SLC39A8 (solute carrier family 39 member 8)

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Gene: SLC39A8 (solute carrier family 39 member 8) Homo sapiens

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Symbol:

SLC39A8

Name:

solute carrier family 39 member 8

RGD ID:

1317894

HGNC Page

HGNC:20862

Description:

Enables monoatomic cation:bicarbonate symporter activity. Involved in several processes, including cellular detoxification of cadmium ion; monoatomic cation transmembrane transport; and plasma membrane selenite transport. Acts upstream of with a negative effect on negative regulation of canonical NF-kappaB signal transduction and negative regulation of inflammatory response. Located in apical plasma membrane; basolateral plasma membrane; and lysosomal membrane. Implicated in congenital disorder of glycosylation type IIn.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

BCG induced integral membrane protein BIGM103; BCG-induced integral membrane protein in monocyte clone 103 protein; BIGM103; CDG2N; LIV-1 subfamily of ZIP zinc transporter 6; LZT-Hs6; metal cation symporter ZIP8; PP3105; solute carrier family 39 (metal ion transporter), member 8; solute carrier family 39 (zinc transporter), member 8; Zinc transporter 8; zinc transporter ZIP8; ZIP-8; ZIP8; Zrt- and Irt-like protein 8; ZRT/IRT-like protein 8

RGD Orthologs

Alliance Orthologs

More Info

more info ...

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	4	102,251,041 - 102,345,482 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	102,251,080 - 102,431,258 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	103,172,198 - 103,266,639 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	103,401,844 - 103,485,371 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	4	103,539,998 - 103,623,526	NCBI
Celera	4	100,470,678 - 100,565,146 (-)	NCBI		Celera
Cytogenetic Map	4	q24	NCBI
HuRef	4	98,909,550 - 99,003,934 (-)	NCBI		HuRef
CHM1_1	4	103,148,714 - 103,243,025 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	4	105,565,252 - 105,659,701 (-)	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

beta-mannosidosis (IAGP)

congenital disorder of glycosylation type IIn (IAGP)

Crohn's disease (IAGP)

Experimental Liver Cirrhosis (EXP)

genetic disease (IAGP)

inflammatory bowel disease 1 (IAGP)

left ventricular noncompaction (ISS)

Manganese Poisoning (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

(1->4)-beta-D-glucan (ISO)

1,1-dichloroethene (ISO)

1,2-dimethylhydrazine (ISO)

1-naphthyl isothiocyanate (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP,ISO)

17beta-estradiol 3-benzoate (ISO)

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

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

2-butoxyethanol (ISO)

3,3',4,4',5-pentachlorobiphenyl (EXP)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-diaminodiphenylmethane (ISO)

5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole (ISO)

6-propyl-2-thiouracil (ISO)

8-Br-cAMP (EXP)

acetamide (ISO)

aflatoxin B1 (EXP,ISO)

all-trans-retinoic acid (EXP)

amiodarone (ISO)

amitrole (ISO)

amphetamine (ISO)

antirheumatic drug (EXP)

arsane (ISO)

arsenic atom (ISO)

benzbromarone (ISO)

benzo[a]pyrene (EXP,ISO)

benzoates (EXP)

beta-naphthoflavone (EXP)

bisphenol A (EXP,ISO)

Bisphenol B (EXP)

bisphenol F (ISO)

C60 fullerene (ISO)

cadmium atom (EXP,ISO)

cadmium dichloride (EXP,ISO)

cadmium sulfate (EXP)

calcitriol (EXP)

carbon nanotube (EXP,ISO)

chloroprene (ISO)

chlorpyrifos (ISO)

cisplatin (EXP,ISO)

clofibrate (ISO)

cobalt atom (ISO)

copper atom (ISO)

copper(0) (ISO)

copper(II) sulfate (EXP)

coumestrol (EXP)

cyclosporin A (EXP)

dexamethasone (EXP)

dextran sulfate (ISO)

diethylstilbestrol (ISO)

diquat (ISO)

diuron (ISO)

dorsomorphin (EXP)

doxorubicin (EXP)

endosulfan (ISO)

Enterolactone (EXP)

flutamide (ISO)

genistein (EXP,ISO)

gentamycin (ISO)

glafenine (ISO)

hydrogencarbonate (ISO)

indometacin (ISO)

iron atom (EXP,ISO)

iron(0) (EXP,ISO)

isotretinoin (EXP)

L-ethionine (ISO)

lead diacetate (EXP,ISO)

manganese atom (EXP,ISO)

manganese(0) (EXP,ISO)

manganese(II) chloride (ISO)

mercury atom (ISO)

mercury dibromide (EXP)

mercury(0) (ISO)

methapyrilene (ISO)

methotrexate (ISO)

methylmercury chloride (EXP)

N-methylformamide (ISO)

N-nitrosodimethylamine (ISO)

nefazodone (ISO)

nickel atom (EXP,ISO)

nimesulide (ISO)

nitrofen (ISO)

omeprazole (ISO)

panobinostat (EXP)

paracetamol (ISO)

perfluorooctane-1-sulfonic acid (EXP,ISO)

phenobarbital (EXP,ISO)

phenylmercury acetate (EXP)

pirinixic acid (ISO)

potassium cyanide (ISO)

progesterone (EXP)

propanal (EXP)

quercitrin (EXP)

resveratrol (EXP)

rimonabant (ISO)

SB 431542 (EXP)

sodium arsenite (EXP,ISO)

sodium hydrogencarbonate (ISO)

Soman (ISO)

sunitinib (EXP)

testosterone (ISO)

tetrachloromethane (ISO)

thioacetamide (ISO)

thiram (EXP)

titanium dioxide (ISO)

toluene (ISO)

topotecan (EXP)

trichloroethene (ISO)

trichostatin A (EXP)

triclosan (EXP)

triphenyl phosphate (EXP)

triptonide (ISO)

valproic acid (EXP)

vancomycin (ISO)

vorinostat (EXP)

zinc atom (EXP,ISO)

zinc dichloride (ISO)

zinc(0) (EXP,ISO)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

arginine metabolic process (IEA,ISS)

bicarbonate transport (IEA,ISS)

cadmium ion transmembrane transport (IDA,IEA,ISO)

cartilage homeostasis (IEA,ISS)

cellular detoxification of cadmium ion (IMP)

cobalt ion transport (IEA,ISS)

DNA-templated transcription (IEA,ISO)

extracellular matrix organization (IEA,IMP)

intracellular manganese ion homeostasis (IEA,ISS)

intracellular monoatomic cation homeostasis (IBA)

intracellular zinc ion homeostasis (IDA,IEA)

iron ion import across plasma membrane (IDA,IEA)

leukocyte adhesion to arterial endothelial cell (IEA,ISS)

manganese ion transmembrane transport (IEA,IMP)

mercury ion transport (IEA)

metal ion transport (IEA)

mitochondrial manganese ion transmembrane transport (IMP)

negative regulation of canonical NF-kappaB signal transduction (IMP)

negative regulation of inflammatory response (IMP)

plasma membrane selenite transport (IDA,IEA)

protein N-linked glycosylation (IEA,ISS)

regulation of DNA-templated transcription (IEA,IMP)

regulation of membrane potential (IMP)

transmembrane transport (IEA)

zinc ion import across plasma membrane (IBA,IEA,IMP)

zinc ion transmembrane transport (IDA,IEA,IMP,TAS)

zinc ion transport (IEA,IMP)

Cellular Component

apical plasma membrane (IDA,IEA)

basolateral plasma membrane (IDA,IEA)

lysosomal membrane (IDA,IEA)

lysosome (IEA)

membrane (IEA)

organelle membrane (IDA)

plasma membrane (IBA,IDA,IEA,TAS)

Molecular Function

metal ion transmembrane transporter activity (IEA)

monoatomic cation:bicarbonate symporter activity (IBA,IDA,IEA)

symporter activity (IEA)

zinc ion transmembrane transporter activity (IBA,TAS)

zinc:bicarbonate symporter activity (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

iron uptake pathway (TAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal blood zinc concentration (IAGP)

Abnormality of the liver (IAGP)

Astigmatism (IAGP)

Autosomal recessive inheritance (IAGP)

Cerebellar atrophy (IAGP)

Cerebellar vermis atrophy (IAGP)

Cerebral atrophy (IAGP)

Cerebral cortical atrophy (IAGP)

Congenital onset (IAGP)

Craniosynostosis (IAGP)

Cutaneous syndactyly of toes (IAGP)

Decreased activity of mitochondrial complex II (IAGP)

Decreased activity of mitochondrial complex IV (IAGP)

Decreased activity of the pyruvate dehydrogenase complex (IAGP)

Decreased mitochondrial complex III activity in liver tissue (IAGP)

Delayed ability to sit (IAGP)

Disproportionate short-limb short stature (IAGP)

Dystonia (IAGP)

Elbow flexion contracture (IAGP)

Elevated brain lactate level by MRS (IAGP)

Failure to thrive in infancy (IAGP)

Flat face (IAGP)

Global developmental delay (IAGP)

Hearing impairment (IAGP)

Hypermetropia (IAGP)

Hyperreflexia (IAGP)

Hypomanganesemia (IAGP)

Hypotonia (IAGP)

Hypsarrhythmia (IAGP)

Inability to walk (IAGP)

Increased CSF lactate (IAGP)

Intellectual disability (IAGP)

Intellectual disability, profound (IAGP)

Joint hypermobility (IAGP)

Knee flexion contracture (IAGP)

Limb undergrowth (IAGP)

Low-set ears (IAGP)

Nystagmus (IAGP)

Osteopenia (IAGP)

Poor head control (IAGP)

Poor speech (IAGP)

Profound global developmental delay (IAGP)

Recurrent infections (IAGP)

Seizure (IAGP)

Severe muscular hypotonia (IAGP)

Short stature (IAGP)

Strabismus (IAGP)

Sudden episodic apnea (IAGP)

Type II transferrin isoform profile (IAGP)

Ventriculomegaly (IAGP)

Visual fixation instability (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Regulators of Iron Homeostasis: New Players in Metabolism, Cell Death, and Disease.	Bogdan AR, etal., Trends Biochem Sci. 2016 Mar;41(3):274-86. doi: 10.1016/j.tibs.2015.11.012. Epub 2015 Dec 23.
2.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
3.	Cellular iron uptake, trafficking and metabolism: Key molecules and mechanisms and their roles in disease.	Lane DJ, etal., Biochim Biophys Acta. 2015 May;1853(5):1130-44. doi: 10.1016/j.bbamcr.2015.01.021. Epub 2015 Feb 4.
4.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
5.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12477932	PMID:12504855	PMID:12659941	PMID:12839489	PMID:14702039	PMID:16083285	PMID:18270315	PMID:18390834	PMID:18556457	PMID:19064571	PMID:19401385	PMID:20686565
PMID:20864672	PMID:20935630	PMID:21873635	PMID:21909110	PMID:21909115	PMID:22078303	PMID:22898811	PMID:23403290	PMID:23688035	PMID:23921484	PMID:24097068	PMID:24514587
PMID:25056061	PMID:26006263	PMID:26025379	PMID:26637978	PMID:26908625	PMID:27166256	PMID:27466201	PMID:27492617	PMID:27995398	PMID:28298427	PMID:28481222	PMID:28514442
PMID:28917719	PMID:29117863	PMID:29120360	PMID:29333637	PMID:29337306	PMID:29453449	PMID:29749445	PMID:30301978	PMID:30649180	PMID:30703110	PMID:31151823	PMID:31261654
PMID:31513097	PMID:31521203	PMID:31533672	PMID:31699897	PMID:32247823	PMID:32392784	PMID:32694731	PMID:32753748	PMID:32788640	PMID:32852845	PMID:32897876	PMID:33139556
PMID:33608496	PMID:33795795	PMID:33961781	PMID:34198528	PMID:34672770	PMID:34768831	PMID:34924116	PMID:35271311	PMID:35636252	PMID:35642632	PMID:35787370	PMID:37023243
PMID:37616343	PMID:38103342	PMID:38309537	PMID:38687342

Genomics

Comparative Map Data

SLC39A8
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	4	102,251,041 - 102,345,482 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	102,251,080 - 102,431,258 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	103,172,198 - 103,266,639 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	103,401,844 - 103,485,371 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	4	103,539,998 - 103,623,526	NCBI
Celera	4	100,470,678 - 100,565,146 (-)	NCBI		Celera
Cytogenetic Map	4	q24	NCBI
HuRef	4	98,909,550 - 99,003,934 (-)	NCBI		HuRef
CHM1_1	4	103,148,714 - 103,243,025 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	4	105,565,252 - 105,659,701 (-)	NCBI		T2T-CHM13v2.0

Slc39a8
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	3	135,522,644 - 135,594,333 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	3	135,531,040 - 135,594,333 (+)	Ensembl		GRCm39 Ensembl
GRCm38	3	135,816,882 - 135,888,572 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	3	135,825,279 - 135,888,572 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	3	135,488,455 - 135,551,536 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	3	135,763,475 - 135,825,778 (+)	NCBI		MGSCv36	mm8
Celera	3	142,245,991 - 142,312,950 (+)	NCBI		Celera
Cytogenetic Map	3	G3	NCBI
cM Map	3	63.04	NCBI

Slc39a8
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	2	226,845,686 - 226,992,668 (+)	NCBI		GRCr8
mRatBN7.2	2	224,171,787 - 224,319,326 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	2	224,256,654 - 224,319,129 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	2	231,982,580 - 232,044,754 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	2	229,882,319 - 229,944,486 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	2	224,746,913 - 224,809,087 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	2	241,028,851 - 241,092,584 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	2	241,029,693 - 241,092,582 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	2	259,584,747 - 259,648,098 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	2	233,340,397 - 233,403,461 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	2	233,327,136 - 233,390,197 (+)	NCBI
Celera	2	216,458,405 - 216,522,357 (+)	NCBI		Celera
Cytogenetic Map	2	q43	NCBI

Slc39a8
(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_004955496	6,040,029 - 6,109,907 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955496	6,016,727 - 6,106,965 (+)	NCBI	ChiLan1.0	ChiLan1.0

SLC39A8
(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	3	100,339,570 - 100,430,481 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	4	100,626,388 - 100,716,146 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	4	94,675,458 - 94,770,380 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	4	105,339,488 - 105,433,813 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	4	105,339,488 - 105,433,568 (-)	Ensembl	panpan1.1		panPan2

SLC39A8
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	32	23,727,920 - 23,801,459 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	32	23,729,476 - 23,800,941 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	32	18,223,143 - 18,296,028 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	32	23,949,019 - 24,021,586 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	32	23,949,029 - 24,022,702 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	32	23,928,002 - 24,000,562 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	32	23,708,061 - 23,781,012 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	32	16,083,043 - 16,156,566 (+)	NCBI		UU_Cfam_GSD_1.0

