Advanced Search (OLGA)

Gene: MYOCD (myocardin) Homo sapiens

Analyze

Symbol:

MYOCD

Name:

myocardin

RGD ID:

1344327

HGNC Page

HGNC:16067

Description:

Enables DNA-binding transcription factor binding activity and transcription coactivator activity. Involved in several processes, including cardiac muscle cell myoblast differentiation; positive regulation of muscle cell differentiation; and regulation of DNA-templated transcription. Located in nucleus. Implicated in congenital megabladder. Biomarker of aortic atherosclerosis and dilated cardiomyopathy.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

MGBL; MYCD

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Myocd (myocardin)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Myocd (myocardin)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Myocd (myocardin)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	MYOCD (myocardin)	NCBI	Ortholog
Canis lupus familiaris (dog):	MYOCD (myocardin)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Myocd (myocardin)	NCBI	Ortholog
Sus scrofa (pig):	MYOCD (myocardin)	HGNC	Ensembl, Inparanoid, NCBI, OrthoDB, Panther
Chlorocebus sabaeus (green monkey):	MYOCD (myocardin)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Myocd (myocardin)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	C1h10orf88 (similar to human chromosome 10 open reading frame 88)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Myocd (myocardin)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Myocd (myocardin)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	myocd (myocardin)	Alliance	DIOPT (ZFIN)
Drosophila melanogaster (fruit fly):	Mrtf	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	myocd	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	myocd.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	myocd.S	Alliance	DIOPT (Xenbase)

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	17	12,665,890 - 12,768,949 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	12,665,890 - 12,768,949 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	12,569,207 - 12,672,266 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	12,510,231 - 12,607,686 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	12,510,230 - 12,607,686	NCBI
Celera	17	12,594,549 - 12,695,987 (+)	NCBI		Celera
Cytogenetic Map	17	p12	NCBI
HuRef	17	12,464,600 - 12,566,080 (+)	NCBI		HuRef
CHM1_1	17	12,577,982 - 12,679,406 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	12,573,362 - 12,676,444 (+)	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

aortic atherosclerosis (IEP,ISO)

atrial fibrillation (EXP)

Cardio-Renal Syndrome (IEP,ISO)

Cardiomegaly (EXP)

congenital heart disease (ISO)

congenital megabladder (IAGP,ISS)

congestive heart failure (ISO)

dilated cardiomyopathy (IEP,ISO,ISS)

epilepsy (IAGP)

intracranial aneurysm (ISO)

patent ductus arteriosus (ISS)

prostate cancer (IAGP)

prune belly syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-epigallocatechin 3-gallate (EXP)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

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

4,4'-sulfonyldiphenol (ISO)

aflatoxin B1 (EXP)

Aflatoxin B2 alpha (EXP)

ammonium chloride (ISO)

angiotensin II (EXP)

arsane (EXP)

arsenic atom (EXP)

arsenous acid (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[a]pyrene diol epoxide I (EXP)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

Butylbenzyl phthalate (ISO)

cadmium atom (EXP)

cadmium dichloride (EXP)

carbon nanotube (EXP,ISO)

chlorpyrifos (ISO)

cisplatin (EXP)

crocidolite asbestos (EXP)

cyclosporin A (EXP)

diarsenic trioxide (EXP)

dibutyl phthalate (ISO)

diethyl phthalate (ISO)

Dimethyl phthalate (ISO)

dipentyl phthalate (ISO)

dorsomorphin (EXP)

doxorubicin (EXP,ISO)

entinostat (EXP)

fonofos (EXP)

formaldehyde (EXP)

furan (ISO)

geldanamycin (EXP)

genistein (ISO)

gentamycin (ISO)

manganese atom (EXP)

manganese(0) (EXP)

manganese(II) chloride (EXP)

nickel atom (EXP)

nickel sulfate (EXP)

nitrofen (ISO)

ozone (ISO)

Paeonol (ISO)

panobinostat (EXP)

parathion (EXP)

phenylephrine (ISO)

phenylmercury acetate (EXP)

pirinixic acid (ISO)

progesterone (EXP)

resveratrol (ISO)

SB 203580 (EXP)

SB 431542 (EXP)

sodium arsenate (ISO)

sodium arsenite (EXP)

sulforaphane (EXP)

sunitinib (EXP)

terbufos (EXP)

testosterone (ISO)

titanium dioxide (ISO)

trichloroethene (ISO)

trichostatin A (EXP)

triclosan (EXP)

UTP (ISO)

valproic acid (EXP,ISO)

XL147 (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cardiac muscle cell apoptotic process (IEA)

cardiac muscle cell differentiation (IBA,IEA,ISS)

cardiac muscle cell myoblast differentiation (IDA)

cardiac vascular smooth muscle cell differentiation (ISS)

cardiac ventricle development (IEA)

cardiocyte differentiation (NAS)

cell growth involved in cardiac muscle cell development (ISO)

cellular component maintenance (IEA)

cellular response to angiotensin (ISO)

cellular response to growth factor stimulus (ISO)

cellular response to hypoxia (ISO)

cellular response to transforming growth factor beta stimulus (ISO)

chromatin organization (IEA)

digestive tract development (IEA)

ductus arteriosus closure (IEA)

heart development (IEA,ISO)

hepatic stellate cell activation (ISO)

lung alveolus development (IEA)

negative regulation of amyloid-beta clearance (IMP)

negative regulation of cardiac muscle cell apoptotic process (IEA)

negative regulation of cell adhesion molecule production (IEA)

negative regulation of cell population proliferation (IDA)

negative regulation of myotube differentiation (IEA)

negative regulation of platelet-derived growth factor receptor-beta signaling pathway (IEA)

negative regulation of skeletal muscle cell differentiation (IDA)

negative regulation of transcription by RNA polymerase II (IEA)

negative regulation of vascular associated smooth muscle cell migration (IEA)

negative regulation of vascular associated smooth muscle cell proliferation (IEA)

positive regulation of cardiac muscle cell differentiation (IDA)

positive regulation of cardiac muscle hypertrophy (ISO)

positive regulation of cell population proliferation (IEA)

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

positive regulation of epithelial to mesenchymal transition (ISO)

positive regulation of gene expression (IEA)

positive regulation of miRNA transcription (IEA)

positive regulation of smooth muscle cell differentiation (IDA)

positive regulation of smooth muscle contraction (IDA)

positive regulation of transcription by RNA polymerase II (IBA,IDA,IEA,ISO)

positive regulation of transforming growth factor beta receptor signaling pathway (IEA)

positive regulation of vascular associated smooth muscle cell migration (ISO)

regulation of cell growth by extracellular stimulus (IEA)

regulation of myoblast differentiation (IEA)

regulation of phenotypic switching (IEA)

regulation of smooth muscle cell differentiation (ISO,TAS)

regulation of transcription by RNA polymerase II (IEA)

response to hypoxia (IMP)

response to mechanical stimulus (ISO)

response to muscle stretch (ISO)

smooth muscle cell differentiation (IBA,IDA,IEA,IMP,ISO)

transcription by RNA polymerase II (IEA)

transcription initiation-coupled chromatin remodeling (IEA,ISS)

urinary bladder development (IEA,IMP)

uterus development (IEA)

vascular associated smooth muscle cell differentiation (IEA)

vasculogenesis (IEA)

ventricular cardiac muscle cell differentiation (IEA)

Cellular Component

chromatin (IEA)

cytoplasm (ISO)

nucleus (IBA,IDA,IEA,ISO)

protein-DNA complex (ISO)

Molecular Function

DNA-binding transcription factor binding (IPI)

histone acetyltransferase binding (IEA)

histone deacetylase binding (IEA)

protein binding (IPI,ISO)

R-SMAD binding (IEA)

RNA polymerase II-specific DNA-binding transcription factor binding (IEA,ISS)

transcription coactivator activity (IBA,IDA,IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

platelet-derived growth factor signaling pathway (EXP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal left ventricle morphology (IAGP)

Atrial septal defect (IAGP)

Autosomal dominant inheritance (IAGP)

Bicuspid aortic valve (IAGP)

Fetal megacystis (IAGP)

Hyperechogenic kidneys (IAGP)

Left ventricular noncompaction cardiomyopathy (IAGP)

Multiple glomerular cysts (IAGP)

Patent ductus arteriosus (IAGP)

Prostate cancer (IAGP)

Prune belly (IAGP)

Seizure (IAGP)

Stage 5 chronic kidney disease (IAGP)

Ventricular septal defect (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Myocardin regulates BMP10 expression and is required for heart development.	Huang J, etal., J Clin Invest. 2012 Oct;122(10):3678-91. doi: 10.1172/JCI63635. Epub 2012 Sep 17.
3.	Myocardin is required for cardiomyocyte survival and maintenance of heart function.	Huang J, etal., Proc Natl Acad Sci U S A. 2009 Nov 3;106(44):18734-9. doi: 10.1073/pnas.0910749106. Epub 2009 Oct 22.
4.	Myocardin gene regulatory variants as surrogate markers of cardiac hypertrophy - study in a genetically homogeneous population.	Kontaraki JE, etal., Clin Genet. 2008 Jan;73(1):71-8. doi: 10.1111/j.1399-0004.2007.00932.x. Epub 2007 Nov 19.
5.	Effects of flavonoids on MicroRNA 145 regulation through Klf4 and myocardin in neointimal formation in vitro and in vivo.	Lin CM, etal., J Nutr Biochem. 2018 Feb;52:27-35. doi: 10.1016/j.jnutbio.2017.08.016. Epub 2017 Sep 14.
6.	Myocardin ablation in a cardiac-renal rat model.	Mittal A, etal., Sci Rep. 2019 Apr 10;9(1):5872. doi: 10.1038/s41598-019-42009-z.
7.	PID Annotation Import Pipeline	Pipeline to import Pathway Interaction Database annotations from NCI into RGD
8.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
10.	Myocardin mRNA is augmented in the failing myocardium: expression profiling in the porcine model and human dilated cardiomyopathy.	Torrado M, etal., J Mol Med (Berl). 2003 Sep;81(9):566-77. doi: 10.1007/s00109-003-0470-7. Epub 2003 Aug 13.
11.	Myocardin suppression increases lipid retention and atherosclerosis via downregulation of ABCA1 in vascular smooth muscle cells.	Xia XD, etal., Biochim Biophys Acta Mol Cell Biol Lipids. 2021 Apr;1866(4):158824. doi: 10.1016/j.bbalip.2020.158824. Epub 2020 Oct 7.
12.	Regulation of smooth muscle contractility by competing endogenous mRNAs in intracranial aneurysms.	Zhang M, etal., J Neuropathol Exp Neurol. 2015 May;74(5):411-24. doi: 10.1097/NEN.0000000000000185.

Additional References at PubMed

PMID:11439182	PMID:12397177	PMID:12477932	PMID:12640126	PMID:12756293	PMID:14702039	PMID:14970199	PMID:15014501	PMID:15907818	PMID:16054032	PMID:16141410	PMID:16151017
PMID:16224064	PMID:16344560	PMID:16625196	PMID:16818234	PMID:17215356	PMID:17292825	PMID:17360478	PMID:17430246	PMID:17579192	PMID:17620599	PMID:17938287	PMID:17940050
PMID:17991879	PMID:18451334	PMID:18772130	PMID:18852265	PMID:19098903	PMID:19156129	PMID:19237536	PMID:19276386	PMID:19342595	PMID:19578358	PMID:19776005	PMID:19797053
PMID:19801679	PMID:19883264	PMID:19952936	PMID:20068148	PMID:20379614	PMID:20385216	PMID:20458751	PMID:20560679	PMID:20848417	PMID:21051663	PMID:21506120	PMID:21873635
PMID:21984848	PMID:22075245	PMID:22157009	PMID:22666593	PMID:22675492	PMID:22843699	PMID:22850315	PMID:22937150	PMID:23175675	PMID:23342164	PMID:23671695	PMID:23704920
PMID:23861494	PMID:24060351	PMID:24344135	PMID:24607789	PMID:24667918	PMID:24681789	PMID:25190111	PMID:25384061	PMID:25416956	PMID:25614278	PMID:26077572	PMID:26100622
PMID:26129946	PMID:26181633	PMID:26244347	PMID:27144530	PMID:27156566	PMID:27403897	PMID:27571517	PMID:28342807	PMID:28572685	PMID:28631251	PMID:30575818	PMID:30605348
PMID:31513549	PMID:31515488	PMID:31741433	PMID:31815603	PMID:32029901	PMID:32039481	PMID:32885587	PMID:34694145	PMID:35136037	PMID:35913515	PMID:38334954	PMID:38349126
PMID:38824221	PMID:38858497

Genomics

Comparative Map Data

MYOCD
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	12,665,890 - 12,768,949 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	12,665,890 - 12,768,949 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	12,569,207 - 12,672,266 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	12,510,231 - 12,607,686 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	12,510,230 - 12,607,686	NCBI
Celera	17	12,594,549 - 12,695,987 (+)	NCBI		Celera
Cytogenetic Map	17	p12	NCBI
HuRef	17	12,464,600 - 12,566,080 (+)	NCBI		HuRef
CHM1_1	17	12,577,982 - 12,679,406 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	12,573,362 - 12,676,444 (+)	NCBI		T2T-CHM13v2.0

Myocd
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	65,064,434 - 65,160,821 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	65,067,387 - 65,160,815 (-)	Ensembl		GRCm39 Ensembl
GRCm38	11	65,173,608 - 65,269,989 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	65,176,561 - 65,269,989 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	64,990,063 - 65,083,491 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	64,992,756 - 65,086,175 (-)	NCBI		MGSCv36	mm8
Celera	11	72,112,506 - 72,207,425 (-)	NCBI		Celera
Cytogenetic Map	11	B3	NCBI
cM Map	11	40.42	NCBI

Myocd
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	50,332,356 - 50,426,819 (-)	NCBI		GRCr8
mRatBN7.2	10	49,833,219 - 49,928,806 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	49,836,641 - 49,927,627 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	54,505,304 - 54,596,319 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	53,995,291 - 54,086,296 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	49,509,995 - 49,600,991 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	51,682,053 - 51,781,458 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	51,683,540 - 51,778,986 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	51,439,727 - 51,534,567 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	51,496,223 - 51,588,226 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	10	51,509,851 - 51,601,849 (-)	NCBI
Celera	10	49,052,568 - 49,143,747 (-)	NCBI		Celera
Cytogenetic Map	10	q24	NCBI

