,478	RGD
HuRef	18	58,354,699 - 58,356,157	UniSTS

stSG619592

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,655,014 - 61,656,041	UniSTS	GRCh37
Build 36	18	59,805,994 - 59,807,021	RGD	NCBI36
Celera	18	58,375,459 - 58,376,486	RGD
Cytogenetic Map	18	q22.1	UniSTS
HuRef	18	58,356,138 - 58,357,165	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

157

813

164

139

502

103

2159

275

221

444

327

1295

Low

2277

2078

1553

477

1396

354

1984

1839

3275

342

1232

1159

128

877

1293

Below cutoff

100

213

293

184

200

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_052876	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001031848	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001276490	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001348367	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001348368	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001348369	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001348370	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001366198	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_002640	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_198833	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_145571	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC009802	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK300391	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313782	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL708543	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC034528	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BE566411	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG611734	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ435307	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX280409	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX571754	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CA445967	(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
	DC384755	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ656055	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L40377	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U92984	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000295211 ⟹ ENSP00000295211

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	63,979,808 - 63,987,396 (+)	Ensembl

RefSeq Acc Id:

ENST00000353706 ⟹ ENSP00000331368

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	63,970,029 - 63,989,371 (+)	Ensembl

RefSeq Acc Id:

ENST00000397985 ⟹ ENSP00000381072

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	63,970,081 - 63,989,374 (+)	Ensembl

RefSeq Acc Id:

ENST00000397988 ⟹ ENSP00000381075

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	63,970,119 - 63,986,653 (+)	Ensembl

RefSeq Acc Id:

ENST00000441827 ⟹ ENSP00000393456

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	63,970,505 - 63,983,647 (+)	Ensembl

RefSeq Acc Id:

ENST00000448851 ⟹ ENSP00000414580

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	63,970,249 - 63,981,786 (+)	Ensembl

RefSeq Acc Id:

ENST00000493661 ⟹ ENSP00000478199

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	63,985,176 - 64,005,667 (+)	Ensembl

RefSeq Acc Id:

ENST00000542677 ⟹ ENSP00000438328

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	63,970,029 - 63,989,371 (+)	Ensembl

RefSeq Acc Id:

ENST00000636430 ⟹ ENSP00000489949

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	63,970,114 - 64,019,779 (+)	Ensembl

RefSeq Acc Id:

NM_001031848 ⟹ NP_001027018

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	63,970,081 - 63,986,650 (+)	NCBI
GRCh37	18	61,637,263 - 61,656,608 (+)	ENTREZGENE
Build 36	18	59,788,243 - 59,804,867 (+)	NCBI Archive
HuRef	18	58,338,377 - 58,357,732 (+)	ENTREZGENE
CHM1_1	18	61,633,434 - 61,650,058 (+)	NCBI
T2T-CHM13v2.0	18	64,175,116 - 64,191,692 (+)	NCBI

Sequence:

show sequence

AATCAAGGCGGACGTGAAGCATCTACAAAGGAGGAATAGTCAAAGCAGCAGCGGCGGCGGCGGC
GGCGGCAGCAGCAGCAGCAGCAGGAGACCTTCTCTGATGGATGACCTCTGTGAAGCAAATGGCA
CTTTTGCCATCAGCTTATTTAAAATATTGGGGGAAGAGGACAACTCAAGAAACGTATTCTTCTC
TCCCATGAGCATCTCCTCTGCCCTGGCCATGGTCTTCATGGGGGCAAAGGGAAGCACTGCAGCC
CAGATGTCCCAGGCACTTTGTTTATACAAAGACGGAGATATTCACCGAGGTTTCCAGTCACTTC
TCAGTGAAGTTAACAGAACTGGCACTCAGTACTTGCTTAGAACTGCCAACAGACTCTTTGGAGA
AAAGACGTGTGATTTCCTTCCAGACTTTAAAGAATACTGTCAGAAGTTCTATCAGGCAGAGCTG
GAGGAGTTGTCCTTTGCTGAAGACACTGAAGAGTGCAGGAAGCATATAAATGACTGGGTGGCAG
AGAAGACTGAAGGTAAGATTTCAGAGGTACTGGATGCTGGGACAGTCGATCCCCTGACAAAGCT
GGTCCTTGTGAATGCCATTTATTTCAAGGGAAAGTGGAATGAGCAATTTGACAGAAAGTACACA
AGGGGAATGCTCTTTAAAACCAACGAGGAAAAAAAGACAGTGCAGATGATGTTTAAGGAAGCTA
AGTTTAAAATGGGGTATGCGGATGAGGTACACACCCAGGTCCTGGAGCTGCCCTATGTGGAAGA
GGAGCTGAGCATGGTCATTCTGCTTCCCGATGACAACACGGACCTCGCCGTGAAAGAGTGATGG
ATCTTGAAGAATTTGAAGCTAACTCCAGGACAGGCAGAGGACAAACAAGGATGCTGATGAAGTC
TTCTTGCATTCCCCATTTCTCGTCTCATGCTCCCTTCTCATGCCTCCCTTCATCTTCAGATGAA
ACACAATTCCCTCTCTTTTACTCTGAGTTGCCCTCTGATTTAACCCTGAATAGTCCCCTCATTA
GACTCAGAAGCAGAGTTCTGAGCCATGCTCTTTGTCTTTTGTCAAACAATCTCTCCCACTCACA
GTAGTATGTATTGCATGAAGATTAATGTAATGAATTGGTTAGAATTTTCTAAACTGTTAAAAAA
TGTTTTTAACATTTGAAAGGAGTTAGGTACAAATTGTTTTTATTAAAAATTTCTGCCTGTC

hide sequence

RefSeq Acc Id:

NM_001276490 ⟹ NP_001263419

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	63,970,081 - 63,989,374 (+)	NCBI
GRCh37	18	61,637,263 - 61,656,608 (+)	NCBI
HuRef	18	58,338,377 - 58,357,732 (+)	NCBI
CHM1_1	18	61,633,434 - 61,652,779 (+)	NCBI
T2T-CHM13v2.0	18	64,175,116 - 64,194,416 (+)	NCBI

Sequence:

show sequence

AATCAAGGCGGACGTGAAGCATCTACAAAGGAGGAATAGTCAAAGCAGCAGCGGCGGCGGCGGC
GGCGGCAGCAGCAGCAGCAGCAGGAGGCACTTTGTTTATACAAAGACGGAGATATTCACCGAGG
TTTCCAGTCACTTCTCAGTGAAGTTAACAGAACTGGCACTCAGTACTTGCTTAGAACTGCCAAC
AGACTCTTTGGAGAAAAGACGTGTGATTTCCTTCCAGACTTTAAAGAATACTGTCAGAAGTTCT
ATCAGGCAGAGCTGGAGGAGTTGTCCTTTGCTGAAGACACTGAAGAGTGCAGGAAGCATATAAA
TGACTGGGTGGCAGAGAAGACTGAAGGTAAGATTTCAGAGGTACTGGATGCTGGGACAGTCGAT
CCCCTGACAAAGCTGGTCCTTGTGAATGCCATTTATTTCAAGGGAAAGTGGAATGAGCAATTTG
ACAGAAAGTACACAAGGGGAATGCTCTTTAAAACCAACGAGGAAAAAAAGACAGTGCAGATGAT
GTTTAAGGAAGCTAAGTTTAAAATGGGGTATGCGGATGAGGTACACACCCAGGTCCTGGAGCTG
CCCTATGTGGAAGAGGAGCTGAGCATGGTCATTCTGCTTCCCGATGACAACACGGACCTCGCCG
TGGTGGAAAAAGCACTTACATATGAGAAATTCAAAGCCTGGACAAATTCAGAAAAGTTGACAAA
AAGTAAGGTTCAAGTTTTCCTTCCCAGATTAAAGCTGGAGGAGAGTTATGACTTGGAGCCTTTC
CTTCGAAGATTAGGAATGATCGATGCTTTTGACGAAGCCAAGGCAGACTTTTCTGGAATGTCAA
CTGAGAAGAATGTGCCTCTGTCCAAGGTTGCCCACAAGTGCTTCGTGGAGGTCAATGAGGAAGG
CACAGAGGCTGCCGCAGCCACTGCTGTGGTCAGGAATTCCCGGTGCAGCAGAATGGAGCCAAGA
TTCTGTGCAGACCACCCTTTTCTTTTCTTCATCAGGCACCACAAAACCAACTGCATCTTGTTCT
GTGGCAGGTTCTCTTCTCCGTAAAGAGGAGCAATTGCTGTACATACCCTCCTTTCCTTCTACCT
ATCTTGCCTTAATTAACATTCCCTGTGACCTAGTTGGTGCAGTGGCTTGAATGCCAAAATAAAG
CGTGTGCACTGGATAGTGTGTGAAAGTCTTTGCTGAAAGTTCCAGAGCCATTGAGAATAACTGA
GGCCGCAGATGCATGAAATTTGGGCCTGGGAAGGCTATGCTGGTTTTGGAGTGTTTGGGGTGCC
TGCCATTGCCTCTGCCTTCACCTAAGTCTGTGCCCATTGTTTCAGGGGATCTTATGGAGCATCT
CAGGGCTTCAGGAGCCAGCCCTCTTCCATCCGCCCGGCTCTGCCCACCACCACTGCCAGGCTGA
ACAGGGGACTAGTGCCCAGGTGACACTGCACACAAAGCCAAGGGCAAACCCTATAGAGTAAAGC
TGCAGCCACCCTGTGTCTCATGTGCAGCTGAAATAGTGATCTGCTTCTGTCACTGTCACATAGA
CAGCCCTGCATGCCCCCTGTCTCACACAGTTTGTAATGAAGACAGCTCCTTCTCATCTTTCCAT
AAGCCTGAGATACAAGTTCAGGGACTCAGCAATGCACTTTAGGACTGAGCTAGGAGGCAAATAT
CTGAAGCTTGCTATGCTGTTCTTTCCATTCCTTTTCCCTCTGAAACACACAAAATACCAAAGGA
ACTTACGCAACACACCACTGAGTCCTCTAACTAATCATATGTGCTCAGACACAGCTCAAGCACA
CCCCTTAGTTAAGAAAGAACCTCCATATACATTAATTTTTTTCTGCCTAAAAATAAAATTGCGT
TGTGGCAGCAATTTGGAAACTACAGCAAAGTCTCCAAAAAAATTGAAGTCACCCACAATTCCAA
CACACAGCAATCACTGCTGTTAATAGTGATATACATCCTTCCCTATTATGTGTATGCAAATAGA
AATTTATAAGCATTTTACTACAAGTTAATCATATCCTTCAGTAGCTTATTTCTTCCCTTATGAA
AAACCTCCCTTAAGATCTTTCCAGGTCATCAATTTGATGTGCATAGTATTCCACTGTGTGGCTG
GATTTCTATAATTGAATCTAATTTTAGACAGTTTGAGTAATTAAAATTATTTCTATTAACAAAT
AATAGATTGCTAATAATATATATTATGCTGTTTTGGATATACTAAATATTTGCTCACATCCTTA
ATATATTTTTTAAAATTCCTAACAATAGTACTGTTGAGATAAAAGTTGAGCACATTTTGAGACT
TCTTCCAAATTGGTCCCTAGAAAGTTACACTGGTTTGTACTCTCACTTATGTCACTGTTTATAC
CACCACTGACTGCTGCCTGCTTTATTATTTCTTTAATGAGTTGGACTGAACAGTGGTTAATCCT
GACTCTGTTTTTGACTGACAGTTAACAGTTACATGAACCATTCATATTACAGCTCTTACTTAAA
TTTGACCAAGCCAGGATATATCTGTTAGGCCACATTCATTTAGGGATCATGTTTTCCAAAGCAG
GTTTGGGCAAAATTAATCCACAGGACTGAAAGGTATACATCTGTGAGTTTTGTTCTCACTTCCA
CCTCTAATTTGAAGAACACTTTAATTGACACAGAATACATTTCACATATTTAACCTCTACAATA
AGTTCTGACACATTTTCCATGAAACAAACCATCGCTATATTCAAGATAATGAACCTATCTATCA
TACTCCCAAATTCCTTCTTGCATCTTTGTAATTTCTCACTCTTCCTTCTCCCTCTCCCCGTCCC
ATCCCAACCACTGATCTGCTCAGGCAACTACCAATCTTCTTTCTGTCACTATAGATTAATTTGC
ATTTTTAAAGAAATTTACATACATGGAACCATACATCATCTATGCTTTGTAGTATGACTCCTGT
CACTCAGTACAATTATTTTGAGATTCATTTATGTTATTGTATGTATCAATAGTTCATCCCTTTT
ATTGGTAAGTAACATTTTTTTGTATAGGTATACCATGATTTGTTGATGAACAAATTTACCTGTT
GATGAACATTTACGTTGTTACCAAGATTTTTGCTATTGAAAATAAAGTTTTTATGAATATTTAT
ATATATA