Slc39a8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405301	17,620,065 - 17,693,363 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936520	962,756 - 1,037,274 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936520	961,376 - 1,036,801 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SLC39A8
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	8	118,605,402 - 118,678,107 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	8	118,604,852 - 118,678,115 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	8	127,753,647 - 127,825,292 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SLC39A8
(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	7	50,355,756 - 50,451,253 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	7	50,367,436 - 50,451,510 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666037	28,867,139 - 28,956,324 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Slc39a8
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624830	5,514,780 - 5,574,894 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624830	5,514,595 - 5,573,250 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in SLC39A8
173 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]\|See cases [RCV000051775]	Chr4:92913386..165299707 [GRCh38] Chr4:93834537..166220859 [GRCh37] Chr4:94053560..166440309 [NCBI36] Chr4:4q22.2-32.3	pathogenic
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	copy number gain	See cases [RCV000051776]	Chr4:96092893..136410207 [GRCh38] Chr4:97014044..137331362 [GRCh37] Chr4:97233067..137550812 [NCBI36] Chr4:4q22.3-28.3	pathogenic
NM_001135146.2(SLC39A8):c.1026T>A (p.Cys342Ter)	single nucleotide variant	SLC39A8-CDG [RCV001332454]	Chr4:102267894 [GRCh38] Chr4:103189051 [GRCh37] Chr4:4q24	likely pathogenic
NM_001135146.2(SLC39A8):c.923C>T (p.Thr308Met)	single nucleotide variant	SLC39A8-CDG [RCV001332456]	Chr4:102267997 [GRCh38] Chr4:103189154 [GRCh37] Chr4:4q24	uncertain significance
GRCh38/hg38 4q24(chr4:101562032-102292685)x3	copy number gain	See cases [RCV000137976]	Chr4:101562032..102292685 [GRCh38] Chr4:102483189..103213842 [GRCh37] Chr4:102702212..103432865 [NCBI36] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.112G>C (p.Gly38Arg)	single nucleotide variant	SLC39A8-CDG [RCV000203234]\|not provided [RCV001386978]	Chr4:102344551 [GRCh38] Chr4:103265708 [GRCh37] Chr4:4q24	pathogenic\|likely pathogenic
NM_001135146.2(SLC39A8):c.1019T>A (p.Ile340Asn)	single nucleotide variant	SLC39A8-CDG [RCV000203240]\|not provided [RCV000492852]	Chr4:102267901 [GRCh38] Chr4:103189058 [GRCh37] Chr4:4q24	pathogenic\|likely pathogenic\|uncertain significance
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys)	single nucleotide variant	SLC39A8-CDG [RCV000203248]\|not provided [RCV000733882]\|not specified [RCV003226248]	Chr4:102305054 [GRCh38] Chr4:103226211 [GRCh37] Chr4:4q24	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001135146.2(SLC39A8):c.611G>T (p.Gly204Val)	single nucleotide variant	not provided [RCV001765025]	Chr4:102305053 [GRCh38] Chr4:103226210 [GRCh37] Chr4:4q24	likely pathogenic\|uncertain significance
NM_001135146.2(SLC39A8):c.357del (p.His119fs)	deletion	not provided [RCV000489149]	Chr4:102315693 [GRCh38] Chr4:103236850 [GRCh37] Chr4:4q24	uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	copy number gain	See cases [RCV000446653]	Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4q21.23-24(chr4:85805268-103678797)x1	copy number loss	See cases [RCV000445741]	Chr4:85805268..103678797 [GRCh37] Chr4:4q21.23-24	pathogenic
NM_001135146.2(SLC39A8):c.978C>A (p.Cys326Ter)	single nucleotide variant	not provided [RCV000439449]	Chr4:102267942 [GRCh38] Chr4:103189099 [GRCh37] Chr4:4q24	likely pathogenic
NM_001135146.2(SLC39A8):c.523dup (p.Ser175fs)	duplication	not provided [RCV000478582]	Chr4:102307464..102307465 [GRCh38] Chr4:103228621..103228622 [GRCh37] Chr4:4q24	likely pathogenic\|uncertain significance
NM_001135146.2(SLC39A8):c.1166A>G (p.Asn389Ser)	single nucleotide variant	Inborn genetic diseases [RCV002526991]\|SLC39A8-CDG [RCV002226711]\|SLC39A8-related disorder [RCV004730954]\|not provided [RCV000487100]	Chr4:102267557 [GRCh38] Chr4:103188714 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.1097dup (p.Leu366fs)	duplication	SLC39A8-CDG [RCV003139700]\|not provided [RCV000497410]	Chr4:102267625..102267626 [GRCh38] Chr4:103188782..103188783 [GRCh37] Chr4:4q24	uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	copy number gain	See cases [RCV000510453]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
NM_001135146.2(SLC39A8):c.1091A>G (p.Gln364Arg)	single nucleotide variant	not provided [RCV000493164]	Chr4:102267632 [GRCh38] Chr4:103188789 [GRCh37] Chr4:4q24	uncertain significance
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	copy number gain	See cases [RCV000510970]	Chr4:93071152..190957473 [GRCh37] Chr4:4q22.1-35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	copy number gain	See cases [RCV000512241]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
NM_001135146.2(SLC39A8):c.310_320del (p.Val104fs)	deletion	not provided [RCV000658184]	Chr4:102315730..102315740 [GRCh38] Chr4:103236887..103236897 [GRCh37] Chr4:4q24	uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3	copy number gain	not provided [RCV000743155]	Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3	copy number gain	not provided [RCV000743156]	Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3	copy number gain	not provided [RCV000743147]	Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
NM_001135147.1(SLC39A8):c.1267-204G>A	single nucleotide variant	not provided [RCV001535075]	Chr4:102259718 [GRCh38] Chr4:103180875 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr)	single nucleotide variant	Inflammatory bowel disease 1 [RCV003227984]\|not provided [RCV001680696]	Chr4:102267552 [GRCh38] Chr4:103188709 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.1041C>T (p.His347=)	single nucleotide variant	not provided [RCV001641281]	Chr4:102267879 [GRCh38] Chr4:103189036 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.228T>C (p.Thr76=)	single nucleotide variant	not provided [RCV000982430]	Chr4:102315822 [GRCh38] Chr4:103236979 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.1170C>T (p.Phe390=)	single nucleotide variant	not provided [RCV000899665]	Chr4:102267553 [GRCh38] Chr4:103188710 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.477A>G (p.Pro159=)	single nucleotide variant	SLC39A8-related disorder [RCV003942832]\|not provided [RCV000919906]	Chr4:102307511 [GRCh38] Chr4:103228668 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.81A>C (p.Leu27=)	single nucleotide variant	SLC39A8-related disorder [RCV003920789]\|not provided [RCV000892859]	Chr4:102344582 [GRCh38] Chr4:103265739 [GRCh37] Chr4:4q24	benign\|likely benign
NM_001135146.2(SLC39A8):c.1049-17TCT[4]	microsatellite	not provided [RCV000831389]	Chr4:102267677..102267679 [GRCh38] Chr4:103188834..103188836 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.915G>C (p.Trp305Cys)	single nucleotide variant	SLC39A8-CDG [RCV000984964]	Chr4:102268005 [GRCh38] Chr4:103189162 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.337T>C (p.Cys113Arg)	single nucleotide variant	SLC39A8-CDG [RCV000785949]	Chr4:102315713 [GRCh38] Chr4:103236870 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.608T>C (p.Phe203Ser)	single nucleotide variant	not provided [RCV001090879]	Chr4:102305056 [GRCh38] Chr4:103226213 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.1049-6T>C	single nucleotide variant	not provided [RCV000918369]	Chr4:102267680 [GRCh38] Chr4:103188837 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.1371C>T (p.Ile457=)	single nucleotide variant	not provided [RCV000915862]	Chr4:102263056 [GRCh38] Chr4:103184213 [GRCh37] Chr4:4q24	likely benign
GRCh37/hg19 4q24(chr4:102980012-103706640)x1	copy number loss	not provided [RCV000848913]	Chr4:102980012..103706640 [GRCh37] Chr4:4q24	pathogenic
NM_001135146.2(SLC39A8):c.463A>C (p.Lys155Gln)	single nucleotide variant	Inborn genetic diseases [RCV003247596]	Chr4:102307525 [GRCh38] Chr4:103228682 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.872G>C (p.Cys291Ser)	single nucleotide variant	Inborn genetic diseases [RCV003241169]	Chr4:102268048 [GRCh38] Chr4:103189205 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.19del (p.Val7fs)	deletion	not provided [RCV001577110]	Chr4:102344644 [GRCh38] Chr4:103265801 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.1233+153A>G	single nucleotide variant	not provided [RCV001551184]	Chr4:102267337 [GRCh38] Chr4:103188494 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.219+258T>G	single nucleotide variant	not provided [RCV001621219]	Chr4:102344186 [GRCh38] Chr4:103265343 [GRCh37] Chr4:4q24	benign
NM_001135147.1(SLC39A8):c.*88T>C	single nucleotide variant	not provided [RCV001647876]	Chr4:102253334 [GRCh38] Chr4:103174491 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.1049-44dup	duplication	not provided [RCV001560433]	Chr4:102267708..102267709 [GRCh38] Chr4:103188865..103188866 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.841-180C>T	single nucleotide variant	not provided [RCV001668073]	Chr4:102268259 [GRCh38] Chr4:103189416 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.220-206dup	duplication	not provided [RCV001713155]	Chr4:102316025..102316026 [GRCh38] Chr4:103237182..103237183 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.-7G>A	single nucleotide variant	not provided [RCV001598522]	Chr4:102344669 [GRCh38] Chr4:103265826 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.675+157T>C	single nucleotide variant	not provided [RCV001671361]	Chr4:102304832 [GRCh38] Chr4:103225989 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.*112T>C	single nucleotide variant	not provided [RCV001534459]	Chr4:102262932 [GRCh38] Chr4:103184089 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.552+236C>G	single nucleotide variant	not provided [RCV001638394]	Chr4:102307200 [GRCh38] Chr4:103228357 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.383-68G>A	single nucleotide variant	not provided [RCV001641098]	Chr4:102307673 [GRCh38] Chr4:103228830 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.1234-302C>G	single nucleotide variant	not provided [RCV001613612]	Chr4:102263495 [GRCh38] Chr4:103184652 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.841-201G>A	single nucleotide variant	not provided [RCV001592444]	Chr4:102268280 [GRCh38] Chr4:103189437 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.1049-44_1049-43dup	duplication	not provided [RCV001530876]	Chr4:102267708..102267709 [GRCh38] Chr4:103188865..103188866 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.841-109T>C	single nucleotide variant	not provided [RCV001694937]	Chr4:102268188 [GRCh38] Chr4:103189345 [GRCh37] Chr4:4q24	benign
NC_000004.11:g.(?_101947022)_(106061534_?)del	deletion	not provided [RCV003107794]	Chr4:101947022..106061534 [GRCh37] Chr4:4q24	pathogenic
NM_001135146.2(SLC39A8):c.745C>G (p.Pro249Ala)	single nucleotide variant	SLC39A8-related disorder [RCV003912963]\|not provided [RCV000907605]	Chr4:102304412 [GRCh38] Chr4:103225569 [GRCh37] Chr4:4q24	benign\|likely benign
NM_001135146.2(SLC39A8):c.627T>G (p.Leu209=)	single nucleotide variant	not provided [RCV000911750]	Chr4:102305037 [GRCh38] Chr4:103226194 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.801A>G (p.Gly267=)	single nucleotide variant	not provided [RCV001656657]	Chr4:102304356 [GRCh38] Chr4:103225513 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.219+70G>C	single nucleotide variant	not provided [RCV001677086]	Chr4:102344374 [GRCh38] Chr4:103265531 [GRCh37] Chr4:4q24	benign
NM_001135147.1(SLC39A8):c.1327-66A>C	single nucleotide variant	not provided [RCV001548367]	Chr4:102253496 [GRCh38] Chr4:103174653 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.1233+230del	deletion	not provided [RCV001644001]	Chr4:102267260 [GRCh38] Chr4:103188417 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.220-196del	deletion	not provided [RCV001555522]	Chr4:102316026 [GRCh38] Chr4:103237183 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.16_28del (p.Ala6fs)	deletion	SLC39A8-CDG [RCV002471570]	Chr4:102344635..102344647 [GRCh38] Chr4:103265792..103265804 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.220-26dup	duplication	not provided [RCV001595318]	Chr4:102315846..102315847 [GRCh38] Chr4:103237003..103237004 [GRCh37] Chr4:4q24	benign
NM_001135147.1(SLC39A8):c.*270G>A	single nucleotide variant	not provided [RCV001639594]	Chr4:102253152 [GRCh38] Chr4:103174309 [GRCh37] Chr4:4q24	benign
NM_001135147.1(SLC39A8):c.1327-141A>G	single nucleotide variant	not provided [RCV001689015]	Chr4:102253571 [GRCh38] Chr4:103174728 [GRCh37] Chr4:4q24	benign
NM_001135147.1(SLC39A8):c.*258G>A	single nucleotide variant	not provided [RCV001656468]	Chr4:102253164 [GRCh38] Chr4:103174321 [GRCh37] Chr4:4q24	benign
NM_001135147.1(SLC39A8):c.1327-232C>T	single nucleotide variant	not provided [RCV001638530]	Chr4:102253662 [GRCh38] Chr4:103174819 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.*137G>A	single nucleotide variant	not provided [RCV001680719]	Chr4:102262907 [GRCh38] Chr4:103184064 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.1234-240A>G	single nucleotide variant	not provided [RCV001693988]	Chr4:102263433 [GRCh38] Chr4:103184590 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.218dup (p.Cys74fs)	duplication	SLC39A8-CDG [RCV001580614]	Chr4:102344444..102344445 [GRCh38] Chr4:103265601..103265602 [GRCh37] Chr4:4q24	pathogenic
NM_001135146.2(SLC39A8):c.*266A>G	single nucleotide variant	not provided [RCV001679211]	Chr4:102262778 [GRCh38] Chr4:103183935 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.840+219T>G	single nucleotide variant	not provided [RCV001614657]	Chr4:102304098 [GRCh38] Chr4:103225255 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.-254+22C>T	single nucleotide variant	not provided [RCV001566280]	Chr4:102345323 [GRCh38] Chr4:103266480 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.552+48C>T	single nucleotide variant	SLC39A8-CDG [RCV001810228]\|not provided [RCV001683810]	Chr4:102307388 [GRCh38] Chr4:103228545 [GRCh37] Chr4:4q24	benign
NM_001135147.1(SLC39A8):c.*262dup	duplication	not provided [RCV001649521]	Chr4:102253159..102253160 [GRCh38] Chr4:103174316..103174317 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.-253-107T>G	single nucleotide variant	not provided [RCV001615756]	Chr4:102345022 [GRCh38] Chr4:103266179 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.338G>C (p.Cys113Ser)	single nucleotide variant	SLC39A8-CDG [RCV001089507]	Chr4:102315712 [GRCh38] Chr4:103236869 [GRCh37] Chr4:4q24	likely pathogenic
NM_001135146.2(SLC39A8):c.675+200dup	duplication	not provided [RCV001663305]	Chr4:102304784..102304785 [GRCh38] Chr4:103225941..103225942 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.966del (p.Ile322fs)	deletion	not provided [RCV001538788]	Chr4:102267954 [GRCh38] Chr4:103189111 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.1020C>G (p.Ile340Met)	single nucleotide variant	SLC39A8-CDG [RCV001332453]	Chr4:102267900 [GRCh38] Chr4:103189057 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.316C>T (p.Gln106Ter)	single nucleotide variant	SLC39A8-CDG [RCV001332455]	Chr4:102315734 [GRCh38] Chr4:103236891 [GRCh37] Chr4:4q24	likely pathogenic
NM_001135146.2(SLC39A8):c.965T>C (p.Ile322Thr)	single nucleotide variant	SLC39A8-CDG [RCV002246293]\|not provided [RCV001312045]	Chr4:102267955 [GRCh38] Chr4:103189112 [GRCh37] Chr4:4q24	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001135146.2(SLC39A8):c.841-186G>T	single nucleotide variant	not provided [RCV001670580]	Chr4:102268265 [GRCh38] Chr4:103189422 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.383-214C>T	single nucleotide variant	not provided [RCV001612731]	Chr4:102307819 [GRCh38] Chr4:103228976 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.411G>A (p.Thr137=)	single nucleotide variant	not provided [RCV001648711]	Chr4:102307577 [GRCh38] Chr4:103228734 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.676-66A>G	single nucleotide variant	not provided [RCV001670093]	Chr4:102304547 [GRCh38] Chr4:103225704 [GRCh37] Chr4:4q24	benign
NM_001135147.1(SLC39A8):c.*154A>G	single nucleotide variant	not provided [RCV001686809]	Chr4:102253268 [GRCh38] Chr4:103174425 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.675+199A>T	single nucleotide variant	not provided [RCV001665799]	Chr4:102304790 [GRCh38] Chr4:103225947 [GRCh37] Chr4:4q24	benign
NC_000004.11:g.(?_102001669)_(103806607_?)del	deletion	not provided [RCV003105379]	Chr4:102001669..103806607 [GRCh37] Chr4:4q24	pathogenic
NM_001135146.2(SLC39A8):c.1283C>T (p.Thr428Ile)	single nucleotide variant	SLC39A8-CDG [RCV002246724]	Chr4:102263144 [GRCh38] Chr4:103184301 [GRCh37] Chr4:4q24	pathogenic
GRCh37/hg19 4q24(chr4:102851823-104641864)	copy number loss	Immunodeficiency, common variable, 12 [RCV002280616]	Chr4:102851823..104641864 [GRCh37] Chr4:4q24	likely pathogenic
NM_001135146.2(SLC39A8):c.383-2A>G	single nucleotide variant	not provided [RCV001772426]	Chr4:102307607 [GRCh38] Chr4:103228764 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.1234-264G>A	single nucleotide variant	not provided [RCV001762871]	Chr4:102263457 [GRCh38] Chr4:103184614 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.157G>T (p.Glu53Ter)	single nucleotide variant	not provided [RCV001760542]	Chr4:102344506 [GRCh38] Chr4:103265663 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.446dup (p.Leu149fs)	duplication	not provided [RCV001756319]	Chr4:102307541..102307542 [GRCh38] Chr4:103228698..103228699 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.840+2T>C	single nucleotide variant	not provided [RCV001757010]	Chr4:102304315 [GRCh38] Chr4:103225472 [GRCh37] Chr4:4q24	uncertain significance
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	copy number gain	not provided [RCV001827738]	Chr4:52866944..143582507 [GRCh37] Chr4:4q12-31.21	pathogenic
NM_001135146.2(SLC39A8):c.841G>A (p.Asp281Asn)	single nucleotide variant	not provided [RCV002003464]	Chr4:102268079 [GRCh38] Chr4:103189236 [GRCh37] Chr4:4q24	uncertain significance
NC_000004.11:g.(?_101947022)_(104640832_?)del	deletion	Beta-D-mannosidosis [RCV001946800]\|not provided [RCV003107924]	Chr4:101947022..104640832 [GRCh37] Chr4:4q24	pathogenic\|no classifications from unflagged records
GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3	copy number gain	not provided [RCV001827745]	Chr4:95490755..109977216 [GRCh37] Chr4:4q22.3-25	likely pathogenic
NM_001135146.2(SLC39A8):c.131C>A (p.Ser44Ter)	single nucleotide variant	not provided [RCV002039709]	Chr4:102344532 [GRCh38] Chr4:103265689 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.552+7A>T	single nucleotide variant	not provided [RCV002039354]	Chr4:102307429 [GRCh38] Chr4:103228586 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.500G>C (p.Gly167Ala)	single nucleotide variant	SLC39A8-CDG [RCV002226857]	Chr4:102307488 [GRCh38] Chr4:103228645 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.931G>A (p.Asp311Asn)	single nucleotide variant	not provided [RCV002223727]	Chr4:102267989 [GRCh38] Chr4:103189146 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.1345C>T (p.Leu449Phe)	single nucleotide variant	not provided [RCV002176361]	Chr4:102263082 [GRCh38] Chr4:103184239 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.220-17del	deletion	not provided [RCV002118700]	Chr4:102315847 [GRCh38] Chr4:103237004 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.1234-11C>G	single nucleotide variant	not provided [RCV002154569]	Chr4:102263204 [GRCh38] Chr4:103184361 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.814G>C (p.Asp272His)	single nucleotide variant	Inborn genetic diseases [RCV004683747]	Chr4:102304343 [GRCh38] Chr4:103225500 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.410C>T (p.Thr137Met)	single nucleotide variant	See cases [RCV002252404]	Chr4:102307578 [GRCh38] Chr4:103228735 [GRCh37] Chr4:4q24	uncertain significance
A391T	variation	Inflammatory bowel disease 1 [RCV003152346]		benign
NM_001135146.2(SLC39A8):c.1233+169C>T	single nucleotide variant	not provided [RCV002285800]	Chr4:102267321 [GRCh38] Chr4:103188478 [GRCh37] Chr4:4q24	likely benign
GRCh37/hg19 4q24(chr4:102942671-103682051)x1	copy number loss	not provided [RCV002263369]	Chr4:102942671..103682051 [GRCh37] Chr4:4q24	pathogenic
NM_001135146.2(SLC39A8):c.274A>C (p.Ile92Leu)	single nucleotide variant	not provided [RCV002297753]	Chr4:102315776 [GRCh38] Chr4:103236933 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.382+1_382+12del	deletion	not provided [RCV002467090]	Chr4:102315656..102315667 [GRCh38] Chr4:103236813..103236824 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.97G>A (p.Val33Met)	single nucleotide variant	not provided [RCV002518400]	Chr4:102344566 [GRCh38] Chr4:103265723 [GRCh37] Chr4:4q24	benign\|conflicting interpretations of pathogenicity
NM_001135146.2(SLC39A8):c.758G>T (p.Gly253Val)	single nucleotide variant	Inborn genetic diseases [RCV002816833]	Chr4:102304399 [GRCh38] Chr4:103225556 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.841-9T>G	single nucleotide variant	not provided [RCV002614732]	Chr4:102268088 [GRCh38] Chr4:103189245 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.1048+3A>T	single nucleotide variant	not provided [RCV002727020]	Chr4:102267869 [GRCh38] Chr4:103189026 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.98_99del (p.Val33fs)	microsatellite	not provided [RCV002839388]	Chr4:102344564..102344565 [GRCh38] Chr4:103265721..103265722 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.59G>C (p.Gly20Ala)	single nucleotide variant	Inborn genetic diseases [RCV002979779]\|not provided [RCV002995520]	Chr4:102344604 [GRCh38] Chr4:103265761 [GRCh37] Chr4:4q24	likely benign\|uncertain significance
NM_001135146.2(SLC39A8):c.1131T>C (p.Tyr377=)	single nucleotide variant	not provided [RCV003015626]	Chr4:102267592 [GRCh38] Chr4:103188749 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.1259G>C (p.Arg420Thr)	single nucleotide variant	not provided [RCV002726890]	Chr4:102263168 [GRCh38] Chr4:103184325 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.7C>T (p.Pro3Ser)	single nucleotide variant	Inborn genetic diseases [RCV002682623]	Chr4:102344656 [GRCh38] Chr4:103265813 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.571A>G (p.Lys191Glu)	single nucleotide variant	Inborn genetic diseases [RCV002754306]	Chr4:102305093 [GRCh38] Chr4:103226250 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.552+1G>A	single nucleotide variant	not provided [RCV002994389]	Chr4:102307435 [GRCh38] Chr4:103228592 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.783T>A (p.Ala261=)	single nucleotide variant	not provided [RCV002750396]	Chr4:102304374 [GRCh38] Chr4:103225531 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.219+17C>T	single nucleotide variant	not provided [RCV003034070]	Chr4:102344427 [GRCh38] Chr4:103265584 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.77G>A (p.Gly26Glu)	single nucleotide variant	not provided [RCV002971436]	Chr4:102344586 [GRCh38] Chr4:103265743 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.1287T>C (p.Asp429=)	single nucleotide variant	not provided [RCV002843057]	Chr4:102263140 [GRCh38] Chr4:103184297 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.272A>T (p.Gln91Leu)	single nucleotide variant	Inborn genetic diseases [RCV003012939]	Chr4:102315778 [GRCh38] Chr4:103236935 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.1380G>A (p.Glu460=)	single nucleotide variant	not provided [RCV002842748]	Chr4:102263047 [GRCh38] Chr4:103184204 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.1337C>A (p.Ala446Asp)	single nucleotide variant	not provided [RCV002819009]	Chr4:102263090 [GRCh38] Chr4:103184247 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.137C>T (p.Ala46Val)	single nucleotide variant	Inborn genetic diseases [RCV002981217]	Chr4:102344526 [GRCh38] Chr4:103265683 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.842A>G (p.Asp281Gly)	single nucleotide variant	Inborn genetic diseases [RCV002981254]	Chr4:102268078 [GRCh38] Chr4:103189235 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.552+6G>T	single nucleotide variant	Inborn genetic diseases [RCV002738185]\|not provided [RCV003730277]	Chr4:102307430 [GRCh38] Chr4:103228587 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.1042G>A (p.Glu348Lys)	single nucleotide variant	not provided [RCV002736188]	Chr4:102267878 [GRCh38] Chr4:103189035 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.1075G>A (p.Gly359Arg)	single nucleotide variant	not provided [RCV002510205]	Chr4:102267648 [GRCh38] Chr4:103188805 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.940_948dup (p.Phe316_Ile317insHisAsnPhe)	duplication	not provided [RCV002510228]	Chr4:102267971..102267972 [GRCh38] Chr4:103189128..103189129 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.70G>T (p.Gly24Trp)	single nucleotide variant	Inborn genetic diseases [RCV002660395]	Chr4:102344593 [GRCh38] Chr4:103265750 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.78G>A (p.Gly26=)	single nucleotide variant	not provided [RCV002979791]	Chr4:102344585 [GRCh38] Chr4:103265742 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.930C>T (p.Cys310=)	single nucleotide variant	not provided [RCV002781187]	Chr4:102267990 [GRCh38] Chr4:103189147 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.219+18G>C	single nucleotide variant	not provided [RCV002760376]	Chr4:102344426 [GRCh38] Chr4:103265583 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.153G>C (p.Leu51Phe)	single nucleotide variant	Inborn genetic diseases [RCV002844237]	Chr4:102344510 [GRCh38] Chr4:103265667 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.1049-17TCT[7]	microsatellite	not provided [RCV002662377]	Chr4:102267676..102267677 [GRCh38] Chr4:103188833..103188834 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.69G>C (p.Glu23Asp)	single nucleotide variant	not provided [RCV003042447]	Chr4:102344594 [GRCh38] Chr4:103265751 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.751A>G (p.Ile251Val)	single nucleotide variant	not provided [RCV002700780]	Chr4:102304406 [GRCh38] Chr4:103225563 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.532A>C (p.Ile178Leu)	single nucleotide variant	not provided [RCV002958987]	Chr4:102307456 [GRCh38] Chr4:103228613 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.87C>T (p.Phe29=)	single nucleotide variant	not provided [RCV002666539]	Chr4:102344576 [GRCh38] Chr4:103265733 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.389G>T (p.Gly130Val)	single nucleotide variant	not provided [RCV003043504]	Chr4:102307599 [GRCh38] Chr4:103228756 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.10G>C (p.Gly4Arg)	single nucleotide variant	not provided [RCV002933384]	Chr4:102344653 [GRCh38] Chr4:103265810 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.1049-12T>A	single nucleotide variant	not provided [RCV002597333]	Chr4:102267686 [GRCh38] Chr4:103188843 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.676-9C>G	single nucleotide variant	not provided [RCV002643867]	Chr4:102304490 [GRCh38] Chr4:103225647 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.360A>C (p.Lys120Asn)	single nucleotide variant	not provided [RCV002666728]	Chr4:102315690 [GRCh38] Chr4:103236847 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.8C>T (p.Pro3Leu)	single nucleotide variant	not provided [RCV002919010]	Chr4:102344655 [GRCh38] Chr4:103265812 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.48C>T (p.Ala16=)	single nucleotide variant	not provided [RCV002576110]	Chr4:102344615 [GRCh38] Chr4:103265772 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.167del (p.Gly56fs)	deletion	not provided [RCV002958215]	Chr4:102344496 [GRCh38] Chr4:103265653 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.165G>T (p.Met55Ile)	single nucleotide variant	not provided [RCV002928978]	Chr4:102344498 [GRCh38] Chr4:103265655 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.219+17C>A	single nucleotide variant	not provided [RCV002800907]	Chr4:102344427 [GRCh38] Chr4:103265584 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.82G>A (p.Ala28Thr)	single nucleotide variant	not provided [RCV002851236]	Chr4:102344581 [GRCh38] Chr4:103265738 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.676-4A>G	single nucleotide variant	Inborn genetic diseases [RCV002673553]\|SLC39A8-related disorder [RCV003946356]\|not provided [RCV003730262]	Chr4:102304485 [GRCh38] Chr4:103225642 [GRCh37] Chr4:4q24	likely benign\|uncertain significance
NM_001135146.2(SLC39A8):c.521T>C (p.Phe174Ser)	single nucleotide variant	not provided [RCV002807119]	Chr4:102307467 [GRCh38] Chr4:103228624 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.824G>T (p.Ser275Ile)	single nucleotide variant	not provided [RCV002961972]	Chr4:102304333 [GRCh38] Chr4:103225490 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.133G>T (p.Ala45Ser)	single nucleotide variant	not provided [RCV002601061]	Chr4:102344530 [GRCh38] Chr4:103265687 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.1253T>C (p.Met418Thr)	single nucleotide variant	not provided [RCV002602012]	Chr4:102263174 [GRCh38] Chr4:103184331 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.1049-10C>A	single nucleotide variant	not provided [RCV003086339]	Chr4:102267684 [GRCh38] Chr4:103188841 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.69G>A (p.Glu23=)	single nucleotide variant	not provided [RCV002833547]	Chr4:102344594 [GRCh38] Chr4:103265751 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.960G>C (p.Leu320=)	single nucleotide variant	not provided [RCV002580020]	Chr4:102267960 [GRCh38] Chr4:103189117 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.219+13G>A	single nucleotide variant	not provided [RCV002653489]	Chr4:102344431 [GRCh38] Chr4:103265588 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.676-18G>T	single nucleotide variant	not provided [RCV002604164]	Chr4:102304499 [GRCh38] Chr4:103225656 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.1191A>G (p.Ala397=)	single nucleotide variant	not provided [RCV002604883]	Chr4:102267532 [GRCh38] Chr4:103188689 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.1233+15A>G	single nucleotide variant	not provided [RCV002604005]	Chr4:102267475 [GRCh38] Chr4:103188632 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.1049-13C>T	single nucleotide variant	not provided [RCV002586492]	Chr4:102267687 [GRCh38] Chr4:103188844 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.1234-18A>G	single nucleotide variant	not provided [RCV002589132]	Chr4:102263211 [GRCh38] Chr4:103184368 [GRCh37] Chr4:4q24	likely benign
NC_000004.11:g.(?_101947022)_(107268849_?)dup	duplication	not provided [RCV003154901]	Chr4:101947022..107268849 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.689A>G (p.His230Arg)	single nucleotide variant	Inborn genetic diseases [RCV003203865]	Chr4:102304468 [GRCh38] Chr4:103225625 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.*1062C>T	single nucleotide variant	SLC39A8-CDG [RCV003136780]	Chr4:102261982 [GRCh38] Chr4:103183139 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.1372G>C (p.Glu458Gln)	single nucleotide variant	SLC39A8-CDG [RCV003136779]	Chr4:102263055 [GRCh38] Chr4:103184212 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.716A>G (p.Gln239Arg)	single nucleotide variant	Inborn genetic diseases [RCV003263134]	Chr4:102304441 [GRCh38] Chr4:103225598 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.524C>G (p.Ser175Ter)	single nucleotide variant	not provided [RCV003329620]	Chr4:102307464 [GRCh38] Chr4:103228621 [GRCh37] Chr4:4q24	uncertain significance
GRCh37/hg19 4q23-24(chr4:100542119-103793167)x1	copy number loss	not provided [RCV003485432]	Chr4:100542119..103793167 [GRCh37] Chr4:4q23-24	pathogenic
NM_001135146.2(SLC39A8):c.382+2T>C	single nucleotide variant	not provided [RCV003442377]	Chr4:102315666 [GRCh38] Chr4:103236823 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.309A>T (p.Ala103=)	single nucleotide variant	not provided [RCV003849704]	Chr4:102315741 [GRCh38] Chr4:103236898 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.99G>A (p.Val33=)	single nucleotide variant	not provided [RCV003839864]	Chr4:102344564 [GRCh38] Chr4:103265721 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.54C>G (p.Leu18=)	single nucleotide variant	not provided [RCV003838730]	Chr4:102344609 [GRCh38] Chr4:103265766 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.322T>C (p.Leu108=)	single nucleotide variant	not provided [RCV003832421]	Chr4:102315728 [GRCh38] Chr4:103236885 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.1093G>A (p.Ala365Thr)	single nucleotide variant	not provided [RCV003558997]	Chr4:102267630 [GRCh38] Chr4:103188787 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.88A>G (p.Ser30Gly)	single nucleotide variant	not provided [RCV003728433]	Chr4:102344575 [GRCh38] Chr4:103265732 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.1071T>C (p.Asn357=)	single nucleotide variant	not provided [RCV003861194]	Chr4:102267652 [GRCh38] Chr4:103188809 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.660A>G (p.Leu220=)	single nucleotide variant	not provided [RCV003866026]	Chr4:102305004 [GRCh38] Chr4:103226161 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.841-13G>T	single nucleotide variant	not provided [RCV003685042]	Chr4:102268092 [GRCh38] Chr4:103189249 [GRCh37] Chr4:4q24	likely benign
GRCh37/hg19 4q23-24(chr4:99355670-107274288)x1	copy number loss	not specified [RCV003986486]	Chr4:99355670..107274288 [GRCh37] Chr4:4q23-24	pathogenic
NM_001135146.2(SLC39A8):c.963G>A (p.Ala321=)	single nucleotide variant	not provided [RCV003731687]	Chr4:102267957 [GRCh38] Chr4:103189114 [GRCh37] Chr4:4q24	likely benign
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	copy number gain	not specified [RCV003986496]	Chr4:101203509..190957473 [GRCh37] Chr4:4q24-35.2	pathogenic
GRCh37/hg19 4q23-25(chr4:100172302-107880077)x1	copy number loss	not specified [RCV003986501]	Chr4:100172302..107880077 [GRCh37] Chr4:4q23-25	pathogenic
NM_001135146.2(SLC39A8):c.190C>T (p.Pro64Ser)	single nucleotide variant	not provided [RCV003730052]	Chr4:102344473 [GRCh38] Chr4:103265630 [GRCh37] Chr4:4q24	benign
NM_001135146.2(SLC39A8):c.1359T>C (p.Tyr453=)	single nucleotide variant	not provided [RCV003854148]	Chr4:102263068 [GRCh38] Chr4:103184225 [GRCh37] Chr4:4q24	likely benign
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	copy number gain	not provided [RCV003885507]	Chr4:45455621..191003541 [GRCh37] Chr4:4p12-q35.2	pathogenic
NM_001135147.1(SLC39A8):c.1267-4G>C	single nucleotide variant	SLC39A8-related disorder [RCV003957150]	Chr4:102259518 [GRCh38] Chr4:103180675 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.951C>T (p.Ile317=)	single nucleotide variant	SLC39A8-related disorder [RCV003946781]	Chr4:102267969 [GRCh38] Chr4:103189126 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.1049-17TCT[6]	microsatellite	SLC39A8-related disorder [RCV003902229]	Chr4:102267676..102267677 [GRCh38] Chr4:103188833..103188834 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.1007C>A (p.Thr336Asn)	single nucleotide variant	Inborn genetic diseases [RCV004461602]	Chr4:102267913 [GRCh38] Chr4:103189070 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.880G>A (p.Gly294Arg)	single nucleotide variant	Inborn genetic diseases [RCV004461604]	Chr4:102268040 [GRCh38] Chr4:103189197 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.1120T>A (p.Cys374Ser)	single nucleotide variant	SLC39A8-CDG [RCV004560485]	Chr4:102267603 [GRCh38] Chr4:103188760 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.876G>C (p.Leu292Phe)	single nucleotide variant	not provided [RCV004592409]	Chr4:102268044 [GRCh38] Chr4:103189201 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.495del (p.Phe165fs)	deletion	not provided [RCV004592101]	Chr4:102307493 [GRCh38] Chr4:103228650 [GRCh37] Chr4:4q24	uncertain significance
NC_000004.11:g.(?_101947022)_(104640852_?)del	deletion	not provided [RCV004580833]	Chr4:101947022..104640852 [GRCh37] Chr4:4q24	pathogenic
NM_001135146.2(SLC39A8):c.902G>A (p.Gly301Glu)	single nucleotide variant	Inborn genetic diseases [RCV004674707]	Chr4:102268018 [GRCh38] Chr4:103189175 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.1301T>C (p.Met434Thr)	single nucleotide variant	Inborn genetic diseases [RCV004674708]	Chr4:102263126 [GRCh38] Chr4:103184283 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.513G>T (p.Gly171=)	single nucleotide variant	not specified [RCV004702730]	Chr4:102307475 [GRCh38] Chr4:103228632 [GRCh37] Chr4:4q24	likely benign
NM_001135146.2(SLC39A8):c.781G>A (p.Ala261Thr)	single nucleotide variant	not provided [RCV004767954]	Chr4:102304376 [GRCh38] Chr4:103225533 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.863del (p.Ser288fs)	deletion	not provided [RCV004767955]	Chr4:102268057 [GRCh38] Chr4:103189214 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.227C>T (p.Thr76Ile)	single nucleotide variant	not specified [RCV004702719]	Chr4:102315823 [GRCh38] Chr4:103236980 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.220-1G>T	single nucleotide variant	not provided [RCV004775205]	Chr4:102315831 [GRCh38] Chr4:103236988 [GRCh37] Chr4:4q24	uncertain significance
NM_001135146.2(SLC39A8):c.346C>T (p.Arg116Trp)	single nucleotide variant	Inborn genetic diseases [RCV003342704]	Chr4:102315704 [GRCh38] Chr4:103236861 [GRCh37] Chr4:4q24	likely benign