Myocd
(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_004955467	4,656,380 - 4,743,110 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955467	4,653,065 - 4,743,438 (-)	NCBI	ChiLan1.0	ChiLan1.0

MYOCD
(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	19	60,982,668 - 61,082,874 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	17	65,789,278 - 65,889,518 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	17	38,880,120 - 38,983,246 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	17	43,578,967 - 43,681,659 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	17	43,584,259 - 43,681,659 (-)	Ensembl	panpan1.1		panPan2

MYOCD
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	36,674,476 - 36,774,435 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	36,674,300 - 36,769,327 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	36,774,863 - 36,918,323 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	36,738,753 - 36,883,183 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	36,782,154 - 36,879,172 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	36,711,643 - 36,856,024 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	36,659,301 - 36,802,936 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	36,843,479 - 36,993,391 (+)	NCBI		UU_Cfam_GSD_1.0

Myocd
(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_024405602	51,782,304 - 51,881,336 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936595	5,256,785 - 5,351,723 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936595	5,256,615 - 5,356,563 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MYOCD
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	12	56,931,317 - 57,029,258 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	12	56,931,628 - 57,029,258 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	12	59,928,695 - 59,945,526 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

MYOCD
(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	16	11,923,464 - 12,100,897 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	16	12,000,197 - 12,095,552 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666059	9,137,934 - 9,239,568 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Myocd
(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 1.0	NW_004624877	618,789 - 647,471 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in MYOCD
148 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001146312.2(MYOCD):c.416-4585C>A	single nucleotide variant	Lung cancer [RCV000100355]	Chr17:12731576 [GRCh38] Chr17:12634893 [GRCh37] Chr17:17p12	uncertain significance
GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	copy number gain	See cases [RCV000052476]	Chr17:10892259..17964282 [GRCh38] Chr17:10795576..17867596 [GRCh37] Chr17:10736301..17808321 [NCBI36] Chr17:17p12-11.2	pathogenic
NM_001146312.2(MYOCD):c.367G>A (p.Glu123Lys)	single nucleotide variant	Malignant melanoma [RCV000071333]	Chr17:12722960 [GRCh38] Chr17:12626277 [GRCh37] Chr17:12567002 [NCBI36] Chr17:17p12	not provided
NM_001146312.3(MYOCD):c.659C>T (p.Ala220Val)	single nucleotide variant	not specified [RCV004337787]	Chr17:12739270 [GRCh38] Chr17:12642587 [GRCh37] Chr17:12583312 [NCBI36] Chr17:17p12	uncertain significance\|not provided
NM_001146312.2(MYOCD):c.688A>C (p.Thr230Pro)	single nucleotide variant	Malignant melanoma [RCV000071335]	Chr17:12739299 [GRCh38] Chr17:12642616 [GRCh37] Chr17:12583341 [NCBI36] Chr17:17p12	not provided
NM_001146312.2(MYOCD):c.1125G>A (p.Lys375=)	single nucleotide variant	Malignant melanoma [RCV000071336]	Chr17:12746072 [GRCh38] Chr17:12649389 [GRCh37] Chr17:12590114 [NCBI36] Chr17:17p12	not provided
NM_001146312.2(MYOCD):c.1371G>A (p.Pro457=)	single nucleotide variant	Malignant melanoma [RCV000071337]	Chr17:12752659 [GRCh38] Chr17:12655976 [GRCh37] Chr17:12596701 [NCBI36] Chr17:17p12	not provided
NM_001146312.2(MYOCD):c.1494G>A (p.Met498Ile)	single nucleotide variant	Malignant melanoma [RCV000071338]	Chr17:12752782 [GRCh38] Chr17:12656099 [GRCh37] Chr17:12596824 [NCBI36] Chr17:17p12	not provided
NM_001146312.2(MYOCD):c.1662G>A (p.Arg554=)	single nucleotide variant	Malignant melanoma [RCV000071339]	Chr17:12752950 [GRCh38] Chr17:12656267 [GRCh37] Chr17:12596992 [NCBI36] Chr17:17p12	not provided
NM_001146312.2(MYOCD):c.2597G>A (p.Gly866Glu)	single nucleotide variant	Malignant melanoma [RCV000071340]	Chr17:12763280 [GRCh38] Chr17:12666597 [GRCh37] Chr17:12607322 [NCBI36] Chr17:17p12	not provided
NM_001146312.2(MYOCD):c.973G>A (p.Glu325Lys)	single nucleotide variant	Malignant melanoma [RCV000063141]	Chr17:12745920 [GRCh38] Chr17:12649237 [GRCh37] Chr17:12589962 [NCBI36] Chr17:17p12	not provided
NM_001146312.2(MYOCD):c.1828G>A (p.Gly610Arg)	single nucleotide variant	Malignant melanoma [RCV000063142]	Chr17:12753116 [GRCh38] Chr17:12656433 [GRCh37] Chr17:12597158 [NCBI36] Chr17:17p12	not provided
NM_001146312.3(MYOCD):c.543C>T (p.Asp181=)	single nucleotide variant	not provided [RCV000087186]	Chr17:12736288 [GRCh38] Chr17:12639605 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.2678del (p.Lys893fs)	deletion	Malignant tumor of prostate [RCV000149360]	Chr17:12763360 [GRCh38] Chr17:12666677 [GRCh37] Chr17:17p12	uncertain significance
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	copy number gain	See cases [RCV000142236]	Chr17:150732..14764202 [GRCh38] Chr17:525..14667519 [GRCh37] Chr17:525..14608244 [NCBI36] Chr17:17p13.3-12	pathogenic
NM_001146312.3(MYOCD):c.1252A>G (p.Ile418Val)	single nucleotide variant	Seizure [RCV000162186]\|not specified [RCV002247560]	Chr17:12752540 [GRCh38] Chr17:12655857 [GRCh37] Chr17:17p12	likely pathogenic\|benign
Single allele	complex	Breast ductal adenocarcinoma [RCV000207129]	Chr17:9586165..16325968 [GRCh37] Chr17:17p13.1-11.2	uncertain significance
GRCh37/hg19 17p12(chr17:11225886-12623364)x3	copy number gain	See cases [RCV000449472]	Chr17:11225886..12623364 [GRCh37] Chr17:17p12	uncertain significance
GRCh37/hg19 17p12-11.2(chr17:10771948-21510992)x1	copy number loss	See cases [RCV000447345]	Chr17:10771948..21510992 [GRCh37] Chr17:17p12-11.2	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	copy number gain	See cases [RCV000511439]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	copy number gain	See cases [RCV000511786]	Chr17:525..15027737 [GRCh37] Chr17:17p13.3-12	pathogenic
NM_001146312.3(MYOCD):c.2000C>T (p.Ala667Val)	single nucleotide variant	not specified [RCV004305825]	Chr17:12753288 [GRCh38] Chr17:12656605 [GRCh37] Chr17:17p12	uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	copy number gain	See cases [RCV000512441]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3	copy number gain	not provided [RCV000739325]	Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3	copy number gain	not provided [RCV000739324]	Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3	copy number gain	not provided [RCV000739320]	Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
NM_001146312.3(MYOCD):c.2058+151C>A	single nucleotide variant	not provided [RCV001668019]	Chr17:12753497 [GRCh38] Chr17:12656814 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.1812T>C (p.Ala604=)	single nucleotide variant	not provided [RCV001693589]	Chr17:12753100 [GRCh38] Chr17:12656417 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.1941G>C (p.Gln647His)	single nucleotide variant	not provided [RCV001666304]	Chr17:12753229 [GRCh38] Chr17:12656546 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.2332-246G>T	single nucleotide variant	not provided [RCV001690430]	Chr17:12760404 [GRCh38] Chr17:12663721 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.253+159G>A	single nucleotide variant	not provided [RCV001609743]	Chr17:12717580 [GRCh38] Chr17:12620897 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.1447G>A (p.Gly483Ser)	single nucleotide variant	not provided [RCV000879144]	Chr17:12752735 [GRCh38] Chr17:12656052 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.423G>A (p.Gln141=)	single nucleotide variant	not provided [RCV000959948]	Chr17:12736168 [GRCh38] Chr17:12639485 [GRCh37] Chr17:17p12	benign
MYOCD, 1-BP DEL, NT1053	deletion	MEGABLADDER, CONGENITAL [RCV000984631]	Chr17:17p12	pathogenic
NM_001146312.3(MYOCD):c.2721C>G (p.Gly907=)	single nucleotide variant	not provided [RCV000961480]	Chr17:12763404 [GRCh38] Chr17:12666721 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.226G>A (p.Asp76Asn)	single nucleotide variant	not provided [RCV000947769]	Chr17:12717394 [GRCh38] Chr17:12620711 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.2739G>A (p.Gln913=)	single nucleotide variant	not provided [RCV000961481]	Chr17:12763422 [GRCh38] Chr17:12666739 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.343C>T (p.Arg115Ter)	single nucleotide variant	Megabladder, congenital [RCV000984630]\|Prune belly syndrome [RCV000850243]	Chr17:12722936 [GRCh38] Chr17:12626253 [GRCh37] Chr17:17p12	pathogenic
NM_001146312.3(MYOCD):c.1053_1054del (p.Asn351fs)	deletion	Megabladder, congenital [RCV000984631]\|Prune belly syndrome [RCV000850244]	Chr17:12745999..12746000 [GRCh38] Chr17:12649316..12649317 [GRCh37] Chr17:17p12	pathogenic
NC_000017.11:g.12269251_12706280del	deletion	Megabladder, congenital [RCV000984632]\|Prune belly syndrome [RCV000850245]	Chr17:12269251..12706280 [GRCh38] Chr17:12172568..12609597 [GRCh37] Chr17:17p12	pathogenic
NM_001146312.3(MYOCD):c.416-184T>C	single nucleotide variant	not provided [RCV001595279]	Chr17:12735977 [GRCh38] Chr17:12639294 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.2332-271G>A	single nucleotide variant	not provided [RCV001686782]	Chr17:12760379 [GRCh38] Chr17:12663696 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.2389+297_2389+300del	microsatellite	not provided [RCV001680797]	Chr17:12761000..12761003 [GRCh38] Chr17:12664317..12664320 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.718-92A>G	single nucleotide variant	not provided [RCV001597815]	Chr17:12744091 [GRCh38] Chr17:12647408 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.-64G>A	single nucleotide variant	not provided [RCV001598082]	Chr17:12666125 [GRCh38] Chr17:12569442 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.253+23A>G	single nucleotide variant	not provided [RCV001611055]	Chr17:12717444 [GRCh38] Chr17:12620761 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.2389+153T>C	single nucleotide variant	not provided [RCV001693051]	Chr17:12760860 [GRCh38] Chr17:12664177 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.2058+152C>T	single nucleotide variant	not provided [RCV001674834]	Chr17:12753498 [GRCh38] Chr17:12656815 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.1917G>A (p.Pro639=)	single nucleotide variant	not provided [RCV000885410]	Chr17:12753205 [GRCh38] Chr17:12656522 [GRCh37] Chr17:17p12	likely benign
NM_001146312.3(MYOCD):c.2634C>T (p.Ser878=)	single nucleotide variant	not provided [RCV000961479]	Chr17:12763317 [GRCh38] Chr17:12666634 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.2118C>T (p.His706=)	single nucleotide variant	not provided [RCV000968491]	Chr17:12756473 [GRCh38] Chr17:12659790 [GRCh37] Chr17:17p12	benign\|likely benign
NM_001146312.3(MYOCD):c.971+3_971+6del	microsatellite	Megabladder, congenital [RCV001807686]	Chr17:12744434..12744437 [GRCh38] Chr17:12647751..12647754 [GRCh37] Chr17:17p12	likely pathogenic
NM_001146312.3(MYOCD):c.122-156G>C	single nucleotide variant	not provided [RCV001677870]	Chr17:12715363 [GRCh38] Chr17:12618680 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.718-10T>C	single nucleotide variant	not provided [RCV001539501]	Chr17:12744173 [GRCh38] Chr17:12647490 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.2202+232G>A	single nucleotide variant	not provided [RCV001678070]	Chr17:12756789 [GRCh38] Chr17:12660106 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.717+245T>C	single nucleotide variant	not provided [RCV001676075]	Chr17:12739573 [GRCh38] Chr17:12642890 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.1506T>C (p.Asn502=)	single nucleotide variant	not provided [RCV001617993]	Chr17:12752794 [GRCh38] Chr17:12656111 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.122-209_122-208insCT	insertion	not provided [RCV001595990]	Chr17:12715310..12715311 [GRCh38] Chr17:12618627..12618628 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.2059-232C>T	single nucleotide variant	not provided [RCV001676507]	Chr17:12756182 [GRCh38] Chr17:12659499 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.2332-126C>T	single nucleotide variant	not provided [RCV001685735]	Chr17:12760524 [GRCh38] Chr17:12663841 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.254-238G>A	single nucleotide variant	not provided [RCV001651855]	Chr17:12722609 [GRCh38] Chr17:12625926 [GRCh37] Chr17:17p12	benign
GRCh37/hg19 17p13.1-12(chr17:10493837-15099023)x1	copy number loss	See cases [RCV001195076]	Chr17:10493837..15099023 [GRCh37] Chr17:17p13.1-12	uncertain significance
NC_000017.11:g.12665754T>C	single nucleotide variant	not provided [RCV001662899]	Chr17:12665754 [GRCh38] Chr17:12569071 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.1125+271G>A	single nucleotide variant	not provided [RCV001612563]	Chr17:12746343 [GRCh38] Chr17:12649660 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.2058+48G>A	single nucleotide variant	not provided [RCV001613640]	Chr17:12753394 [GRCh38] Chr17:12656711 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.592-253TA[5]	microsatellite	not provided [RCV001670094]	Chr17:12738950..12738951 [GRCh38] Chr17:12642267..12642268 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.56-174T>C	single nucleotide variant	not provided [RCV001539786]	Chr17:12704954 [GRCh38] Chr17:12608271 [GRCh37] Chr17:17p12	benign
NC_000017.11:g.12665560A>T	single nucleotide variant	not provided [RCV001716375]	Chr17:12665560 [GRCh38] Chr17:12568877 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.971+235T>C	single nucleotide variant	not provided [RCV001710942]	Chr17:12744671 [GRCh38] Chr17:12647988 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.506G>A (p.Ser169Asn)	single nucleotide variant	Megabladder, congenital [RCV001733546]\|not provided [RCV004704644]\|not specified [RCV004040043]	Chr17:12736251 [GRCh38] Chr17:12639568 [GRCh37] Chr17:17p12	likely benign\|uncertain significance
NM_001146312.3(MYOCD):c.1439C>A (p.Pro480His)	single nucleotide variant	not specified [RCV004265600]	Chr17:12752727 [GRCh38] Chr17:12656044 [GRCh37] Chr17:17p12	uncertain significance
GRCh37/hg19 17p12-11.2(chr17:12524223-16047567)x1	copy number loss	Hereditary liability to pressure palsies [RCV001825295]	Chr17:12524223..16047567 [GRCh37] Chr17:17p12-11.2	not provided
Single allele	duplication	not specified [RCV002286369]	Chr17:11915997..17892664 [GRCh38] Chr17:17p12-11.2	pathogenic