hide sequence

RefSeq Acc Id:

NM_001348367 ⟹ NP_001335296

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	63,970,081 - 64,019,779 (+)	NCBI
T2T-CHM13v2.0	18	64,175,116 - 64,224,810 (+)	NCBI

Sequence:

show sequence

AATCAAGGCGGACGTGAAGCATCTACAAAGGAGGAATAGTCAAAGCAGCAGCGGCGGCGGCGGC
GGCGGCAGCAGCAGCAGCAGCAGGAGACCTTCTCTGATGGATGACCTCTGTGAAGCAAATGGCA
CTTTTGCCATCAGCTTATTTAAAATATTGGGGGAAGAGGACAACTCAAGAAACGTATTCTTCTC
TCCCATGAGCATCTCCTCTGCCCTGGCCATGGTCTTCATGGGGGCAAAGGGAAGCACTGCAGCC
CAGATGTCCCAGGCACTTTGTTTATACAAAGACGGAGATATTCACCGAGGTTTCCAGTCACTTC
TCAGTGAAGTTAACAGAACTGGCACTCAGTACTTGCTTAGAACTGCCAACAGACTCTTTGGAGA
AAAGACGTGTGATTTCCTTCCAGACTTTAAAGAATACTGTCAGAAGTTCTATCAGGCAGAGCTG
GAGGAGTTGTCCTTTGCTGAAGACACTGAAGAGTGCAGGAAGCATATAAATGACTGGGTGGCAG
AGAAGACTGAAGGTAAGATTTCAGAGGTACTGGATGCTGGGACAGTCGATCCCCTGACAAAGCT
GGTCCTTGTGAATGCCATTTATTTCAAGGGAAAGTGGAATGAGCAATTTGACAGAAAGTACACA
AGGGGAATGCTCTTTAAAACCAACGAGGAAAAAAAGACAGTGCAGATGATGTTTAAGGAAGCTA
AGTTTAAAATGGGGTATGCGGATGAGGTACACACCCAGGTCCTGGAGCTGCCCTATGTGGAAGA
GGAGCTGAGCATGGTCATTCTGCTTCCCGATGACAACACGGACCTCGCCGTGGATACACTGAGA
AGCACAAGCTTCTTCTGTGACATTCTTGCCAACATTATCAGCACCTGAGTTTCTAAGGATTCTA
ACCTCCATTTATGATCAAACACCAGCTGGGTGAAGATCAAGGGCGGCCCAGATGCATGAGTGCC
AACTACATCATGACTGTCACAATCTTTGTGCTGGTACAGATTTCATCTTCAGGTCTGGAGCTGT
ATAGAAAACTGCCTACTGGAAATTGTCCTTCAGATGTCTGCAGGCATTTCACACTTAACTTTCT
TTCAAAATAAAGACATTTTCCATTCCTGCATCTGCTGCACCCCATACAGCCTTCATCTGATTTA
CCTCCTGTGATTCCAGTCTGTCTGAACAGCACCATCATCCAGTCAGTTCTCCAAGCCAGAAGCC
CAGCAGTCATCTTAGACTTCTCCTTACTCTTGCCTCCTGCATCCAGTCACTTCTGTCTTCCTTG
CCTACTTGTACTGTGTGTACTGATACATCTCATAATCTGTCTTCATCTCTCTGTACCTAGGGCC
AGTGCTCTAATTCAAGTCCTCATCATTTCTCTCCTGGAAAAAGGCTGTTACTTCTTCATTCTTG
CTCCCACTTCTCCTCGACTCCATCCTCCAGATTATTGCCAGAACCAATCACAGAAATCTAATTG
AACAATACATCTGTTCACAACTTTCCAGTAGCTAACCAGTAGCTATAGGATAAACCACTCTCTT
TCACGTTATATAAGAAAAGCCTTCAGTATCTACCCCATGTTTAATACTACACTACGCTGTTAAG
ATTTATGCCACAGCAACACTGATCTACCCAGTAAGTGGTCAGTACATTTTAGTTGAATTAATAA
AGATAAGTGACAGTGTGATTTGATGGCCCATGAACTCCCGTATCAACCTCATCAATTGTCACCT
CACCATTAAAACTATCTCCTTCCA

hide sequence

RefSeq Acc Id:

NM_001348368 ⟹ NP_001335297

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	63,970,081 - 63,989,374 (+)	NCBI
T2T-CHM13v2.0	18	64,175,116 - 64,194,416 (+)	NCBI

Sequence:

show sequence

AATCAAGGCGGACGTGAAGCATCTACAAAGGAGGAATAGTCAAAGCAGCAGCGGCGGCGGCGGC
GGCGGCAGCAGCAGCAGCAGCAGGAGACCTTCTCTGATGGATGACCTCTGTGAAGCAAATGGCA
CTTTTGCCATCAGCTTATTTAAAATATTGGGGGAAGAGGACAACTCAAGAAACGTATTCTTCTC
TCCCATGAGCATCTCCTCTGCCCTGGCCATGGTCTTCATGGGGGCAAAGGGAAGCACTGCAGCC
CAGATGTCCCAGGCACTTTGTTTATACAAAGACGGAGATATTCACCGAGGTTTCCAGTCACTTC
TCAGTGAAGTTAACAGAACTGGCACTCAGTACTTGCTTAGAACTGCCAACAGACTCTTTGGAGA
AAAGACGTGTGATTTCCTTCCAGACTTTAAAGAATACTGTCAGAAGTTCTATCAGGCAGAGCTG
GAGGAGTTGTCCTTTGCTGAAGACACTGAAGAGTGCAGGAAGCATATAAATGACTGGGTGGCAG
AGAAGACTGAAGGTAAGATTTCAGAGGTACTGGATGCTGGGACAGTCGATCCCCTGACAAAGCT
GGTCCTTGTGAATGCCATTTATTTCAAGGGAAAGTGGAATGAGCAATTTGACAGAAAGTACACA
AGGGGAATGCTCTTTAAAACCAACGAGGAAAAAAAGACAGTGCAGATGATGTTTAAGGAAGCTA
AGTTTAAAATGGGGTATGCGGATGAGGTACACACCCAGGTCCTGGAGCTGCCCTATGTGGAAGA
GGAGCTGAGCATGGTCATTCTGCTTCCCGATGACAACACGGACCTCGCCGTGATTAAAGCTGGA
GGAGAGTTATGACTTGGAGCCTTTCCTTCGAAGATTAGGAATGATCGATGCTTTTGACGAAGCC
AAGGCAGACTTTTCTGGAATGTCAACTGAGAAGAATGTGCCTCTGTCCAAGGTTGCCCACAAGT
GCTTCGTGGAGGTCAATGAGGAAGGCACAGAGGCTGCCGCAGCCACTGCTGTGGTCAGGAATTC
CCGGTGCAGCAGAATGGAGCCAAGATTCTGTGCAGACCACCCTTTTCTTTTCTTCATCAGGCAC
CACAAAACCAACTGCATCTTGTTCTGTGGCAGGTTCTCTTCTCCGTAAAGAGGAGCAATTGCTG
TACATACCCTCCTTTCCTTCTACCTATCTTGCCTTAATTAACATTCCCTGTGACCTAGTTGGTG
CAGTGGCTTGAATGCCAAAATAAAGCGTGTGCACTGGATAGTGTGTGAAAGTCTTTGCTGAAAG
TTCCAGAGCCATTGAGAATAACTGAGGCCGCAGATGCATGAAATTTGGGCCTGGGAAGGCTATG
CTGGTTTTGGAGTGTTTGGGGTGCCTGCCATTGCCTCTGCCTTCACCTAAGTCTGTGCCCATTG
TTTCAGGGGATCTTATGGAGCATCTCAGGGCTTCAGGAGCCAGCCCTCTTCCATCCGCCCGGCT
CTGCCCACCACCACTGCCAGGCTGAACAGGGGACTAGTGCCCAGGTGACACTGCACACAAAGCC
AAGGGCAAACCCTATAGAGTAAAGCTGCAGCCACCCTGTGTCTCATGTGCAGCTGAAATAGTGA
TCTGCTTCTGTCACTGTCACATAGACAGCCCTGCATGCCCCCTGTCTCACACAGTTTGTAATGA
AGACAGCTCCTTCTCATCTTTCCATAAGCCTGAGATACAAGTTCAGGGACTCAGCAATGCACTT
TAGGACTGAGCTAGGAGGCAAATATCTGAAGCTTGCTATGCTGTTCTTTCCATTCCTTTTCCCT
CTGAAACACACAAAATACCAAAGGAACTTACGCAACACACCACTGAGTCCTCTAACTAATCATA
TGTGCTCAGACACAGCTCAAGCACACCCCTTAGTTAAGAAAGAACCTCCATATACATTAATTTT
TTTCTGCCTAAAAATAAAATTGCGTTGTGGCAGCAATTTGGAAACTACAGCAAAGTCTCCAAAA
AAATTGAAGTCACCCACAATTCCAACACACAGCAATCACTGCTGTTAATAGTGATATACATCCT
TCCCTATTATGTGTATGCAAATAGAAATTTATAAGCATTTTACTACAAGTTAATCATATCCTTC
AGTAGCTTATTTCTTCCCTTATGAAAAACCTCCCTTAAGATCTTTCCAGGTCATCAATTTGATG
TGCATAGTATTCCACTGTGTGGCTGGATTTCTATAATTGAATCTAATTTTAGACAGTTTGAGTA
ATTAAAATTATTTCTATTAACAAATAATAGATTGCTAATAATATATATTATGCTGTTTTGGATA
TACTAAATATTTGCTCACATCCTTAATATATTTTTTAAAATTCCTAACAATAGTACTGTTGAGA
TAAAAGTTGAGCACATTTTGAGACTTCTTCCAAATTGGTCCCTAGAAAGTTACACTGGTTTGTA
CTCTCACTTATGTCACTGTTTATACCACCACTGACTGCTGCCTGCTTTATTATTTCTTTAATGA
GTTGGACTGAACAGTGGTTAATCCTGACTCTGTTTTTGACTGACAGTTAACAGTTACATGAACC
ATTCATATTACAGCTCTTACTTAAATTTGACCAAGCCAGGATATATCTGTTAGGCCACATTCAT
TTAGGGATCATGTTTTCCAAAGCAGGTTTGGGCAAAATTAATCCACAGGACTGAAAGGTATACA
TCTGTGAGTTTTGTTCTCACTTCCACCTCTAATTTGAAGAACACTTTAATTGACACAGAATACA
TTTCACATATTTAACCTCTACAATAAGTTCTGACACATTTTCCATGAAACAAACCATCGCTATA
TTCAAGATAATGAACCTATCTATCATACTCCCAAATTCCTTCTTGCATCTTTGTAATTTCTCAC
TCTTCCTTCTCCCTCTCCCCGTCCCATCCCAACCACTGATCTGCTCAGGCAACTACCAATCTTC
TTTCTGTCACTATAGATTAATTTGCATTTTTAAAGAAATTTACATACATGGAACCATACATCAT
CTATGCTTTGTAGTATGACTCCTGTCACTCAGTACAATTATTTTGAGATTCATTTATGTTATTG
TATGTATCAATAGTTCATCCCTTTTATTGGTAAGTAACATTTTTTTGTATAGGTATACCATGAT
TTGTTGATGAACAAATTTACCTGTTGATGAACATTTACGTTGTTACCAAGATTTTTGCTATTGA
AAATAAAGTTTTTATGAATATTTATATATATA

hide sequence

RefSeq Acc Id:

NM_001348369 ⟹ NP_001335298

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	63,970,081 - 63,989,374 (+)	NCBI
T2T-CHM13v2.0	18	64,175,116 - 64,194,416 (+)	NCBI

Sequence:

show sequence

AATCAAGGCGGACGTGAAGCATCTACAAAGGAGGAATAGTCAAAGCAGCAGCGGCGGCGGCGGC
GGCGGCAGCAGCAGCAGCAGCAGGAGGTGGGGGCCTCTGCCAGACCTTCTCTGATGGATGACCT
CTGTGAAGCAAATGGCACTTTTGCCATCAGCTTATTTAAAATATTGGGGGAAGAGGACAACTCA
AGAAACGTATTCTTCTCTCCCATGAGCATCTCCTCTGCCCTGGCCATGGTCTTCATGGGGGCAA
AGGGAAGCACTGCAGCCCAGATGTCCCAGGCACTTTGTTTATACAAAGACGGAGATATTCACCG
AGGTTTCCAGTCACTTCTCAGTGAAGTTAACAGAACTGGCACTCAGTACTTGCTTAGAACTGCC
AACAGACTCTTTGGAGAAAAGACGTGTGATTTCCTTCCAGACTTTAAAGAATACTGTCAGAAGT
TCTATCAGGCAGAGCTGGAGGAGTTGTCCTTTGCTGAAGACACTGAAGAGTGCAGGAAGCATAT
AAATGACTGGGTGGCAGAGAAGACTGAAGGTAAGATTTCAGAGGTACTGGATGCTGGGACAGTC
GATCCCCTGACAAAGCTGGTCCTTGTGAATGCCATTTATTTCAAGGGAAAGTGGAATGAGCAAT
TTGACAGAAAGTACACAAGGGGAATGCTCTTTAAAACCAACGAGGAAAAAAAGACAGTGCAGAT
GATGTTTAAGGAAGCTAAGTTTAAAATGGGGTATGCGGATGAGGTACACACCCAGGTCCTGGAG
CTGCCCTATGTGGAAGAGGAGCTGAGCATGGTCATTCTGCTTCCCGATGACAACACGGACCTCG
CCGTGATTAAAGCTGGAGGAGAGTTATGACTTGGAGCCTTTCCTTCGAAGATTAGGAATGATCG
ATGCTTTTGACGAAGCCAAGGCAGACTTTTCTGGAATGTCAACTGAGAAGAATGTGCCTCTGTC
CAAGGTTGCCCACAAGTGCTTCGTGGAGGTCAATGAGGAAGGCACAGAGGCTGCCGCAGCCACT
GCTGTGGTCAGGAATTCCCGGTGCAGCAGAATGGAGCCAAGATTCTGTGCAGACCACCCTTTTC
TTTTCTTCATCAGGCACCACAAAACCAACTGCATCTTGTTCTGTGGCAGGTTCTCTTCTCCGTA
AAGAGGAGCAATTGCTGTACATACCCTCCTTTCCTTCTACCTATCTTGCCTTAATTAACATTCC
CTGTGACCTAGTTGGTGCAGTGGCTTGAATGCCAAAATAAAGCGTGTGCACTGGATAGTGTGTG
AAAGTCTTTGCTGAAAGTTCCAGAGCCATTGAGAATAACTGAGGCCGCAGATGCATGAAATTTG
GGCCTGGGAAGGCTATGCTGGTTTTGGAGTGTTTGGGGTGCCTGCCATTGCCTCTGCCTTCACC
TAAGTCTGTGCCCATTGTTTCAGGGGATCTTATGGAGCATCTCAGGGCTTCAGGAGCCAGCCCT
CTTCCATCCGCCCGGCTCTGCCCACCACCACTGCCAGGCTGAACAGGGGACTAGTGCCCAGGTG
ACACTGCACACAAAGCCAAGGGCAAACCCTATAGAGTAAAGCTGCAGCCACCCTGTGTCTCATG
TGCAGCTGAAATAGTGATCTGCTTCTGTCACTGTCACATAGACAGCCCTGCATGCCCCCTGTCT
CACACAGTTTGTAATGAAGACAGCTCCTTCTCATCTTTCCATAAGCCTGAGATACAAGTTCAGG
GACTCAGCAATGCACTTTAGGACTGAGCTAGGAGGCAAATATCTGAAGCTTGCTATGCTGTTCT
TTCCATTCCTTTTCCCTCTGAAACACACAAAATACCAAAGGAACTTACGCAACACACCACTGAG
TCCTCTAACTAATCATATGTGCTCAGACACAGCTCAAGCACACCCCTTAGTTAAGAAAGAACCT
CCATATACATTAATTTTTTTCTGCCTAAAAATAAAATTGCGTTGTGGCAGCAATTTGGAAACTA
CAGCAAAGTCTCCAAAAAAATTGAAGTCACCCACAATTCCAACACACAGCAATCACTGCTGTTA
ATAGTGATATACATCCTTCCCTATTATGTGTATGCAAATAGAAATTTATAAGCATTTTACTACA
AGTTAATCATATCCTTCAGTAGCTTATTTCTTCCCTTATGAAAAACCTCCCTTAAGATCTTTCC
AGGTCATCAATTTGATGTGCATAGTATTCCACTGTGTGGCTGGATTTCTATAATTGAATCTAAT
TTTAGACAGTTTGAGTAATTAAAATTATTTCTATTAACAAATAATAGATTGCTAATAATATATA
TTATGCTGTTTTGGATATACTAAATATTTGCTCACATCCTTAATATATTTTTTAAAATTCCTAA
CAATAGTACTGTTGAGATAAAAGTTGAGCACATTTTGAGACTTCTTCCAAATTGGTCCCTAGAA
AGTTACACTGGTTTGTACTCTCACTTATGTCACTGTTTATACCACCACTGACTGCTGCCTGCTT
TATTATTTCTTTAATGAGTTGGACTGAACAGTGGTTAATCCTGACTCTGTTTTTGACTGACAGT
TAACAGTTACATGAACCATTCATATTACAGCTCTTACTTAAATTTGACCAAGCCAGGATATATC
TGTTAGGCCACATTCATTTAGGGATCATGTTTTCCAAAGCAGGTTTGGGCAAAATTAATCCACA
GGACTGAAAGGTATACATCTGTGAGTTTTGTTCTCACTTCCACCTCTAATTTGAAGAACACTTT
AATTGACACAGAATACATTTCACATATTTAACCTCTACAATAAGTTCTGACACATTTTCCATGA
AACAAACCATCGCTATATTCAAGATAATGAACCTATCTATCATACTCCCAAATTCCTTCTTGCA
TCTTTGTAATTTCTCACTCTTCCTTCTCCCTCTCCCCGTCCCATCCCAACCACTGATCTGCTCA
GGCAACTACCAATCTTCTTTCTGTCACTATAGATTAATTTGCATTTTTAAAGAAATTTACATAC
ATGGAACCATACATCATCTATGCTTTGTAGTATGACTCCTGTCACTCAGTACAATTATTTTGAG
ATTCATTTATGTTATTGTATGTATCAATAGTTCATCCCTTTTATTGGTAAGTAACATTTTTTTG
TATAGGTATACCATGATTTGTTGATGAACAAATTTACCTGTTGATGAACATTTACGTTGTTACC
AAGATTTTTGCTATTGAAAATAAAGTTTTTATGAATATTTATATATATA

hide sequence

RefSeq Acc Id:

NM_001348370 ⟹ NP_001335299

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	63,970,081 - 63,989,374 (+)	NCBI
T2T-CHM13v2.0	18	64,175,116 - 64,194,416 (+)	NCBI

Sequence:

show sequence

AATCAAGGCGGACGTGAAGCATCTACAAAGGAGGAATAGTCAAAGCAGCAGCGGCGGCGGCGGC
GGCGGCAGCAGCAGCAGCAGCAGGAGGCACTTTGTTTATACAAAGACGGAGATATTCACCGAGG
TTTCCAGTCACTTCTCAGTGAAGTTAACAGAACTGGCACTCAGTACTTGCTTAGAACTGCCAAC
AGACTCTTTGGAGAAAAGACGTGTGATTTCCTTCCAGACTTTAAAGAATACTGTCAGAAGTTCT
ATCAGGCAGAGCTGGAGGAGTTGTCCTTTGCTGAAGACACTGAAGAGTGCAGGAAGCATATAAA
TGACTGGGTGGCAGAGAAGACTGAAGGAAAAAAAGACAGTGCAGATGATGTTTAAGGAAGCTAA
GTTTAAAATGGGGTATGCGGATGAGGTACACACCCAGGTCCTGGAGCTGCCCTATGTGGAAGAG
GAGCTGAGCATGGTCATTCTGCTTCCCGATGACAACACGGACCTCGCCGTGGTGGAAAAAGCAC
TTACATATGAGAAATTCAAAGCCTGGACAAATTCAGAAAAGTTGACAAAAAGTAAGGTTCAAGT
TTTCCTTCCCAGATTAAAGCTGGAGGAGAGTTATGACTTGGAGCCTTTCCTTCGAAGATTAGGA
ATGATCGATGCTTTTGACGAAGCCAAGGCAGACTTTTCTGGAATGTCAACTGAGAAGAATGTGC
CTCTGTCCAAGGTTGCCCACAAGTGCTTCGTGGAGGTCAATGAGGAAGGCACAGAGGCTGCCGC
AGCCACTGCTGTGGTCAGGAATTCCCGGTGCAGCAGAATGGAGCCAAGATTCTGTGCAGACCAC
CCTTTTCTTTTCTTCATCAGGCACCACAAAACCAACTGCATCTTGTTCTGTGGCAGGTTCTCTT
CTCCGTAAAGAGGAGCAATTGCTGTACATACCCTCCTTTCCTTCTACCTATCTTGCCTTAATTA
ACATTCCCTGTGACCTAGTTGGTGCAGTGGCTTGAATGCCAAAATAAAGCGTGTGCACTGGATA
GTGTGTGAAAGTCTTTGCTGAAAGTTCCAGAGCCATTGAGAATAACTGAGGCCGCAGATGCATG
AAATTTGGGCCTGGGAAGGCTATGCTGGTTTTGGAGTGTTTGGGGTGCCTGCCATTGCCTCTGC
CTTCACCTAAGTCTGTGCCCATTGTTTCAGGGGATCTTATGGAGCATCTCAGGGCTTCAGGAGC
CAGCCCTCTTCCATCCGCCCGGCTCTGCCCACCACCACTGCCAGGCTGAACAGGGGACTAGTGC
CCAGGTGACACTGCACACAAAGCCAAGGGCAAACCCTATAGAGTAAAGCTGCAGCCACCCTGTG
TCTCATGTGCAGCTGAAATAGTGATCTGCTTCTGTCACTGTCACATAGACAGCCCTGCATGCCC
CCTGTCTCACACAGTTTGTAATGAAGACAGCTCCTTCTCATCTTTCCATAAGCCTGAGATACAA
GTTCAGGGACTCAGCAATGCACTTTAGGACTGAGCTAGGAGGCAAATATCTGAAGCTTGCTATG
CTGTTCTTTCCATTCCTTTTCCCTCTGAAACACACAAAATACCAAAGGAACTTACGCAACACAC
CACTGAGTCCTCTAACTAATCATATGTGCTCAGACACAGCTCAAGCACACCCCTTAGTTAAGAA
AGAACCTCCATATACATTAATTTTTTTCTGCCTAAAAATAAAATTGCGTTGTGGCAGCAATTTG
GAAACTACAGCAAAGTCTCCAAAAAAATTGAAGTCACCCACAATTCCAACACACAGCAATCACT
GCTGTTAATAGTGATATACATCCTTCCCTATTATGTGTATGCAAATAGAAATTTATAAGCATTT
TACTACAAGTTAATCATATCCTTCAGTAGCTTATTTCTTCCCTTATGAAAAACCTCCCTTAAGA
TCTTTCCAGGTCATCAATTTGATGTGCATAGTATTCCACTGTGTGGCTGGATTTCTATAATTGA
ATCTAATTTTAGACAGTTTGAGTAATTAAAATTATTTCTATTAACAAATAATAGATTGCTAATA
ATATATATTATGCTGTTTTGGATATACTAAATATTTGCTCACATCCTTAATATATTTTTTAAAA
TTCCTAACAATAGTACTGTTGAGATAAAAGTTGAGCACATTTTGAGACTTCTTCCAAATTGGTC
CCTAGAAAGTTACACTGGTTTGTACTCTCACTTATGTCACTGTTTATACCACCACTGACTGCTG
CCTGCTTTATTATTTCTTTAATGAGTTGGACTGAACAGTGGTTAATCCTGACTCTGTTTTTGAC
TGACAGTTAACAGTTACATGAACCATTCATATTACAGCTCTTACTTAAATTTGACCAAGCCAGG
ATATATCTGTTAGGCCACATTCATTTAGGGATCATGTTTTCCAAAGCAGGTTTGGGCAAAATTA
ATCCACAGGACTGAAAGGTATACATCTGTGAGTTTTGTTCTCACTTCCACCTCTAATTTGAAGA
ACACTTTAATTGACACAGAATACATTTCACATATTTAACCTCTACAATAAGTTCTGACACATTT
TCCATGAAACAAACCATCGCTATATTCAAGATAATGAACCTATCTATCATACTCCCAAATTCCT
TCTTGCATCTTTGTAATTTCTCACTCTTCCTTCTCCCTCTCCCCGTCCCATCCCAACCACTGAT
CTGCTCAGGCAACTACCAATCTTCTTTCTGTCACTATAGATTAATTTGCATTTTTAAAGAAATT
TACATACATGGAACCATACATCATCTATGCTTTGTAGTATGACTCCTGTCACTCAGTACAATTA
TTTTGAGATTCATTTATGTTATTGTATGTATCAATAGTTCATCCCTTTTATTGGTAAGTAACAT
TTTTTTGTATAGGTATACCATGATTTGTTGATGAACAAATTTACCTGTTGATGAACATTTACGT
TGTTACCAAGATTTTTGCTATTGAAAATAAAGTTTTTATGAATATTTATATATATA

hide sequence

RefSeq Acc Id:

NM_001366198 ⟹ NP_001353127

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	63,970,081 - 63,989,374 (+)	NCBI
T2T-CHM13v2.0	18	64,175,116 - 64,194,416 (+)	NCBI

Sequence:

show sequence

AATCAAGGCGGACGTGAAGCATCTACAAAGGAGGAATAGTCAAAGCAGCAGCGGCGGCGGCGGC
GGCGGCAGCAGCAGCAGCAGCAGGAGGTGGGGGCCTCTGCCAGGTACCGGGCGGGGCAGGCACG
GAGGTGCCCAGGTTCCCGCGGAGGCCACCTCTTCCCTGGAACCTTCTCTGATGGATGACCTCTG
TGAAGCAAATGGCACTTTTGCCATCAGCTTATTTAAAATATTGGGGGAAGAGGACAACTCAAGA
AACGTATTCTTCTCTCCCATGAGCATCTCCTCTGCCCTGGCCATGGTCTTCATGGGGGCAAAGG
GAAGCACTGCAGCCCAGATGTCCCAGGCACTTTGTTTATACAAAGACGGAGATATTCACCGAGG
TTTCCAGTCACTTCTCAGTGAAGTTAACAGAACTGGCACTCAGTACTTGCTTAGAACTGCCAAC
AGACTCTTTGGAGAAAAGACGTGTGATTTCCTTCCAGACTTTAAAGAATACTGTCAGAAGTTCT
ATCAGGCAGAGCTGGAGGAGTTGTCCTTTGCTGAAGACACTGAAGAGTGCAGGAAGCATATAAA
TGACTGGGTGGCAGAGAAGACTGAAGGTAAGATTTCAGAGGTACTGGATGCTGGGACAGTCGAT
CCCCTGACAAAGCTGGTCCTTGTGAATGCCATTTATTTCAAGGGAAAGTGGAATGAGCAATTTG
ACAGAAAGTACACAAGGGGAATGCTCTTTAAAACCAACGAGGAAAAAAAGACAGTGCAGATGAT
GTTTAAGGAAGCTAAGTTTAAAATGGGGTATGCGGATGAGGTACACACCCAGGTCCTGGAGCTG
CCCTATGTGGAAGAGGAGCTGAGCATGGTCATTCTGCTTCCCGATGACAACACGGACCTCGCCG
TGGTGGAAAAAGCACTTACATATGAGAAATTCAAAGCCTGGACAAATTCAGAAAAGTTGACAAA
AAGTAAGGTTCAAGTTTTCCTTCCCAGATTAAAGCTGGAGGAGAGTTATGACTTGGAGCCTTTC
CTTCGAAGATTAGGAATGATCGATGCTTTTGACGAAGCCAAGGCAGACTTTTCTGGAATGTCAA
CTGAGAAGAATGTGCCTCTGTCCAAGGTTGCCCACAAGTGCTTCGTGGAGGTCAATGAGGAAGG
CACAGAGGCTGCCGCAGCCACTGCTGTGGTCAGGAATTCCCGGTGCAGCAGAATGGAGCCAAGA
TTCTGTGCAGACCACCCTTTTCTTTTCTTCATCAGGCACCACAAAACCAACTGCATCTTGTTCT
GTGGCAGGTTCTCTTCTCCGTAAAGAGGAGCAATTGCTGTACATACCCTCCTTTCCTTCTACCT
ATCTTGCCTTAATTAACATTCCCTGTGACCTAGTTGGTGCAGTGGCTTGAATGCCAAAATAAAG
CGTGTGCACTGGATAGTGTGTGAAAGTCTTTGCTGAAAGTTCCAGAGCCATTGAGAATAACTGA
GGCCGCAGATGCATGAAATTTGGGCCTGGGAAGGCTATGCTGGTTTTGGAGTGTTTGGGGTGCC
TGCCATTGCCTCTGCCTTCACCTAAGTCTGTGCCCATTGTTTCAGGGGATCTTATGGAGCATCT
CAGGGCTTCAGGAGCCAGCCCTCTTCCATCCGCCCGGCTCTGCCCACCACCACTGCCAGGCTGA
ACAGGGGACTAGTGCCCAGGTGACACTGCACACAAAGCCAAGGGCAAACCCTATAGAGTAAAGC
TGCAGCCACCCTGTGTCTCATGTGCAGCTGAAATAGTGATCTGCTTCTGTCACTGTCACATAGA
CAGCCCTGCATGCCCCCTGTCTCACACAGTTTGTAATGAAGACAGCTCCTTCTCATCTTTCCAT
AAGCCTGAGATACAAGTTCAGGGACTCAGCAATGCACTTTAGGACTGAGCTAGGAGGCAAATAT
CTGAAGCTTGCTATGCTGTTCTTTCCATTCCTTTTCCCTCTGAAACACACAAAATACCAAAGGA
ACTTACGCAACACACCACTGAGTCCTCTAACTAATCATATGTGCTCAGACACAGCTCAAGCACA
CCCCTTAGTTAAGAAAGAACCTCCATATACATTAATTTTTTTCTGCCTAAAAATAAAATTGCGT
TGTGGCAGCAATTTGGAAACTACAGCAAAGTCTCCAAAAAAATTGAAGTCACCCACAATTCCAA
CACACAGCAATCACTGCTGTTAATAGTGATATACATCCTTCCCTATTATGTGTATGCAAATAGA
AATTTATAAGCATTTTACTACAAGTTAATCATATCCTTCAGTAGCTTATTTCTTCCCTTATGAA
AAACCTCCCTTAAGATCTTTCCAGGTCATCAATTTGATGTGCATAGTATTCCACTGTGTGGCTG
GATTTCTATAATTGAATCTAATTTTAGACAGTTTGAGTAATTAAAATTATTTCTATTAACAAAT
AATAGATTGCTAATAATATATATTATGCTGTTTTGGATATACTAAATATTTGCTCACATCCTTA
ATATATTTTTTAAAATTCCTAACAATAGTACTGTTGAGATAAAAGTTGAGCACATTTTGAGACT
TCTTCCAAATTGGTCCCTAGAAAGTTACACTGGTTTGTACTCTCACTTATGTCACTGTTTATAC
CACCACTGACTGCTGCCTGCTTTATTATTTCTTTAATGAGTTGGACTGAACAGTGGTTAATCCT
GACTCTGTTTTTGACTGACAGTTAACAGTTACATGAACCATTCATATTACAGCTCTTACTTAAA
TTTGACCAAGCCAGGATATATCTGTTAGGCCACATTCATTTAGGGATCATGTTTTCCAAAGCAG
GTTTGGGCAAAATTAATCCACAGGACTGAAAGGTATACATCTGTGAGTTTTGTTCTCACTTCCA
CCTCTAATTTGAAGAACACTTTAATTGACACAGAATACATTTCACATATTTAACCTCTACAATA
AGTTCTGACACATTTTCCATGAAACAAACCATCGCTATATTCAAGATAATGAACCTATCTATCA
TACTCCCAAATTCCTTCTTGCATCTTTGTAATTTCTCACTCTTCCTTCTCCCTCTCCCCGTCCC
ATCCCAACCACTGATCTGCTCAGGCAACTACCAATCTTCTTTCTGTCACTATAGATTAATTTGC
ATTTTTAAAGAAATTTACATACATGGAACCATACATCATCTATGCTTTGTAGTATGACTCCTGT
CACTCAGTACAATTATTTTGAGATTCATTTATGTTATTGTATGTATCAATAGTTCATCCCTTTT
ATTGGTAAGTAACATTTTTTTGTATAGGTATACCATGATTTGTTGATGAACAAATTTACCTGTT
GATGAACATTTACGTTGTTACCAAGATTTTTGCTATTGAAAATAAAGTTTTTATGAATATTTAT
ATATATA

hide sequence

RefSeq Acc Id:

NM_002640 ⟹ NP_002631

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	63,970,081 - 63,989,374 (+)	NCBI
GRCh37	18	61,637,263 - 61,656,608 (+)	ENTREZGENE
Build 36	18	59,788,243 - 59,807,588 (+)	NCBI Archive
HuRef	18	58,338,377 - 58,357,732 (+)	ENTREZGENE
CHM1_1	18	61,633,434 - 61,652,779 (+)	NCBI
T2T-CHM13v2.0	18	64,175,116 - 64,194,416 (+)	NCBI

Sequence:

show sequence

AATCAAGGCGGACGTGAAGCATCTACAAAGGAGGAATAGTCAAAGCAGCAGCGGCGGCGGCGGC
GGCGGCAGCAGCAGCAGCAGCAGGAGACCTTCTCTGATGGATGACCTCTGTGAAGCAAATGGCA
CTTTTGCCATCAGCTTATTTAAAATATTGGGGGAAGAGGACAACTCAAGAAACGTATTCTTCTC
TCCCATGAGCATCTCCTCTGCCCTGGCCATGGTCTTCATGGGGGCAAAGGGAAGCACTGCAGCC
CAGATGTCCCAGGCACTTTGTTTATACAAAGACGGAGATATTCACCGAGGTTTCCAGTCACTTC
TCAGTGAAGTTAACAGAACTGGCACTCAGTACTTGCTTAGAACTGCCAACAGACTCTTTGGAGA
AAAGACGTGTGATTTCCTTCCAGACTTTAAAGAATACTGTCAGAAGTTCTATCAGGCAGAGCTG
GAGGAGTTGTCCTTTGCTGAAGACACTGAAGAGTGCAGGAAGCATATAAATGACTGGGTGGCAG
AGAAGACTGAAGGTAAGATTTCAGAGGTACTGGATGCTGGGACAGTCGATCCCCTGACAAAGCT
GGTCCTTGTGAATGCCATTTATTTCAAGGGAAAGTGGAATGAGCAATTTGACAGAAAGTACACA
AGGGGAATGCTCTTTAAAACCAACGAGGAAAAAAAGACAGTGCAGATGATGTTTAAGGAAGCTA
AGTTTAAAATGGGGTATGCGGATGAGGTACACACCCAGGTCCTGGAGCTGCCCTATGTGGAAGA
GGAGCTGAGCATGGTCATTCTGCTTCCCGATGACAACACGGACCTCGCCGTGGTGGAAAAAGCA
CTTACATATGAGAAATTCAAAGCCTGGACAAATTCAGAAAAGTTGACAAAAAGTAAGGTTCAAG
TTTTCCTTCCCAGATTAAAGCTGGAGGAGAGTTATGACTTGGAGCCTTTCCTTCGAAGATTAGG
AATGATCGATGCTTTTGACGAAGCCAAGGCAGACTTTTCTGGAATGTCAACTGAGAAGAATGTG
CCTCTGTCCAAGGTTGCCCACAAGTGCTTCGTGGAGGTCAATGAGGAAGGCACAGAGGCTGCCG
CAGCCACTGCTGTGGTCAGGAATTCCCGGTGCAGCAGAATGGAGCCAAGATTCTGTGCAGACCA
CCCTTTTCTTTTCTTCATCAGGCACCACAAAACCAACTGCATCTTGTTCTGTGGCAGGTTCTCT
TCTCCGTAAAGAGGAGCAATTGCTGTACATACCCTCCTTTCCTTCTACCTATCTTGCCTTAATT
AACATTCCCTGTGACCTAGTTGGTGCAGTGGCTTGAATGCCAAAATAAAGCGTGTGCACTGGAT
AGTGTGTGAAAGTCTTTGCTGAAAGTTCCAGAGCCATTGAGAATAACTGAGGCCGCAGATGCAT
GAAATTTGGGCCTGGGAAGGCTATGCTGGTTTTGGAGTGTTTGGGGTGCCTGCCATTGCCTCTG
CCTTCACCTAAGTCTGTGCCCATTGTTTCAGGGGATCTTATGGAGCATCTCAGGGCTTCAGGAG
CCAGCCCTCTTCCATCCGCCCGGCTCTGCCCACCACCACTGCCAGGCTGAACAGGGGACTAGTG
CCCAGGTGACACTGCACACAAAGCCAAGGGCAAACCCTATAGAGTAAAGCTGCAGCCACCCTGT
GTCTCATGTGCAGCTGAAATAGTGATCTGCTTCTGTCACTGTCACATAGACAGCCCTGCATGCC
CCCTGTCTCACACAGTTTGTAATGAAGACAGCTCCTTCTCATCTTTCCATAAGCCTGAGATACA
AGTTCAGGGACTCAGCAATGCACTTTAGGACTGAGCTAGGAGGCAAATATCTGAAGCTTGCTAT
GCTGTTCTTTCCATTCCTTTTCCCTCTGAAACACACAAAATACCAAAGGAACTTACGCAACACA
CCACTGAGTCCTCTAACTAATCATATGTGCTCAGACACAGCTCAAGCACACCCCTTAGTTAAGA
AAGAACCTCCATATACATTAATTTTTTTCTGCCTAAAAATAAAATTGCGTTGTGGCAGCAATTT
GGAAACTACAGCAAAGTCTCCAAAAAAATTGAAGTCACCCACAATTCCAACACACAGCAATCAC
TGCTGTTAATAGTGATATACATCCTTCCCTATTATGTGTATGCAAATAGAAATTTATAAGCATT
TTACTACAAGTTAATCATATCCTTCAGTAGCTTATTTCTTCCCTTATGAAAAACCTCCCTTAAG
ATCTTTCCAGGTCATCAATTTGATGTGCATAGTATTCCACTGTGTGGCTGGATTTCTATAATTG
AATCTAATTTTAGACAGTTTGAGTAATTAAAATTATTTCTATTAACAAATAATAGATTGCTAAT
AATATATATTATGCTGTTTTGGATATACTAAATATTTGCTCACATCCTTAATATATTTTTTAAA
ATTCCTAACAATAGTACTGTTGAGATAAAAGTTGAGCACATTTTGAGACTTCTTCCAAATTGGT
CCCTAGAAAGTTACACTGGTTTGTACTCTCACTTATGTCACTGTTTATACCACCACTGACTGCT
GCCTGCTTTATTATTTCTTTAATGAGTTGGACTGAACAGTGGTTAATCCTGACTCTGTTTTTGA
CTGACAGTTAACAGTTACATGAACCATTCATATTACAGCTCTTACTTAAATTTGACCAAGCCAG
GATATATCTGTTAGGCCACATTCATTTAGGGATCATGTTTTCCAAAGCAGGTTTGGGCAAAATT
AATCCACAGGACTGAAAGGTATACATCTGTGAGTTTTGTTCTCACTTCCACCTCTAATTTGAAG
AACACTTTAATTGACACAGAATACATTTCACATATTTAACCTCTACAATAAGTTCTGACACATT
TTCCATGAAACAAACCATCGCTATATTCAAGATAATGAACCTATCTATCATACTCCCAAATTCC
TTCTTGCATCTTTGTAATTTCTCACTCTTCCTTCTCCCTCTCCCCGTCCCATCCCAACCACTGA
TCTGCTCAGGCAACTACCAATCTTCTTTCTGTCACTATAGATTAATTTGCATTTTTAAAGAAAT
TTACATACATGGAACCATACATCATCTATGCTTTGTAGTATGACTCCTGTCACTCAGTACAATT
ATTTTGAGATTCATTTATGTTATTGTATGTATCAATAGTTCATCCCTTTTATTGGTAAGTAACA
TTTTTTTGTATAGGTATACCATGATTTGTTGATGAACAAATTTACCTGTTGATGAACATTTACG
TTGTTACCAAGATTTTTGCTATTGAAAATAAAGTTTTTATGAATATTTATATATATA