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2482
Count of miRNA genes:	1020
Interacting mature miRNAs:	1227
Transcripts:	ENST00000356736, ENST00000394833, ENST00000424970, ENST00000502903, ENST00000510255, ENST00000512337, ENST00000512657, ENST00000514000
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
407288903	GWAS937879_H	neuroimaging measurement QTL GWAS937879 (human)		7e-39	neuroimaging measurement		4	102267552	102267553	Human
407263303	GWAS912279_H	neuroimaging measurement QTL GWAS912279 (human)		2e-11	argininate measurement	serum gamma-glutamyltransferase activity level (CMO:0002241)	4	102267552	102267553	Human
407356482	GWAS1005458_H	high density lipoprotein cholesterol measurement QTL GWAS1005458 (human)		3e-26	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407353922	GWAS1002898_H	very low density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS1002898 (human)		7e-16	very low density lipoprotein cholesterol measurement, phospholipids:total lipids ratio	blood very low density lipoprotein cholesterol level (CMO:0000648)	4	102267552	102267553	Human
407388237	GWAS1037213_H	brain volume measurement QTL GWAS1037213 (human)		1e-49	brain volume measurement	brain morphological measurement (CMO:0000136)	4	102267552	102267553	Human
407212098	GWAS861074_H	protein kinase C-binding protein NELL1 measurement QTL GWAS861074 (human)		8e-13	BMI-adjusted waist-hip ratio	body fat percentage (CMO:0000302)	4	102267552	102267553	Human
407382592	GWAS1031568_H	blood protein measurement QTL GWAS1031568 (human)		6e-63	blood protein measurement	blood protein measurement (CMO:0000028)	4	102267552	102267553	Human
406893642	GWAS542618_H	diastolic blood pressure QTL GWAS542618 (human)		5e-33	diastolic blood pressure	diastolic blood pressure (CMO:0000005)	4	102267552	102267553	Human
407150158	GWAS799134_H	neuroimaging measurement, brain volume measurement QTL GWAS799134 (human)		1e-23	phospholipid measurement, high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407057480	GWAS706456_H	intelligence QTL GWAS706456 (human)		3e-08	intelligence		4	102295625	102295626	Human
407381573	GWAS1030549_H	blood protein measurement QTL GWAS1030549 (human)		2e-95	blood protein measurement	blood protein measurement (CMO:0000028)	4	102267552	102267553	Human
407286856	GWAS935832_H	neuroimaging measurement QTL GWAS935832 (human)		2e-39	brain volume measurement	brain morphological measurement (CMO:0000136)	4	102267552	102267553	Human
407354952	GWAS1003928_H	free cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1003928 (human)		9e-25	free cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407357512	GWAS1006488_H	cortical thickness QTL GWAS1006488 (human)		0.0000002	cortical thickness		4	102267552	102267553	Human
407212106	GWAS861082_H	bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 measurement QTL GWAS861082 (human)		9e-17	phospholipid measurement, high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407388251	GWAS1037227_H	brain volume measurement QTL GWAS1037227 (human)		3e-104	brain volume measurement	brain morphological measurement (CMO:0000136)	4	102267552	102267553	Human
407252562	GWAS901538_H	diastolic blood pressure QTL GWAS901538 (human)		9e-21	diastolic blood pressure	diastolic blood pressure (CMO:0000005)	4	102267552	102267553	Human
407000151	GWAS649127_H	hematocrit QTL GWAS649127 (human)		2e-40	hematocrit	hematocrit (CMO:0000037)	4	102267552	102267553	Human
407355474	GWAS1004450_H	BMI-adjusted waist circumference QTL GWAS1004450 (human)		1e-08	BMI-adjusted waist circumference		4	102270630	102270631	Human
407090777	GWAS739753_H	low density lipoprotein cholesterol measurement QTL GWAS739753 (human)		1e-10	cortical thickness	mean corpuscular volume (CMO:0000038)	4	102267552	102267553	Human
407388244	GWAS1037220_H	brain volume measurement QTL GWAS1037220 (human)		2e-103	brain volume measurement	brain morphological measurement (CMO:0000136)	4	102267552	102267553	Human
407041631	GWAS690607_H	sitting height ratio QTL GWAS690607 (human)		0.000004	sitting height ratio		4	102283688	102283689	Human
407355992	GWAS1004968_H	high density lipoprotein cholesterol measurement QTL GWAS1004968 (human)		6e-80	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407028834	GWAS677810_H	amygdala volume QTL GWAS677810 (human)		4e-10	amygdala volume	brain weight to body weight ratio (CMO:0000139)	4	102270630	102270631	Human
407042145	GWAS691121_H	body mass index QTL GWAS691121 (human)		0.000002	physical activity measurement	voluntary body movement measurement (CMO:0000954)	4	102267552	102267553	Human
407082592	GWAS731568_H	systolic blood pressure QTL GWAS731568 (human)		1e-17	cerebral cortex morphology trait (VT:0000788)	tibia-fibula cortical bone total cross-sectional area (CMO:0001721)	4	102267552	102267553	Human
407352419	GWAS1001395_H	amygdala volume QTL GWAS1001395 (human)		5e-41	amygdala volume	brain weight to body weight ratio (CMO:0000139)	4	102267552	102267553	Human
407352418	GWAS1001394_H	amygdala volume QTL GWAS1001394 (human)		1e-84	amygdala volume	brain weight to body weight ratio (CMO:0000139)	4	102267552	102267553	Human
407136355	GWAS785331_H	high density lipoprotein cholesterol measurement QTL GWAS785331 (human)		7e-11	grip strength measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407026282	GWAS675258_H	amygdala volume QTL GWAS675258 (human)		3e-09	amygdala volume	brain weight to body weight ratio (CMO:0000139)	4	102304790	102304791	Human
407026283	GWAS675259_H	amygdala volume QTL GWAS675259 (human)		2e-15	amygdala volume	brain weight to body weight ratio (CMO:0000139)	4	102312050	102312051	Human
407026280	GWAS675256_H	amygdala volume QTL GWAS675256 (human)		7e-17	amygdala volume	brain weight to body weight ratio (CMO:0000139)	4	102283201	102283202	Human
407386724	GWAS1035700_H	metabolite measurement QTL GWAS1035700 (human)		3e-37	metabolite measurement		4	102267552	102267553	Human
407026286	GWAS675262_H	amygdala volume QTL GWAS675262 (human)		6e-21	amygdala volume	brain weight to body weight ratio (CMO:0000139)	4	102320791	102320792	Human
407268459	GWAS917435_H	alcohol consumption measurement QTL GWAS917435 (human)		2e-22	blood lipid amount (VT:0003949)	body mass index (BMI) (CMO:0000105)	4	102267552	102267553	Human
407316586	GWAS965562_H	opioid use disorder QTL GWAS965562 (human)		4e-10	conditioned place preference behavior trait (VT:0010723)		4	102276925	102276926	Human
407026284	GWAS675260_H	amygdala volume QTL GWAS675260 (human)		1e-09	amygdala volume	brain weight to body weight ratio (CMO:0000139)	4	102312454	102312455	Human
407233642	GWAS882618_H	total lipids in HDL measurement QTL GWAS882618 (human)		6e-18	total lipids in HDL measurement		4	102267552	102267553	Human
407067244	GWAS716220_H	schizophrenia, anorexia nervosa QTL GWAS716220 (human)		6e-09	schizophrenia, anorexia nervosa		4	102276925	102276926	Human
407285873	GWAS934849_H	grip strength measurement QTL GWAS934849 (human)		4e-23	neuroimaging measurement		4	102267552	102267553	Human
407209597	GWAS858573_H	cognitive function measurement QTL GWAS858573 (human)		3e-10	cognitive function measurement		4	102276925	102276926	Human
407086201	GWAS735177_H	balding measurement QTL GWAS735177 (human)		4e-20	balding measurement	coat/hair morphological measurement (CMO:0001807)	4	102267552	102267553	Human
407215231	GWAS864207_H	brain volume measurement QTL GWAS864207 (human)		2e-20	brain volume measurement	brain morphological measurement (CMO:0000136)	4	102276925	102276926	Human
406985854	GWAS634830_H	bitter alcoholic beverage consumption measurement QTL GWAS634830 (human)		3e-14	multisite chronic pain	drink intake measurement (CMO:0000771)	4	102276925	102276926	Human
407026690	GWAS675666_H	amygdala volume QTL GWAS675666 (human)		1e-12	amygdala volume	brain weight to body weight ratio (CMO:0000139)	4	102320791	102320792	Human
407353349	GWAS1002325_H	free cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS1002325 (human)		9e-23	free cholesterol measurement, high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407026688	GWAS675664_H	amygdala volume QTL GWAS675664 (human)		6e-12	amygdala volume	brain weight to body weight ratio (CMO:0000139)	4	102283201	102283202	Human
406897668	GWAS546644_H	fornix volume measurement QTL GWAS546644 (human)		1e-18	fornix volume measurement		4	102276925	102276926	Human
407197696	GWAS846672_H	cyclic AMP-dependent transcription factor ATF-6 alpha measurement QTL GWAS846672 (human)		1e-19	cortical thickness		4	102267552	102267553	Human
407404559	GWAS1053535_H	obsolete_red blood cell distribution width QTL GWAS1053535 (human)		6e-11	obsolete_red blood cell distribution width	red blood cell distribution width- standard deviation (CMO:0003232)	4	102326283	102326284	Human
406960139	GWAS609115_H	body mass index QTL GWAS609115 (human)		2e-08	body mass index	body mass index (BMI) (CMO:0000105)	4	102312050	102312051	Human
407388163	GWAS1037139_H	neuroimaging measurement QTL GWAS1037139 (human)		9e-52	neuroimaging measurement		4	102267552	102267553	Human
406960138	GWAS609114_H	body mass index QTL GWAS609114 (human)		3e-08	body mass index	body mass index (BMI) (CMO:0000105)	4	102269072	102269073	Human
407388166	GWAS1037142_H	neuroimaging measurement QTL GWAS1037142 (human)		5e-97	neuroimaging measurement		4	102267552	102267553	Human
407351830	GWAS1000806_H	triglycerides:total lipids ratio, intermediate density lipoprotein measurement QTL GWAS1000806 (human)		8e-15	triglycerides:total lipids ratio, intermediate density lipoprotein measurement	blood intermediate density lipoprotein cholesterol level (CMO:0001562)	4	102267552	102267553	Human
407352339	GWAS1001315_H	free cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1001315 (human)		7e-17	mean arterial pressure	mean arterial blood pressure (CMO:0000009)	4	102267552	102267553	Human
407047190	GWAS696166_H	alcohol use disorder measurement QTL GWAS696166 (human)		7e-34	alcohol use disorder measurement		4	102276925	102276926	Human
407351839	GWAS1000815_H	cholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1000815 (human)		6e-09	post-traumatic stress disorder	blood low density lipoprotein cholesterol level (CMO:0000053)	4	102267552	102267553	Human
407291935	GWAS940911_H	alcohol consumption measurement QTL GWAS940911 (human)		0.000004	alcohol consumption measurement	ethanol drink intake rate (CMO:0001407)	4	102263082	102263083	Human
407094297	GWAS743273_H	risk-taking behaviour QTL GWAS743273 (human)		3e-11	risk-taking behaviour		4	102276925	102276926	Human
406992925	GWAS641901_H	alcohol dependence measurement QTL GWAS641901 (human)		5e-15	alcohol dependence measurement		4	102276925	102276926	Human
407219748	GWAS868724_H	schizophrenia QTL GWAS868724 (human)		9e-13	schizophrenia		4	102276925	102276926	Human
407378991	GWAS1027967_H	calcium measurement QTL GWAS1027967 (human)		3e-48	calcium measurement	blood calcium level (CMO:0000502)	4	102267552	102267553	Human
407258657	GWAS907633_H	taste liking measurement QTL GWAS907633 (human)		8e-13	taste liking measurement		4	102276925	102276926	Human
407216686	GWAS865662_H	apolipoprotein A 1 measurement QTL GWAS865662 (human)		2e-16	blood lipid amount (VT:0003949)	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407376932	GWAS1025908_H	neuroimaging measurement QTL GWAS1025908 (human)		6e-169	neuroimaging measurement		4	102267552	102267553	Human
407203883	GWAS852859_H	alcohol consumption measurement QTL GWAS852859 (human)		3e-59	alcohol consumption measurement	ethanol drink intake rate (CMO:0001407)	4	102267552	102267553	Human
407286839	GWAS935815_H	neuroimaging measurement QTL GWAS935815 (human)		1e-42	neuroimaging measurement		4	102267552	102267553	Human
406927920	GWAS576896_H	HDL cholesterol change measurement, physical activity QTL GWAS576896 (human)		5e-19	HDL cholesterol change measurement, physical activity	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102276925	102276926	Human
407078961	GWAS727937_H	triglyceride measurement QTL GWAS727937 (human)		6e-15	triglyceride measurement	blood triglyceride level (CMO:0000118)	4	102267552	102267553	Human
407350837	GWAS999813_H	sphingomyelin measurement QTL GWAS999813 (human)		5e-16	sphingomyelin measurement		4	102267552	102267553	Human
407383098	GWAS1032074_H	systolic blood pressure QTL GWAS1032074 (human)		5e-36	systolic blood pressure	systolic blood pressure (CMO:0000004)	4	102267552	102267553	Human
406986800	GWAS635776_H	grip strength measurement QTL GWAS635776 (human)		3e-26	grip strength measurement		4	102276925	102276926	Human
407282229	GWAS931205_H	sleep duration QTL GWAS931205 (human)		3e-13	cortical thickness	blood very low density lipoprotein cholesterol level (CMO:0000648)	4	102267552	102267553	Human
407363124	GWAS1012100_H	brain connectivity measurement QTL GWAS1012100 (human)		3e-35	brain connectivity measurement		4	102267552	102267553	Human
406897717	GWAS546693_H	brain age measurement QTL GWAS546693 (human)		1e-13	brain morphology trait (VT:0002152)		4	102276925	102276926	Human
406914615	GWAS563591_H	low density lipoprotein cholesterol measurement QTL GWAS563591 (human)		0.000008	body mass index	body mass index (BMI) (CMO:0000105)	4	102267552	102267553	Human
407026228	GWAS675204_H	amygdala volume QTL GWAS675204 (human)		1e-13	amygdala volume	brain weight to body weight ratio (CMO:0000139)	4	102269072	102269073	Human
406947895	GWAS596871_H	alcohol consumption measurement QTL GWAS596871 (human)		2e-35	alcohol consumption measurement	ethanol drink intake rate (CMO:0001407)	4	102276925	102276926	Human
407388223	GWAS1037199_H	neuroimaging measurement QTL GWAS1037199 (human)		4e-37	neuroimaging measurement		4	102267552	102267553	Human
407393840	GWAS1042816_H	serum albumin measurement QTL GWAS1042816 (human)		8e-33	serum albumin measurement	serum albumin level (CMO:0000550)	4	102267552	102267553	Human
407390257	GWAS1039233_H	total cholesterol measurement QTL GWAS1039233 (human)		6e-45	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	4	102267552	102267553	Human
406995515	GWAS644491_H	intelligence QTL GWAS644491 (human)		5e-11	intelligence		4	102278610	102278611	Human
407023166	GWAS672142_H	educational attainment QTL GWAS672142 (human)		4e-58	educational attainment		4	102276925	102276926	Human
407352378	GWAS1001354_H	high density lipoprotein cholesterol measurement QTL GWAS1001354 (human)		5e-118	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407382582	GWAS1031558_H	blood protein measurement QTL GWAS1031558 (human)		1e-62	blood protein measurement	blood protein measurement (CMO:0000028)	4	102267552	102267553	Human
407286841	GWAS935817_H	neuroimaging measurement QTL GWAS935817 (human)		2e-41	neuroimaging measurement		4	102267552	102267553	Human
407398967	GWAS1047943_H	schizophrenia QTL GWAS1047943 (human)		3e-23	schizophrenia		4	102267552	102267553	Human
407354054	GWAS1003030_H	amygdala volume QTL GWAS1003030 (human)		7e-99	amygdala volume	brain weight to body weight ratio (CMO:0000139)	4	102267552	102267553	Human
406892738	GWAS541714_H	body mass index QTL GWAS541714 (human)		4e-16	free cholesterol in very large HDL measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407327429	GWAS976405_H	neuroimaging measurement QTL GWAS976405 (human)		1e-30	white matter microstructure measurement		4	102267552	102267553	Human
406981319	GWAS630295_H	vital capacity QTL GWAS630295 (human)		9e-18	triglyceride:HDL cholesterol ratio		4	102267552	102267553	Human
407359178	GWAS1008154_H	osteoarthritis QTL GWAS1008154 (human)		6e-17	osteoarthritis		4	102267552	102267553	Human
407192267	GWAS841243_H	myelin protein P0 measurement QTL GWAS841243 (human)		3e-25	myelin protein P0 measurement		4	102267552	102267553	Human
407351496	GWAS1000472_H	total cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS1000472 (human)		1e-22	cortical thickness	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407098579	GWAS747555_H	alcohol consumption measurement QTL GWAS747555 (human)		7e-09	free cholesterol measurement, high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407328469	GWAS977445_H	brain volume measurement QTL GWAS977445 (human)		4e-18	amygdala volume	brain weight to body weight ratio (CMO:0000139)	4	102267552	102267553	Human
407149783	GWAS798759_H	neuroimaging measurement, brain volume measurement QTL GWAS798759 (human)		5e-73	neuroimaging measurement, brain volume measurement	brain morphological measurement (CMO:0000136)	4	102267552	102267553	Human
407212753	GWAS861729_H	intelligence QTL GWAS861729 (human)		5e-23	intelligence		4	102267552	102267553	Human
407004375	GWAS653351_H	hemoglobin measurement QTL GWAS653351 (human)		7e-32	hemoglobin measurement	hemoglobin measurement (CMO:0000508)	4	102267552	102267553	Human
407345375	GWAS994351_H	sleep duration QTL GWAS994351 (human)		5e-10	sleep duration		4	102307673	102307674	Human
407380690	GWAS1029666_H	serum homoarginine measurement QTL GWAS1029666 (human)		5e-19	serum homoarginine measurement		4	102267552	102267553	Human
407396562	GWAS1045538_H	cortical thickness QTL GWAS1045538 (human)		6e-175	cortical thickness		4	102267552	102267553	Human
407354588	GWAS1003564_H	free cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS1003564 (human)		5e-22	free cholesterol measurement, high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
406998751	GWAS647727_H	intelligence QTL GWAS647727 (human)		8e-17	intelligence		4	102267552	102267553	Human
407354073	GWAS1003049_H	cholesteryl ester measurement, high density lipoprotein cholesterol measurement QTL GWAS1003049 (human)		4e-26	blood lipid amount (VT:0003949)	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407166692	GWAS815668_H	osteoarthritis QTL GWAS815668 (human)		8e-19	cortical thickness	blood protein measurement (CMO:0000028)	4	102267552	102267553	Human
407076579	GWAS725555_H	brain volume measurement QTL GWAS725555 (human)		2e-18	cortical thickness	brain weight to body weight ratio (CMO:0000139)	4	102267552	102267553	Human
407082210	GWAS731186_H	alcohol drinking, high density lipoprotein cholesterol measurement QTL GWAS731186 (human)		1e-29	alcohol drinking, high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102276925	102276926	Human
407380716	GWAS1029692_H	high density lipoprotein cholesterol measurement QTL GWAS1029692 (human)		2e-57	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407114476	GWAS763452_H	mean corpuscular volume QTL GWAS763452 (human)		2e-09	mean corpuscular volume	mean corpuscular volume (CMO:0000038)	4	102310770	102310771	Human
407081711	GWAS730687_H	intelligence QTL GWAS730687 (human)		6e-10	intelligence		4	102269072	102269073	Human
407096046	GWAS745022_H	alcohol consumption measurement, high density lipoprotein cholesterol measurement QTL GWAS745022 (human)		2e-32	alcohol consumption measurement, high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102276925	102276926	Human
406986477	GWAS635453_H	intelligence QTL GWAS635453 (human)		2e-09	intelligence		4	102269072	102269073	Human
407257335	GWAS906311_H	free cholesterol in HDL measurement QTL GWAS906311 (human)		5e-18	free cholesterol in HDL measurement		4	102267552	102267553	Human
407387390	GWAS1036366_H	brain volume measurement QTL GWAS1036366 (human)		1e-43	brain volume measurement	brain morphological measurement (CMO:0000136)	4	102267552	102267553	Human