NM_001146312.3(MYOCD):c.1685C>T (p.Pro562Leu)	single nucleotide variant	not specified [RCV004322434]	Chr17:12752973 [GRCh38] Chr17:12656290 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.2102A>G (p.His701Arg)	single nucleotide variant	not specified [RCV004076669]	Chr17:12756457 [GRCh38] Chr17:12659774 [GRCh37] Chr17:17p12	likely benign
NM_001146312.3(MYOCD):c.1966A>C (p.Asn656His)	single nucleotide variant	not specified [RCV004242624]	Chr17:12753254 [GRCh38] Chr17:12656571 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.2834C>T (p.Pro945Leu)	single nucleotide variant	not specified [RCV004192942]	Chr17:12763517 [GRCh38] Chr17:12666834 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.109G>C (p.Gly37Arg)	single nucleotide variant	not specified [RCV004094688]	Chr17:12705181 [GRCh38] Chr17:12608498 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.359A>G (p.Glu120Gly)	single nucleotide variant	not specified [RCV004157686]	Chr17:12722952 [GRCh38] Chr17:12626269 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.2073C>A (p.His691Gln)	single nucleotide variant	not specified [RCV004170280]	Chr17:12756428 [GRCh38] Chr17:12659745 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.1734C>A (p.Ser578Arg)	single nucleotide variant	not specified [RCV004209292]	Chr17:12753022 [GRCh38] Chr17:12656339 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.1735T>G (p.Cys579Gly)	single nucleotide variant	not specified [RCV004209293]	Chr17:12753023 [GRCh38] Chr17:12656340 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.1801T>C (p.Cys601Arg)	single nucleotide variant	not specified [RCV004199024]	Chr17:12753089 [GRCh38] Chr17:12656406 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.2185C>G (p.Pro729Ala)	single nucleotide variant	not specified [RCV004076064]	Chr17:12756540 [GRCh38] Chr17:12659857 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.2634C>A (p.Ser878Arg)	single nucleotide variant	not specified [RCV004127621]	Chr17:12763317 [GRCh38] Chr17:12666634 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.1493T>C (p.Met498Thr)	single nucleotide variant	not specified [RCV004160156]	Chr17:12752781 [GRCh38] Chr17:12656098 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.2404G>A (p.Ala802Thr)	single nucleotide variant	not specified [RCV004173558]	Chr17:12763087 [GRCh38] Chr17:12666404 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.2408G>A (p.Arg803Lys)	single nucleotide variant	not specified [RCV004168604]	Chr17:12763091 [GRCh38] Chr17:12666408 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.2689G>C (p.Asp897His)	single nucleotide variant	not provided [RCV003223772]\|not specified [RCV004225904]	Chr17:12763372 [GRCh38] Chr17:12666689 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.1256C>T (p.Thr419Met)	single nucleotide variant	not specified [RCV004227447]	Chr17:12752544 [GRCh38] Chr17:12655861 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.935G>A (p.Arg312Gln)	single nucleotide variant	not specified [RCV004186472]	Chr17:12744400 [GRCh38] Chr17:12647717 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.2893A>G (p.Ile965Val)	single nucleotide variant	not specified [RCV004221472]	Chr17:12763576 [GRCh38] Chr17:12666893 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.2342G>A (p.Arg781Gln)	single nucleotide variant	not specified [RCV004123565]	Chr17:12760660 [GRCh38] Chr17:12663977 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.2078G>C (p.Gly693Ala)	single nucleotide variant	not specified [RCV004156786]	Chr17:12756433 [GRCh38] Chr17:12659750 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.1748C>T (p.Ser583Phe)	single nucleotide variant	not specified [RCV004084589]	Chr17:12753036 [GRCh38] Chr17:12656353 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.232del (p.Val78fs)	deletion	Megabladder, congenital [RCV004789770]	Chr17:12717399 [GRCh38] Chr17:12620716 [GRCh37] Chr17:17p12	likely pathogenic
NM_001146312.3(MYOCD):c.55+2T>C	single nucleotide variant	Megabladder, congenital [RCV004795825]	Chr17:12666245 [GRCh38] Chr17:12569562 [GRCh37] Chr17:17p12	likely pathogenic
NM_001146312.3(MYOCD):c.1208C>T (p.Pro403Leu)	single nucleotide variant	not provided [RCV003223979]	Chr17:12752496 [GRCh38] Chr17:12655813 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.1952T>G (p.Leu651Trp)	single nucleotide variant	not specified [RCV004262621]	Chr17:12753240 [GRCh38] Chr17:12656557 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.2737C>A (p.Gln913Lys)	single nucleotide variant	not specified [RCV004265754]	Chr17:12763420 [GRCh38] Chr17:12666737 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.2792C>G (p.Thr931Ser)	single nucleotide variant	not specified [RCV004252982]	Chr17:12763475 [GRCh38] Chr17:12666792 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.358G>A (p.Glu120Lys)	single nucleotide variant	not specified [RCV004322746]	Chr17:12722951 [GRCh38] Chr17:12626268 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.2536C>T (p.Pro846Ser)	single nucleotide variant	not specified [RCV004327842]	Chr17:12763219 [GRCh38] Chr17:12666536 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.991G>C (p.Val331Leu)	single nucleotide variant	not specified [RCV004361091]	Chr17:12745938 [GRCh38] Chr17:12649255 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.1843G>A (p.Val615Met)	single nucleotide variant	not specified [RCV004355928]	Chr17:12753131 [GRCh38] Chr17:12656448 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.1415C>G (p.Pro472Arg)	single nucleotide variant	not specified [RCV004351543]	Chr17:12752703 [GRCh38] Chr17:12656020 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.1885C>A (p.Leu629Ile)	single nucleotide variant	MYOCD-related condition [RCV004758937]\|not provided [RCV003419663]	Chr17:12753173 [GRCh38] Chr17:12656490 [GRCh37] Chr17:17p12	likely benign
NM_001146312.3(MYOCD):c.2074G>A (p.Asp692Asn)	single nucleotide variant	not provided [RCV003428149]	Chr17:12756429 [GRCh38] Chr17:12659746 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.2225A>G (p.Asp742Gly)	single nucleotide variant	not provided [RCV003413154]	Chr17:12758107 [GRCh38] Chr17:12661424 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.2520C>A (p.Ser840Arg)	single nucleotide variant	not provided [RCV003428150]	Chr17:12763203 [GRCh38] Chr17:12666520 [GRCh37] Chr17:17p12	benign
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	copy number gain	not specified [RCV003987215]	Chr17:525..21510992 [GRCh37] Chr17:17p13.3-11.2	pathogenic
NM_001146312.3(MYOCD):c.1628A>G (p.Glu543Gly)	single nucleotide variant	not provided [RCV003884044]	Chr17:12752916 [GRCh38] Chr17:12656233 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.1146G>A (p.Gln382=)	single nucleotide variant	MYOCD-related condition [RCV004759019]	Chr17:12752434 [GRCh38] Chr17:12655751 [GRCh37] Chr17:17p12	likely benign
NM_001146312.3(MYOCD):c.1226G>T (p.Gly409Val)	single nucleotide variant	not specified [RCV004464760]	Chr17:12752514 [GRCh38] Chr17:12655831 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.1519C>T (p.Pro507Ser)	single nucleotide variant	not specified [RCV004464778]	Chr17:12752807 [GRCh38] Chr17:12656124 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.1564G>A (p.Val522Met)	single nucleotide variant	not specified [RCV004464792]	Chr17:12752852 [GRCh38] Chr17:12656169 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.1916C>T (p.Pro639Leu)	single nucleotide variant	not specified [RCV004464814]	Chr17:12753204 [GRCh38] Chr17:12656521 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.725C>A (p.Ser242Tyr)	single nucleotide variant	not specified [RCV004464866]	Chr17:12744190 [GRCh38] Chr17:12647507 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.2416C>G (p.His806Asp)	single nucleotide variant	not specified [RCV004464828]	Chr17:12763099 [GRCh38] Chr17:12666416 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.82A>G (p.Arg28Gly)	single nucleotide variant	not specified [RCV004464876]	Chr17:12705154 [GRCh38] Chr17:12608471 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.1553A>G (p.Asp518Gly)	single nucleotide variant	not specified [RCV004464786]	Chr17:12752841 [GRCh38] Chr17:12656158 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.868C>G (p.Leu290Val)	single nucleotide variant	not specified [RCV004464877]	Chr17:12744333 [GRCh38] Chr17:12647650 [GRCh37] Chr17:17p12	uncertain significance
GRCh38/hg38 17p12(chr17:12453983-12791857)	copy number loss	Megabladder, congenital [RCV004555192]	Chr17:12453983..12791857 [GRCh38] Chr17:17p12	likely pathogenic
NM_001146312.3(MYOCD):c.1465G>T (p.Val489Phe)	single nucleotide variant	not specified [RCV004464770]	Chr17:12752753 [GRCh38] Chr17:12656070 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.1471G>A (p.Val491Met)	single nucleotide variant	not specified [RCV004464772]	Chr17:12752759 [GRCh38] Chr17:12656076 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.1546G>A (p.Glu516Lys)	single nucleotide variant	not specified [RCV004464782]	Chr17:12752834 [GRCh38] Chr17:12656151 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.761A>G (p.Lys254Arg)	single nucleotide variant	not specified [RCV004464871]	Chr17:12744226 [GRCh38] Chr17:12647543 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.679C>G (p.Pro227Ala)	single nucleotide variant	not specified [RCV004645981]	Chr17:12739290 [GRCh38] Chr17:12642607 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.7C>T (p.Leu3Phe)	single nucleotide variant	not specified [RCV004645982]	Chr17:12666195 [GRCh38] Chr17:12569512 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.1886T>C (p.Leu629Pro)	single nucleotide variant	not specified [RCV004650045]	Chr17:12753174 [GRCh38] Chr17:12656491 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.1016C>T (p.Thr339Met)	single nucleotide variant	not specified [RCV004645980]	Chr17:12745963 [GRCh38] Chr17:12649280 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.986A>G (p.Gln329Arg)	single nucleotide variant	not specified [RCV004650042]	Chr17:12745933 [GRCh38] Chr17:12649250 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.1436C>G (p.Ser479Cys)	single nucleotide variant	not specified [RCV004650043]	Chr17:12752724 [GRCh38] Chr17:12656041 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.712G>A (p.Val238Ile)	single nucleotide variant	not specified [RCV004650046]	Chr17:12739323 [GRCh38] Chr17:12642640 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.2044G>T (p.Val682Leu)	single nucleotide variant	not specified [RCV004650047]	Chr17:12753332 [GRCh38] Chr17:12656649 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.1031C>T (p.Thr344Ile)	single nucleotide variant	MYOCD-related condition [RCV004758962]	Chr17:12745978 [GRCh38] Chr17:12649295 [GRCh37] Chr17:17p12	likely benign
NM_001146312.3(MYOCD):c.537G>A (p.Pro179=)	single nucleotide variant	not provided [RCV004811638]	Chr17:12736282 [GRCh38] Chr17:12639599 [GRCh37] Chr17:17p12	likely benign
NM_001146312.3(MYOCD):c.1333G>A (p.Gly445Ser)	single nucleotide variant	not provided [RCV004811663]	Chr17:12752621 [GRCh38] Chr17:12655938 [GRCh37] Chr17:17p12	benign
NM_001146312.3(MYOCD):c.818A>G (p.Gln273Arg)	single nucleotide variant	not provided [RCV004725770]	Chr17:12744283 [GRCh38] Chr17:12647600 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.*6C>T	single nucleotide variant	MYOCD-related condition [RCV004759183]	Chr17:12763650 [GRCh38] Chr17:12666967 [GRCh37] Chr17:17p12	likely benign
NM_001146312.3(MYOCD):c.1478C>T (p.Thr493Met)	single nucleotide variant	not specified [RCV004831440]	Chr17:12752766 [GRCh38] Chr17:12656083 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.566C>T (p.Ser189Leu)	single nucleotide variant	not specified [RCV004831441]	Chr17:12736311 [GRCh38] Chr17:12639628 [GRCh37] Chr17:17p12	likely benign
NM_001146312.3(MYOCD):c.1652A>G (p.Lys551Arg)	single nucleotide variant	not specified [RCV004831444]	Chr17:12752940 [GRCh38] Chr17:12656257 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.2528C>G (p.Pro843Arg)	single nucleotide variant	not specified [RCV004831449]	Chr17:12763211 [GRCh38] Chr17:12666528 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.2768G>C (p.Ser923Thr)	single nucleotide variant	not specified [RCV004831442]	Chr17:12763451 [GRCh38] Chr17:12666768 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.2425C>A (p.Leu809Ile)	single nucleotide variant	not specified [RCV004831445]	Chr17:12763108 [GRCh38] Chr17:12666425 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.137C>A (p.Ala46Asp)	single nucleotide variant	not specified [RCV004831448]	Chr17:12715534 [GRCh38] Chr17:12618851 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.1082C>G (p.Ser361Cys)	single nucleotide variant	not specified [RCV004831450]	Chr17:12746029 [GRCh38] Chr17:12649346 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.863G>A (p.Arg288Gln)	single nucleotide variant	not specified [RCV004831438]	Chr17:12744328 [GRCh38] Chr17:12647645 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.2444T>C (p.Ile815Thr)	single nucleotide variant	not specified [RCV004831447]	Chr17:12763127 [GRCh38] Chr17:12666444 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.2896G>A (p.Asp966Asn)	single nucleotide variant	not specified [RCV004831453]	Chr17:12763579 [GRCh38] Chr17:12666896 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.1441T>C (p.Ser481Pro)	single nucleotide variant	not specified [RCV004831451]	Chr17:12752729 [GRCh38] Chr17:12656046 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.2404G>C (p.Ala802Pro)	single nucleotide variant	not specified [RCV004831452]	Chr17:12763087 [GRCh38] Chr17:12666404 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.2661G>A (p.Met887Ile)	single nucleotide variant	not specified [RCV004831455]	Chr17:12763344 [GRCh38] Chr17:12666661 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.527C>T (p.Ala176Val)	single nucleotide variant	not specified [RCV004831439]	Chr17:12736272 [GRCh38] Chr17:12639589 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.2489C>T (p.Ser830Leu)	single nucleotide variant	not specified [RCV004831443]	Chr17:12763172 [GRCh38] Chr17:12666489 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.2797T>C (p.Ser933Pro)	single nucleotide variant	not specified [RCV004831454]	Chr17:12763480 [GRCh38] Chr17:12666797 [GRCh37] Chr17:17p12	uncertain significance
NM_001146312.3(MYOCD):c.2539T>C (p.Tyr847His)	single nucleotide variant	not specified [RCV004831457]	Chr17:12763222 [GRCh38] Chr17:12666539 [GRCh37] Chr17:17p12	uncertain significance
GRCh37/hg19 17p13.2-12(chr17:4678235-14745263)x3	copy number gain	not provided [RCV004819316]	Chr17:4678235..14745263 [GRCh37] Chr17:17p13.2-12	pathogenic