hide sequence

RefSeq Acc Id:

NM_198833 ⟹ NP_942130

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	63,970,081 - 63,989,374 (+)	NCBI
GRCh37	18	61,637,263 - 61,656,608 (+)	ENTREZGENE
Build 36	18	59,788,243 - 59,807,588 (+)	NCBI Archive
HuRef	18	58,338,377 - 58,357,732 (+)	ENTREZGENE
CHM1_1	18	61,633,434 - 61,652,779 (+)	NCBI
T2T-CHM13v2.0	18	64,175,116 - 64,194,416 (+)	NCBI

Sequence:

show sequence

AATCAAGGCGGACGTGAAGCATCTACAAAGGAGGAATAGTCAAAGCAGCAGCGGCGGCGGCGGC
GGCGGCAGCAGCAGCAGCAGCAGGAGGTGGGGGCCTCTGCCAGACCTTCTCTGATGGATGACCT
CTGTGAAGCAAATGGCACTTTTGCCATCAGCTTATTTAAAATATTGGGGGAAGAGGACAACTCA
AGAAACGTATTCTTCTCTCCCATGAGCATCTCCTCTGCCCTGGCCATGGTCTTCATGGGGGCAA
AGGGAAGCACTGCAGCCCAGATGTCCCAGGCACTTTGTTTATACAAAGACGGAGATATTCACCG
AGGTTTCCAGTCACTTCTCAGTGAAGTTAACAGAACTGGCACTCAGTACTTGCTTAGAACTGCC
AACAGACTCTTTGGAGAAAAGACGTGTGATTTCCTTCCAGACTTTAAAGAATACTGTCAGAAGT
TCTATCAGGCAGAGCTGGAGGAGTTGTCCTTTGCTGAAGACACTGAAGAGTGCAGGAAGCATAT
AAATGACTGGGTGGCAGAGAAGACTGAAGGTAAGATTTCAGAGGTACTGGATGCTGGGACAGTC
GATCCCCTGACAAAGCTGGTCCTTGTGAATGCCATTTATTTCAAGGGAAAGTGGAATGAGCAAT
TTGACAGAAAGTACACAAGGGGAATGCTCTTTAAAACCAACGAGGAAAAAAAGACAGTGCAGAT
GATGTTTAAGGAAGCTAAGTTTAAAATGGGGTATGCGGATGAGGTACACACCCAGGTCCTGGAG
CTGCCCTATGTGGAAGAGGAGCTGAGCATGGTCATTCTGCTTCCCGATGACAACACGGACCTCG
CCGTGGTGGAAAAAGCACTTACATATGAGAAATTCAAAGCCTGGACAAATTCAGAAAAGTTGAC
AAAAAGTAAGGTTCAAGTTTTCCTTCCCAGATTAAAGCTGGAGGAGAGTTATGACTTGGAGCCT
TTCCTTCGAAGATTAGGAATGATCGATGCTTTTGACGAAGCCAAGGCAGACTTTTCTGGAATGT
CAACTGAGAAGAATGTGCCTCTGTCCAAGGTTGCCCACAAGTGCTTCGTGGAGGTCAATGAGGA
AGGCACAGAGGCTGCCGCAGCCACTGCTGTGGTCAGGAATTCCCGGTGCAGCAGAATGGAGCCA
AGATTCTGTGCAGACCACCCTTTTCTTTTCTTCATCAGGCACCACAAAACCAACTGCATCTTGT
TCTGTGGCAGGTTCTCTTCTCCGTAAAGAGGAGCAATTGCTGTACATACCCTCCTTTCCTTCTA
CCTATCTTGCCTTAATTAACATTCCCTGTGACCTAGTTGGTGCAGTGGCTTGAATGCCAAAATA
AAGCGTGTGCACTGGATAGTGTGTGAAAGTCTTTGCTGAAAGTTCCAGAGCCATTGAGAATAAC
TGAGGCCGCAGATGCATGAAATTTGGGCCTGGGAAGGCTATGCTGGTTTTGGAGTGTTTGGGGT
GCCTGCCATTGCCTCTGCCTTCACCTAAGTCTGTGCCCATTGTTTCAGGGGATCTTATGGAGCA
TCTCAGGGCTTCAGGAGCCAGCCCTCTTCCATCCGCCCGGCTCTGCCCACCACCACTGCCAGGC
TGAACAGGGGACTAGTGCCCAGGTGACACTGCACACAAAGCCAAGGGCAAACCCTATAGAGTAA
AGCTGCAGCCACCCTGTGTCTCATGTGCAGCTGAAATAGTGATCTGCTTCTGTCACTGTCACAT
AGACAGCCCTGCATGCCCCCTGTCTCACACAGTTTGTAATGAAGACAGCTCCTTCTCATCTTTC
CATAAGCCTGAGATACAAGTTCAGGGACTCAGCAATGCACTTTAGGACTGAGCTAGGAGGCAAA
TATCTGAAGCTTGCTATGCTGTTCTTTCCATTCCTTTTCCCTCTGAAACACACAAAATACCAAA
GGAACTTACGCAACACACCACTGAGTCCTCTAACTAATCATATGTGCTCAGACACAGCTCAAGC
ACACCCCTTAGTTAAGAAAGAACCTCCATATACATTAATTTTTTTCTGCCTAAAAATAAAATTG
CGTTGTGGCAGCAATTTGGAAACTACAGCAAAGTCTCCAAAAAAATTGAAGTCACCCACAATTC
CAACACACAGCAATCACTGCTGTTAATAGTGATATACATCCTTCCCTATTATGTGTATGCAAAT
AGAAATTTATAAGCATTTTACTACAAGTTAATCATATCCTTCAGTAGCTTATTTCTTCCCTTAT
GAAAAACCTCCCTTAAGATCTTTCCAGGTCATCAATTTGATGTGCATAGTATTCCACTGTGTGG
CTGGATTTCTATAATTGAATCTAATTTTAGACAGTTTGAGTAATTAAAATTATTTCTATTAACA
AATAATAGATTGCTAATAATATATATTATGCTGTTTTGGATATACTAAATATTTGCTCACATCC
TTAATATATTTTTTAAAATTCCTAACAATAGTACTGTTGAGATAAAAGTTGAGCACATTTTGAG
ACTTCTTCCAAATTGGTCCCTAGAAAGTTACACTGGTTTGTACTCTCACTTATGTCACTGTTTA
TACCACCACTGACTGCTGCCTGCTTTATTATTTCTTTAATGAGTTGGACTGAACAGTGGTTAAT
CCTGACTCTGTTTTTGACTGACAGTTAACAGTTACATGAACCATTCATATTACAGCTCTTACTT
AAATTTGACCAAGCCAGGATATATCTGTTAGGCCACATTCATTTAGGGATCATGTTTTCCAAAG
CAGGTTTGGGCAAAATTAATCCACAGGACTGAAAGGTATACATCTGTGAGTTTTGTTCTCACTT
CCACCTCTAATTTGAAGAACACTTTAATTGACACAGAATACATTTCACATATTTAACCTCTACA
ATAAGTTCTGACACATTTTCCATGAAACAAACCATCGCTATATTCAAGATAATGAACCTATCTA
TCATACTCCCAAATTCCTTCTTGCATCTTTGTAATTTCTCACTCTTCCTTCTCCCTCTCCCCGT
CCCATCCCAACCACTGATCTGCTCAGGCAACTACCAATCTTCTTTCTGTCACTATAGATTAATT
TGCATTTTTAAAGAAATTTACATACATGGAACCATACATCATCTATGCTTTGTAGTATGACTCC
TGTCACTCAGTACAATTATTTTGAGATTCATTTATGTTATTGTATGTATCAATAGTTCATCCCT
TTTATTGGTAAGTAACATTTTTTTGTATAGGTATACCATGATTTGTTGATGAACAAATTTACCT
GTTGATGAACATTTACGTTGTTACCAAGATTTTTGCTATTGAAAATAAAGTTTTTATGAATATT
TATATATATA

hide sequence

RefSeq Acc Id:

NR_145571

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	63,970,081 - 63,989,374 (+)	NCBI
T2T-CHM13v2.0	18	64,175,116 - 64,194,416 (+)	NCBI

Sequence:

show sequence

AATCAAGGCGGACGTGAAGCATCTACAAAGGAGGAATAGTCAAAGCAGCAGCGGCGGCGGCGGC
GGCGGCAGCAGCAGCAGCAGCAGGAGGCACTTTGTTTATACAAAGACGGAGATATTCACCGAGG
TTTCCAGTCACTTCTCAGTGAAGTTAACAGAACTGGCACTCAGTACTTGCTTAGAACTGCCAAC
AGACTCTTTGGAGAAAAGACGTGTGATTTCCTTCCAGACTTTAAAGAATACTGTCAGAAGTTCT
ATCAGGCAGAGCTGGAGGAGTTGTCCTTTGCTGAAGACACTGAAGAGTGCAGGAAGCATATAAA
TGACTGGGTGGCAGAGAAGACTGAAGGTAAGATTTCAGAGGTACTGGATGCTGGGACAGTCGAT
CCCCTGACAAAGCTGGTCCTTGTGAATGCCATTTATTTCAAGGGAAAGTGGAATGAGCAATTTG
ACAGAAAGTACACAAGGGGAATGCTCTTTAAAACCAACGAGGAAAAAAAGACAGTGCAGATGAT
GTTTAAGGAAGCTAAGTTTAAAATGGGGTATGCGGATGAGGTACACACCCAGGTCCTGGAGCTG
CCCTATGTGGAAGAGGAGCTGAGCATGGTCATTCTGCTTCCCGATGACAACACGGACCTCGCCG
TGATTAAAGCTGGAGGAGAGTTATGACTTGGAGCCTTTCCTTCGAAGATTAGGAATGATCGATG
CTTTTGACGAAGCCAAGGCAGACTTTTCTGGAATGTCAACTGAGAAGAATGTGCCTCTGTCCAA
GGTTGCCCACAAGTGCTTCGTGGAGGTCAATGAGGAAGGCACAGAGGCTGCCGCAGCCACTGCT
GTGGTCAGGAATTCCCGGTGCAGCAGAATGGAGCCAAGATTCTGTGCAGACCACCCTTTTCTTT
TCTTCATCAGGCACCACAAAACCAACTGCATCTTGTTCTGTGGCAGGTTCTCTTCTCCGTAAAG
AGGAGCAATTGCTGTACATACCCTCCTTTCCTTCTACCTATCTTGCCTTAATTAACATTCCCTG
TGACCTAGTTGGTGCAGTGGCTTGAATGCCAAAATAAAGCGTGTGCACTGGATAGTGTGTGAAA
GTCTTTGCTGAAAGTTCCAGAGCCATTGAGAATAACTGAGGCCGCAGATGCATGAAATTTGGGC
CTGGGAAGGCTATGCTGGTTTTGGAGTGTTTGGGGTGCCTGCCATTGCCTCTGCCTTCACCTAA
GTCTGTGCCCATTGTTTCAGGGGATCTTATGGAGCATCTCAGGGCTTCAGGAGCCAGCCCTCTT
CCATCCGCCCGGCTCTGCCCACCACCACTGCCAGGCTGAACAGGGGACTAGTGCCCAGGTGACA
CTGCACACAAAGCCAAGGGCAAACCCTATAGAGTAAAGCTGCAGCCACCCTGTGTCTCATGTGC
AGCTGAAATAGTGATCTGCTTCTGTCACTGTCACATAGACAGCCCTGCATGCCCCCTGTCTCAC
ACAGTTTGTAATGAAGACAGCTCCTTCTCATCTTTCCATAAGCCTGAGATACAAGTTCAGGGAC
TCAGCAATGCACTTTAGGACTGAGCTAGGAGGCAAATATCTGAAGCTTGCTATGCTGTTCTTTC
CATTCCTTTTCCCTCTGAAACACACAAAATACCAAAGGAACTTACGCAACACACCACTGAGTCC
TCTAACTAATCATATGTGCTCAGACACAGCTCAAGCACACCCCTTAGTTAAGAAAGAACCTCCA
TATACATTAATTTTTTTCTGCCTAAAAATAAAATTGCGTTGTGGCAGCAATTTGGAAACTACAG
CAAAGTCTCCAAAAAAATTGAAGTCACCCACAATTCCAACACACAGCAATCACTGCTGTTAATA
GTGATATACATCCTTCCCTATTATGTGTATGCAAATAGAAATTTATAAGCATTTTACTACAAGT
TAATCATATCCTTCAGTAGCTTATTTCTTCCCTTATGAAAAACCTCCCTTAAGATCTTTCCAGG
TCATCAATTTGATGTGCATAGTATTCCACTGTGTGGCTGGATTTCTATAATTGAATCTAATTTT
AGACAGTTTGAGTAATTAAAATTATTTCTATTAACAAATAATAGATTGCTAATAATATATATTA
TGCTGTTTTGGATATACTAAATATTTGCTCACATCCTTAATATATTTTTTAAAATTCCTAACAA
TAGTACTGTTGAGATAAAAGTTGAGCACATTTTGAGACTTCTTCCAAATTGGTCCCTAGAAAGT
TACACTGGTTTGTACTCTCACTTATGTCACTGTTTATACCACCACTGACTGCTGCCTGCTTTAT
TATTTCTTTAATGAGTTGGACTGAACAGTGGTTAATCCTGACTCTGTTTTTGACTGACAGTTAA
CAGTTACATGAACCATTCATATTACAGCTCTTACTTAAATTTGACCAAGCCAGGATATATCTGT
TAGGCCACATTCATTTAGGGATCATGTTTTCCAAAGCAGGTTTGGGCAAAATTAATCCACAGGA
CTGAAAGGTATACATCTGTGAGTTTTGTTCTCACTTCCACCTCTAATTTGAAGAACACTTTAAT
TGACACAGAATACATTTCACATATTTAACCTCTACAATAAGTTCTGACACATTTTCCATGAAAC
AAACCATCGCTATATTCAAGATAATGAACCTATCTATCATACTCCCAAATTCCTTCTTGCATCT
TTGTAATTTCTCACTCTTCCTTCTCCCTCTCCCCGTCCCATCCCAACCACTGATCTGCTCAGGC
AACTACCAATCTTCTTTCTGTCACTATAGATTAATTTGCATTTTTAAAGAAATTTACATACATG
GAACCATACATCATCTATGCTTTGTAGTATGACTCCTGTCACTCAGTACAATTATTTTGAGATT
CATTTATGTTATTGTATGTATCAATAGTTCATCCCTTTTATTGGTAAGTAACATTTTTTTGTAT
AGGTATACCATGATTTGTTGATGAACAAATTTACCTGTTGATGAACATTTACGTTGTTACCAAG
ATTTTTGCTATTGAAAATAAAGTTTTTATGAATATTTATATATATA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001027018	(Get FASTA)	NCBI Sequence Viewer
	NP_001263419	(Get FASTA)	NCBI Sequence Viewer
	NP_001335296	(Get FASTA)	NCBI Sequence Viewer
	NP_001335297	(Get FASTA)	NCBI Sequence Viewer
	NP_001335298	(Get FASTA)	NCBI Sequence Viewer
	NP_001335299	(Get FASTA)	NCBI Sequence Viewer
	NP_001353127	(Get FASTA)	NCBI Sequence Viewer
	NP_002631	(Get FASTA)	NCBI Sequence Viewer
	NP_942130	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC41939	(Get FASTA)	NCBI Sequence Viewer
	AAH34528	(Get FASTA)	NCBI Sequence Viewer
	BAG36520	(Get FASTA)	NCBI Sequence Viewer
	BAG62124	(Get FASTA)	NCBI Sequence Viewer
	CAE11879	(Get FASTA)	NCBI Sequence Viewer
	EAW63163	(Get FASTA)	NCBI Sequence Viewer
	EAW63164	(Get FASTA)	NCBI Sequence Viewer
	EAW63165	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000295211.5
	ENSP00000331368
	ENSP00000331368.3
	ENSP00000381072
	ENSP00000381072.2
	ENSP00000381075
	ENSP00000381075.3
	ENSP00000393456.1
	ENSP00000414580.1
	ENSP00000438328
	ENSP00000438328.1
	ENSP00000478199.1
	ENSP00000489949
	ENSP00000489949.1
GenBank Protein	P50452	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_942130 ⟸ NM_198833
- Peptide Label:	isoform a
- UniProtKB:	Q7Z2V6 (UniProtKB/Swiss-Prot), B4DTW2 (UniProtKB/Swiss-Prot), Q8N178 (UniProtKB/Swiss-Prot), P50452 (UniProtKB/Swiss-Prot), B2R9H3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDDLCEANGTFAISLFKILGEEDNSRNVFFSPMSISSALAMVFMGAKGSTAAQMSQALCLYKDG DIHRGFQSLLSEVNRTGTQYLLRTANRLFGEKTCDFLPDFKEYCQKFYQAELEELSFAEDTEEC RKHINDWVAEKTEGKISEVLDAGTVDPLTKLVLVNAIYFKGKWNEQFDRKYTRGMLFKTNEEKK TVQMMFKEAKFKMGYADEVHTQVLELPYVEEELSMVILLPDDNTDLAVVEKALTYEKFKAWTNS EKLTKSKVQVFLPRLKLEESYDLEPFLRRLGMIDAFDEAKADFSGMSTEKNVPLSKVAHKCFVE VNEEGTEAAAATAVVRNSRCSRMEPRFCADHPFLFFIRHHKTNCILFCGRFSSP hide sequence