407387391	GWAS1036367_H	brain volume measurement QTL GWAS1036367 (human)		6e-27	brain volume measurement	brain morphological measurement (CMO:0000136)	4	102267552	102267553	Human
407380720	GWAS1029696_H	alcohol consumption measurement QTL GWAS1029696 (human)		6e-36	alcohol consumption measurement	ethanol drink intake rate (CMO:0001407)	4	102267552	102267553	Human
407380722	GWAS1029698_H	alcohol consumption measurement QTL GWAS1029698 (human)		6e-40	alcohol consumption measurement	ethanol drink intake rate (CMO:0001407)	4	102267552	102267553	Human
407176446	GWAS825422_H	triglyceride measurement QTL GWAS825422 (human)		2e-27	triglyceride measurement	blood triglyceride level (CMO:0000118)	4	102267552	102267553	Human
407352059	GWAS1001035_H	lipid measurement, high density lipoprotein cholesterol measurement QTL GWAS1001035 (human)		9e-14	lipid measurement, high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407380724	GWAS1029700_H	alcohol consumption measurement QTL GWAS1029700 (human)		7e-15	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	4	102267552	102267553	Human
407260922	GWAS909898_H	brain volume measurement QTL GWAS909898 (human)		3e-17	brain volume measurement	brain morphological measurement (CMO:0000136)	4	102276925	102276926	Human
407162106	GWAS811082_H	body mass index QTL GWAS811082 (human)		2e-13	BMI-adjusted waist circumference	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407354616	GWAS1003592_H	calcium measurement QTL GWAS1003592 (human)		5e-42	calcium measurement	blood calcium level (CMO:0000502)	4	102267552	102267553	Human
407392904	GWAS1041880_H	aspartate aminotransferase measurement QTL GWAS1041880 (human)		3e-42	aspartate aminotransferase measurement	blood aspartate aminotransferase activity level (CMO:0000580)	4	102267552	102267553	Human
406924416	GWAS573392_H	total cholesterol measurement QTL GWAS573392 (human)		1e-09	taste liking measurement	blood uric acid level (CMO:0000501)	4	102267552	102267553	Human
407272068	GWAS921044_H	body height QTL GWAS921044 (human)		4e-39	body height (VT:0001253)	body height (CMO:0000106)	4	102252592	102252593	Human
407008903	GWAS657879_H	intelligence QTL GWAS657879 (human)		3e-18	neuroimaging measurement		4	102267552	102267553	Human
406984327	GWAS633303_H	cortical thickness, neuroimaging measurement QTL GWAS633303 (human)		9e-12	cortical thickness, neuroimaging measurement		4	102276925	102276926	Human
407297664	GWAS946640_H	body mass index QTL GWAS946640 (human)		5e-40	body mass index	body mass index (BMI) (CMO:0000105)	4	102267552	102267553	Human
407070347	GWAS719323_H	diastolic blood pressure, alcohol drinking QTL GWAS719323 (human)		2e-23	lipid measurement, high density lipoprotein cholesterol measurement	blood lipid measurement (CMO:0000050)	4	102267552	102267553	Human
406924426	GWAS573402_H	total cholesterol measurement QTL GWAS573402 (human)		5e-11	neuroimaging measurement	systolic blood pressure (CMO:0000004)	4	102267552	102267553	Human
406948490	GWAS597466_H	alcohol use disorder measurement QTL GWAS597466 (human)		2e-31	alcohol drinking, high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102276925	102276926	Human
407161481	GWAS810457_H	systolic blood pressure QTL GWAS810457 (human)		3e-14	cortical thickness	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407100046	GWAS749022_H	BMI-adjusted waist-hip ratio QTL GWAS749022 (human)		3e-19	cortical thickness	brain morphological measurement (CMO:0000136)	4	102267552	102267553	Human
407265929	GWAS914905_H	rotator cuff tear, shoulder impingement syndrome QTL GWAS914905 (human)		4e-08	body mass index	body mass index (BMI) (CMO:0000105)	4	102267552	102267553	Human
407085714	GWAS734690_H	alcohol consumption measurement QTL GWAS734690 (human)		1e-24	free cholesterol measurement, high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
406916755	GWAS565731_H	high density lipoprotein cholesterol measurement QTL GWAS565731 (human)		6e-21	neuroimaging measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407354003	GWAS1002979_H	brain measurement QTL GWAS1002979 (human)		6e-125	brain measurement	brain measurement (CMO:0000911)	4	102267552	102267553	Human
406886549	GWAS535525_H	cardiovascular disease biomarker measurement QTL GWAS535525 (human)		6e-10	urate measurement	blood uric acid level (CMO:0000501)	4	102267552	102267553	Human
406916756	GWAS565732_H	high density lipoprotein cholesterol measurement QTL GWAS565732 (human)		6e-22	blood lipid amount (VT:0003949)	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407305875	GWAS954851_H	alcohol use disorder measurement, longitudinal alcohol consumption measurement QTL GWAS954851 (human)		1e-25	neuroticism measurement, cognitive function measurement	body mass index (BMI) (CMO:0000105)	4	102267552	102267553	Human
407378576	GWAS1027552_H	total cholesterol measurement QTL GWAS1027552 (human)		1e-34	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	4	102267552	102267553	Human
407035544	GWAS684520_H	physical activity measurement, body mass index QTL GWAS684520 (human)		2e-08	pulse pressure measurement	pulse pressure (CMO:0000292)	4	102267552	102267553	Human
407350941	GWAS999917_H	esterified cholesterol measurement QTL GWAS999917 (human)		5e-08	blood lipid amount (VT:0003949)	blood very low density lipoprotein cholesterol level (CMO:0000648)	4	102267552	102267553	Human
407275687	GWAS924663_H	high density lipoprotein cholesterol measurement QTL GWAS924663 (human)		2e-10	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102276925	102276926	Human
407178919	GWAS827895_H	diastolic blood pressure QTL GWAS827895 (human)		6e-54	diastolic blood pressure	diastolic blood pressure (CMO:0000005)	4	102267552	102267553	Human
406904483	GWAS553459_H	systolic blood pressure QTL GWAS553459 (human)		2e-21	intelligence	systolic blood pressure (CMO:0000004)	4	102267552	102267553	Human
407076518	GWAS725494_H	risk-taking behaviour QTL GWAS725494 (human)		4e-13	neuroimaging measurement		4	102267552	102267553	Human
407362210	GWAS1011186_H	sleep duration QTL GWAS1011186 (human)		4e-12	brain measurement	brain measurement (CMO:0000911)	4	102267552	102267553	Human
407362209	GWAS1011185_H	sleep duration QTL GWAS1011185 (human)		9e-12	neuroimaging measurement		4	102267552	102267553	Human
407002789	GWAS651765_H	hemoglobin measurement QTL GWAS651765 (human)		1e-37	neuroimaging measurement	hemoglobin measurement (CMO:0000508)	4	102267552	102267553	Human
407389346	GWAS1038322_H	diastolic blood pressure QTL GWAS1038322 (human)		2e-43	diastolic blood pressure	diastolic blood pressure (CMO:0000005)	4	102267552	102267553	Human
406986408	GWAS635384_H	intelligence QTL GWAS635384 (human)		1e-09	intelligence		4	102290097	102290098	Human
407326892	GWAS975868_H	neuroimaging measurement QTL GWAS975868 (human)		5e-67	neuroimaging measurement		4	102267552	102267553	Human
407259309	GWAS908285_H	inflammatory bowel disease QTL GWAS908285 (human)		0.000001	inflammatory bowel disease		4	102267552	102267553	Human
406979759	GWAS628735_H	intelligence QTL GWAS628735 (human)		3e-11	intelligence		4	102307673	102307674	Human
407326889	GWAS975865_H	neuroimaging measurement QTL GWAS975865 (human)		6e-53	neuroimaging measurement		4	102267552	102267553	Human
407354537	GWAS1003513_H	brain measurement QTL GWAS1003513 (human)		7e-74	brain measurement	brain measurement (CMO:0000911)	4	102267552	102267553	Human
406942383	GWAS591359_H	intelligence QTL GWAS591359 (human)		2e-09	intelligence		4	102307673	102307674	Human
407076017	GWAS724993_H	brain volume measurement QTL GWAS724993 (human)		7e-14	brain volume measurement	brain morphological measurement (CMO:0000136)	4	102267552	102267553	Human
407027383	GWAS676359_H	systolic blood pressure QTL GWAS676359 (human)		0.0000001	body mass index	body mass index (BMI) (CMO:0000105)	4	102267552	102267553	Human
407126705	GWAS775681_H	diastolic blood pressure QTL GWAS775681 (human)		2e-14	serum gamma-glutamyl transferase measurement	serum gamma-glutamyltransferase activity level (CMO:0002241)	4	102267552	102267553	Human
407327423	GWAS976399_H	neuroimaging measurement QTL GWAS976399 (human)		2e-28	neuroimaging measurement		4	102267552	102267553	Human
407387313	GWAS1036289_H	alcohol consumption measurement QTL GWAS1036289 (human)		2e-56	alcohol consumption measurement	ethanol drink intake rate (CMO:0001407)	4	102267552	102267553	Human
407071417	GWAS720393_H	diastolic blood pressure, alcohol drinking QTL GWAS720393 (human)		4e-22	phospholipid measurement, high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407352509	GWAS1001485_H	phospholipid measurement QTL GWAS1001485 (human)		7e-10	white matter microstructure measurement		4	102267552	102267553	Human
407219903	GWAS868879_H	argininate measurement QTL GWAS868879 (human)		7e-19	cortical thickness		4	102267552	102267553	Human
406948027	GWAS597003_H	alcohol use disorder measurement, alcohol consumption measurement QTL GWAS597003 (human)		3e-42	alcohol use disorder measurement, alcohol consumption measurement	ethanol drink intake rate (CMO:0001407)	4	102276925	102276926	Human
407001790	GWAS650766_H	hemoglobin measurement QTL GWAS650766 (human)		1e-38	hemoglobin measurement	hemoglobin measurement (CMO:0000508)	4	102267552	102267553	Human
407073468	GWAS722444_H	alcohol consumption measurement QTL GWAS722444 (human)		5e-17	brain measurement	brain measurement (CMO:0000911)	4	102267552	102267553	Human
407351620	GWAS1000596_H	fatty acid measurement QTL GWAS1000596 (human)		9e-09	glomerular filtration rate	glomerular filtration rate (CMO:0000490)	4	102267552	102267553	Human
406970690	GWAS619666_H	erythrocyte cadmium measurement QTL GWAS619666 (human)		0.0000003	erythrocyte cadmium measurement		4	102334535	102334536	Human
407387981	GWAS1036957_H	cortical thickness QTL GWAS1036957 (human)		6e-16	cortical thickness		4	102267552	102267553	Human
407258956	GWAS907932_H	verbal-numerical reasoning measurement QTL GWAS907932 (human)		8e-17	verbal-numerical reasoning measurement		4	102276925	102276926	Human
407387992	GWAS1036968_H	neuroimaging measurement QTL GWAS1036968 (human)		1e-80	neuroimaging measurement		4	102267552	102267553	Human
407058258	GWAS707234_H	systolic blood pressure, alcohol drinking QTL GWAS707234 (human)		1e-15	blood lipid amount (VT:0003949)	blood uric acid level (CMO:0000501)	4	102267552	102267553	Human
407316821	GWAS965797_H	diet measurement QTL GWAS965797 (human)		7e-10	diet measurement	food intake measurement (CMO:0000772)	4	102276925	102276926	Human
407053648	GWAS702624_H	BMI-adjusted waist-hip ratio QTL GWAS702624 (human)		4e-19	lipid measurement, high density lipoprotein cholesterol measurement	blood lipid measurement (CMO:0000050)	4	102267552	102267553	Human
407352147	GWAS1001123_H	cholesterol:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS1001123 (human)		3e-12	argininate measurement	brain morphological measurement (CMO:0000136)	4	102267552	102267553	Human
407356242	GWAS1005218_H	brain measurement QTL GWAS1005218 (human)		2e-54	brain measurement	brain measurement (CMO:0000911)	4	102267552	102267553	Human
407069012	GWAS717988_H	body mass index QTL GWAS717988 (human)		4e-47	body mass index	body mass index (BMI) (CMO:0000105)	4	102267552	102267553	Human
407387472	GWAS1036448_H	brain volume measurement QTL GWAS1036448 (human)		3e-30	brain volume measurement	brain morphological measurement (CMO:0000136)	4	102267552	102267553	Human
407161694	GWAS810670_H	diastolic blood pressure QTL GWAS810670 (human)		2e-17	body height (VT:0001253)	body height (CMO:0000106)	4	102267552	102267553	Human
406978395	GWAS627371_H	aspartate aminotransferase measurement QTL GWAS627371 (human)		2e-12	aspartate aminotransferase measurement	blood aspartate aminotransferase activity level (CMO:0000580)	4	102268971	102268972	Human
406909786	GWAS558762_H	low density lipoprotein cholesterol measurement QTL GWAS558762 (human)		0.000007	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	4	102276925	102276926	Human
407387475	GWAS1036451_H	brain volume measurement QTL GWAS1036451 (human)		7e-31	brain volume measurement	brain morphological measurement (CMO:0000136)	4	102267552	102267553	Human
406909787	GWAS558763_H	low density lipoprotein cholesterol measurement QTL GWAS558763 (human)		0.000003	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	4	102276925	102276926	Human
407161688	GWAS810664_H	hypertension QTL GWAS810664 (human)		0.0000005	hypertension		4	102267552	102267553	Human
407095646	GWAS744622_H	hemoglobin measurement QTL GWAS744622 (human)		2e-24	cerebral cortex morphology trait (VT:0000788)	tibia-fibula cortical bone total cross-sectional area (CMO:0001721)	4	102267552	102267553	Human
407387989	GWAS1036965_H	neuroimaging measurement QTL GWAS1036965 (human)		7e-77	neuroimaging measurement		4	102267552	102267553	Human
407387477	GWAS1036453_H	brain volume measurement QTL GWAS1036453 (human)		4e-49	brain volume measurement	brain morphological measurement (CMO:0000136)	4	102267552	102267553	Human
407387990	GWAS1036966_H	neuroimaging measurement QTL GWAS1036966 (human)		3e-15	neuroimaging measurement		4	102267552	102267553	Human
407387479	GWAS1036455_H	brain volume measurement QTL GWAS1036455 (human)		1e-93	brain volume measurement	brain morphological measurement (CMO:0000136)	4	102267552	102267553	Human
407035741	GWAS684717_H	body mass index QTL GWAS684717 (human)		2e-15	body mass index	body mass index (BMI) (CMO:0000105)	4	102292205	102292206	Human
407040358	GWAS689334_H	body mass index QTL GWAS689334 (human)		0.0000004	body mass index	body mass index (BMI) (CMO:0000105)	4	102267552	102267553	Human
406891364	GWAS540340_H	initial pursuit acceleration QTL GWAS540340 (human)		0.000006	initial pursuit acceleration		4	102271086	102271087	Human
406981989	GWAS630965_H	diastolic blood pressure QTL GWAS630965 (human)		9e-10	chronic musculoskeletal pain	diastolic blood pressure (CMO:0000005)	4	102267552	102267553	Human
407363439	GWAS1012415_H	body mass index QTL GWAS1012415 (human)		4e-38	body mass index	body mass index (BMI) (CMO:0000105)	4	102267552	102267553	Human
407151470	GWAS800446_H	platelet component distribution width QTL GWAS800446 (human)		1e-29	amygdala volume	brain weight to body weight ratio (CMO:0000139)	4	102267552	102267553	Human
407319405	GWAS968381_H	schizophrenia QTL GWAS968381 (human)		5e-09	schizophrenia		4	102267552	102267553	Human
406938474	GWAS587450_H	smoking behavior, body mass index QTL GWAS587450 (human)		2e-10	triglyceride measurement	blood triglyceride level (CMO:0000118)	4	102267552	102267553	Human
407387492	GWAS1036468_H	neuroimaging measurement QTL GWAS1036468 (human)		3e-22	alcohol use disorder measurement		4	102267552	102267553	Human
406894447	GWAS543423_H	high density lipoprotein cholesterol measurement QTL GWAS543423 (human)		2e-19	body fat mass (VT:0010482)	total body fat mass (CMO:0000305)	4	102276925	102276926	Human
406958958	GWAS607934_H	high density lipoprotein cholesterol measurement QTL GWAS607934 (human)		3e-13	serum albumin measurement	serum albumin level (CMO:0000550)	4	102276925	102276926	Human
406894448	GWAS543424_H	high density lipoprotein cholesterol measurement QTL GWAS543424 (human)		7e-21	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102276925	102276926	Human
407219063	GWAS868039_H	total lipids in medium HDL measurement QTL GWAS868039 (human)		9e-15	alcohol consumption measurement	ethanol drink intake rate (CMO:0001407)	4	102267552	102267553	Human
407210358	GWAS859334_H	body mass index QTL GWAS859334 (human)		4e-46	body mass index	body mass index (BMI) (CMO:0000105)	4	102267552	102267553	Human
407073654	GWAS722630_H	Parkinson disease QTL GWAS722630 (human)		7e-08	Parkinson disease		4	102267552	102267553	Human
407418749	GWAS1067725_H	systolic blood pressure QTL GWAS1067725 (human)		6e-59	systolic blood pressure	systolic blood pressure (CMO:0000004)	4	102267552	102267553	Human
407282547	GWAS931523_H	taste liking measurement QTL GWAS931523 (human)		7e-09	taste liking measurement		4	102276925	102276926	Human
406944628	GWAS593604_H	obese body mass index status QTL GWAS593604 (human)		1e-08	taste liking measurement	body mass index (BMI) (CMO:0000105)	4	102276925	102276926	Human
407097204	GWAS746180_H	skin aging measurement QTL GWAS746180 (human)		1e-12	enzyme/coenzyme activity trait (VT:0005584)	both kidneys wet weight to body weight ratio (CMO:0000340)	4	102267552	102267553	Human
407389567	GWAS1038543_H	brain measurement, neuroimaging measurement QTL GWAS1038543 (human)		5e-324	brain measurement, neuroimaging measurement	brain measurement (CMO:0000911)	4	102267552	102267553	Human
407380853	GWAS1029829_H	low density lipoprotein cholesterol measurement QTL GWAS1029829 (human)		9e-29	low density lipoprotein cholesterol measurement	blood low density lipoprotein cholesterol level (CMO:0000053)	4	102267552	102267553	Human
407261561	GWAS910537_H	multisite chronic pain QTL GWAS910537 (human)		2e-09	ceramide measurement		4	102276925	102276926	Human
407013634	GWAS662610_H	physical activity measurement, body mass index QTL GWAS662610 (human)		8e-10	neuroimaging measurement	serum alanine aminotransferase activity level (CMO:0000575)	4	102267552	102267553	Human
407013632	GWAS662608_H	physical activity measurement, body mass index QTL GWAS662608 (human)		5e-10	mathematical ability	blood triglyceride level (CMO:0000118)	4	102267552	102267553	Human
407354117	GWAS1003093_H	cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1003093 (human)		6e-14	cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407387916	GWAS1036892_H	white matter microstructure measurement QTL GWAS1036892 (human)		3e-31	white matter microstructure measurement		4	102267552	102267553	Human
407198976	GWAS847952_H	osteoarthritis, knee QTL GWAS847952 (human)		9e-08	osteoarthritis, knee		4	102267552	102267553	Human
406916868	GWAS565844_H	Back pain QTL GWAS565844 (human)		3e-08	sexual dimorphism measurement		4	102276925	102276926	Human
407083781	GWAS732757_H	body fat percentage QTL GWAS732757 (human)		4e-10	Agents acting on the renin-angiotensin system use measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407387392	GWAS1036368_H	brain volume measurement QTL GWAS1036368 (human)		1e-119	brain volume measurement	brain morphological measurement (CMO:0000136)	4	102267552	102267553	Human
407218445	GWAS867421_H	phospholipids in medium HDL measurement QTL GWAS867421 (human)		5e-13	neuroimaging measurement		4	102267552	102267553	Human
407387393	GWAS1036369_H	brain volume measurement QTL GWAS1036369 (human)		2e-115	brain volume measurement	brain morphological measurement (CMO:0000136)	4	102267552	102267553	Human
407387394	GWAS1036370_H	brain volume measurement QTL GWAS1036370 (human)		2e-25	brain volume measurement	brain morphological measurement (CMO:0000136)	4	102267552	102267553	Human
407395075	GWAS1044051_H	triglyceride measurement QTL GWAS1044051 (human)		2e-37	triglyceride measurement	blood triglyceride level (CMO:0000118)	4	102267552	102267553	Human
407387395	GWAS1036371_H	brain volume measurement QTL GWAS1036371 (human)		4e-21	brain volume measurement	brain morphological measurement (CMO:0000136)	4	102267552	102267553	Human
407387396	GWAS1036372_H	brain volume measurement QTL GWAS1036372 (human)		5e-34	brain volume measurement	brain morphological measurement (CMO:0000136)	4	102267552	102267553	Human
407354123	GWAS1003099_H	amygdala volume QTL GWAS1003099 (human)		8e-26	amygdala volume	brain weight to body weight ratio (CMO:0000139)	4	102267552	102267553	Human