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	3334
Count of miRNA genes:	1155
Interacting mature miRNAs:	1413
Transcripts:	ENST00000343344, ENST00000395988, ENST00000425538, ENST00000443061, ENST00000579237
Prediction methods:	Microtar, Miranda, Pita, 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
597098647	GWAS1194721_H	prostate carcinoma QTL GWAS1194721 (human)		0.000008	prostate carcinoma		17	12682142	12682143	Human
596960342	GWAS1079861_H	glomerular filtration rate QTL GWAS1079861 (human)		5e-11	glomerular filtration rate		17	12678312	12678313	Human
597097683	GWAS1193757_H	prostate carcinoma QTL GWAS1193757 (human)		2e-08	prostate carcinoma		17	12682142	12682143	Human
597466836	GWAS1562910_H	atrial fibrillation QTL GWAS1562910 (human)		7e-09	atrial fibrillation		17	12715363	12715364	Human
597473935	GWAS1570009_H	prostate carcinoma QTL GWAS1570009 (human)		0.0000005	prostate carcinoma		17	12673387	12673388	Human
597618507	GWAS1675367_H	atrial fibrillation QTL GWAS1675367 (human)		7e-17	atrial fibrillation		17	12715363	12715364	Human
597612744	GWAS1669604_H	injury QTL GWAS1669604 (human)		1e-12	injury		17	12753425	12753426	Human
597397772	GWAS1493846_H	atrial fibrillation QTL GWAS1493846 (human)		1e-10	atrial fibrillation		17	12709614	12709615	Human
597086607	GWAS1182681_H	PR interval QTL GWAS1182681 (human)		2e-54	PR interval	PR interval (CMO:0000233)	17	12732554	12732555	Human
597210693	GWAS1306767_H	delayed reward discounting measurement QTL GWAS1306767 (human)		0.000005	delayed reward discounting measurement		17	12733416	12733417	Human
597207485	GWAS1303559_H	PR interval QTL GWAS1303559 (human)		1e-11	PR interval	PR interval (CMO:0000233)	17	12734425	12734426	Human
597230334	GWAS1326408_H	eye colour measurement QTL GWAS1326408 (human)		0.000009	eye colour measurement	eye morphological measurement (CMO:0003080)	17	12747980	12747981	Human
596960444	GWAS1079963_H	glomerular filtration rate QTL GWAS1079963 (human)		2e-08	glomerular filtration rate		17	12678312	12678313	Human
407027369	GWAS676345_H	testosterone measurement QTL GWAS676345 (human)		0.000004	testosterone measurement	serum testosterone level (CMO:0000568)	17	12734054	12734055	Human
597505459	GWAS1601533_H	diastolic blood pressure, systolic blood pressure QTL GWAS1601533 (human)		0.000005	diastolic blood pressure, systolic blood pressure	systolic blood pressure (CMO:0000004)	17	12704954	12704955	Human
597162744	GWAS1258818_H	prostate carcinoma QTL GWAS1258818 (human)		9e-10	prostate carcinoma		17	12677416	12677417	Human
597532461	GWAS1628535_H	atrial fibrillation QTL GWAS1628535 (human)		1e-15	atrial fibrillation		17	12715363	12715364	Human
596959526	GWAS1079045_H	glomerular filtration rate QTL GWAS1079045 (human)		4e-09	glomerular filtration rate		17	12678312	12678313	Human
597504047	GWAS1600121_H	diastolic blood pressure, systolic blood pressure QTL GWAS1600121 (human)		4e-08	diastolic blood pressure, systolic blood pressure	systolic blood pressure (CMO:0000004)	17	12704954	12704955	Human
597081317	GWAS1177391_H	Self-injurious behavior QTL GWAS1177391 (human)		0.000004	Self-injurious behavior		17	12768910	12768911	Human
597619050	GWAS1675910_H	atrial fibrillation QTL GWAS1675910 (human)		2e-15	atrial fibrillation		17	12715363	12715364	Human
597066657	GWAS1162731_H	fear of severe pain measurement QTL GWAS1162731 (human)		0.0000002	fear-related behavior trait (VT:0010715)		17	12695685	12695686	Human
597066785	GWAS1162859_H	fear of pain measurement QTL GWAS1162859 (human)		0.0000006	fear-related behavior trait (VT:0010715)		17	12695685	12695686	Human
597478625	GWAS1574699_H	atrial fibrillation QTL GWAS1574699 (human)		1e-11	atrial fibrillation		17	12715363	12715364	Human
597232231	GWAS1328305_H	PR interval QTL GWAS1328305 (human)		9e-09	PR interval	PR interval (CMO:0000233)	17	12732554	12732555	Human
597085545	GWAS1181619_H	electrocardiography QTL GWAS1181619 (human)		4e-11	electrocardiography		17	12731474	12731475	Human

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	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2325	2788	2234	4774	1627	2078	5	543	1164	384	2176	6286	5685	21	3615	766	1619	1427	168	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_012972	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001146312	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001378306	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_153604	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005256863	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017025342	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317820	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054317821	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC005358	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF532596	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK095846	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK096753	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK097821	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK128608	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK292885	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY764180	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC126307	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC143391	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ000229	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX640673	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471108	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA650534	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB226467	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000343344 ⟹ ENSP00000341835

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	12,666,189 - 12,763,644 (+)	Ensembl

Ensembl Acc Id:

ENST00000395988

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	12,720,289 - 12,758,306 (+)	Ensembl

Ensembl Acc Id:

ENST00000425538 ⟹ ENSP00000401678

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	12,665,890 - 12,768,949 (+)	Ensembl

Ensembl Acc Id:

ENST00000443061 ⟹ ENSP00000400148

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	12,744,351 - 12,765,329 (+)	Ensembl

Ensembl Acc Id:

ENST00000579237 ⟹ ENSP00000462694

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	12,665,890 - 12,717,390 (+)	Ensembl

RefSeq Acc Id:

NM_001146312 ⟹ NP_001139784

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	12,665,890 - 12,768,949 (+)	NCBI
GRCh37	17	12,569,207 - 12,672,266 (+)	NCBI
HuRef	17	12,464,600 - 12,567,695 (+)	NCBI
CHM1_1	17	12,577,982 - 12,681,021 (+)	NCBI
T2T-CHM13v2.0	17	12,573,362 - 12,676,444 (+)	NCBI

Sequence:

show sequence

AATCGCCGGCAGCCTATGACATCAGACAGGAACGCCTGGGATGCCGCGCTGCTCCTGGCCAACC
TCCGAGGAGGAGGAGGGTCCCGCCGGCTAAGAGTTAATTAGCCCCGCACGGCGAGGGGGGAGGC
GCCAGTTTTCTGGGGACACTGGCTGCCACTGTACTCCTACCCAGGGGAGCTCACGGAGAGTTGG
ATGAATTCTGGGTTGTTAGCTGCGGTCAGCTGGGCTCCCGGGAGCCTGTTGCTGGTGGAGAACA
GGGGGCGCCTGGCCAAGGGACCAGCGGCTTGCTGAGACTCAACATGACACTCCTGGGGTCTGAG
CATTCCTTGCTGATTAGGAGCAAGTTCAGATCAGTTTTACAGTTAAGACTTCAACAAAGAAGGA
CCCAGGAACAACTGGCTAACCAAGGCATAATACCACCACTGAAACGTCCAGCTGAATTCCATGA
GCAAAGAAAACATTTGGATAGTGACAAGGCTAAAAATTCCCTGAAGCGCAAAGCCAGAAACAGG
TGCAACAGTGCCGACTTGGTTAATATGCACATACTCCAAGCTTCCACTGCAGAGAGGTCCATTC
CAACTGCTCAGATGAAGCTGAAAAGAGCCCGACTCGCCGATGATCTCAATGAAAAAATTGCTCT
ACGACCAGGGCCACTGGAGCTGGTGGAAAAAAACATTCTTCCTGTGGATTCTGCTGTGAAAGAG
GCCATAAAAGGTAACCAGGTGAGTTTCTCCAAATCCACGGATGCTTTTGCCTTTGAAGAGGACA
GCAGCAGCGATGGGCTTTCTCCGGATCAGACTCGAAGTGAAGACCCCCAAAACTCAGCGGGATC
CCCGCCAGACGCTAAAGCCTCAGATACCCCTTCGACAGGTTCTCTGGGGACAAACCAGGATCTT
GCTTCTGGCTCAGAAAATGACAGAAATGACTCAGCCTCACAGCCCAGCCACCAGTCAGATGCGG
GGAAGCAGGGGCTTGGCCCCCCCAGCACCCCCATAGCCGTGCATGCTGCTGTAAAGTCCAAATC
CTTGGGTGACAGTAAGAACCGCCACAAAAAGCCCAAGGACCCCAAGCCAAAGGTGAAGAAGCTT
AAATATCACCAGTACATTCCCCCAGACCAGAAGGCAGAGAAGTCCCCTCCACCTATGGACTCAG
CCTACGCTCGGCTGCTCCAGCAACAGCAGCTGTTCCTGCAGCTCCAAATCCTCAGCCAGCAGCA
GCAGCAGCAGCAACACCGATTCAGCTACCTAGGGATGCACCAAGCTCAGCTTAAGGAACCAAAT
GAACAGATGGTCAGAAATCCAAACTCTTCTTCAACGCCACTGAGCAATACCCCCTTGTCTCCTG
TCAAAAACAGTTTTTCTGGACAAACTGGTGTCTCTTCTTTCAAACCAGGCCCACTCCCACCTAA
CCTGGATGATCTGAAGGTCTCTGAATTAAGACAACAGCTTCGAATTCGGGGCTTGCCTGTGTCA
GGCACCAAAACGGCTCTCATGGACCGGCTTCGACCCTTCCAGGACTGCTCTGGCAACCCAGTGC
CGAACTTTGGGGATATAACGACTGTCACTTTTCCTGTCACACCCAACACGCTGCCCAATTACCA
GTCTTCCTCTTCTACCAGTGCCCTGTCCAACGGCTTCTACCACTTTGGCAGCACCAGCTCCAGC
CCCCCGATCTCCCCAGCCTCCTCTGACCTGTCAGTCGCTGGGTCCCTGCCGGACACCTTCAATG
ATGCCTCCCCCTCCTTCGGCCTGCACCCGTCCCCAGTCCACGTGTGCACGGAGGAAAGTCTCAT
GAGCAGCCTGAATGGGGGCTCTGTTCCTTCTGAGCTGGATGGGCTGGACTCCGAGAAGGACAAG
ATGCTGGTGGAGAAGCAGAAGGTGATCAATGAACTCACCTGGAAACTCCAGCAAGAGCAGAGGC
AGGTGGAGGAGCTGAGGATGCAGCTTCAGAAGCAGAAAAGGAATAACTGTTCAGAGAAGAAGCC
GCTGCCTTTCCTGGCTGCCTCCATCAAGCAGGAAGAGGCTGTCTCCAGCTGTCCTTTTGCATCC
CAAGTACCTGTGAAAAGACAAAGCAGCAGCTCAGAGTGTCACCCACCGGCTTGTGAAGCTGCTC
AACTCCAGCCTCTTGGAAATGCTCATTGTGTGGAGTCCTCAGATCAAACCAATGTACTTTCTTC
CACATTTCTCAGCCCCCAGTGTTCCCCTCAGCATTCACCGCTGGGGGCTGTGAAAAGCCCACAG
CACATCAGTTTGCCCCCATCACCCAACAACCCTCACTTTCTGCCCTCATCCTCCGGGGCCCAGG
GAGAAGGGCACAGGGTCTCCTCGCCCATCAGCAGCCAGGTGTGCACTGCACAGAACTCAGGAGC
ACACGATGGCCATCCTCCAAGCTTCTCTCCCCATTCTTCCAGCCTCCACCCGCCCTTCTCTGGA
GCCCAAGCAGACAGCAGTCATGGTGCCGGGGGAAACCCTTGTCCCAAAAGCCCATGTGTACAGC
AAAAGATGGCTGGTTTACACTCTTCTGATAAGGTGGGGCCAAAGTTTTCAATTCCATCCCCAAC
TTTTTCTAAGTCAAGTTCAGCAATTTCAGAGGTAACACAGCCTCCATCCTATGAAGATGCCGTA
AAGCAGCAAATGACCCGGAGTCAGCAGATGGATGAACTCCTGGACGTGCTTATTGAAAGCGGAG
AAATGCCAGCAGACGCTAGAGAGGATCACTCATGTCTTCAAAAAGTCCCAAAGATACCCAGATC
TTCCCGAAGTCCAACTGCTGTCCTCACCAAGCCCTCGGCTTCCTTTGAACAAGCCTCTTCAGGC
AGCCAGATCCCCTTTGATCCCTATGCCACCGACAGTGATGAGCATCTTGAAGTCTTATTAAATT
CCCAGAGCCCCCTAGGAAAGATGAGTGATGTCACCCTTCTAAAAATTGGGAGCGAAGAGCCTCA
CTTTGATGGGATAATGGATGGATTCTCTGGGAAGGCTGCAGAAGACCTCTTCAATGCACATGAG
ATCTTGCCAGGCCCCCTCTCTCCAATGCAGACACAGTTTTCACCCTCTTCTGTGGACAGCAATG
GGCTGCAGTTAAGCTTCACTGAATCTCCCTGGGAAACCATGGAGTGGCTGGACCTCACTCCGCC
AAATTCCACACCAGGCTTTAGCGCCCTCACCACCAGCAGCCCCAGCATCTTCAACATCGATTTC
CTGGATGTCACTGATCTCAATTTGAATTCTTCCATGGACCTTCACTTGCAGCAGTGGTAGAATG
CCCAATGCACCAGTGCTATGGAAGACCAATGGAGTTCCATGGGGGAAAGCACACAGCCATACAT
ACTTTACTGTCCAAAAACAGAAGAAGAAGAAGAGAATTAAAAAGAAGCAATGATTTCTGTGCCA
ATGAACAAGAACAAAAGTCATTTTTAGAAATACATATACTGTAATATTTACCAACAGTCAGTAA
CTGTTAATGATTTCAACAATGCATTAAAAGAATGTGCTTTCTCAGATTAAGGATGCCAAAAAAG
ATATTTCACTGCCTTTTCAAAGACCAGTATATTTTCTAGCCCATAATTTTTCTCAGGCATTGTT
GGGGCATAAGCTCACACTGTAAGCTTTTCTCATGAATTCACTAGACATAACGTGGAAGGAAAAC
GTAGTCTTTTGGGAGTACAGGGAAGCCAGCCCCTCAAAGCTTATGGAAGACATACCTGCAATGG
AAGCTGTTGCCCAATGTCTCCATTACTATCTTTCAAAAGAGAAGCCAGACCCAGCTTCAGATCA
AAAGTTCTTGAGACAGAGGAACAAAACCAATCGATTTCCAGGGAAGCTAATCAACTCTCTTTTC
CCTCTACCACAAAACTGCCCTGCTGGAGTGGTTCTGAACCTGTACCCAGGACTCGATGTGGTCA
CTAATAACAATTAACCTGAACTGAGTCCACAGAACTCCACTCGGAACTTTCTTCTTTTTTAACT
AGTGGCCCAATCATTCCCACCATCTCTGTGCTGATAAGTACGTGTCCTAGATGAGAACCCTGAA
GAATGCAGACCTTCTTCCCCCGAAGGAGATGCCACAAGCTCTCCAACACAGCCCCCTTTAGTTC
CAAAGACTAGAGATGACCACATTGGTAGAAGTATATCTCGAGGCACAGGAAGGGAGCCCCACCA
GGGATAATTCAGACAGGACTAGAGAATAACATCATTTCACATACCCTGGGATAAACACCCTGGG
TTCCTATAGAAGGACTATTACTTATGGGAGTCCAACTTCTCCTTTTGTTTTGTTATTATCAGTT
TATCTTTCTCCCACTCCACTTTTCCTTCAAGGTACCAATCCTTTCCTGTTCCTCGTTTGGCCAT
CTTTCTTTTTCTGCCTCCACATTGGGAGGGGAGGACTTCTCAGTTCTAACAAGCTGCCATACTC
CTAAGAAAGCCATTTTTGAAAAATTTAACAATCCAGGTTCTTCTGGAGAACTCATTCTCCACAC
GCACAGTTTGCTGCAAAAGGAAGTTGCAAGAATTTCTTGAGGAAGAAACTGGTGACTTGGTCCA
TCAGTCACGAAGTTCTTTCTATTCTCGTTTAGTTTTCAAGAAATTATTGGTTTGTGTTGCTCTG
GGGAAATTGGAAATCATTACATTGTAAAGACAAATATGGATGATATTTACAAGAGAGAATTTCA
GATCTGGGTTTTTGAAAGAAAACAGAATTGCGCATTGAAAACGATGGAAGGAAAAAGACAATGG
TCTAATGTGCATTCCTCATTACCTCTCGTGGCTTTGGCTGGGAGTTGGAAAAAGCTAAAATTTC
AGAACAGTCTCTGTAAGGCTCTCTGTGGCTCCAGTTCACCATTTTATATTGTTGCATGCTGTAG
AAAGGAGCTATTGCTGTTGTTTTGTTTTTTTATTTAAATCACTAAGGCACTGTTTTTATCTTTT
GTAAAAAAAAAAAAAAAGTTGTTCACTGTGCACTTATAGAAAAAATAATCAAAAATGTTGGGAT
TTTAGAAGCTCTCTTTTTGATAAACCAAAGATTTAGAAGTCATTCCATTGTTAACTTGTAAAAA
TGTGTGAACACAGAGAGTTTTTGGTGATTGCTACTCTGAAAGCTGCCAGATCTTATTCTGGGGG
TGGGATGTGGAGGAATACACATACACACACAAACATACATGTATGTATAATAGATATATACATA
TGTGTATATTATATCTGTGTGTGCATGTATCTCCAAAAGCGGCGTTACAGAGTTCTACACCAAA
AGCCTTTAACCCTTAATCTGCTGTGAATGATACCTGGCCTTTCTCACTATGAATTTCTGATTAA
CCAACCAGACTACACGTTGCCTCTCTGTGTATGACTAACGGCTCCAACCCGATGACTCACAGCT
ACTTGCTTATCGTGAACAAGCTCATCTTGGCAATGAATATGGATGTGAAAAGACAGAACAGCTT
CACCATTAGTAGCTGGAAATGGTATCACAGTCTCTTATAGAGGAATATGAAAGGAACAAGAAAA
TCATTTTACATTCCTTTTATCTGTATTGTGCTTTAAAAGATCCACATGGTAAATTTTTTATTTT
GCTTTTATGTCAGTCATCAGAACCAAAAAAATCCAGAAGAAAAAATTGCCAGTGTTTCCTTTGA
AGATGAAGCTACTGGGGAAGAAAACCTTATTAATACACTCCACACATTTGTTCATTCCTCAGCT
GTTGGTGTTTTCTTGGGGTCTTGACAAAGCTTGCTGGTCAGTGCACTTTTCAGGTGTCACGTTT
TGCTGTTTGTATGTTTTTTCTTCCCCTTACTTCCTTTGGAAAACAAACTCACACAGTGCCCCTA
CTCTGAGACCTGGGACTGAGTGTTAATTATTTTTTCCTTGGGTATTTCTATCTGAGAGACTAGA
CCTAGTTAGGAGGCCTCTGTACTTCTCCAGATTGTACCTTTTTATGGGGATCTTTGAGGCTATG
ACCCAGGACTGATAGATATGCCTTACGGAAGACAAAAGATAAAATGGTTCCTATATCCTAATGC
AAACCAACACAGTTAAAAGAGCAGATCTCTGGATAACTGCTCTCAACCTGCTTCTACAGTCTCC
ACAAACCGCATTCACCCTCTCTCTTCATAGCTCAGACATGAAATTTGAGGGAGAAAACTGGAGA
TAATTGGGAGAAAATTGATGAAGTTGGCTGCTTCCAGTAGATCAGATAATCCATGAATTTGTCT
CCCATTGAGAATTTTATTTTAAATTCTTTTAAACTCTTCGTTGTGTCTTTTGTGATGACAAATC
AGGCATGACTAAAAGATGTACAGAGACTTACGAAGATGGTCACATTCAAGTTCCCTAATGCTCT
TAGAACCTGAAGATGACCATGTGTAGTTTTCTTAAGACCTCTGAACCCCCATGGTGATGAAGAC
TTGAAGACATTTGCAGCTATCTGCTGCAGTCTGGTAGATTCATACTTATCTAAAGAAGTCAAAA
AATTTATTCGTGCAAGTGCTTGCAGGAAGCCAGTGCTTATTAGTAGTGACCCTGCTTCTATCAA
CGTTATTGAGACAACACATATTCTATTCTAAGGGAGAAAGAGGGAGGAAGAGAGGGAGGGAGGG
AGGAAGAAGAGGGAGGGAGCGAGGAAGGAAGATAGGAGATGGGTAGGGGGGTAAAGAGAAAAGG
AGGGAGAAGGGAAGGAAGGAAAGAAGAGAGGAAAGAAAGGAGGGAAGGAAAAAAGGGCCAAACT
TTCTGATCTATGAACTTCTCAGTTCAGCTGTCACATTATGAGAAGTAAATCAGAATTTTTTTAA
GGAGAAGTCATTCTTAGCACTACAATAATTGTACCAGTAATTGAGGAAACCAAGACAATCTTCA
CCTGAATAATAGAGGGTCTGAGAACTGTCAGCCTTTTGCCATTCAAAAACATTTATGTCCAACC
TGAAAAAAAAGCATCAATAAAACCTATCCCAAGCATTCAAAATAGTCCTTTCCAAATGTTATTT
ATTTTAAAGTCAATCAGCTCTTTTAGAAACAGATTCTGGTCTGGCTGAAAACTCCCACAACAAA
TTTACTCATCCAGTGGCTAATATTTAATGCCCACCATGGGCAGAGCACACAAATCTTCAGATAA
ACAATACTGAATTGATTCAGCACAGATTGTTCAGATTTGAATGACCAGGGAGTTGTATTTGCAC
ATGCAAGAACACTAAGAATCTCCCAGTCCTCAAACTAGAAACCTTTCAGCTACGATGAAAAAAA
AAAAGGGGTCTTCATTTTTCCAAGAGGGGGTGGAGGTGGGGATCACTTTTTAGCTAAAAGCTAT
CTCTCACTTCAAAATTCTTGTCTTTTTCTTTGTGGACAAACACCAGTAGTCTATCACTTGGAGA
TCTTTTAATATCTCCCATCATTTAAAACATCCACGAGAGTTTGAAGATTTGTGTTGATTGCCAG
ATACAGAAGCCCCTTGAAAATAAGGAAAGGGTGGAGGAAGCATTTTTGTGTCCTATCCCTACTT
ATCGTAGCAGCTCTATAGACAAAAGGGACACTTACTGGTGAGCCTCTGGCCCTTAAAAGAAAAT
CATCTAAGAATATGAAGGCAATTTGATTTCCCCCCACAGCCCTCAGCTGCCTTCCTCACAGAAG
GAAGTTCCCAAAATTGCTGGTACACAGTTTGCAATCAAATATCAGATATGAGAAAACCTGTAGT
GAAGAGTCTGGGTTCTTGGTTTTCTCATAAATCCAATATAAATTTGTAGGTTGGTTCAGGGTCA
AAATTGCCAGTGCTTTATTAGACAGATGATACTGATAGACACACAGAGCCCAGGTCCTGGAACA
AGACAATCCTGTAGTGCCAAGATCTGGTCAGTTGCGTTAAGGAGCTGGGTTTGATTCTAGAGTC
CAGGTTTATAGAGAAACCCTGGCTAGATTGAGCCTACCCATGGGGAGACGATTTCAAGACAGGA
TGAGATCTGGGAAGAATTTTGTTGTCATCTGCCAGGGAAATTATCACAGGACTCATTGAATGCA
ATAACATGTGAGTAAGTTCCCTTTTGATTCTGGGAATCAGCGATTTTCCCTGTGGATTAAGACA
AACCAACGCCAGAAGGTCTCCTGTGCTTATTTTAACCATCTGCTCCCATCGTGAACCCTGGAGC
ATGCATTTCCTAGAAGTGGTTTCATAGCTCCTGTGTGTTCATGGAAAAGGGGAGTATAATGATG
GGGATGCTGGAAGCTTTTTTAATGTTTTCCAAAGGAAAGGAACCCACACTGCTCCCCAGAGTTC
CTTTCCAATGGCCCTGCAGTAAGAACGGAGGACAATGTATTGCTGGGTGCTTAAAATCCTCCCT
CAGTGAAGCACAAAGAGACACTTTGTAAAGAAAAAAAGAGCAAGCATAGGTTCTCTGTGGGACC
TTGTGGAGTGGTGTTTTCACGTTGGTCTCTTTGGCTCAATTGAGCATAATCAGAAAGAAATGTG
GGTTATTGGGAAGAGACAAAAAGCAGTGGCTAAAATACCAAAGTTGGCATGTGTTCTTTTTTAA
AAAAAAAAAAAAATGCATATATTTTTAAATAAAATGTTTATTTTAAAAAGAAA

hide sequence

RefSeq Acc Id:

NM_001378306 ⟹ NP_001365235

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	12,665,890 - 12,768,949 (+)	NCBI
T2T-CHM13v2.0	17	12,573,362 - 12,676,444 (+)	NCBI