RefSeq Acc Id:	NP_002631 ⟸ NM_002640
- Peptide Label:	isoform a
- UniProtKB:	Q7Z2V6 (UniProtKB/Swiss-Prot), B4DTW2 (UniProtKB/Swiss-Prot), Q8N178 (UniProtKB/Swiss-Prot), P50452 (UniProtKB/Swiss-Prot), B2R9H3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDDLCEANGTFAISLFKILGEEDNSRNVFFSPMSISSALAMVFMGAKGSTAAQMSQALCLYKDG DIHRGFQSLLSEVNRTGTQYLLRTANRLFGEKTCDFLPDFKEYCQKFYQAELEELSFAEDTEEC RKHINDWVAEKTEGKISEVLDAGTVDPLTKLVLVNAIYFKGKWNEQFDRKYTRGMLFKTNEEKK TVQMMFKEAKFKMGYADEVHTQVLELPYVEEELSMVILLPDDNTDLAVVEKALTYEKFKAWTNS EKLTKSKVQVFLPRLKLEESYDLEPFLRRLGMIDAFDEAKADFSGMSTEKNVPLSKVAHKCFVE VNEEGTEAAAATAVVRNSRCSRMEPRFCADHPFLFFIRHHKTNCILFCGRFSSP hide sequence

RefSeq Acc Id:	NP_001027018 ⟸ NM_001031848
- Peptide Label:	isoform b
- UniProtKB:	P50452 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDDLCEANGTFAISLFKILGEEDNSRNVFFSPMSISSALAMVFMGAKGSTAAQMSQALCLYKDG DIHRGFQSLLSEVNRTGTQYLLRTANRLFGEKTCDFLPDFKEYCQKFYQAELEELSFAEDTEEC RKHINDWVAEKTEGKISEVLDAGTVDPLTKLVLVNAIYFKGKWNEQFDRKYTRGMLFKTNEEKK TVQMMFKEAKFKMGYADEVHTQVLELPYVEEELSMVILLPDDNTDLAVKE hide sequence

RefSeq Acc Id:	NP_001263419 ⟸ NM_001276490
- Peptide Label:	isoform c
- UniProtKB:	P50452 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLFKTNEEKKTVQMMFKEAKFKMGYADEVHTQVLELPYVEEELSMVILLPDDNTDLAVVEKALT YEKFKAWTNSEKLTKSKVQVFLPRLKLEESYDLEPFLRRLGMIDAFDEAKADFSGMSTEKNVPL SKVAHKCFVEVNEEGTEAAAATAVVRNSRCSRMEPRFCADHPFLFFIRHHKTNCILFCGRFSSP hide sequence

RefSeq Acc Id:	NP_001335296 ⟸ NM_001348367
- Peptide Label:	isoform d
- UniProtKB:	A0A1B0GU38 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDDLCEANGTFAISLFKILGEEDNSRNVFFSPMSISSALAMVFMGAKGSTAAQMSQALCLYKDG DIHRGFQSLLSEVNRTGTQYLLRTANRLFGEKTCDFLPDFKEYCQKFYQAELEELSFAEDTEEC RKHINDWVAEKTEGKISEVLDAGTVDPLTKLVLVNAIYFKGKWNEQFDRKYTRGMLFKTNEEKK TVQMMFKEAKFKMGYADEVHTQVLELPYVEEELSMVILLPDDNTDLAVDTLRSTSFFCDILANI IST hide sequence

RefSeq Acc Id:

NP_001335298 ⟸ NM_001348369

- Peptide Label:

isoform e

- Sequence:

show sequence

MDDLCEANGTFAISLFKILGEEDNSRNVFFSPMSISSALAMVFMGAKGSTAAQMSQALCLYKDG
DIHRGFQSLLSEVNRTGTQYLLRTANRLFGEKTCDFLPDFKEYCQKFYQAELEELSFAEDTEEC
RKHINDWVAEKTEGKISEVLDAGTVDPLTKLVLVNAIYFKGKWNEQFDRKYTRGMLFKTNEEKK
TVQMMFKEAKFKMGYADEVHTQVLELPYVEEELSMVILLPDDNTDLAVIKAGGEL

hide sequence

RefSeq Acc Id:

NP_001335297 ⟸ NM_001348368

- Peptide Label:

isoform e

- Sequence:

show sequence

MDDLCEANGTFAISLFKILGEEDNSRNVFFSPMSISSALAMVFMGAKGSTAAQMSQALCLYKDG
DIHRGFQSLLSEVNRTGTQYLLRTANRLFGEKTCDFLPDFKEYCQKFYQAELEELSFAEDTEEC
RKHINDWVAEKTEGKISEVLDAGTVDPLTKLVLVNAIYFKGKWNEQFDRKYTRGMLFKTNEEKK
TVQMMFKEAKFKMGYADEVHTQVLELPYVEEELSMVILLPDDNTDLAVIKAGGEL

hide sequence

RefSeq Acc Id:	NP_001335299 ⟸ NM_001348370
- Peptide Label:	isoform f
- Sequence:	show sequence MTGWQRRLKEKKTVQMMFKEAKFKMGYADEVHTQVLELPYVEEELSMVILLPDDNTDLAVVEKA LTYEKFKAWTNSEKLTKSKVQVFLPRLKLEESYDLEPFLRRLGMIDAFDEAKADFSGMSTEKNV PLSKVAHKCFVEVNEEGTEAAAATAVVRNSRCSRMEPRFCADHPFLFFIRHHKTNCILFCGRFS SP hide sequence

RefSeq Acc Id:	NP_001353127 ⟸ NM_001366198
- Peptide Label:	isoform a
- UniProtKB:	Q7Z2V6 (UniProtKB/Swiss-Prot), P50452 (UniProtKB/Swiss-Prot), B4DTW2 (UniProtKB/Swiss-Prot), Q8N178 (UniProtKB/Swiss-Prot), B2R9H3 (UniProtKB/TrEMBL)

RefSeq Acc Id:

ENSP00000438328 ⟸ ENST00000542677

RefSeq Acc Id:

ENSP00000489949 ⟸ ENST00000636430

RefSeq Acc Id:

ENSP00000295211 ⟸ ENST00000295211

RefSeq Acc Id:

ENSP00000478199 ⟸ ENST00000493661

RefSeq Acc Id:

ENSP00000393456 ⟸ ENST00000441827

RefSeq Acc Id:

ENSP00000331368 ⟸ ENST00000353706

RefSeq Acc Id:

ENSP00000414580 ⟸ ENST00000448851

RefSeq Acc Id:

ENSP00000381075 ⟸ ENST00000397988

RefSeq Acc Id:

ENSP00000381072 ⟸ ENST00000397985

Protein Domains

SERPIN

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P50452-F1-model_v2	AlphaFold	P50452	1-374	view protein structure

Promoters

RGD ID:

6794995

Promoter ID:

HG_KWN:28177

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000397988, NM_198833, OTTHUMT00000134014, OTTHUMT00000280627, OTTHUMT00000280628

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	18	59,787,381 - 59,788,777 (+)	MPROMDB

RGD ID:

6794996

Promoter ID:

HG_KWN:28178

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

OTTHUMT00000134016

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	18	59,797,566 - 59,798,066 (+)	MPROMDB

RGD ID:

7237533

Promoter ID:

EPDNEW_H24512

Type:

initiation region

Name:

SERPINB8_4

Description:

serpin family B member 8

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H24511 EPDNEW_H24513 EPDNEW_H24514

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	63,969,977 - 63,970,037	EPDNEW

RGD ID:

7237535

Promoter ID:

EPDNEW_H24513

Type:

initiation region

Name:

SERPINB8_1

Description:

serpin family B member 8

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H24511 EPDNEW_H24512 EPDNEW_H24514

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	63,970,122 - 63,970,182	EPDNEW

RGD ID:

7237537

Promoter ID:

EPDNEW_H24514

Type:

initiation region

Name:

SERPINB8_3

Description:

serpin family B member 8

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H24511 EPDNEW_H24512 EPDNEW_H24513

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	63,978,445 - 63,978,505	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:8952	AgrOrtholog
COSMIC	SERPINB8	COSMIC
Ensembl Genes	ENSG00000166401	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000295211.5	UniProtKB/TrEMBL
	ENST00000353706	ENTREZGENE
	ENST00000353706.6	UniProtKB/Swiss-Prot
	ENST00000397985	ENTREZGENE
	ENST00000397985.7	UniProtKB/Swiss-Prot
	ENST00000397988	ENTREZGENE
	ENST00000397988.7	UniProtKB/Swiss-Prot
	ENST00000441827.5	UniProtKB/TrEMBL
	ENST00000448851.5	UniProtKB/TrEMBL
	ENST00000493661.2	UniProtKB/TrEMBL
	ENST00000542677	ENTREZGENE
	ENST00000542677.5	UniProtKB/Swiss-Prot
	ENST00000636430	ENTREZGENE
	ENST00000636430.1	UniProtKB/TrEMBL
Gene3D-CATH	2.30.39.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	3.30.497.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000166401	GTEx
HGNC ID	HGNC:8952	ENTREZGENE
Human Proteome Map	SERPINB8	Human Proteome Map
InterPro	Serpin_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Serpin_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Serpin_fam	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Serpin_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Serpin_sf_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Serpin_sf_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:5271	UniProtKB/Swiss-Prot
NCBI Gene	5271	ENTREZGENE
OMIM	601697	OMIM
PANTHER	PTHR11461	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SERPIN B8	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Serpin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA35517	PharmGKB
PROSITE	SERPIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	SERPIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF56574	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A087WTX6_HUMAN	UniProtKB/TrEMBL
	A0A1B0GU38	ENTREZGENE, UniProtKB/TrEMBL
	B2R9H3	ENTREZGENE, UniProtKB/TrEMBL
	B4DTW2	ENTREZGENE
	C9JTJ8_HUMAN	UniProtKB/TrEMBL
	C9JVA8_HUMAN	UniProtKB/TrEMBL
	H7BXK7_HUMAN	UniProtKB/TrEMBL
	P50452	ENTREZGENE
	Q7Z2V6	ENTREZGENE
	Q8N178	ENTREZGENE
	SPB8_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	B4DTW2	UniProtKB/Swiss-Prot
	Q7Z2V6	UniProtKB/Swiss-Prot
	Q8N178	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-04-12	SERPINB8	serpin family B member 8		serpin peptidase inhibitor, clade B (ovalbumin), member 8	Symbol and/or name change	5135510	APPROVED

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)

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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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