407386392	GWAS1035368_H	metabolite measurement QTL GWAS1035368 (human)		3e-20	metabolite measurement		4	102267552	102267553	Human
406918929	GWAS567905_H	bipolar disorder QTL GWAS567905 (human)		2e-08	bipolar disorder		4	102276925	102276926	Human
407384859	GWAS1033835_H	blood protein measurement QTL GWAS1033835 (human)		4e-24	hematocrit	hematocrit (CMO:0000037)	4	102267552	102267553	Human
407353620	GWAS1002596_H	triglycerides:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1002596 (human)		3e-11	systolic blood pressure	systolic blood pressure (CMO:0000004)	4	102267552	102267553	Human
407149840	GWAS798816_H	brain measurement, neuroimaging measurement QTL GWAS798816 (human)		3e-124	brain measurement, neuroimaging measurement	brain measurement (CMO:0000911)	4	102267552	102267553	Human
406893335	GWAS542311_H	pain QTL GWAS542311 (human)		0.000008	pain		4	102262353	102262354	Human
407321375	GWAS970351_H	liver fat measurement, liver disease biomarker QTL GWAS970351 (human)		1e-133	liver lipid amount (VT:0010764)	liver fat morphological measurement (CMO:0002187)	4	102267552	102267553	Human
407108891	GWAS757867_H	erythrocyte count QTL GWAS757867 (human)		2e-12	erythrocyte count	red blood cell count (CMO:0000025)	4	102307673	102307674	Human
407093530	GWAS742506_H	lifestyle measurement QTL GWAS742506 (human)		2e-12	neuroimaging measurement	body mass index (BMI) (CMO:0000105)	4	102267552	102267553	Human
407394578	GWAS1043554_H	high density lipoprotein cholesterol measurement QTL GWAS1043554 (human)		1e-185	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407089432	GWAS738408_H	apolipoprotein A 1 measurement QTL GWAS738408 (human)		5e-82	apolipoprotein A 1 measurement	blood apolipoprotein AI level (CMO:0000520)	4	102267552	102267553	Human
407149850	GWAS798826_H	cortical thickness, neuroimaging measurement QTL GWAS798826 (human)		8e-38	cortical thickness, neuroimaging measurement		4	102267552	102267553	Human
407364376	GWAS1013352_H	blood protein measurement QTL GWAS1013352 (human)		3e-36	blood protein measurement	blood protein measurement (CMO:0000028)	4	102267552	102267553	Human
406937886	GWAS586862_H	smoking behavior, body mass index QTL GWAS586862 (human)		3e-10	triglycerides:total lipids ratio, very low density lipoprotein cholesterol measurement	blood very low density lipoprotein cholesterol level (CMO:0000648)	4	102267552	102267553	Human
407336741	GWAS985717_H	body height QTL GWAS985717 (human)		3e-28	body height (VT:0001253)	brain morphological measurement (CMO:0000136)	4	102267552	102267553	Human
407307045	GWAS956021_H	alcohol use disorder measurement, longitudinal alcohol consumption measurement QTL GWAS956021 (human)		2e-30	brain volume measurement	brain morphological measurement (CMO:0000136)	4	102267552	102267553	Human
407381805	GWAS1030781_H	handedness QTL GWAS1030781 (human)		5e-14	handedness		4	102267552	102267553	Human
407257889	GWAS906865_H	anthropometric measurement QTL GWAS906865 (human)		3e-43	anthropometric measurement	body morphological measurement (CMO:0000021)	4	102267552	102267553	Human
407247649	GWAS896625_H	schizophrenia QTL GWAS896625 (human)		6e-11	schizophrenia		4	102276925	102276926	Human
407328044	GWAS977020_H	brain volume measurement QTL GWAS977020 (human)		1e-18	brain volume measurement	brain morphological measurement (CMO:0000136)	4	102267552	102267553	Human
407316780	GWAS965756_H	alcohol consumption measurement QTL GWAS965756 (human)		3e-29	alcohol consumption measurement	ethanol drink intake rate (CMO:0001407)	4	102276925	102276926	Human
407087411	GWAS736387_H	high density lipoprotein cholesterol measurement QTL GWAS736387 (human)		2e-108	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407089971	GWAS738947_H	brain volume measurement QTL GWAS738947 (human)		2e-15	blood protein measurement	blood protein measurement (CMO:0000028)	4	102267552	102267553	Human
407111991	GWAS760967_H	hypertension QTL GWAS760967 (human)		5e-12	hypertension		4	102267552	102267553	Human
407072560	GWAS721536_H	visceral adipose tissue measurement QTL GWAS721536 (human)		7e-13	visceral adipose tissue measurement	abdominal fat morphological measurement (CMO:0000311)	4	102276925	102276926	Human
407388466	GWAS1037442_H	galectin-3 measurement QTL GWAS1037442 (human)		4e-09	galectin-3 measurement		4	102265468	102265469	Human
407081273	GWAS730249_H	diastolic blood pressure QTL GWAS730249 (human)		8e-12	diastolic blood pressure	diastolic blood pressure (CMO:0000005)	4	102267552	102267553	Human
407355197	GWAS1004173_H	hemoglobin measurement QTL GWAS1004173 (human)		4e-25	hemoglobin measurement	hemoglobin measurement (CMO:0000508)	4	102267552	102267553	Human
407025982	GWAS674958_H	amygdala volume QTL GWAS674958 (human)		9e-13	amygdala volume	brain weight to body weight ratio (CMO:0000139)	4	102312050	102312051	Human
407025981	GWAS674957_H	amygdala volume QTL GWAS674957 (human)		4e-13	amygdala volume	brain weight to body weight ratio (CMO:0000139)	4	102271086	102271087	Human
407261497	GWAS910473_H	brain volume measurement QTL GWAS910473 (human)		5e-12	brain volume measurement	brain morphological measurement (CMO:0000136)	4	102276925	102276926	Human
407353799	GWAS1002775_H	amygdala volume QTL GWAS1002775 (human)		5e-10	amygdala volume	brain weight to body weight ratio (CMO:0000139)	4	102263082	102263083	Human
407353798	GWAS1002774_H	amygdala volume QTL GWAS1002774 (human)		8e-44	amygdala volume	brain weight to body weight ratio (CMO:0000139)	4	102267552	102267553	Human
407353796	GWAS1002772_H	amygdala volume QTL GWAS1002772 (human)		4e-29	amygdala volume	brain weight to body weight ratio (CMO:0000139)	4	102267552	102267553	Human
407214529	GWAS863505_H	body mass index QTL GWAS863505 (human)		2e-94	body mass index	body mass index (BMI) (CMO:0000105)	4	102267552	102267553	Human
407214528	GWAS863504_H	body mass index QTL GWAS863504 (human)		2e-10	osteoarthritis, hip, body mass index	body mass index (BMI) (CMO:0000105)	4	102263082	102263083	Human
407376320	GWAS1025296_H	brain connectivity measurement QTL GWAS1025296 (human)		8e-09	brain connectivity measurement		4	102267552	102267553	Human
407397825	GWAS1046801_H	high density lipoprotein cholesterol measurement QTL GWAS1046801 (human)		3e-115	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407279055	GWAS928031_H	high density lipoprotein cholesterol measurement QTL GWAS928031 (human)		7e-11	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102276925	102276926	Human
407010760	GWAS659736_H	total cholesterol measurement QTL GWAS659736 (human)		4e-09	leukocyte quantity (VT:0000217)	white blood cell count (CMO:0000027)	4	102276925	102276926	Human
407264715	GWAS913691_H	body mass index QTL GWAS913691 (human)		3e-21	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	4	102267552	102267553	Human
407067598	GWAS716574_H	total cholesterol measurement QTL GWAS716574 (human)		5e-11	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	4	102276925	102276926	Human
407067597	GWAS716573_H	total cholesterol measurement QTL GWAS716573 (human)		8e-10	total cholesterol measurement	blood total cholesterol level (CMO:0000051)	4	102276925	102276926	Human
407138250	GWAS787226_H	osteoarthritis QTL GWAS787226 (human)		9e-16	osteoarthritis		4	102276925	102276926	Human
406942673	GWAS591649_H	insomnia measurement QTL GWAS591649 (human)		3e-16	insomnia measurement		4	102276925	102276926	Human
407354324	GWAS1003300_H	apolipoprotein A 1 measurement QTL GWAS1003300 (human)		7e-22	coffee consumption measurement, alcohol consumption measurement	ethanol drink intake rate (CMO:0001407)	4	102267552	102267553	Human
407300051	GWAS949027_H	body mass index QTL GWAS949027 (human)		2e-28	body mass index	body mass index (BMI) (CMO:0000105)	4	102276925	102276926	Human
407350737	GWAS999713_H	high density lipoprotein cholesterol measurement QTL GWAS999713 (human)		5e-21	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407072724	GWAS721700_H	high density lipoprotein cholesterol measurement QTL GWAS721700 (human)		0.0000002	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102276925	102276926	Human
407028702	GWAS677678_H	amygdala volume QTL GWAS677678 (human)		3e-09	amygdala volume	brain weight to body weight ratio (CMO:0000139)	4	102314483	102314484	Human
407003618	GWAS652594_H	BMI-adjusted waist circumference QTL GWAS652594 (human)		5e-20	cerebral cortex morphology trait (VT:0000788)	tibia-fibula cortical bone total cross-sectional area (CMO:0001721)	4	102267552	102267553	Human
407328229	GWAS977205_H	brain volume measurement QTL GWAS977205 (human)		2e-36	neuroimaging measurement	brain morphological measurement (CMO:0000136)	4	102267552	102267553	Human
407081441	GWAS730417_H	intelligence QTL GWAS730417 (human)		2e-10	intelligence		4	102307673	102307674	Human
407278053	GWAS927029_H	red blood cell density measurement QTL GWAS927029 (human)		1e-16	schizophrenia	systolic blood pressure (CMO:0000004)	4	102267552	102267553	Human
407244261	GWAS893237_H	free cholesterol in medium HDL measurement QTL GWAS893237 (human)		3e-17	blood lipid amount (VT:0003949)	blood uric acid level (CMO:0000501)	4	102267552	102267553	Human
407368672	GWAS1017648_H	serum gamma-glutamyl transferase measurement QTL GWAS1017648 (human)		8e-14	brain volume measurement	brain morphological measurement (CMO:0000136)	4	102267552	102267553	Human
407328238	GWAS977214_H	brain volume measurement QTL GWAS977214 (human)		3e-16	cortical thickness	brain morphological measurement (CMO:0000136)	4	102267552	102267553	Human
406887402	GWAS536378_H	body mass index QTL GWAS536378 (human)		0.0000003	body mass index	body mass index (BMI) (CMO:0000105)	4	102267552	102267553	Human
407200751	GWAS849727_H	high density lipoprotein cholesterol measurement QTL GWAS849727 (human)		2e-19	blood lipid amount (VT:0003949)	red blood cell count (CMO:0000025)	4	102267552	102267553	Human
406980584	GWAS629560_H	multisite chronic pain QTL GWAS629560 (human)		2e-13	multisite chronic pain		4	102276925	102276926	Human
407147503	GWAS796479_H	type 2 diabetes mellitus QTL GWAS796479 (human)		3e-08	osteoarthritis		4	102267552	102267553	Human
407328235	GWAS977211_H	brain volume measurement QTL GWAS977211 (human)		1e-57	brain volume measurement	brain morphological measurement (CMO:0000136)	4	102267552	102267553	Human
407328234	GWAS977210_H	brain volume measurement QTL GWAS977210 (human)		2e-53	brain volume measurement	brain morphological measurement (CMO:0000136)	4	102267552	102267553	Human
407293417	GWAS942393_H	high density lipoprotein cholesterol measurement QTL GWAS942393 (human)		2e-50	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407325687	GWAS974663_H	white matter integrity QTL GWAS974663 (human)		7e-13	neuroimaging measurement		4	102267552	102267553	Human
407268851	GWAS917827_H	body mass index QTL GWAS917827 (human)		8e-39	body mass index	body mass index (BMI) (CMO:0000105)	4	102267552	102267553	Human
407314930	GWAS963906_H	high density lipoprotein cholesterol measurement QTL GWAS963906 (human)		5e-09	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102311011	102311012	Human
407314929	GWAS963905_H	high density lipoprotein cholesterol measurement QTL GWAS963905 (human)		7e-12	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102269072	102269073	Human
407342576	GWAS991552_H	attention deficit hyperactivity disorder, autism spectrum disorder, intelligence QTL GWAS991552 (human)		1e-08	attention deficit hyperactivity disorder, autism spectrum disorder, intelligence		4	102307673	102307674	Human
407209983	GWAS858959_H	obstructive sleep apnea QTL GWAS858959 (human)		6e-13	obstructive sleep apnea		4	102267552	102267553	Human
407003641	GWAS652617_H	hematocrit QTL GWAS652617 (human)		2e-31	body mass index, osteoarthritis	body mass index (BMI) (CMO:0000105)	4	102267552	102267553	Human
407009788	GWAS658764_H	physical activity measurement, body mass index QTL GWAS658764 (human)		2e-09	physical activity measurement	body mass index (BMI) (CMO:0000105)	4	102267552	102267553	Human
407379447	GWAS1028423_H	thalamus volume QTL GWAS1028423 (human)		9e-13	thalamus volume	both kidneys wet weight to body weight ratio (CMO:0000340)	4	102267552	102267553	Human
407041410	GWAS690386_H	body mass index QTL GWAS690386 (human)		0.0000007	body mass index	body mass index (BMI) (CMO:0000105)	4	102267552	102267553	Human
407261063	GWAS910039_H	cortical thickness QTL GWAS910039 (human)		3e-15	cortical thickness		4	102276925	102276926	Human
407352708	GWAS1001684_H	amygdala volume QTL GWAS1001684 (human)		2e-20	white matter microstructure measurement	brain weight to body weight ratio (CMO:0000139)	4	102267552	102267553	Human
407198086	GWAS847062_H	cerebellar volume measurement QTL GWAS847062 (human)		3e-22	cerebellar volume measurement		4	102276925	102276926	Human
407419277	GWAS1068253_H	diastolic blood pressure QTL GWAS1068253 (human)		3e-08	diastolic blood pressure	diastolic blood pressure (CMO:0000005)	4	102263082	102263083	Human
407382912	GWAS1031888_H	blood protein measurement QTL GWAS1031888 (human)		1e-55	blood protein measurement	blood protein measurement (CMO:0000028)	4	102267552	102267553	Human
406936968	GWAS585944_H	smoking behavior, body mass index QTL GWAS585944 (human)		4e-09	cortical thickness	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407078799	GWAS727775_H	high density lipoprotein cholesterol measurement QTL GWAS727775 (human)		4e-08	attention deficit hyperactivity disorder, schizophrenia	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102276925	102276926	Human
407009167	GWAS658143_H	mean arterial pressure QTL GWAS658143 (human)		1e-11	2-oxoarginine measurement	mean arterial blood pressure (CMO:0000009)	4	102267552	102267553	Human
407097229	GWAS746205_H	waist-hip ratio QTL GWAS746205 (human)		1e-20	waist-hip ratio	waist to hip ratio (WHR) (CMO:0000020)	4	102267552	102267553	Human
407350664	GWAS999640_H	coffee consumption measurement, alcohol dependence measurement QTL GWAS999640 (human)		3e-24	coffee consumption measurement, alcohol dependence measurement		4	102267552	102267553	Human
407355287	GWAS1004263_H	osteoarthritis, hip, body mass index QTL GWAS1004263 (human)		2e-52	osteoarthritis, hip, body mass index	body mass index (BMI) (CMO:0000105)	4	102267552	102267553	Human
407196055	GWAS845031_H	hemoglobin measurement QTL GWAS845031 (human)		9e-11	hemoglobin measurement	hemoglobin measurement (CMO:0000508)	4	102267552	102267553	Human
406900628	GWAS549604_H	diastolic blood pressure QTL GWAS549604 (human)		4e-11	phospholipid measurement	mean arterial blood pressure (CMO:0000009)	4	102267552	102267553	Human
407388062	GWAS1037038_H	neuroimaging measurement QTL GWAS1037038 (human)		1e-77	neuroimaging measurement		4	102267552	102267553	Human
407361424	GWAS1010400_H	insomnia QTL GWAS1010400 (human)		4e-08	insomnia		4	102277772	102277773	Human
406900632	GWAS549608_H	diastolic blood pressure QTL GWAS549608 (human)		8e-11	diastolic blood pressure, unipolar depression	diastolic blood pressure (CMO:0000005)	4	102267552	102267553	Human
407419281	GWAS1068257_H	diastolic blood pressure QTL GWAS1068257 (human)		5e-100	diastolic blood pressure	diastolic blood pressure (CMO:0000005)	4	102267552	102267553	Human
407352221	GWAS1001197_H	triglyceride:HDL cholesterol ratio QTL GWAS1001197 (human)		5e-32	triglyceride:HDL cholesterol ratio	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407368604	GWAS1017580_H	cognitive function measurement, self reported educational attainment QTL GWAS1017580 (human)		6e-23	cognitive function measurement, self reported educational attainment		4	102267552	102267553	Human
407115167	GWAS764143_H	alcohol consumption measurement, high density lipoprotein cholesterol measurement QTL GWAS764143 (human)		2e-33	alcohol consumption measurement, high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102276925	102276926	Human
407199128	GWAS848104_H	protein set measurement QTL GWAS848104 (human)		4e-14	cortical thickness	calculated drink intake measurement (CMO:0002330)	4	102267552	102267553	Human
407355290	GWAS1004266_H	body mass index, osteoarthritis QTL GWAS1004266 (human)		2e-51	body mass index, osteoarthritis	body mass index (BMI) (CMO:0000105)	4	102267552	102267553	Human
406982559	GWAS631535_H	systolic blood pressure QTL GWAS631535 (human)		1e-36	body mass index	body mass index (BMI) (CMO:0000105)	4	102267552	102267553	Human
407180698	GWAS829674_H	insomnia QTL GWAS829674 (human)		7e-24	insomnia		4	102267552	102267553	Human
407355288	GWAS1004264_H	osteoarthritis, knee, body mass index QTL GWAS1004264 (human)		2e-48	osteoarthritis, knee, body mass index	body mass index (BMI) (CMO:0000105)	4	102267552	102267553	Human
407098787	GWAS747763_H	erythrocyte count QTL GWAS747763 (human)		6e-24	lipid measurement, high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407079335	GWAS728311_H	body height QTL GWAS728311 (human)		1e-21	body height (VT:0001253)	diastolic blood pressure (CMO:0000005)	4	102267552	102267553	Human
407026603	GWAS675579_H	amygdala volume QTL GWAS675579 (human)		8e-16	amygdala volume	brain weight to body weight ratio (CMO:0000139)	4	102276925	102276926	Human
407168429	GWAS817405_H	brain connectivity measurement QTL GWAS817405 (human)		1e-19	brain connectivity measurement		4	102276925	102276926	Human
407086505	GWAS735481_H	prostate carcinoma QTL GWAS735481 (human)		2e-08	prostate carcinoma		4	102311011	102311012	Human
407393699	GWAS1042675_H	alcohol use disorder measurement QTL GWAS1042675 (human)		8e-23	alcohol use disorder measurement		4	102267552	102267553	Human
406892978	GWAS541954_H	systolic blood pressure QTL GWAS541954 (human)		3e-09	cortical thickness	blood high density lipoprotein cholesterol level (CMO:0000052)	4	102267552	102267553	Human
407037872	GWAS686848_H	body mass index QTL GWAS686848 (human)		5e-12	body mass index	body mass index (BMI) (CMO:0000105)	4	102271086	102271087	Human
407391675	GWAS1040651_H	body mass index QTL GWAS1040651 (human)		1e-28	body mass index	body mass index (BMI) (CMO:0000105)	4	102267552	102267553	Human
406971314	GWAS620290_H	opioid use disorder QTL GWAS620290 (human)		2e-12	conditioned place preference behavior trait (VT:0010723)		4	102276925	102276926	Human
407048624	GWAS697600_H	heart failure QTL GWAS697600 (human)		2e-08	heart failure		4	102291689	102291690	Human
407037873	GWAS686849_H	body mass index QTL GWAS686849 (human)		5e-14	body mass index	body mass index (BMI) (CMO:0000105)	4	102312050	102312051	Human
406892980	GWAS541956_H	systolic blood pressure QTL GWAS541956 (human)		1e-08	cortical thickness	body mass index (BMI) (CMO:0000105)	4	102267552	102267553	Human
407035830	GWAS684806_H	diastolic blood pressure QTL GWAS684806 (human)		1e-13	neuroimaging measurement	diastolic blood pressure (CMO:0000005)	4	102267552	102267553	Human
406999994	GWAS648970_H	hematocrit QTL GWAS648970 (human)		3e-38	hematocrit	hematocrit (CMO:0000037)	4	102267552	102267553	Human
407354301	GWAS1003277_H	aspartate aminotransferase measurement QTL GWAS1003277 (human)		3e-54	aspartate aminotransferase measurement	blood aspartate aminotransferase activity level (CMO:0000580)	4	102267552	102267553	Human
407354811	GWAS1003787_H	brain measurement QTL GWAS1003787 (human)		4e-45	brain measurement	brain measurement (CMO:0000911)	4	102267552	102267553	Human
407093182	GWAS742158_H	Abnormality of refraction QTL GWAS742158 (human)		4e-17	Abnormality of refraction		4	102267552	102267553	Human