Sequence:

show sequence

AATCGCCGGCAGCCTATGACATCAGACAGGAACGCCTGGGATGCCGCGCTGCTCCTGGCCAACC
TCCGAGGAGGAGGAGGGTCCCGCCGGCTAAGAGTTAATTAGCCCCGCACGGCGAGGGGGGAGGC
GCCAGTTTTCTGGGGACACTGGCTGCCACTGTACTCCTACCCAGGGGAGCTCACGGAGAGTTGG
ATGAATTCTGGGTTGTTAGCTGCGGTCAGCTGGGCTCCCGGGAGCCTGTTGCTGGTGGAGAACA
GGGGGCGCCTGGCCAAGGGACCAGCGGCTTGCTGAGACTCAACATGACACTCCTGGGGTCTGAG
CATTCCTTGCTGATTAGGAGCAAGTTCAGATCAGTTTTACAGTTAAGACTTCAACAAAGAAGGA
CCCAGGAACAACTGGCTAACCAAGGCATAATACCACACTAATCCAAGCTACAGCAGCCACATAC
TTACTGCAAAACCTTGCACTGAAACGTCCAGCTGAATTCCATGAGCAAAGAAAACATTTGGATA
GTGACAAGGCTAAAAATTCCCTGAAGCGCAAAGCCAGAAACAGGTGCAACAGTGCCGACTTGGT
TAATATGCACATACTCCAAGCTTCCACTGCAGAGAGGTCCATTCCAACTGCTCAGATGAAGCTG
AAAAGAGCCCGACTCGCCGATGATCTCAATGAAAAAATTGCTCTACGACCAGGGCCACTGGAGC
TGGTGGAAAAAAACATTCTTCCTGTGGATTCTGCTGTGAAAGAGGCCATAAAAGGTAACCAGGT
GAGTTTCTCCAAATCCACGGATGCTTTTGCCTTTGAAGAGGACAGCAGCAGCGATGGGCTTTCT
CCGGATCAGACTCGAAGTGAAGACCCCCAAAACTCAGCGGGATCCCCGCCAGACGCTAAAGCCT
CAGATACCCCTTCGACAGGTTCTCTGGGGACAAACCAGGATCTTGCTTCTGGCTCAGAAAATGA
CAGAAATGACTCAGCCTCACAGCCCAGCCACCAGTCAGATGCGGGGAAGCAGGGGCTTGGCCCC
CCCAGCACCCCCATAGCCGTGCATGCTGCTGTAAAGTCCAAATCCTTGGGTGACAGTAAGAACC
GCCACAAAAAGCCCAAGGACCCCAAGCCAAAGGTGAAGAAGCTTAAATATCACCAGTACATTCC
CCCAGACCAGAAGGCAGAGAAGTCCCCTCCACCTATGGACTCAGCCTACGCTCGGCTGCTCCAG
CAACAGCAGCTGTTCCTGCAGCTCCAAATCCTCAGCCAGCAGCAGCAGCAGCAGCAACACCGAT
TCAGCTACCTAGGGATGCACCAAGCTCAGCTTAAGGAACCAAATGAACAGATGGTCAGAAATCC
AAACTCTTCTTCAACGCCACTGAGCAATACCCCCTTGTCTCCTGTCAAAAACAGTTTTTCTGGA
CAAACTGGTGTCTCTTCTTTCAAACCAGGCCCACTCCCACCTAACCTGGATGATCTGAAGGTCT
CTGAATTAAGACAACAGCTTCGAATTCGGGGCTTGCCTGTGTCAGGCACCAAAACGGCTCTCAT
GGACCGGCTTCGACCCTTCCAGGACTGCTCTGGCAACCCAGTGCCGAACTTTGGGGATATAACG
ACTGTCACTTTTCCTGTCACACCCAACACGCTGCCCAATTACCAGTCTTCCTCTTCTACCAGTG
CCCTGTCCAACGGCTTCTACCACTTTGGCAGCACCAGCTCCAGCCCCCCGATCTCCCCAGCCTC
CTCTGACCTGTCAGTCGCTGGGTCCCTGCCGGACACCTTCAATGATGCCTCCCCCTCCTTCGGC
CTGCACCCGTCCCCAGTCCACGTGTGCACGGAGGAAAGTCTCATGAGCAGCCTGAATGGGGGCT
CTGTTCCTTCTGAGCTGGATGGGCTGGACTCCGAGAAGGACAAGATGCTGGTGGAGAAGCAGAA
GGTGATCAATGAACTCACCTGGAAACTCCAGCAAGAGCAGAGGCAGGTGGAGGAGCTGAGGATG
CAGCTTCAGAAGCAGAAAAGGAATAACTGTTCAGAGAAGAAGCCGCTGCCTTTCCTGGCTGCCT
CCATCAAGCAGGAAGAGGCTGTCTCCAGCTGTCCTTTTGCATCCCAAGTACCTGTGAAAAGACA
AAGCAGCAGCTCAGAGTGTCACCCACCGGCTTGTGAAGCTGCTCAACTCCAGCCTCTTGGAAAT
GCTCATTGTGTGGAGTCCTCAGATCAAACCAATGTACTTTCTTCCACATTTCTCAGCCCCCAGT
GTTCCCCTCAGCATTCACCGCTGGGGGCTGTGAAAAGCCCACAGCACATCAGTTTGCCCCCATC
ACCCAACAACCCTCACTTTCTGCCCTCATCCTCCGGGGCCCAGGGAGAAGGGCACAGGGTCTCC
TCGCCCATCAGCAGCCAGGTGTGCACTGCACAGAACTCAGGAGCACACGATGGCCATCCTCCAA
GCTTCTCTCCCCATTCTTCCAGCCTCCACCCGCCCTTCTCTGGAGCCCAAGCAGACAGCAGTCA
TGGTGCCGGGGGAAACCCTTGTCCCAAAAGCCCATGTGTACAGCAAAAGATGGCTGGTTTACAC
TCTTCTGATAAGGTGGGGCCAAAGTTTTCAATTCCATCCCCAACTTTTTCTAAGTCAAGTTCAG
CAATTTCAGAGGTAACACAGCCTCCATCCTATGAAGATGCCGTAAAGCAGCAAATGACCCGGAG
TCAGCAGATGGATGAACTCCTGGACGTGCTTATTGAAAGCGGAGAAATGCCAGCAGACGCTAGA
GAGGATCACTCATGTCTTCAAAAAGTCCCAAAGATACCCAGATCTTCCCGAAGTCCAACTGCTG
TCCTCACCAAGCCCTCGGCTTCCTTTGAACAAGCCTCTTCAGGCAGCCAGATCCCCTTTGATCC
CTATGCCACCGACAGTGATGAGCATCTTGAAGTCTTATTAAATTCCCAGAGCCCCCTAGGAAAG
ATGAGTGATGTCACCCTTCTAAAAATTGGGAGCGAAGAGCCTCACTTTGATGGGATAATGGATG
GATTCTCTGGGAAGGCTGCAGAAGACCTCTTCAATGCACATGAGATCTTGCCAGGCCCCCTCTC
TCCAATGCAGACACAGTTTTCACCCTCTTCTGTGGACAGCAATGGGCTGCAGTTAAGCTTCACT
GAATCTCCCTGGGAAACCATGGAGTGGCTGGACCTCACTCCGCCAAATTCCACACCAGGCTTTA
GCGCCCTCACCACCAGCAGCCCCAGCATCTTCAACATCGATTTCCTGGATGTCACTGATCTCAA
TTTGAATTCTTCCATGGACCTTCACTTGCAGCAGTGGTAGAATGCCCAATGCACCAGTGCTATG
GAAGACCAATGGAGTTCCATGGGGGAAAGCACACAGCCATACATACTTTACTGTCCAAAAACAG
AAGAAGAAGAAGAGAATTAAAAAGAAGCAATGATTTCTGTGCCAATGAACAAGAACAAAAGTCA
TTTTTAGAAATACATATACTGTAATATTTACCAACAGTCAGTAACTGTTAATGATTTCAACAAT
GCATTAAAAGAATGTGCTTTCTCAGATTAAGGATGCCAAAAAAGATATTTCACTGCCTTTTCAA
AGACCAGTATATTTTCTAGCCCATAATTTTTCTCAGGCATTGTTGGGGCATAAGCTCACACTGT
AAGCTTTTCTCATGAATTCACTAGACATAACGTGGAAGGAAAACGTAGTCTTTTGGGAGTACAG
GGAAGCCAGCCCCTCAAAGCTTATGGAAGACATACCTGCAATGGAAGCTGTTGCCCAATGTCTC
CATTACTATCTTTCAAAAGAGAAGCCAGACCCAGCTTCAGATCAAAAGTTCTTGAGACAGAGGA
ACAAAACCAATCGATTTCCAGGGAAGCTAATCAACTCTCTTTTCCCTCTACCACAAAACTGCCC
TGCTGGAGTGGTTCTGAACCTGTACCCAGGACTCGATGTGGTCACTAATAACAATTAACCTGAA
CTGAGTCCACAGAACTCCACTCGGAACTTTCTTCTTTTTTAACTAGTGGCCCAATCATTCCCAC
CATCTCTGTGCTGATAAGTACGTGTCCTAGATGAGAACCCTGAAGAATGCAGACCTTCTTCCCC
CGAAGGAGATGCCACAAGCTCTCCAACACAGCCCCCTTTAGTTCCAAAGACTAGAGATGACCAC
ATTGGTAGAAGTATATCTCGAGGCACAGGAAGGGAGCCCCACCAGGGATAATTCAGACAGGACT
AGAGAATAACATCATTTCACATACCCTGGGATAAACACCCTGGGTTCCTATAGAAGGACTATTA
CTTATGGGAGTCCAACTTCTCCTTTTGTTTTGTTATTATCAGTTTATCTTTCTCCCACTCCACT
TTTCCTTCAAGGTACCAATCCTTTCCTGTTCCTCGTTTGGCCATCTTTCTTTTTCTGCCTCCAC
ATTGGGAGGGGAGGACTTCTCAGTTCTAACAAGCTGCCATACTCCTAAGAAAGCCATTTTTGAA
AAATTTAACAATCCAGGTTCTTCTGGAGAACTCATTCTCCACACGCACAGTTTGCTGCAAAAGG
AAGTTGCAAGAATTTCTTGAGGAAGAAACTGGTGACTTGGTCCATCAGTCACGAAGTTCTTTCT
ATTCTCGTTTAGTTTTCAAGAAATTATTGGTTTGTGTTGCTCTGGGGAAATTGGAAATCATTAC
ATTGTAAAGACAAATATGGATGATATTTACAAGAGAGAATTTCAGATCTGGGTTTTTGAAAGAA
AACAGAATTGCGCATTGAAAACGATGGAAGGAAAAAGACAATGGTCTAATGTGCATTCCTCATT
ACCTCTCGTGGCTTTGGCTGGGAGTTGGAAAAAGCTAAAATTTCAGAACAGTCTCTGTAAGGCT
CTCTGTGGCTCCAGTTCACCATTTTATATTGTTGCATGCTGTAGAAAGGAGCTATTGCTGTTGT
TTTGTTTTTTTATTTAAATCACTAAGGCACTGTTTTTATCTTTTGTAAAAAAAAAAAAAAAGTT
GTTCACTGTGCACTTATAGAAAAAATAATCAAAAATGTTGGGATTTTAGAAGCTCTCTTTTTGA
TAAACCAAAGATTTAGAAGTCATTCCATTGTTAACTTGTAAAAATGTGTGAACACAGAGAGTTT
TTGGTGATTGCTACTCTGAAAGCTGCCAGATCTTATTCTGGGGGTGGGATGTGGAGGAATACAC
ATACACACACAAACATACATGTATGTATAATAGATATATACATATGTGTATATTATATCTGTGT
GTGCATGTATCTCCAAAAGCGGCGTTACAGAGTTCTACACCAAAAGCCTTTAACCCTTAATCTG
CTGTGAATGATACCTGGCCTTTCTCACTATGAATTTCTGATTAACCAACCAGACTACACGTTGC
CTCTCTGTGTATGACTAACGGCTCCAACCCGATGACTCACAGCTACTTGCTTATCGTGAACAAG
CTCATCTTGGCAATGAATATGGATGTGAAAAGACAGAACAGCTTCACCATTAGTAGCTGGAAAT
GGTATCACAGTCTCTTATAGAGGAATATGAAAGGAACAAGAAAATCATTTTACATTCCTTTTAT
CTGTATTGTGCTTTAAAAGATCCACATGGTAAATTTTTTATTTTGCTTTTATGTCAGTCATCAG
AACCAAAAAAATCCAGAAGAAAAAATTGCCAGTGTTTCCTTTGAAGATGAAGCTACTGGGGAAG
AAAACCTTATTAATACACTCCACACATTTGTTCATTCCTCAGCTGTTGGTGTTTTCTTGGGGTC
TTGACAAAGCTTGCTGGTCAGTGCACTTTTCAGGTGTCACGTTTTGCTGTTTGTATGTTTTTTC
TTCCCCTTACTTCCTTTGGAAAACAAACTCACACAGTGCCCCTACTCTGAGACCTGGGACTGAG
TGTTAATTATTTTTTCCTTGGGTATTTCTATCTGAGAGACTAGACCTAGTTAGGAGGCCTCTGT
ACTTCTCCAGATTGTACCTTTTTATGGGGATCTTTGAGGCTATGACCCAGGACTGATAGATATG
CCTTACGGAAGACAAAAGATAAAATGGTTCCTATATCCTAATGCAAACCAACACAGTTAAAAGA
GCAGATCTCTGGATAACTGCTCTCAACCTGCTTCTACAGTCTCCACAAACCGCATTCACCCTCT
CTCTTCATAGCTCAGACATGAAATTTGAGGGAGAAAACTGGAGATAATTGGGAGAAAATTGATG
AAGTTGGCTGCTTCCAGTAGATCAGATAATCCATGAATTTGTCTCCCATTGAGAATTTTATTTT
AAATTCTTTTAAACTCTTCGTTGTGTCTTTTGTGATGACAAATCAGGCATGACTAAAAGATGTA
CAGAGACTTACGAAGATGGTCACATTCAAGTTCCCTAATGCTCTTAGAACCTGAAGATGACCAT
GTGTAGTTTTCTTAAGACCTCTGAACCCCCATGGTGATGAAGACTTGAAGACATTTGCAGCTAT
CTGCTGCAGTCTGGTAGATTCATACTTATCTAAAGAAGTCAAAAAATTTATTCGTGCAAGTGCT
TGCAGGAAGCCAGTGCTTATTAGTAGTGACCCTGCTTCTATCAACGTTATTGAGACAACACATA
TTCTATTCTAAGGGAGAAAGAGGGAGGAAGAGAGGGAGGGAGGGAGGAAGAAGAGGGAGGGAGC
GAGGAAGGAAGATAGGAGATGGGTAGGGGGGTAAAGAGAAAAGGAGGGAGAAGGGAAGGAAGGA
AAGAAGAGAGGAAAGAAAGGAGGGAAGGAAAAAAGGGCCAAACTTTCTGATCTATGAACTTCTC
AGTTCAGCTGTCACATTATGAGAAGTAAATCAGAATTTTTTTAAGGAGAAGTCATTCTTAGCAC
TACAATAATTGTACCAGTAATTGAGGAAACCAAGACAATCTTCACCTGAATAATAGAGGGTCTG
AGAACTGTCAGCCTTTTGCCATTCAAAAACATTTATGTCCAACCTGAAAAAAAAGCATCAATAA
AACCTATCCCAAGCATTCAAAATAGTCCTTTCCAAATGTTATTTATTTTAAAGTCAATCAGCTC
TTTTAGAAACAGATTCTGGTCTGGCTGAAAACTCCCACAACAAATTTACTCATCCAGTGGCTAA
TATTTAATGCCCACCATGGGCAGAGCACACAAATCTTCAGATAAACAATACTGAATTGATTCAG
CACAGATTGTTCAGATTTGAATGACCAGGGAGTTGTATTTGCACATGCAAGAACACTAAGAATC
TCCCAGTCCTCAAACTAGAAACCTTTCAGCTACGATGAAAAAAAAAAAGGGGTCTTCATTTTTC
CAAGAGGGGGTGGAGGTGGGGATCACTTTTTAGCTAAAAGCTATCTCTCACTTCAAAATTCTTG
TCTTTTTCTTTGTGGACAAACACCAGTAGTCTATCACTTGGAGATCTTTTAATATCTCCCATCA
TTTAAAACATCCACGAGAGTTTGAAGATTTGTGTTGATTGCCAGATACAGAAGCCCCTTGAAAA
TAAGGAAAGGGTGGAGGAAGCATTTTTGTGTCCTATCCCTACTTATCGTAGCAGCTCTATAGAC
AAAAGGGACACTTACTGGTGAGCCTCTGGCCCTTAAAAGAAAATCATCTAAGAATATGAAGGCA
ATTTGATTTCCCCCCACAGCCCTCAGCTGCCTTCCTCACAGAAGGAAGTTCCCAAAATTGCTGG
TACACAGTTTGCAATCAAATATCAGATATGAGAAAACCTGTAGTGAAGAGTCTGGGTTCTTGGT
TTTCTCATAAATCCAATATAAATTTGTAGGTTGGTTCAGGGTCAAAATTGCCAGTGCTTTATTA
GACAGATGATACTGATAGACACACAGAGCCCAGGTCCTGGAACAAGACAATCCTGTAGTGCCAA
GATCTGGTCAGTTGCGTTAAGGAGCTGGGTTTGATTCTAGAGTCCAGGTTTATAGAGAAACCCT
GGCTAGATTGAGCCTACCCATGGGGAGACGATTTCAAGACAGGATGAGATCTGGGAAGAATTTT
GTTGTCATCTGCCAGGGAAATTATCACAGGACTCATTGAATGCAATAACATGTGAGTAAGTTCC
CTTTTGATTCTGGGAATCAGCGATTTTCCCTGTGGATTAAGACAAACCAACGCCAGAAGGTCTC
CTGTGCTTATTTTAACCATCTGCTCCCATCGTGAACCCTGGAGCATGCATTTCCTAGAAGTGGT
TTCATAGCTCCTGTGTGTTCATGGAAAAGGGGAGTATAATGATGGGGATGCTGGAAGCTTTTTT
AATGTTTTCCAAAGGAAAGGAACCCACACTGCTCCCCAGAGTTCCTTTCCAATGGCCCTGCAGT
AAGAACGGAGGACAATGTATTGCTGGGTGCTTAAAATCCTCCCTCAGTGAAGCACAAAGAGACA
CTTTGTAAAGAAAAAAAGAGCAAGCATAGGTTCTCTGTGGGACCTTGTGGAGTGGTGTTTTCAC
GTTGGTCTCTTTGGCTCAATTGAGCATAATCAGAAAGAAATGTGGGTTATTGGGAAGAGACAAA
AAGCAGTGGCTAAAATACCAAAGTTGGCATGTGTTCTTTTTTAAAAAAAAAAAAAAATGCATAT
ATTTTTAAATAAAATGTTTATTTTAAAAAGAAA