Markers in Region

G34418

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	103,234,040 - 103,234,210	UniSTS	GRCh37
Build 36	4	103,453,063 - 103,453,233	RGD	NCBI36
Celera	4	100,532,528 - 100,532,698	RGD
Cytogenetic Map	4	q22-q24	UniSTS
HuRef	4	98,971,400 - 98,971,570	UniSTS
TNG Radiation Hybrid Map	4	62988.0	UniSTS

SHGC-50443

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	103,182,910 - 103,183,014	UniSTS	GRCh37
Build 36	4	103,401,933 - 103,402,037	RGD	NCBI36
Celera	4	100,481,389 - 100,481,493	RGD
Cytogenetic Map	4	q22-q24	UniSTS
HuRef	4	98,920,261 - 98,920,365	UniSTS
TNG Radiation Hybrid Map	4	62976.0	UniSTS

RH92985

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	103,183,762 - 103,183,928	UniSTS	GRCh37
Build 36	4	103,402,785 - 103,402,951	RGD	NCBI36
Celera	4	100,482,241 - 100,482,407	RGD
Cytogenetic Map	4	q22-q24	UniSTS
HuRef	4	98,921,113 - 98,921,279	UniSTS
GeneMap99-GB4 RH Map	4	489.89	UniSTS

RH65581

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	103,254,726 - 103,254,867	UniSTS	GRCh37
Build 36	4	103,473,749 - 103,473,890	RGD	NCBI36
Celera	4	100,553,215 - 100,553,356	RGD
Cytogenetic Map	4	q22-q24	UniSTS
HuRef	4	98,992,003 - 98,992,144	UniSTS
GeneMap99-GB4 RH Map	4	494.25	UniSTS
NCBI RH Map	4	1163.1	UniSTS

PMC321570P6

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	103,183,687 - 103,184,000	UniSTS	GRCh37
Build 36	4	103,402,710 - 103,403,023	RGD	NCBI36
Celera	4	100,482,166 - 100,482,479	RGD
Cytogenetic Map	4	q22-q24	UniSTS
HuRef	4	98,921,038 - 98,921,351	UniSTS

SHGC-36631

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	103,182,833 - 103,182,958	UniSTS	GRCh37
Build 36	4	103,401,856 - 103,401,981	RGD	NCBI36
Celera	4	100,481,312 - 100,481,437	RGD
Cytogenetic Map	4	q22-q24	UniSTS
HuRef	4	98,920,184 - 98,920,309	UniSTS
Stanford-G3 RH Map	4	5740.0	UniSTS
GeneMap99-G3 RH Map	4	5668.0	UniSTS

G20730

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	103,182,871 - 103,183,098	UniSTS	GRCh37
Build 36	4	103,401,894 - 103,402,121	RGD	NCBI36
Celera	4	100,481,350 - 100,481,577	RGD
Cytogenetic Map	4	q22-q24	UniSTS
HuRef	4	98,920,222 - 98,920,449	UniSTS

A006D35

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	103,182,871 - 103,183,098	UniSTS	GRCh37
Build 36	4	103,401,894 - 103,402,121	RGD	NCBI36
Celera	4	100,481,350 - 100,481,577	RGD
Cytogenetic Map	4	q22-q24	UniSTS
HuRef	4	98,920,222 - 98,920,449	UniSTS
GeneMap99-GB4 RH Map	4	489.89	UniSTS
NCBI RH Map	4	1161.8	UniSTS

D4S2644

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	103,234,080 - 103,234,210	UniSTS	GRCh37
Build 36	4	103,453,103 - 103,453,233	RGD	NCBI36
Celera	4	100,532,568 - 100,532,698	RGD
Cytogenetic Map	4	q22-q24	UniSTS
HuRef	4	98,971,440 - 98,971,570	UniSTS
Stanford-G3 RH Map	4	5775.0	UniSTS
Whitehead-RH Map	4	533.9	UniSTS
Whitehead-YAC Contig Map	4		UniSTS

RH78848

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	4	q22-q24	UniSTS
GeneMap99-GB4 RH Map	1	596.32	UniSTS

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2436	2788	2248	4956	1724	2349	5	624	1951	464	2269	7293	6461	53	3720	1	850	1738	1615	174	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_047177	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001135146	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001135147	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001135148	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_022154	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005263177	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017008541	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024454183	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024454184	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047416070	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047416071	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350705	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350706	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350707	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350708	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350709	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB020969	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB020970	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB040120	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC098487	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF193052	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK027652	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK304274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL049963	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP002023	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC001320	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC012125	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BF000600	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI823248	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CA438467	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471057	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DR006301	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000356736 ⟹ ENSP00000349174

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	102,261,666 - 102,345,482 (-)	Ensembl

Ensembl Acc Id:

ENST00000394833 ⟹ ENSP00000378310

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	102,261,666 - 102,345,139 (-)	Ensembl

Ensembl Acc Id:

ENST00000424970 ⟹ ENSP00000394548

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	102,251,080 - 102,345,501 (-)	Ensembl

Ensembl Acc Id:

ENST00000502903

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	102,307,557 - 102,431,258 (-)	Ensembl

Ensembl Acc Id:

ENST00000510255

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	102,304,407 - 102,353,000 (-)	Ensembl

Ensembl Acc Id:

ENST00000512337

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	102,269,716 - 102,304,488 (-)	Ensembl

Ensembl Acc Id:

ENST00000512657

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	102,305,025 - 102,345,482 (-)	Ensembl

Ensembl Acc Id:

ENST00000514000

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	102,304,448 - 102,345,437 (-)	Ensembl

Ensembl Acc Id:

ENST00000682227 ⟹ ENSP00000508363

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	102,261,677 - 102,345,207 (-)	Ensembl

Ensembl Acc Id:

ENST00000682243 ⟹ ENSP00000507952

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	102,261,681 - 102,345,461 (-)	Ensembl

Ensembl Acc Id:

ENST00000682549 ⟹ ENSP00000507483

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	102,257,209 - 102,345,461 (-)	Ensembl

Ensembl Acc Id:

ENST00000682932 ⟹ ENSP00000507414

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	102,261,677 - 102,345,531 (-)	Ensembl

Ensembl Acc Id:

ENST00000683173 ⟹ ENSP00000508032

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	102,261,677 - 102,345,461 (-)	Ensembl

Ensembl Acc Id:

ENST00000683221 ⟹ ENSP00000508093

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	102,266,682 - 102,345,801 (-)	Ensembl

Ensembl Acc Id:

ENST00000683401

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	102,261,677 - 102,345,837 (-)	Ensembl

Ensembl Acc Id:

ENST00000683412 ⟹ ENSP00000507538

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	102,261,677 - 102,345,205 (-)	Ensembl

Ensembl Acc Id:

ENST00000683462 ⟹ ENSP00000507170

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	102,261,681 - 102,345,492 (-)	Ensembl

Ensembl Acc Id:

ENST00000683634 ⟹ ENSP00000507087

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	102,266,677 - 102,345,461 (-)	Ensembl

Ensembl Acc Id:

ENST00000683706 ⟹ ENSP00000506745

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	102,261,687 - 102,345,495 (-)	Ensembl

Ensembl Acc Id:

ENST00000683916 ⟹ ENSP00000508106

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	102,261,681 - 102,345,440 (-)	Ensembl

Ensembl Acc Id:

ENST00000684289 ⟹ ENSP00000506748

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	102,261,679 - 102,345,482 (-)	Ensembl

Ensembl Acc Id:

ENST00000684386 ⟹ ENSP00000507611

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	102,261,687 - 102,345,461 (-)	Ensembl

RefSeq Acc Id:

NM_001135146 ⟹ NP_001128618

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	102,261,666 - 102,345,482 (-)	NCBI
GRCh37	4	103,172,198 - 103,266,655 (-)	RGD
Celera	4	100,470,678 - 100,565,146 (-)	RGD
HuRef	4	98,909,550 - 99,003,934 (-)	RGD
CHM1_1	4	103,159,336 - 103,243,025 (-)	NCBI
T2T-CHM13v2.0	4	105,575,877 - 105,659,701 (-)	NCBI

Sequence:

show sequence

GAGTTTCACCGCGGACCTGTCAGAGATACAGAGGTTGTGGGGGCGGGAGACAGAAAGAGAGAGA
GATCCAGAGACCGAGTCTTACGTTGACACGCAGAGAGAAAGACGCAGAGACAGACAAACAAACA
GATAGGAGAGGCTCTCCAGGAGGCCGGGGGGCCCACTCCGCCTATCGCTCCCCTCGGCTACGCT
GCCACTTCAATGCCCCGCAGGTCGCGAGCTGCTGTTCTTTCGAAGGCGTCGGAGAACCAGGGGC
GTCCCGCGCCACCTCTGACTCGGAGCAGCGCCGAGCACTGACGCTCCCGCCCTTGGGCAAGGAC
GCCAGTGCGCCCGCGCGCGTCCCTCTGCGCGGCAGCCCGTCGCGGGCCCTCAAGGGGAAGCCCA
GGCCAGGATGGCCCCGGGTCGCGCGGTGGCCGGGCTCCTGTTGCTGGCGGCCGCCGGCCTCGGA
GGAGTGGCGGAGGGGCCAGGGCTAGCCTTCAGCGAGGATGTGCTGAGCGTGTTCGGCGCGAATC
TGAGCCTGTCGGCGGCGCAGCTCCAGCACTTGCTGGAGCAGATGGGAGCCGCCTCCCGCGTGGG
CGTCCCGGAGCCTGGCCAGCTGCACTTCAACCAGTGTTTAACTGCTGAAGAGATCTTTTCCCTT
CATGGCTTTTCAAATGCTACCCAAATAACCAGCTCCAAATTCTCTGTCATCTGTCCAGCAGTCT
TACAGCAATTGAACTTTCACCCATGTGAGGATCGGCCCAAGCACAAAACAAGACCAAGTCATTC
AGAAGTTTGGGGATATGGATTCCTGTCAGTGACGATTATTAATCTGGCATCTCTCCTCGGATTG
ATTTTGACTCCACTGATAAAGAAATCTTATTTCCCAAAGATTTTGACCTTTTTTGTGGGGCTGG
CTATTGGGACTCTTTTTTCAAATGCAATTTTCCAACTTATTCCAGAGGCATTTGGATTTGATCC
CAAAGTCGACAGTTATGTTGAGAAGGCAGTTGCTGTGTTTGGTGGATTTTACCTACTTTTCTTT
TTTGAAAGAATGCTAAAGATGTTATTAAAGACATATGGTCAGAATGGTCATACCCACTTTGGAA
ATGATAACTTTGGTCCTCAAGAAAAAACTCATCAACCTAAAGCATTACCTGCCATCAATGGTGT
GACATGCTATGCAAATCCTGCTGTCACAGAAGCTAATGGACATATCCATTTTGATAATGTCAGT
GTGGTATCTCTACAGGATGGAAAAAAAGAGCCAAGTTCATGTACCTGTTTGAAGGGGCCCAAAC
TGTCAGAAATAGGGACGATTGCCTGGATGATAACGCTCTGCGATGCCCTCCACAATTTCATCGA
TGGCCTGGCGATTGGGGCTTCCTGCACCTTGTCTCTCCTTCAGGGACTCAGTACTTCCATAGCA
ATCCTATGTGAGGAGTTTCCCCACGAGTTAGGAGACTTTGTGATCCTACTCAATGCAGGGATGA
GCACTCGACAAGCCTTGCTATTCAACTTCCTTTCTGCATGTTCCTGCTATGTTGGGCTAGCTTT
TGGCATTTTGGTGGGCAACAATTTCGCTCCAAATATTATATTTGCACTTGCTGGAGGCATGTTC
CTCTATATTTCTCTGGCAGATATGTTTCCAGAGATGAATGATATGCTGAGAGAAAAGGTAACTG
GAAGAAAAACCGATTTCACCTTCTTCATGATTCAGAATGCTGGAATGTTAACTGGATTCACAGC
CATTCTACTCATTACCTTGTATGCAGGAGAAATCGAATTGGAGTAATAGAAAATGGAAGATGGT
GTTGTTAATAAAGGCATTTAATAGATAAAAACATCTCCAAAAAGGATTTTGAAGCTGATCCTAT
TTAGTTAAAAAGATAATTTTGCTTTCAACTGTAGGTCCAGAAAACTAATTATTGGCATCAGTCT
GTGAAATAGTCCATTATTTGTTGTTAAAAATGCTTCAAAAGGTTTTCAGTGTCAGTCTGAGATG
CCTGGTATATAGGAGCCTTTGGGAAATACCTATTTTTCAGTATTCCATGCATATTAGATATCAC
CATGAAGCAAGAGACATGCATTCTATAATCATGTAGACACTCAGACTCAGGGGAAAATACAAGT
TATATCCTGAAAGCCTTTAAAACTCTATGGTAGGATCAAAGATTCAAATGGTTTCAGAGAGGTT
TTATTTCAATTAATTTGTTCTAGTGCTTTCAAGAGCAAGTACATCAAAATGTAGAAGGTAAAAT
GTATGCAACACTAATATAAATTATTCCAAGTCTTTAAGGAGCCAAAGAAAAAAAAGATTTCTCA
CAGCTTTTTGTTCTGTTTTGTATTTCAATTAGGAACTTGCAGTATTATTTTGAAAACCATTCTA
AAATAATAGGAGTTAGGAAATAAATAAAGTTTTGCTAGCCCTGCTAAGTTCAGGCTTAGAGGCT
TATCGCTAAGTATAAACTTCACCAGATTCCACGAAAAGCTGGATAGCTTTTTTTCTGACTTATG
TTGTGGTTGCACCCCTCACAAATGGCAGAACAGTATGTAAAGCTGGTAACACCTCGGTTTCAGT
GCACCATGTGTTTGCTTTGTGAAGGTGAAGAATATGTTGGTTTAGAGAAAGAAATTGGATGTAA
TTTTATGCAATTTACTTTTAAAGACAAACATAACTATTTAGCAGAGAATATTTTAATAAATGCA
AAACAACAGCTGGACTGCTGTACATCAAGGACAGATTAACTGGAAAACATATGTTCCTTATGTG
TGATCGAGAGCCATTCAGAAAAGACTTCCTTTGTGTTCAGCCTATACTTTTCCATATGGTATAC
CTTGAAAAAAATTAGCACACCATGGTTATTTTTCTACCTTTTATAAAAGACAGAGCCTGTTTAC
TCATTTAGAAGATAGAGAAAATTGGTCTAAAATTGAACATCCTAGATTCACACTCCCAAGTCAC
TTAAGGTGATTTGATGGTGAGGAAAATGATTGACAAAGCCCAACAATGATCTCAGGAATTACAT
TTTCCAACAGACCAAAAAATGTTTTCATGTAGCAGCAATGCAGATTTGGTGAATATTTAATATA
TATTTTAGTATGTATTTCACTTTATGACTGACAATTAAAAAATATTGTTTGGCCAAATAGTAAA
CACCCTTTTGAAACCA

hide sequence

RefSeq Acc Id:

NM_001135147 ⟹ NP_001128619

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	102,251,041 - 102,345,253 (-)	NCBI
GRCh37	4	103,172,198 - 103,266,655 (-)	RGD
Celera	4	100,470,678 - 100,565,146 (-)	RGD
HuRef	4	98,909,550 - 99,003,934 (-)	RGD
CHM1_1	4	103,148,714 - 103,242,780 (-)	NCBI
T2T-CHM13v2.0	4	105,565,252 - 105,659,472 (-)	NCBI

Sequence:

show sequence

GACTCCGGAAGAGCCCTTTTCTGCAGCTCCTTGGGGACTGCACGTCTCACTTCTAAGTTTGCGG
CGGAGAGAATAAAGCAGAAAGACAGGAAGAGGAGGTGGAGTTCTACAGCTCTCCAGGAGGCCGG
GGGGCCCACTCCGCCTATCGCTCCCCTCGGCTACGCTGCCACTTCAATGCCCCGCAGGTCGCGA
GCTGCTGTTCTTTCGAAGGCGTCGGAGAACCAGGGGCGTCCCGCGCCACCTCTGACTCGGAGCA
GCGCCGAGCACTGACGCTCCCGCCCTTGGGCAAGGACGCCAGTGCGCCCGCGCGCGTCCCTCTG
CGCGGCAGCCCGTCGCGGGCCCTCAAGGGGAAGCCCAGGCCAGGATGGCCCCGGGTCGCGCGGT
GGCCGGGCTCCTGTTGCTGGCGGCCGCCGGCCTCGGAGGAGTGGCGGAGGGGCCAGGGCTAGCC
TTCAGCGAGGATGTGCTGAGCGTGTTCGGCGCGAATCTGAGCCTGTCGGCGGCGCAGCTCCAGC
ACTTGCTGGAGCAGATGGGAGCCGCCTCCCGCGTGGGCGTCCCGGAGCCTGGCCAGCTGCACTT
CAACCAGTGTTTAACTGCTGAAGAGATCTTTTCCCTTCATGGCTTTTCAAATGCTACCCAAATA
ACCAGCTCCAAATTCTCTGTCATCTGTCCAGCAGTCTTACAGCAATTGAACTTTCACCCATGTG
AGGATCGGCCCAAGCACAAAACAAGACCAAGTCATTCAGAAGTTTGGGGATATGGATTCCTGTC
AGTGACGATTATTAATCTGGCATCTCTCCTCGGATTGATTTTGACTCCACTGATAAAGAAATCT
TATTTCCCAAAGATTTTGACCTTTTTTGTGGGGCTGGCTATTGGGACTCTTTTTTCAAATGCAA
TTTTCCAACTTATTCCAGAGGCATTTGGATTTGATCCCAAAGTCGACAGTTATGTTGAGAAGGC
AGTTGCTGTGTTTGGTGGATTTTACCTACTTTTCTTTTTTGAAAGAATGCTAAAGATGTTATTA
AAGACATATGGTCAGAATGGTCATACCCACTTTGGAAATGATAACTTTGGTCCTCAAGAAAAAA
CTCATCAACCTAAAGCATTACCTGCCATCAATGGTGTGACATGCTATGCAAATCCTGCTGTCAC
AGAAGCTAATGGACATATCCATTTTGATAATGTCAGTGTGGTATCTCTACAGGATGGAAAAAAA
GAGCCAAGTTCATGTACCTGTTTGAAGGGGCCCAAACTGTCAGAAATAGGGACGATTGCCTGGA
TGATAACGCTCTGCGATGCCCTCCACAATTTCATCGATGGCCTGGCGATTGGGGCTTCCTGCAC
CTTGTCTCTCCTTCAGGGACTCAGTACTTCCATAGCAATCCTATGTGAGGAGTTTCCCCACGAG
TTAGGAGACTTTGTGATCCTACTCAATGCAGGGATGAGCACTCGACAAGCCTTGCTATTCAACT
TCCTTTCTGCATGTTCCTGCTATGTTGGGCTAGCTTTTGGCATTTTGGTGGGCAACAATTTCGC
TCCAAATATTATATTTGCACTTGCTGGAGGCATGTTCCTCTATATTTCTCTGGCAGATATGTTT
CCAGAGATGAATGATATGCTGAGAGAAAAGATAATCAAATGGGCTACTGATGACATCAAATCTC
AACTTCATTTACTTTGGATATATACGGCAAGGTAGTAATTTCATTATCTGGAGTATTTCACCTC
CACATCTCTGCAATACCAGCACCTTCAACAGTGATTGGTTAGAGGTTGGCATATGACATAGTTA
TGACCATTGAGACGTGATGCTGTGTGTGCTGTGAAGTTTCTCAAAAGGAGTAAGGAAGATACAG
CCTCTTCTTTCTAGGGACTTTGTTTGTAGGTGTGACACCTGGAGCAGCCATTTTGCTACTGTTT
TGTTTCTAATTGTGTTCCCCGCCGCCCTCCCCGCTCGCCCCGAAAAACGACATGTTTGAGTTCT
AATCCCCAGTATTTCAGAATGTGACCTTATTTGGAAATAGAGTCATTGCAAATGTAATTTGTTA
AGATGAGCTCATACTGGAGTAGAGTGGGTTCCTGATCTAGTATGACTGGTATTCTTATTAAAAA
GAGAAATTTGAATACTAGCTACACCATGTAAAGATGAAGGCAGAGATCGTGGTGATGCATCTAC
AATGTCAACAATTGCCAGCAAATCATCAGAATCTGGGAGAGAGGTATGGAATGAATTCTCTCTC
GCAGCCCTAAGAAGGAACCAATCCTGTGCACACCTGAATCTTGGACTTCCAGCCTCCACAACTG
TGAGACAATACATTTTTGTTATTTAAGCTACCCAGTTGTGGCACTTTATTACTGCAGTTCTAGC
CGACTAATACAGCTACCTTGAGAGGAAATAGCATGGGGATGAAGGTGATGTGCTGAAGAAGCAC
AGCAGAAAGTGGAAAGATGGTCCATGAGGACATCCTTAGCCACTGAATTGACAAGCCTCTTCCC
TGGAGTCCCTCTTCCTTGGGATTTTTTTTGGTGTGTGTAATAATCACTTTTCCTAATGGTGCAA
ACCATTGTGAGTTGCTCTTTGACTGCTAGTAATTAAAGCAAACTAACCAAGTCAGCCCTCCCCA
GTGTTCCTTTTTGCAATCTAAATTCTGATGTCCAACTCCTCCCTGGGCCACTCCCTGTCCCCAG
ATGTCTCTTTGTATATCTAAAGAAGAAAAAGAAGGATAAATCCTTTTTCTCCCAAGAGATCTCC
CTGCTTTTGTGAAAAGCACAAAGAAGGGCATTATCTAACTTTTCTCATCATTAGAAGTCAAGCC
TGGCCGTGACTCCCGTTATGACATTTTGATGGCCACATTTTATGAGAAAAGCCCAAACAGACAG
ACCTGTCTGTAAATTCTTTCATCCTTTGCATTCTTTCTTTGACTGTACCTTAGAGAGTGTTTGA
TTATTGCAGGGGAGATGGAAAAGAAGCAGGTTCTGGCCTATGCTCTAGTTCCTCACTTTCTGGA
GTTATCTTTTGGGCCTGGAGTCTCTTGGAGTGAGGAAAGGAAGCCATTTTTATACTTTACTTAT
GGTAGAGTTAAACTTCGTACTCTTAGGAGGCTACATGCAATCTCCAAGAGGAAGAGAGTGAAGA
GGTTAAGAATTATGCCATCAAAATGTGCTGCTCTGGCATATTGACTATTTGAATTACAGATATT
TTAAAAACATCAGATATGAAGAGGTCACTCTGATCTTAATTCTGTGTCTTAACAGCAGGAGATG
AAATTCCCACATGGGAGATGGCCTCCCTGTCACAGAAGGAATACCATTCTCCCTATCAATGATG
AGAAATTGGAACTGAGAGAATTCTGTATAGACCTTGTTCAAGTAATTCTTCTATTTTAAACCTC
CCCACATAATTTAGCTGCCTTTTCAAAACTACTGTCCTTTGTGCAACCAGTATAGAAGCGATTG
ACTCTCACTGCATCCTTGGGTCTTCTTTTCCCTATATGGGCTCTTTTCCCATATGGGCTCTTAT
GTCCTGTAAAACATGTATTAAATAAATTTGTATGCTTTTCTCCCGTTAACCTGTCTTACATCAA
TTTAATTCTTGGGCCCAGGTAGGACCCTAAGAGGACAGAGGTCGAGTTTTGCCACCTCTGCAAG
AGAAAAGAGAGATGCCCAGACCACCAGGCCTGGGAAATCTTTGATTTCCCAGGCTTTGAAGTGG
GCACTGTGTCTGAACCTGGCCCTCTGAAACTTCCTGTTCCTGGACATCCCAGCTGCTAATGTGA
GTTGCCCTTGCACTGGCTCAGGGCTGGGACATTAAAGGAATTTCCCTTTTGTTGACATAACAGT
AGGATGGCTATAGCTAACAATAATATATTATTTAGTTTCAAGTAGCTAGAAGGAACATATGAAT
GTTCCCAACACAAAGAAATGACAACTATTTGAGATGATGGATATGCTAATAACCTTAATCTGAT
TCCTATACATTATATGCATCACATATACATACATTATATGTATAACATCACTATGTACCCCATA
AATATGTGCAATTATTGTCAATTAAACAAATAAATTTAAACAAACATTAAAAAAAAAAAAAAAA
AA

hide sequence

RefSeq Acc Id:

NM_001135148 ⟹ NP_001128620

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	102,261,666 - 102,324,312 (-)	NCBI
GRCh37	4	103,172,198 - 103,266,655 (-)	RGD
Celera	4	100,470,678 - 100,565,146 (-)	RGD
HuRef	4	98,909,550 - 99,003,934 (-)	RGD
CHM1_1	4	103,159,336 - 103,221,839 (-)	NCBI
T2T-CHM13v2.0	4	105,575,877 - 105,638,528 (-)	NCBI

Sequence:

show sequence

AGCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCATGCACCAACACGCTCAGT
GTTTAACTGCTGAAGAGATCTTTTCCCTTCATGGCTTTTCAAATGCTACCCAAATAACCAGCTC
CAAATTCTCTGTCATCTGTCCAGCAGTCTTACAGCAATTGAACTTTCACCCATGTGAGGATCGG
CCCAAGCACAAAACAAGACCAAGTCATTCAGAAGTTTGGGGATATGGATTCCTGTCAGTGACGA
TTATTAATCTGGCATCTCTCCTCGGATTGATTTTGACTCCACTGATAAAGAAATCTTATTTCCC
AAAGATTTTGACCTTTTTTGTGGGGCTGGCTATTGGGACTCTTTTTTCAAATGCAATTTTCCAA
CTTATTCCAGAGGCATTTGGATTTGATCCCAAAGTCGACAGTTATGTTGAGAAGGCAGTTGCTG
TGTTTGGTGGATTTTACCTACTTTTCTTTTTTGAAAGAATGCTAAAGATGTTATTAAAGACATA
TGGTCAGAATGGTCATACCCACTTTGGAAATGATAACTTTGGTCCTCAAGAAAAAACTCATCAA
CCTAAAGCATTACCTGCCATCAATGGTGTGACATGCTATGCAAATCCTGCTGTCACAGAAGCTA
ATGGACATATCCATTTTGATAATGTCAGTGTGGTATCTCTACAGGATGGAAAAAAAGAGCCAAG
TTCATGTACCTGTTTGAAGGGGCCCAAACTGTCAGAAATAGGGACGATTGCCTGGATGATAACG
CTCTGCGATGCCCTCCACAATTTCATCGATGGCCTGGCGATTGGGGCTTCCTGCACCTTGTCTC
TCCTTCAGGGACTCAGTACTTCCATAGCAATCCTATGTGAGGAGTTTCCCCACGAGTTAGGAGA
CTTTGTGATCCTACTCAATGCAGGGATGAGCACTCGACAAGCCTTGCTATTCAACTTCCTTTCT
GCATGTTCCTGCTATGTTGGGCTAGCTTTTGGCATTTTGGTGGGCAACAATTTCGCTCCAAATA
TTATATTTGCACTTGCTGGAGGCATGTTCCTCTATATTTCTCTGGCAGATATGTTTCCAGAGAT
GAATGATATGCTGAGAGAAAAGGTAACTGGAAGAAAAACCGATTTCACCTTCTTCATGATTCAG
AATGCTGGAATGTTAACTGGATTCACAGCCATTCTACTCATTACCTTGTATGCAGGAGAAATCG
AATTGGAGTAATAGAAAATGGAAGATGGTGTTGTTAATAAAGGCATTTAATAGATAAAAACATC
TCCAAAAAGGATTTTGAAGCTGATCCTATTTAGTTAAAAAGATAATTTTGCTTTCAACTGTAGG
TCCAGAAAACTAATTATTGGCATCAGTCTGTGAAATAGTCCATTATTTGTTGTTAAAAATGCTT
CAAAAGGTTTTCAGTGTCAGTCTGAGATGCCTGGTATATAGGAGCCTTTGGGAAATACCTATTT
TTCAGTATTCCATGCATATTAGATATCACCATGAAGCAAGAGACATGCATTCTATAATCATGTA
GACACTCAGACTCAGGGGAAAATACAAGTTATATCCTGAAAGCCTTTAAAACTCTATGGTAGGA
TCAAAGATTCAAATGGTTTCAGAGAGGTTTTATTTCAATTAATTTGTTCTAGTGCTTTCAAGAG
CAAGTACATCAAAATGTAGAAGGTAAAATGTATGCAACACTAATATAAATTATTCCAAGTCTTT
AAGGAGCCAAAGAAAAAAAAGATTTCTCACAGCTTTTTGTTCTGTTTTGTATTTCAATTAGGAA
CTTGCAGTATTATTTTGAAAACCATTCTAAAATAATAGGAGTTAGGAAATAAATAAAGTTTTGC
TAGCCCTGCTAAGTTCAGGCTTAGAGGCTTATCGCTAAGTATAAACTTCACCAGATTCCACGAA
AAGCTGGATAGCTTTTTTTCTGACTTATGTTGTGGTTGCACCCCTCACAAATGGCAGAACAGTA
TGTAAAGCTGGTAACACCTCGGTTTCAGTGCACCATGTGTTTGCTTTGTGAAGGTGAAGAATAT
GTTGGTTTAGAGAAAGAAATTGGATGTAATTTTATGCAATTTACTTTTAAAGACAAACATAACT
ATTTAGCAGAGAATATTTTAATAAATGCAAAACAACAGCTGGACTGCTGTACATCAAGGACAGA
TTAACTGGAAAACATATGTTCCTTATGTGTGATCGAGAGCCATTCAGAAAAGACTTCCTTTGTG
TTCAGCCTATACTTTTCCATATGGTATACCTTGAAAAAAATTAGCACACCATGGTTATTTTTCT
ACCTTTTATAAAAGACAGAGCCTGTTTACTCATTTAGAAGATAGAGAAAATTGGTCTAAAATTG
AACATCCTAGATTCACACTCCCAAGTCACTTAAGGTGATTTGATGGTGAGGAAAATGATTGACA
AAGCCCAACAATGATCTCAGGAATTACATTTTCCAACAGACCAAAAAATGTTTTCATGTAGCAG
CAATGCAGATTTGGTGAATATTTAATATATATTTTAGTATGTATTTCACTTTATGACTGACAAT
TAAAAAATATTGTTTGGCCAAATAGTAAACACCCTTTTGAAACCA

hide sequence

RefSeq Acc Id:

NM_022154 ⟹ NP_071437

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	102,261,664 - 102,345,191 (-)	NCBI
GRCh37	4	103,172,198 - 103,266,655 (-)	RGD
Build 36	4	103,401,844 - 103,485,371 (-)	NCBI Archive
Celera	4	100,470,678 - 100,565,146 (-)	RGD
HuRef	4	98,909,550 - 99,003,934 (-)	RGD
CHM1_1	4	103,159,336 - 103,242,718 (-)	NCBI
T2T-CHM13v2.0	4	105,575,875 - 105,659,410 (-)	NCBI

Sequence:

show sequence

GGCGGAGAGAATAAAGCAGAAAGACAGGAAGAGGAGGTGGAGTTCTACAGTTAGTGTGGTTTTA
GTTTTTCCTAAGAAGTGGCGTGGTTTGGGGCTTTATATCCGGGAGGAGCATATGTACGCAAATC
CTGGGGCGTTTGCAAACCCGGATCCGGGGCGTCTGGCCCCATGCCCGGCCGGGCGTTTGAGGGC
TACTGCCACGCAGCGTTTCTGGAGCCTGCCGGCTGGTGCCCTGGTGGCCTTTATCTCTGTCCCC
CTTTGTCCTCTTTATCTCAGGCTCTCCAGGAGGCCGGGGGGCCCACTCCGCCTATCGCTCCCCT
CGGCTACGCTGCCACTTCAATGCCCCGCAGGTCGCGAGCTGCTGTTCTTTCGAAGGCGTCGGAG
AACCAGGGGCGTCCCGCGCCACCTCTGACTCGGAGCAGCGCCGAGCACTGACGCTCCCGCCCTT
GGGCAAGGACGCCAGTGCGCCCGCGCGCGTCCCTCTGCGCGGCAGCCCGTCGCGGGCCCTCAAG
GGGAAGCCCAGGCCAGGATGGCCCCGGGTCGCGCGGTGGCCGGGCTCCTGTTGCTGGCGGCCGC
CGGCCTCGGAGGAGTGGCGGAGGGGCCAGGGCTAGCCTTCAGCGAGGATGTGCTGAGCGTGTTC
GGCGCGAATCTGAGCCTGTCGGCGGCGCAGCTCCAGCACTTGCTGGAGCAGATGGGAGCCGCCT
CCCGCGTGGGCGTCCCGGAGCCTGGCCAGCTGCACTTCAACCAGTGTTTAACTGCTGAAGAGAT
CTTTTCCCTTCATGGCTTTTCAAATGCTACCCAAATAACCAGCTCCAAATTCTCTGTCATCTGT
CCAGCAGTCTTACAGCAATTGAACTTTCACCCATGTGAGGATCGGCCCAAGCACAAAACAAGAC
CAAGTCATTCAGAAGTTTGGGGATATGGATTCCTGTCAGTGACGATTATTAATCTGGCATCTCT
CCTCGGATTGATTTTGACTCCACTGATAAAGAAATCTTATTTCCCAAAGATTTTGACCTTTTTT
GTGGGGCTGGCTATTGGGACTCTTTTTTCAAATGCAATTTTCCAACTTATTCCAGAGGCATTTG
GATTTGATCCCAAAGTCGACAGTTATGTTGAGAAGGCAGTTGCTGTGTTTGGTGGATTTTACCT
ACTTTTCTTTTTTGAAAGAATGCTAAAGATGTTATTAAAGACATATGGTCAGAATGGTCATACC
CACTTTGGAAATGATAACTTTGGTCCTCAAGAAAAAACTCATCAACCTAAAGCATTACCTGCCA
TCAATGGTGTGACATGCTATGCAAATCCTGCTGTCACAGAAGCTAATGGACATATCCATTTTGA
TAATGTCAGTGTGGTATCTCTACAGGATGGAAAAAAAGAGCCAAGTTCATGTACCTGTTTGAAG
GGGCCCAAACTGTCAGAAATAGGGACGATTGCCTGGATGATAACGCTCTGCGATGCCCTCCACA
ATTTCATCGATGGCCTGGCGATTGGGGCTTCCTGCACCTTGTCTCTCCTTCAGGGACTCAGTAC
TTCCATAGCAATCCTATGTGAGGAGTTTCCCCACGAGTTAGGAGACTTTGTGATCCTACTCAAT
GCAGGGATGAGCACTCGACAAGCCTTGCTATTCAACTTCCTTTCTGCATGTTCCTGCTATGTTG
GGCTAGCTTTTGGCATTTTGGTGGGCAACAATTTCGCTCCAAATATTATATTTGCACTTGCTGG
AGGCATGTTCCTCTATATTTCTCTGGCAGATATGTTTCCAGAGATGAATGATATGCTGAGAGAA
AAGGTAACTGGAAGAAAAACCGATTTCACCTTCTTCATGATTCAGAATGCTGGAATGTTAACTG
GATTCACAGCCATTCTACTCATTACCTTGTATGCAGGAGAAATCGAATTGGAGTAATAGAAAAT
GGAAGATGGTGTTGTTAATAAAGGCATTTAATAGATAAAAACATCTCCAAAAAGGATTTTGAAG
CTGATCCTATTTAGTTAAAAAGATAATTTTGCTTTCAACTGTAGGTCCAGAAAACTAATTATTG
GCATCAGTCTGTGAAATAGTCCATTATTTGTTGTTAAAAATGCTTCAAAAGGTTTTCAGTGTCA
GTCTGAGATGCCTGGTATATAGGAGCCTTTGGGAAATACCTATTTTTCAGTATTCCATGCATAT
TAGATATCACCATGAAGCAAGAGACATGCATTCTATAATCATGTAGACACTCAGACTCAGGGGA
AAATACAAGTTATATCCTGAAAGCCTTTAAAACTCTATGGTAGGATCAAAGATTCAAATGGTTT
CAGAGAGGTTTTATTTCAATTAATTTGTTCTAGTGCTTTCAAGAGCAAGTACATCAAAATGTAG
AAGGTAAAATGTATGCAACACTAATATAAATTATTCCAAGTCTTTAAGGAGCCAAAGAAAAAAA
AGATTTCTCACAGCTTTTTGTTCTGTTTTGTATTTCAATTAGGAACTTGCAGTATTATTTTGAA
AACCATTCTAAAATAATAGGAGTTAGGAAATAAATAAAGTTTTGCTAGCCCTGCTAAGTTCAGG
CTTAGAGGCTTATCGCTAAGTATAAACTTCACCAGATTCCACGAAAAGCTGGATAGCTTTTTTT
CTGACTTATGTTGTGGTTGCACCCCTCACAAATGGCAGAACAGTATGTAAAGCTGGTAACACCT
CGGTTTCAGTGCACCATGTGTTTGCTTTGTGAAGGTGAAGAATATGTTGGTTTAGAGAAAGAAA
TTGGATGTAATTTTATGCAATTTACTTTTAAAGACAAACATAACTATTTAGCAGAGAATATTTT
AATAAATGCAAAACAACAGCTGGACTGCTGTACATCAAGGACAGATTAACTGGAAAACATATGT
TCCTTATGTGTGATCGAGAGCCATTCAGAAAAGACTTCCTTTGTGTTCAGCCTATACTTTTCCA
TATGGTATACCTTGAAAAAAATTAGCACACCATGGTTATTTTTCTACCTTTTATAAAAGACAGA
GCCTGTTTACTCATTTAGAAGATAGAGAAAATTGGTCTAAAATTGAACATCCTAGATTCACACT
CCCAAGTCACTTAAGGTGATTTGATGGTGAGGAAAATGATTGACAAAGCCCAACAATGATCTCA
GGAATTACATTTTCCAACAGACCAAAAAATGTTTTCATGTAGCAGCAATGCAGATTTGGTGAAT
ATTTAATATATATTTTAGTATGTATTTCACTTTATGACTGACAATTAAAAAATATTGTTTGGCC
AAATAGTAAACACCCTTTTGAAACCATGAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

XM_017008541 ⟹ XP_016864030

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	102,261,664 - 102,344,915 (-)	NCBI

Sequence:

show sequence

ACTTCTAAGTTTGCGGCGGAGAGAATAAAGCAGAAAGACAGGAAGAGGAGGTGGAGTTCTACAG
CTCTCCAGGAGGCCGGGGGGCCCACTCCGCCTATCGCTCCCCTCGGCTACGCTGCCACTTCAAT
GCCCCGCAGGTCGCGAGCTGCTGTTCTTTCGAAGGCGTCGGAGAACCAGGGGCGTCCCGCGCCA
CCTCTGACTCGGAGCAGCGCCGAGCACTGACGCTCCCGCCCTTGGGCAAGGACGCCAGTGCGCC
CGCGCGCGTCCCTCTGCGCGGCAGCCCGTCGCGGGCCCTCAAGGGGAAGCCCAGGCCAGGATGG
CCCCGGGTCGCGCGGTGGCCGGGCTCCTGTTGCTGGCGGCCGCCGGCCTCGGAGGAGTGGCGGA
GGGGCCAGGGCTAGCCTTCAGCGAGGATGTGCTGAGCGTGTTCGGCGCGAATCTGAGCCTGTCG
GCGGCGCAGCTCCAGCACTTGCTGGAGCAGATGGGAGCCGCCTCCCGCGTGGGCGTCCCGGAGC
CTGGCCAGCTGCACTTCAACCAGGAAGAACAAATCTGGAAGCAATTTCCTCAGTCACTCGTGCT
TTGAATGTTCCTGCTGTGAGTGTGGAACATCATTTTTGGAGCCAACTGCAAAAATGGTTTAAGT
TCATAGCTGCAAACTAAACAAAATTATGAAAAAGCAAAAGAAATGAAGTGCAGAAAGCGAAGTA
TACCTAAAATTCTCACTCTGGTGAGAAAAGTTGGCTGATGTTTGAACTGTAGGATTTTTTTTTT
TCTTTCTTGAGCCGGAGTCTTGGTTTGTCACCAGGCTGGAGTGTAGTGGCACTATCTCGGCTCA
CTGCAGCCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATT
ACAGGCATGCACCAACACGCTCAGTGTTTAACTGCTGAAGAGATCTTTTCCCTTCATGGCTTTT
CAAATGCTACCCAAATAACCAGCTCCAAATTCTCTGTCATCTGTCCAGCAGTCTTACAGCAATT
GAACTTTCACCCATGTGAGGATCGGCCCAAGCACAAAACAAGACCAAGTCATTCAGAAGTTTGG
GGATATGGATTCCTGTCAGTGACGATTATTAATCTGGCATCTCTCCTCGGATTGATTTTGACTC
CACTGATAAAGAAATCTTATTTCCCAAAGATTTTGACCTTTTTTGTGGGGCTGGCTATTGGGAC
TCTTTTTTCAAATGCAATTTTCCAACTTATTCCAGAGGCATTTGGATTTGATCCCAAAGTCGAC
AGTTATGTTGAGAAGGCAGTTGCTGTGTTTGGTGGATTTTACCTACTTTTCTTTTTTGAAAGAA
TGCTAAAGATGTTATTAAAGACATATGGTCAGAATGGTCATACCCACTTTGGAAATGATAACTT
TGGTCCTCAAGAAAAAACTCATCAACCTAAAGCATTACCTGCCATCAATGGTGTGACATGCTAT
GCAAATCCTGCTGTCACAGAAGCTAATGGACATATCCATTTTGATAATGTCAGTGTGGTATCTC
TACAGGATGGAAAAAAAGAGCCAAGTTCATGTACCTGTTTGAAGGGGCCCAAACTGTCAGAAAT
AGGGACGATTGCCTGGATGATAACGCTCTGCGATGCCCTCCACAATTTCATCGATGGCCTGGCG
ATTGGGGCTTCCTGCACCTTGTCTCTCCTTCAGGGACTCAGTACTTCCATAGCAATCCTATGTG
AGGAGTTTCCCCACGAGTTAGGAGACTTTGTGATCCTACTCAATGCAGGGATGAGCACTCGACA
AGCCTTGCTATTCAACTTCCTTTCTGCATGTTCCTGCTATGTTGGGCTAGCTTTTGGCATTTTG
GTGGGCAACAATTTCGCTCCAAATATTATATTTGCACTTGCTGGAGGCATGTTCCTCTATATTT
CTCTGGCAGATATGTTTCCAGAGATGAATGATATGCTGAGAGAAAAGGTAACTGGAAGAAAAAC
CGATTTCACCTTCTTCATGATTCAGAATGCTGGAATGTTAACTGGATTCACAGCCATTCTACTC
ATTACCTTGTATGCAGGAGAAATCGAATTGGAGTAATAGAAAATGGAAGATGGTGTTGTTAATA
AAGGCATTTAATAGATAAAAACATCTCCAAAAAGGATTTTGAAGCTGATCCTATTTAGTTAAAA
AGATAATTTTGCTTTCAACTGTAGGTCCAGAAAACTAATTATTGGCATCAGTCTGTGAAATAGT
CCATTATTTGTTGTTAAAAATGCTTCAAAAGGTTTTCAGTGTCAGTCTGAGATGCCTGGTATAT
AGGAGCCTTTGGGAAATACCTATTTTTCAGTATTCCATGCATATTAGATATCACCATGAAGCAA
GAGACATGCATTCTATAATCATGTAGACACTCAGACTCAGGGGAAAATACAAGTTATATCCTGA
AAGCCTTTAAAACTCTATGGTAGGATCAAAGATTCAAATGGTTTCAGAGAGGTTTTATTTCAAT
TAATTTGTTCTAGTGCTTTCAAGAGCAAGTACATCAAAATGTAGAAGGTAAAATGTATGCAACA
CTAATATAAATTATTCCAAGTCTTTAAGGAGCCAAAGAAAAAAAAGATTTCTCACAGCTTTTTG
TTCTGTTTTGTATTTCAATTAGGAACTTGCAGTATTATTTTGAAAACCATTCTAAAATAATAGG
AGTTAGGAAATAAATAAAGTTTTGCTAGCCCTGCTAAGTTCAGGCTTAGAGGCTTATCGCTAAG
TATAAACTTCACCAGATTCCACGAAAAGCTGGATAGCTTTTTTTCTGACTTATGTTGTGGTTGC
ACCCCTCACAAATGGCAGAACAGTATGTAAAGCTGGTAACACCTCGGTTTCAGTGCACCATGTG
TTTGCTTTGTGAAGGTGAAGAATATGTTGGTTTAGAGAAAGAAATTGGATGTAATTTTATGCAA
TTTACTTTTAAAGACAAACATAACTATTTAGCAGAGAATATTTTAATAAATGCAAAACAACAGC
TGGACTGCTGTACATCAAGGACAGATTAACTGGAAAACATATGTTCCTTATGTGTGATCGAGAG
CCATTCAGAAAAGACTTCCTTTGTGTTCAGCCTATACTTTTCCATATGGTATACCTTGAAAAAA
ATTAGCACACCATGGTTATTTTTCTACCTTTTATAAAAGACAGAGCCTGTTTACTCATTTAGAA
GATAGAGAAAATTGGTCTAAAATTGAACATCCTAGATTCACACTCCCAAGTCACTTAAGGTGAT
TTGATGGTGAGGAAAATGATTGACAAAGCCCAACAATGATCTCAGGAATTACATTTTCCAACAG
ACCAAAAAATGTTTTCATGTAGCAGCAATGCAGATTTGGTGAATATTTAATATATATTTTAGTA
TGTATTTCACTTTATGACTGACAATTAAAAAATATTGTTTGGCCAAATAGTAAACACCCTTTTG
AAACCA

hide sequence

RefSeq Acc Id:

XM_024454183 ⟹ XP_024309951

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	102,300,950 - 102,345,482 (-)	NCBI