hide sequence

RefSeq Acc Id:

NM_153604 ⟹ NP_705832

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	12,665,890 - 12,768,949 (+)	NCBI
GRCh37	17	12,569,207 - 12,672,266 (+)	NCBI
Build 36	17	12,510,231 - 12,607,686 (+)	NCBI Archive
HuRef	17	12,464,600 - 12,567,695 (+)	NCBI
CHM1_1	17	12,577,982 - 12,681,021 (+)	NCBI
T2T-CHM13v2.0	17	12,573,362 - 12,676,444 (+)	NCBI

Sequence:

show sequence

AATCGCCGGCAGCCTATGACATCAGACAGGAACGCCTGGGATGCCGCGCTGCTCCTGGCCAACC
TCCGAGGAGGAGGAGGGTCCCGCCGGCTAAGAGTTAATTAGCCCCGCACGGCGAGGGGGGAGGC
GCCAGTTTTCTGGGGACACTGGCTGCCACTGTACTCCTACCCAGGGGAGCTCACGGAGAGTTGG
ATGAATTCTGGGTTGTTAGCTGCGGTCAGCTGGGCTCCCGGGAGCCTGTTGCTGGTGGAGAACA
GGGGGCGCCTGGCCAAGGGACCAGCGGCTTGCTGAGACTCAACATGACACTCCTGGGGTCTGAG
CATTCCTTGCTGATTAGGAGCAAGTTCAGATCAGTTTTACAGTTAAGACTTCAACAAAGAAGGA
CCCAGGAACAACTGGCTAACCAAGGCATAATACCACCACTGAAACGTCCAGCTGAATTCCATGA
GCAAAGAAAACATTTGGATAGTGACAAGGCTAAAAATTCCCTGAAGCGCAAAGCCAGAAACAGG
TGCAACAGTGCCGACTTGGTTAATATGCACATACTCCAAGCTTCCACTGCAGAGAGGTCCATTC
CAACTGCTCAGATGAAGCTGAAAAGAGCCCGACTCGCCGATGATCTCAATGAAAAAATTGCTCT
ACGACCAGGGCCACTGGAGCTGGTGGAAAAAAACATTCTTCCTGTGGATTCTGCTGTGAAAGAG
GCCATAAAAGGTAACCAGGTGAGTTTCTCCAAATCCACGGATGCTTTTGCCTTTGAAGAGGACA
GCAGCAGCGATGGGCTTTCTCCGGATCAGACTCGAAGTGAAGACCCCCAAAACTCAGCGGGATC
CCCGCCAGACGCTAAAGCCTCAGATACCCCTTCGACAGGTTCTCTGGGGACAAACCAGGATCTT
GCTTCTGGCTCAGAAAATGACAGAAATGACTCAGCCTCACAGCCCAGCCACCAGTCAGATGCGG
GGAAGCAGGGGCTTGGCCCCCCCAGCACCCCCATAGCCGTGCATGCTGCTGTAAAGTCCAAATC
CTTGGGTGACAGTAAGAACCGCCACAAAAAGCCCAAGGACCCCAAGCCAAAGGTGAAGAAGCTT
AAATATCACCAGTACATTCCCCCAGACCAGAAGGCAGAGAAGTCCCCTCCACCTATGGACTCAG
CCTACGCTCGGCTGCTCCAGCAACAGCAGCTGTTCCTGCAGCTCCAAATCCTCAGCCAGCAGCA
GCAGCAGCAGCAACACCGATTCAGCTACCTAGGGATGCACCAAGCTCAGCTTAAGGAACCAAAT
GAACAGATGGTCAGAAATCCAAACTCTTCTTCAACGCCACTGAGCAATACCCCCTTGTCTCCTG
TCAAAAACAGTTTTTCTGGACAAACTGGTGTCTCTTCTTTCAAACCAGGCCCACTCCCACCTAA
CCTGGATGATCTGAAGGTCTCTGAATTAAGACAACAGCTTCGAATTCGGGGCTTGCCTGTGTCA
GGCACCAAAACGGCTCTCATGGACCGGCTTCGACCCTTCCAGGACTGCTCTGGCAACCCAGTGC
CGAACTTTGGGGATATAACGACTGTCACTTTTCCTGTCACACCCAACACGCTGCCCAATTACCA
GTCTTCCTCTTCTACCAGTGCCCTGTCCAACGGCTTCTACCACTTTGGCAGCACCAGCTCCAGC
CCCCCGATCTCCCCAGCCTCCTCTGACCTGTCAGTCGCTGGGTCCCTGCCGGACACCTTCAATG
ATGCCTCCCCCTCCTTCGGCCTGCACCCGTCCCCAGTCCACGTGTGCACGGAGGAAAGTCTCAT
GAGCAGCCTGAATGGGGGCTCTGTTCCTTCTGAGCTGGATGGGCTGGACTCCGAGAAGGACAAG
ATGCTGGTGGAGAAGCAGAAGGTGATCAATGAACTCACCTGGAAACTCCAGCAAGAGCAGAGGC
AGGTGGAGGAGCTGAGGATGCAGCTTCAGAAGCAGAAAAGGAATAACTGTTCAGAGAAGAAGCC
GCTGCCTTTCCTGGCTGCCTCCATCAAGCAGGAAGAGGCTGTCTCCAGCTGTCCTTTTGCATCC
CAAGTACCTGTGAAAAGACAAAGCAGCAGCTCAGAGTGTCACCCACCGGCTTGTGAAGCTGCTC
AACTCCAGCCTCTTGGAAATGCTCATTGTGTGGAGTCCTCAGATCAAACCAATGTACTTTCTTC
CACATTTCTCAGCCCCCAGTGTTCCCCTCAGCATTCACCGCTGGGGGCTGTGAAAAGCCCACAG
CACATCAGTTTGCCCCCATCACCCAACAACCCTCACTTTCTGCCCTCATCCTCCGGGGCCCAGG
GAGAAGGGCACAGGGTCTCCTCGCCCATCAGCAGCCAGGTGTGCACTGCACAGATGGCTGGTTT
ACACTCTTCTGATAAGGTGGGGCCAAAGTTTTCAATTCCATCCCCAACTTTTTCTAAGTCAAGT
TCAGCAATTTCAGAGGTAACACAGCCTCCATCCTATGAAGATGCCGTAAAGCAGCAAATGACCC
GGAGTCAGCAGATGGATGAACTCCTGGACGTGCTTATTGAAAGCGGAGAAATGCCAGCAGACGC
TAGAGAGGATCACTCATGTCTTCAAAAAGTCCCAAAGATACCCAGATCTTCCCGAAGTCCAACT
GCTGTCCTCACCAAGCCCTCGGCTTCCTTTGAACAAGCCTCTTCAGGCAGCCAGATCCCCTTTG
ATCCCTATGCCACCGACAGTGATGAGCATCTTGAAGTCTTATTAAATTCCCAGAGCCCCCTAGG
AAAGATGAGTGATGTCACCCTTCTAAAAATTGGGAGCGAAGAGCCTCACTTTGATGGGATAATG
GATGGATTCTCTGGGAAGGCTGCAGAAGACCTCTTCAATGCACATGAGATCTTGCCAGGCCCCC
TCTCTCCAATGCAGACACAGTTTTCACCCTCTTCTGTGGACAGCAATGGGCTGCAGTTAAGCTT
CACTGAATCTCCCTGGGAAACCATGGAGTGGCTGGACCTCACTCCGCCAAATTCCACACCAGGC
TTTAGCGCCCTCACCACCAGCAGCCCCAGCATCTTCAACATCGATTTCCTGGATGTCACTGATC
TCAATTTGAATTCTTCCATGGACCTTCACTTGCAGCAGTGGTAGAATGCCCAATGCACCAGTGC
TATGGAAGACCAATGGAGTTCCATGGGGGAAAGCACACAGCCATACATACTTTACTGTCCAAAA
ACAGAAGAAGAAGAAGAGAATTAAAAAGAAGCAATGATTTCTGTGCCAATGAACAAGAACAAAA
GTCATTTTTAGAAATACATATACTGTAATATTTACCAACAGTCAGTAACTGTTAATGATTTCAA
CAATGCATTAAAAGAATGTGCTTTCTCAGATTAAGGATGCCAAAAAAGATATTTCACTGCCTTT
TCAAAGACCAGTATATTTTCTAGCCCATAATTTTTCTCAGGCATTGTTGGGGCATAAGCTCACA
CTGTAAGCTTTTCTCATGAATTCACTAGACATAACGTGGAAGGAAAACGTAGTCTTTTGGGAGT
ACAGGGAAGCCAGCCCCTCAAAGCTTATGGAAGACATACCTGCAATGGAAGCTGTTGCCCAATG
TCTCCATTACTATCTTTCAAAAGAGAAGCCAGACCCAGCTTCAGATCAAAAGTTCTTGAGACAG
AGGAACAAAACCAATCGATTTCCAGGGAAGCTAATCAACTCTCTTTTCCCTCTACCACAAAACT
GCCCTGCTGGAGTGGTTCTGAACCTGTACCCAGGACTCGATGTGGTCACTAATAACAATTAACC
TGAACTGAGTCCACAGAACTCCACTCGGAACTTTCTTCTTTTTTAACTAGTGGCCCAATCATTC
CCACCATCTCTGTGCTGATAAGTACGTGTCCTAGATGAGAACCCTGAAGAATGCAGACCTTCTT
CCCCCGAAGGAGATGCCACAAGCTCTCCAACACAGCCCCCTTTAGTTCCAAAGACTAGAGATGA
CCACATTGGTAGAAGTATATCTCGAGGCACAGGAAGGGAGCCCCACCAGGGATAATTCAGACAG
GACTAGAGAATAACATCATTTCACATACCCTGGGATAAACACCCTGGGTTCCTATAGAAGGACT
ATTACTTATGGGAGTCCAACTTCTCCTTTTGTTTTGTTATTATCAGTTTATCTTTCTCCCACTC
CACTTTTCCTTCAAGGTACCAATCCTTTCCTGTTCCTCGTTTGGCCATCTTTCTTTTTCTGCCT
CCACATTGGGAGGGGAGGACTTCTCAGTTCTAACAAGCTGCCATACTCCTAAGAAAGCCATTTT
TGAAAAATTTAACAATCCAGGTTCTTCTGGAGAACTCATTCTCCACACGCACAGTTTGCTGCAA
AAGGAAGTTGCAAGAATTTCTTGAGGAAGAAACTGGTGACTTGGTCCATCAGTCACGAAGTTCT
TTCTATTCTCGTTTAGTTTTCAAGAAATTATTGGTTTGTGTTGCTCTGGGGAAATTGGAAATCA
TTACATTGTAAAGACAAATATGGATGATATTTACAAGAGAGAATTTCAGATCTGGGTTTTTGAA
AGAAAACAGAATTGCGCATTGAAAACGATGGAAGGAAAAAGACAATGGTCTAATGTGCATTCCT
CATTACCTCTCGTGGCTTTGGCTGGGAGTTGGAAAAAGCTAAAATTTCAGAACAGTCTCTGTAA
GGCTCTCTGTGGCTCCAGTTCACCATTTTATATTGTTGCATGCTGTAGAAAGGAGCTATTGCTG
TTGTTTTGTTTTTTTATTTAAATCACTAAGGCACTGTTTTTATCTTTTGTAAAAAAAAAAAAAA
AGTTGTTCACTGTGCACTTATAGAAAAAATAATCAAAAATGTTGGGATTTTAGAAGCTCTCTTT
TTGATAAACCAAAGATTTAGAAGTCATTCCATTGTTAACTTGTAAAAATGTGTGAACACAGAGA
GTTTTTGGTGATTGCTACTCTGAAAGCTGCCAGATCTTATTCTGGGGGTGGGATGTGGAGGAAT
ACACATACACACACAAACATACATGTATGTATAATAGATATATACATATGTGTATATTATATCT
GTGTGTGCATGTATCTCCAAAAGCGGCGTTACAGAGTTCTACACCAAAAGCCTTTAACCCTTAA
TCTGCTGTGAATGATACCTGGCCTTTCTCACTATGAATTTCTGATTAACCAACCAGACTACACG
TTGCCTCTCTGTGTATGACTAACGGCTCCAACCCGATGACTCACAGCTACTTGCTTATCGTGAA
CAAGCTCATCTTGGCAATGAATATGGATGTGAAAAGACAGAACAGCTTCACCATTAGTAGCTGG
AAATGGTATCACAGTCTCTTATAGAGGAATATGAAAGGAACAAGAAAATCATTTTACATTCCTT
TTATCTGTATTGTGCTTTAAAAGATCCACATGGTAAATTTTTTATTTTGCTTTTATGTCAGTCA
TCAGAACCAAAAAAATCCAGAAGAAAAAATTGCCAGTGTTTCCTTTGAAGATGAAGCTACTGGG
GAAGAAAACCTTATTAATACACTCCACACATTTGTTCATTCCTCAGCTGTTGGTGTTTTCTTGG
GGTCTTGACAAAGCTTGCTGGTCAGTGCACTTTTCAGGTGTCACGTTTTGCTGTTTGTATGTTT
TTTCTTCCCCTTACTTCCTTTGGAAAACAAACTCACACAGTGCCCCTACTCTGAGACCTGGGAC
TGAGTGTTAATTATTTTTTCCTTGGGTATTTCTATCTGAGAGACTAGACCTAGTTAGGAGGCCT
CTGTACTTCTCCAGATTGTACCTTTTTATGGGGATCTTTGAGGCTATGACCCAGGACTGATAGA
TATGCCTTACGGAAGACAAAAGATAAAATGGTTCCTATATCCTAATGCAAACCAACACAGTTAA
AAGAGCAGATCTCTGGATAACTGCTCTCAACCTGCTTCTACAGTCTCCACAAACCGCATTCACC
CTCTCTCTTCATAGCTCAGACATGAAATTTGAGGGAGAAAACTGGAGATAATTGGGAGAAAATT
GATGAAGTTGGCTGCTTCCAGTAGATCAGATAATCCATGAATTTGTCTCCCATTGAGAATTTTA
TTTTAAATTCTTTTAAACTCTTCGTTGTGTCTTTTGTGATGACAAATCAGGCATGACTAAAAGA
TGTACAGAGACTTACGAAGATGGTCACATTCAAGTTCCCTAATGCTCTTAGAACCTGAAGATGA
CCATGTGTAGTTTTCTTAAGACCTCTGAACCCCCATGGTGATGAAGACTTGAAGACATTTGCAG
CTATCTGCTGCAGTCTGGTAGATTCATACTTATCTAAAGAAGTCAAAAAATTTATTCGTGCAAG
TGCTTGCAGGAAGCCAGTGCTTATTAGTAGTGACCCTGCTTCTATCAACGTTATTGAGACAACA
CATATTCTATTCTAAGGGAGAAAGAGGGAGGAAGAGAGGGAGGGAGGGAGGAAGAAGAGGGAGG
GAGCGAGGAAGGAAGATAGGAGATGGGTAGGGGGGTAAAGAGAAAAGGAGGGAGAAGGGAAGGA
AGGAAAGAAGAGAGGAAAGAAAGGAGGGAAGGAAAAAAGGGCCAAACTTTCTGATCTATGAACT
TCTCAGTTCAGCTGTCACATTATGAGAAGTAAATCAGAATTTTTTTAAGGAGAAGTCATTCTTA
GCACTACAATAATTGTACCAGTAATTGAGGAAACCAAGACAATCTTCACCTGAATAATAGAGGG
TCTGAGAACTGTCAGCCTTTTGCCATTCAAAAACATTTATGTCCAACCTGAAAAAAAAGCATCA
ATAAAACCTATCCCAAGCATTCAAAATAGTCCTTTCCAAATGTTATTTATTTTAAAGTCAATCA
GCTCTTTTAGAAACAGATTCTGGTCTGGCTGAAAACTCCCACAACAAATTTACTCATCCAGTGG
CTAATATTTAATGCCCACCATGGGCAGAGCACACAAATCTTCAGATAAACAATACTGAATTGAT
TCAGCACAGATTGTTCAGATTTGAATGACCAGGGAGTTGTATTTGCACATGCAAGAACACTAAG
AATCTCCCAGTCCTCAAACTAGAAACCTTTCAGCTACGATGAAAAAAAAAAAGGGGTCTTCATT
TTTCCAAGAGGGGGTGGAGGTGGGGATCACTTTTTAGCTAAAAGCTATCTCTCACTTCAAAATT
CTTGTCTTTTTCTTTGTGGACAAACACCAGTAGTCTATCACTTGGAGATCTTTTAATATCTCCC
ATCATTTAAAACATCCACGAGAGTTTGAAGATTTGTGTTGATTGCCAGATACAGAAGCCCCTTG
AAAATAAGGAAAGGGTGGAGGAAGCATTTTTGTGTCCTATCCCTACTTATCGTAGCAGCTCTAT
AGACAAAAGGGACACTTACTGGTGAGCCTCTGGCCCTTAAAAGAAAATCATCTAAGAATATGAA
GGCAATTTGATTTCCCCCCACAGCCCTCAGCTGCCTTCCTCACAGAAGGAAGTTCCCAAAATTG
CTGGTACACAGTTTGCAATCAAATATCAGATATGAGAAAACCTGTAGTGAAGAGTCTGGGTTCT
TGGTTTTCTCATAAATCCAATATAAATTTGTAGGTTGGTTCAGGGTCAAAATTGCCAGTGCTTT
ATTAGACAGATGATACTGATAGACACACAGAGCCCAGGTCCTGGAACAAGACAATCCTGTAGTG
CCAAGATCTGGTCAGTTGCGTTAAGGAGCTGGGTTTGATTCTAGAGTCCAGGTTTATAGAGAAA
CCCTGGCTAGATTGAGCCTACCCATGGGGAGACGATTTCAAGACAGGATGAGATCTGGGAAGAA
TTTTGTTGTCATCTGCCAGGGAAATTATCACAGGACTCATTGAATGCAATAACATGTGAGTAAG
TTCCCTTTTGATTCTGGGAATCAGCGATTTTCCCTGTGGATTAAGACAAACCAACGCCAGAAGG
TCTCCTGTGCTTATTTTAACCATCTGCTCCCATCGTGAACCCTGGAGCATGCATTTCCTAGAAG
TGGTTTCATAGCTCCTGTGTGTTCATGGAAAAGGGGAGTATAATGATGGGGATGCTGGAAGCTT
TTTTAATGTTTTCCAAAGGAAAGGAACCCACACTGCTCCCCAGAGTTCCTTTCCAATGGCCCTG
CAGTAAGAACGGAGGACAATGTATTGCTGGGTGCTTAAAATCCTCCCTCAGTGAAGCACAAAGA
GACACTTTGTAAAGAAAAAAAGAGCAAGCATAGGTTCTCTGTGGGACCTTGTGGAGTGGTGTTT
TCACGTTGGTCTCTTTGGCTCAATTGAGCATAATCAGAAAGAAATGTGGGTTATTGGGAAGAGA
CAAAAAGCAGTGGCTAAAATACCAAAGTTGGCATGTGTTCTTTTTTAAAAAAAAAAAAAAATGC
ATATATTTTTAAATAAAATGTTTATTTTAAAAAGAAA