Sequence:

show sequence

AGGATGGCCCCGGGTCGCGCGGTGGCCGGGCTCCTGTTGCTGGCGGCCGCCGGCCTCGGAGGAG
TGGCGGAGGGGCCAGGGCTAGCCTTCAGCGAGGATGTGCTGAGCGTGTTCGGCGCGAATCTGAG
CCTGTCGGCGGCGCAGCTCCAGCACTTGCTGGAGCAGATGGGAGCCGCCTCCCGCGTGGGCGTC
CCGGAGCCTGGCCAGCTGCACTTCAACCAGTGTTTAACTGCTGAAGAGATCTTTTCCCTTCATG
GCTTTTCAAATGCTACCCAAATAACCAGCTCCAAATTCTCTGTCATCTGTCCAGCAGTCTTACA
GCAATTGAACTTTCACCCATGTGAGGATCGGCCCAAGCACAAAACAAGACCAAGTCATTCAGAA
GTTTGGGGATATGGATTCCTGTCAGTGACGATTATTAATCTGGCATCTCTCCTCGGATTGATTT
TGACTCCACTGATAAAGAAATCTTATTTCCCAAAGATTTTGACCTTTTTTGTGGGGCTGGCTAT
TGGGACTCTTTTTTCAAATGCAATTTTCCAACTTATTCCAGAGGCATTTGGATTTGATCCCAAA
GTCGACAGTTATGTTGAGAAGGCAGTTGCTGTGTTTGGTGGATTTTACCTACTTTTCTTTTTTG
AAAGAATGCTAAAGATGTTATTAAAGACATATGGTCAGAATGGTCATACCCACTTTGGAAATGA
TAACTTTGGTCCTCAAGAAAAAACTCATCAACCTAAAGCATTACCTGCCATCAATGGTGTGACA
TGCTATGCAAATCCTGCTGTCACAGAAGCTAATGGACATATCCATTTTGATAATGTCAGTGTGG
TATCTCTACAGGCACTGGAAATTCAGAAGCAAATTCTTGAGGAGCTTACAGTTTATTCAATGGA
AACATAAAATATAGAAATGAGCAAAACAAGAAAATATCATATAGTAATAACCTACCTTGATGAA
ACTAAAGCATGGTGATGTGAGAGTGATGTGTGGGAGCTTCTTTTGATTGACTGTTCAGAAAAGG
TCCCTCAAGGTGTCAGTAGGGAATTGTATAATGAGAAAGAACCAGTCATGCAAATATCGGGGAA
GAAAATATGCTAAAGACTTTGAGAATAATCAAACAGGTCACACACAAGGGACCTGGAAGCTGAA
TGGTAGTGGACTTCCCCACATCAATGCTGGAGAGCAGTGGCACAATTCCTTCAATATTCTGAAT
GAAAACAACTGTGGAATTATAAACCTAGGTAAACTACCTATCTAGTGAGAGGGAATAATGGAAC
TAAGATTCTGGAAATACACTTCCAGGAATAAGAAGGCAGCTGAAGAAAGAAGAGAAGGTGCGTG
CCAGGGTGACAGCCCTGCACCAGGCCTTGAGATAATAGTTTTGACGTTAATTTCTTATGGGGAC
TATTTTCTCGCTATTTTGGTTGAAGGTATAGTCTCAAATAAATAGACATTTAAACAAATTGA

hide sequence

RefSeq Acc Id:

XM_024454184 ⟹ XP_024309952

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	102,257,358 - 102,345,482 (-)	NCBI

Sequence:

show sequence

AGGATGGCCCCGGGTCGCGCGGTGGCCGGGCTCCTGTTGCTGGCGGCCGCCGGCCTCGGAGGAG
TGGCGGAGGGGCCAGGGCTAGCCTTCAGCGAGGATGTGCTGAGCGTGTTCGGCGCGAATCTGAG
CCTGTCGGCGGCGCAGCTCCAGCACTTGCTGGAGCAGATGGGAGCCGCCTCCCGCGTGGGCGTC
CCGGAGCCTGGCCAGCTGCACTTCAACCAGTGTTTAACTGCTGAAGAGATCTTTTCCCTTCATG
GCTTTTCAAATGCTACCCAAATAACCAGCTCCAAATTCTCTGTCATCTGTCCAGCAGTCTTACA
GCAATTGAACTTTCACCCATGTGAGGATCGGCCCAAGCACAAAACAAGACCAAGTCATTCAGAA
GTTTGGGGATATGGATTCCTGTCAGTGACGATTATTAATCTGGCATCTCTCCTCGGATTGATTT
TGACTCCACTGATAAAGAAATCTTATTTCCCAAAGATTTTGACCTTTTTTGTGGGGCTGGCTAT
TGGGACTCTTTTTTCAAATGCAATTTTCCAACTTATTCCAGAGGCATTTGGATTTGATCCCAAA
GTCGACAGTTATGTTGAGAAGGCAGTTGCTGTGTTTGGTGGATTTTACCTACTTTTCTTTTTTG
AAAGAATGCTAAAGATGTTATTAAAGACATATGGTCAGAATGGTCATACCCACTTTGGAAATGA
TAACTTTGGTCCTCAAGAAAAAACTCATCAACCTAAAGCATTACCTGCCATCAATGGTGTGACA
TGCTATGCAAATCCTGCTGTCACAGAAGCTAATGGACATATCCATTTTGATAATGTCAGTGTGG
TATCTCTACAGGATGGAAAAAAAGAGCCAAGTTCATGTACCTGTTTGAAGGGGCCCAAACTGTC
AGAAATAGGGACGATTGCCTGGATGATAACGCTCTGCGATGCCCTCCACAATTTCATCGATGGC
CTGGCGATTGGGGCTTCCTGCACCTTGTCTCTCCTTCAGGGACTCAGTACTTCCATAGCAATCC
TATGTGAGGAGTTTCCCCACGAGTTAGGAGACTTTGTGATCCTACTCAATGCAGGGATGAGCAC
TCGACAAGCCTTGCTATTCAACTTCCTTTCTGCATGTTCCTGCTATGTTGGGCTAGCTTTTGGC
ATTTTGGTGGGCAACAATTTCGCTCCAAATATTATATTTGCACTTGCTGGAGGCATGTTCCTCT
ATATTTCTCTGGCAGATATGTTTCCAGAGATGAATGATATGCTGAGAGAAAAGATAATCAAATG
GGCTACTGATGACATCAAATCTCAACTTCATTTACTTTGGATATATACGAGACTGACCCACATG
GACCTCAGTGGGTATAGCCAAATGGAGAACTTCGACAAGAGACTGGAGGAAGTGAAGAGAGGAA
GGATAGAGTATCAATTTCCTTGACTATCCTCCTACTGGGTATCCTTGGGCTGCCTGTTTTGCCC
AAGAAGGCCTTCTCTACAGAAAAGCTTCTTACAATATCTGTGGCTAAGGCCCAGCTTGTTTTCC
TTATTTCCAATTTATCAATAGCTGGCACTTCTGTAAATA

hide sequence

RefSeq Acc Id:

XM_047416070 ⟹ XP_047272026

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	102,261,664 - 102,345,482 (-)	NCBI

RefSeq Acc Id:

XM_047416071 ⟹ XP_047272027

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	102,261,664 - 102,307,523 (-)	NCBI

RefSeq Acc Id:

XM_054350705 ⟹ XP_054206680

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	105,575,875 - 105,659,701 (-)	NCBI

RefSeq Acc Id:

XM_054350706 ⟹ XP_054206681

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	105,575,875 - 105,659,134 (-)	NCBI

RefSeq Acc Id:

XM_054350707 ⟹ XP_054206682

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	105,615,167 - 105,659,701 (-)	NCBI

RefSeq Acc Id:

XM_054350708 ⟹ XP_054206683

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	105,575,875 - 105,621,740 (-)	NCBI

RefSeq Acc Id:

XM_054350709 ⟹ XP_054206684

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	105,571,569 - 105,659,701 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001128618	(Get FASTA)	NCBI Sequence Viewer
	NP_001128619	(Get FASTA)	NCBI Sequence Viewer
	NP_001128620	(Get FASTA)	NCBI Sequence Viewer
	NP_071437	(Get FASTA)	NCBI Sequence Viewer
	XP_016864030	(Get FASTA)	NCBI Sequence Viewer
	XP_024309951	(Get FASTA)	NCBI Sequence Viewer
	XP_024309952	(Get FASTA)	NCBI Sequence Viewer
	XP_047272026	(Get FASTA)	NCBI Sequence Viewer
	XP_047272027	(Get FASTA)	NCBI Sequence Viewer
	XP_054206680	(Get FASTA)	NCBI Sequence Viewer
	XP_054206681	(Get FASTA)	NCBI Sequence Viewer
	XP_054206682	(Get FASTA)	NCBI Sequence Viewer
	XP_054206683	(Get FASTA)	NCBI Sequence Viewer
	XP_054206684	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAG22480	(Get FASTA)	NCBI Sequence Viewer
	AAH01320	(Get FASTA)	NCBI Sequence Viewer
	AAH12125	(Get FASTA)	NCBI Sequence Viewer
	BAA96442	(Get FASTA)	NCBI Sequence Viewer
	BAB21559	(Get FASTA)	NCBI Sequence Viewer
	BAB55268	(Get FASTA)	NCBI Sequence Viewer
	BAG65135	(Get FASTA)	NCBI Sequence Viewer
	EAX06129	(Get FASTA)	NCBI Sequence Viewer
	EAX06130	(Get FASTA)	NCBI Sequence Viewer
	EAX06131	(Get FASTA)	NCBI Sequence Viewer
	EAX06132	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000349174
	ENSP00000349174.4
	ENSP00000378310
	ENSP00000378310.2
	ENSP00000394548.3
	ENSP00000506745.1
	ENSP00000506748.1
	ENSP00000507087.1
	ENSP00000507170.1
	ENSP00000507414.1
	ENSP00000507483.1
	ENSP00000507538.1
	ENSP00000507611
	ENSP00000507611.1
	ENSP00000507952.1
	ENSP00000508032.1
	ENSP00000508093.1
	ENSP00000508106.1
	ENSP00000508363.1
GenBank Protein	Q9C0K1	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001128619 ⟸ NM_001135147
- Peptide Label:	isoform b precursor
- UniProtKB:	A0A804HKW0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAPGRAVAGLLLLAAAGLGGVAEGPGLAFSEDVLSVFGANLSLSAAQLQHLLEQMGAASRVGVP EPGQLHFNQCLTAEEIFSLHGFSNATQITSSKFSVICPAVLQQLNFHPCEDRPKHKTRPSHSEV WGYGFLSVTIINLASLLGLILTPLIKKSYFPKILTFFVGLAIGTLFSNAIFQLIPEAFGFDPKV DSYVEKAVAVFGGFYLLFFFERMLKMLLKTYGQNGHTHFGNDNFGPQEKTHQPKALPAINGVTC YANPAVTEANGHIHFDNVSVVSLQDGKKEPSSCTCLKGPKLSEIGTIAWMITLCDALHNFIDGL AIGASCTLSLLQGLSTSIAILCEEFPHELGDFVILLNAGMSTRQALLFNFLSACSCYVGLAFGI LVGNNFAPNIIFALAGGMFLYISLADMFPEMNDMLREKIIKWATDDIKSQLHLLWIYTAR hide sequence

RefSeq Acc Id:	NP_001128618 ⟸ NM_001135146
- Peptide Label:	isoform a precursor
- UniProtKB:	Q9BVC0 (UniProtKB/Swiss-Prot), Q96SM9 (UniProtKB/Swiss-Prot), B4E2H3 (UniProtKB/Swiss-Prot), Q9NSA4 (UniProtKB/Swiss-Prot), Q9C0K1 (UniProtKB/Swiss-Prot), A0A804HKW0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAPGRAVAGLLLLAAAGLGGVAEGPGLAFSEDVLSVFGANLSLSAAQLQHLLEQMGAASRVGVP EPGQLHFNQCLTAEEIFSLHGFSNATQITSSKFSVICPAVLQQLNFHPCEDRPKHKTRPSHSEV WGYGFLSVTIINLASLLGLILTPLIKKSYFPKILTFFVGLAIGTLFSNAIFQLIPEAFGFDPKV DSYVEKAVAVFGGFYLLFFFERMLKMLLKTYGQNGHTHFGNDNFGPQEKTHQPKALPAINGVTC YANPAVTEANGHIHFDNVSVVSLQDGKKEPSSCTCLKGPKLSEIGTIAWMITLCDALHNFIDGL AIGASCTLSLLQGLSTSIAILCEEFPHELGDFVILLNAGMSTRQALLFNFLSACSCYVGLAFGI LVGNNFAPNIIFALAGGMFLYISLADMFPEMNDMLREKVTGRKTDFTFFMIQNAGMLTGFTAIL LITLYAGEIELE hide sequence

RefSeq Acc Id:	NP_071437 ⟸ NM_022154
- Peptide Label:	isoform a precursor
- UniProtKB:	Q9BVC0 (UniProtKB/Swiss-Prot), Q96SM9 (UniProtKB/Swiss-Prot), B4E2H3 (UniProtKB/Swiss-Prot), Q9NSA4 (UniProtKB/Swiss-Prot), Q9C0K1 (UniProtKB/Swiss-Prot), A0A804HKW0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAPGRAVAGLLLLAAAGLGGVAEGPGLAFSEDVLSVFGANLSLSAAQLQHLLEQMGAASRVGVP EPGQLHFNQCLTAEEIFSLHGFSNATQITSSKFSVICPAVLQQLNFHPCEDRPKHKTRPSHSEV WGYGFLSVTIINLASLLGLILTPLIKKSYFPKILTFFVGLAIGTLFSNAIFQLIPEAFGFDPKV DSYVEKAVAVFGGFYLLFFFERMLKMLLKTYGQNGHTHFGNDNFGPQEKTHQPKALPAINGVTC YANPAVTEANGHIHFDNVSVVSLQDGKKEPSSCTCLKGPKLSEIGTIAWMITLCDALHNFIDGL AIGASCTLSLLQGLSTSIAILCEEFPHELGDFVILLNAGMSTRQALLFNFLSACSCYVGLAFGI LVGNNFAPNIIFALAGGMFLYISLADMFPEMNDMLREKVTGRKTDFTFFMIQNAGMLTGFTAIL LITLYAGEIELE hide sequence

RefSeq Acc Id:	NP_001128620 ⟸ NM_001135148
- Peptide Label:	isoform c
- UniProtKB:	Q9C0K1 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MHQHAQCLTAEEIFSLHGFSNATQITSSKFSVICPAVLQQLNFHPCEDRPKHKTRPSHSEVWGY GFLSVTIINLASLLGLILTPLIKKSYFPKILTFFVGLAIGTLFSNAIFQLIPEAFGFDPKVDSY VEKAVAVFGGFYLLFFFERMLKMLLKTYGQNGHTHFGNDNFGPQEKTHQPKALPAINGVTCYAN PAVTEANGHIHFDNVSVVSLQDGKKEPSSCTCLKGPKLSEIGTIAWMITLCDALHNFIDGLAIG ASCTLSLLQGLSTSIAILCEEFPHELGDFVILLNAGMSTRQALLFNFLSACSCYVGLAFGILVG NNFAPNIIFALAGGMFLYISLADMFPEMNDMLREKVTGRKTDFTFFMIQNAGMLTGFTAILLIT LYAGEIELE hide sequence

RefSeq Acc Id:	XP_016864030 ⟸ XM_017008541
- Peptide Label:	isoform X2
- UniProtKB:	Q9C0K1 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MHQHAQCLTAEEIFSLHGFSNATQITSSKFSVICPAVLQQLNFHPCEDRPKHKTRPSHSEVWGY GFLSVTIINLASLLGLILTPLIKKSYFPKILTFFVGLAIGTLFSNAIFQLIPEAFGFDPKVDSY VEKAVAVFGGFYLLFFFERMLKMLLKTYGQNGHTHFGNDNFGPQEKTHQPKALPAINGVTCYAN PAVTEANGHIHFDNVSVVSLQDGKKEPSSCTCLKGPKLSEIGTIAWMITLCDALHNFIDGLAIG ASCTLSLLQGLSTSIAILCEEFPHELGDFVILLNAGMSTRQALLFNFLSACSCYVGLAFGILVG NNFAPNIIFALAGGMFLYISLADMFPEMNDMLREKVTGRKTDFTFFMIQNAGMLTGFTAILLIT LYAGEIELE hide sequence

RefSeq Acc Id:	XP_024309952 ⟸ XM_024454184
- Peptide Label:	isoform X5
- UniProtKB:	A0A804HKW0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAPGRAVAGLLLLAAAGLGGVAEGPGLAFSEDVLSVFGANLSLSAAQLQHLLEQMGAASRVGVP EPGQLHFNQCLTAEEIFSLHGFSNATQITSSKFSVICPAVLQQLNFHPCEDRPKHKTRPSHSEV WGYGFLSVTIINLASLLGLILTPLIKKSYFPKILTFFVGLAIGTLFSNAIFQLIPEAFGFDPKV DSYVEKAVAVFGGFYLLFFFERMLKMLLKTYGQNGHTHFGNDNFGPQEKTHQPKALPAINGVTC YANPAVTEANGHIHFDNVSVVSLQDGKKEPSSCTCLKGPKLSEIGTIAWMITLCDALHNFIDGL AIGASCTLSLLQGLSTSIAILCEEFPHELGDFVILLNAGMSTRQALLFNFLSACSCYVGLAFGI LVGNNFAPNIIFALAGGMFLYISLADMFPEMNDMLREKIIKWATDDIKSQLHLLWIYTRLTHMD LSGYSQMENFDKRLEEVKRGRIEYQFP hide sequence

RefSeq Acc Id:	XP_024309951 ⟸ XM_024454183
- Peptide Label:	isoform X3
- UniProtKB:	A0A804HJR0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAPGRAVAGLLLLAAAGLGGVAEGPGLAFSEDVLSVFGANLSLSAAQLQHLLEQMGAASRVGVP EPGQLHFNQCLTAEEIFSLHGFSNATQITSSKFSVICPAVLQQLNFHPCEDRPKHKTRPSHSEV WGYGFLSVTIINLASLLGLILTPLIKKSYFPKILTFFVGLAIGTLFSNAIFQLIPEAFGFDPKV DSYVEKAVAVFGGFYLLFFFERMLKMLLKTYGQNGHTHFGNDNFGPQEKTHQPKALPAINGVTC YANPAVTEANGHIHFDNVSVVSLQALEIQKQILEELTVYSMET hide sequence

Ensembl Acc Id:

ENSP00000394548 ⟸ ENST00000424970

Ensembl Acc Id:

ENSP00000378310 ⟸ ENST00000394833

Ensembl Acc Id:

ENSP00000349174 ⟸ ENST00000356736

Ensembl Acc Id:

ENSP00000507611 ⟸ ENST00000684386

Ensembl Acc Id:

ENSP00000508032 ⟸ ENST00000683173

Ensembl Acc Id:

ENSP00000508093 ⟸ ENST00000683221

Ensembl Acc Id:

ENSP00000506748 ⟸ ENST00000684289

Ensembl Acc Id:

ENSP00000507538 ⟸ ENST00000683412

Ensembl Acc Id:

ENSP00000507414 ⟸ ENST00000682932

Ensembl Acc Id:

ENSP00000507952 ⟸ ENST00000682243

Ensembl Acc Id:

ENSP00000507170 ⟸ ENST00000683462

Ensembl Acc Id:

ENSP00000508363 ⟸ ENST00000682227

Ensembl Acc Id:

ENSP00000507087 ⟸ ENST00000683634

Ensembl Acc Id:

ENSP00000507483 ⟸ ENST00000682549

Ensembl Acc Id:

ENSP00000508106 ⟸ ENST00000683916

Ensembl Acc Id:

ENSP00000506745 ⟸ ENST00000683706

RefSeq Acc Id:	XP_047272026 ⟸ XM_047416070
- Peptide Label:	isoform X1
- UniProtKB:	Q9C0K1 (UniProtKB/Swiss-Prot), Q9BVC0 (UniProtKB/Swiss-Prot), Q96SM9 (UniProtKB/Swiss-Prot), B4E2H3 (UniProtKB/Swiss-Prot), Q9NSA4 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_047272027 ⟸ XM_047416071
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_054206684 ⟸ XM_054350709
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_054206680 ⟸ XM_054350705
- Peptide Label:	isoform X1
- UniProtKB:	Q9C0K1 (UniProtKB/Swiss-Prot), Q9BVC0 (UniProtKB/Swiss-Prot), Q96SM9 (UniProtKB/Swiss-Prot), B4E2H3 (UniProtKB/Swiss-Prot), Q9NSA4 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054206681 ⟸ XM_054350706
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054206683 ⟸ XM_054350708
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_054206682 ⟸ XM_054350707
- Peptide Label:	isoform X3

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9C0K1-F1-model_v2	AlphaFold	Q9C0K1	1-460	view protein structure

Promoters

RGD ID:

6868142

Promoter ID:

EPDNEW_H7236

Type:

initiation region

Name:

SLC39A8_2

Description:

solute carrier family 39 member 8

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H7237 EPDNEW_H7238

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	102,345,023 - 102,345,083	EPDNEW

RGD ID:

6868144

Promoter ID:

EPDNEW_H7237

Type:

initiation region

Name:

SLC39A8_3

Description:

solute carrier family 39 member 8

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H7236 EPDNEW_H7238

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	102,345,205 - 102,345,265	EPDNEW

RGD ID:

6868146

Promoter ID:

EPDNEW_H7238

Type:

initiation region

Name:

SLC39A8_1

Description:

solute carrier family 39 member 8

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H7236 EPDNEW_H7237

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	102,345,482 - 102,345,542	EPDNEW

RGD ID:

6802611

Promoter ID:

HG_KWN:48819

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

NM_001135146, NM_001135147, NM_022154

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	4	103,484,746 - 103,485,797 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:20862	AgrOrtholog
COSMIC	SLC39A8	COSMIC
Ensembl Genes	ENSG00000138821	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000356736	ENTREZGENE
	ENST00000356736.5	UniProtKB/Swiss-Prot
	ENST00000394833	ENTREZGENE
	ENST00000394833.6	UniProtKB/Swiss-Prot
	ENST00000424970.7	UniProtKB/TrEMBL
	ENST00000682227.1	UniProtKB/Swiss-Prot
	ENST00000682243.1	UniProtKB/TrEMBL
	ENST00000682549.1	UniProtKB/TrEMBL
	ENST00000682932.1	UniProtKB/Swiss-Prot
	ENST00000683173.1	UniProtKB/TrEMBL
	ENST00000683221.1	UniProtKB/TrEMBL
	ENST00000683401	ENTREZGENE
	ENST00000683412.1	UniProtKB/Swiss-Prot
	ENST00000683462.1	UniProtKB/TrEMBL
	ENST00000683634.1	UniProtKB/TrEMBL
	ENST00000683706.1	UniProtKB/TrEMBL
	ENST00000683916.1	UniProtKB/TrEMBL
	ENST00000684289.1	UniProtKB/TrEMBL
	ENST00000684386	ENTREZGENE
	ENST00000684386.1	UniProtKB/TrEMBL
GTEx	ENSG00000138821	GTEx
HGNC ID	HGNC:20862	ENTREZGENE
Human Proteome Map	SLC39A8	Human Proteome Map
InterPro	ZIP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ZIP_Transporter	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:64116	UniProtKB/Swiss-Prot
NCBI Gene	64116	ENTREZGENE
OMIM	608732	OMIM
PANTHER	METAL CATION SYMPORTER ZIP8	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SOLUTE CARRIER FAMILY 39	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Zip	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134931507	PharmGKB
UniProt	A0A804HHS9_HUMAN	UniProtKB/TrEMBL
	A0A804HHT0_HUMAN	UniProtKB/TrEMBL
	A0A804HJR0	ENTREZGENE, UniProtKB/TrEMBL
	A0A804HKQ9_HUMAN	UniProtKB/TrEMBL
	A0A804HKW0	ENTREZGENE, UniProtKB/TrEMBL
	A0A804HKX2_HUMAN	UniProtKB/TrEMBL
	B4E2H3	ENTREZGENE
	Q96SM9	ENTREZGENE
	Q9BVC0	ENTREZGENE
	Q9C0K1	ENTREZGENE
	Q9NSA4	ENTREZGENE
	S39A8_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	B4E2H3	UniProtKB/Swiss-Prot
	Q96SM9	UniProtKB/Swiss-Prot
	Q9BVC0	UniProtKB/Swiss-Prot
	Q9NSA4	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-23	SLC39A8	solute carrier family 39 member 8	SLC39A8	solute carrier family 39 (zinc transporter), 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)

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

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

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Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Human Phenotype Annotations - HPO

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