hide sequence

RefSeq Acc Id:

XM_005256863 ⟹ XP_005256920

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	12,665,890 - 12,768,949 (+)	NCBI
GRCh37	17	12,569,207 - 12,672,266 (+)	NCBI

Sequence:

show sequence

AATCGCCGGCAGCCTATGACATCAGACAGGAACGCCTGGGATGCCGCGCTGCTCCTGGCCAACC
TCCGAGGAGGAGGAGGGTCCCGCCGGCTAAGAGTTAATTAGCCCCGCACGGCGAGGGGGGAGGC
GCCAGTTTTCTGGGGACACTGGCTGCCACTGTACTCCTACCCAGGGGAGCTCACGGAGAGTTGG
ATGAATTCTGGGTTGTTAGCTGCGGTCAGCTGGGCTCCCGGGAGCCTGTTGCTGGTGGAGAACA
GGGGGCGCCTGGCCAAGGGACCAGCGGCTTGCTGAGACTCAACATGACACTCCTGGGGTCTGAG
CATTCCTTGCTGATTAGGAGCAAGTTCAGATCAGTTTTACAGTTAAGACTTCAACAAAGAAGGA
CCCAGGAACAACTGGCTAACCAAGGCATAATACCACCACTGAAACGTCCAGCTGAATTCCATGA
GCAAAGAAAACATTTGGATAGTGACAAGGCTAAAAATTCCCTGAAGCGCAAAGCCAGAAACAGG
TGCAACAGTGCCGACTTGGTTAATATGCACATACTCCAAGCTTCCACTGCAGAGAGGTCCATTC
CAACTGCTCAGATGAAGCTGAAAAGAGCCCGACTCGCCGATGATCTCAATGAAAAAATTGCTCT
ACGACCAGGGCCACTGGAGCTGGTGGAAAAAAACATTCTTCCTGTGGATTCTGCTGTGAAAGAG
GCCATAAAAGGTAACCAGGTGAGTTTCTCCAAATCCACGGATGCTTTTGCCTTTGAAGAGGACA
GCAGCAGCGATGGGCTTTCTCCGGATCAGACTCGAAGTGAAGACCCCCAAAACTCAGCGGGATC
CCCGCCAGACGCTAAAGCCTCAGATACCCCTTCGACAGGTTCTCTGGGGACAAACCAGGATCTT
GCTTCTGGCTCAGAAAATGACAGAAATGACTCAGCCTCACAGCCCAGCCACCAGTCAGATGCGG
GGAAGCAGGGGCTTGGCCCCCCCAGCACCCCCATAGCCGTGCATGCTGCTGTAAAGTCCAAATC
CTTGGGTGACAGTAAGAACCGCCACAAAAAGCCCAAGGACCCCAAGCCAAAGGTGAAGAAGCTT
AAATATCACCAGTACATTCCCCCAGACCAGAAGGCAGAGAAGTCCCCTCCACCTATGGACTCAG
CCTACGCTCGGCTGCTCCAGCAACAGCAGCTGTTCCTGCAGCTCCAAATCCTCAGCCAGCAGCA
GCAGCAGCAGCAACACCGATTCAGCTACCTAGGGATGCACCAAGCTCAGCTTAAGGAACCAAAT
GAACAGATGGTCAGAAATCCAAACTCTTCTTCAACGCCACTGAGCAATACCCCCTTGTCTCCTG
TCAAAAACAGTTTTTCTGGACAAACTGGTGTCTCTTCTTTCAAACCAGGCCCACTCCCACCTAA
CCTGGATGATCTGAAGGTCTCTGAATTAAGACAACAGCTTCGAATTCGGGGCTTGCCTGTGTCA
GGCACCAAAACGGCTCTCATGGACCGGCTTCGACCCTTCCAGGACTGCTCTGGCAACCCAGTGC
CGAACTTTGGGGATATAACGACTGTCACTTTTCCTGTCACACCCAACACGCTGCCCAATTACCA
GTCTTCCTCTTCTACCAGTGCCCTGTCCAACGGCTTCTACCACTTTGGCAGCACCAGCTCCAGC
CCCCCGATCTCCCCAGCCTCCTCTGACCTGTCAGTCGCTGGGTCCCTGCCGGACACCTTCAATG
ATGCCTCCCCCTCCTTCGGCCTGCACCCGTCCCCAGTCCACGTGTGCACGGAGGAAAGTCTCAT
GAGCAGCCTGAATGGGGGCTCTGTTCCTTCTGAGCTGGATGGGCTGGACTCCGAGAAGGACAAG
ATGCTGGTGGAGAAGCAGAAGGTGATCAATGAACTCACCTGGAAACTCCAGCAAGAGCAGAGGC
AGGTGGAGGAGCTGAGGATGCAGCTTCAGAAGCAGAAAAGGAATAACTGTTCAGAGAAGAAGCC
GCTGCCTTTCCTGGCTGCCTCCATCAAGCAGGAAGAGGCTGTCTCCAGCTGTCCTTTTGCATCC
CAAGTACCTGTGAAAAGACAAAGCAGCAGCTCAGAGTGTCACCCACCGGCTTGTGAAGCTGCTC
AACTCCAGCCTCTTGGAAATGCTCATTGTGTGGAGTCCTCAGATCAAACCAATGTACTTTCTTC
CACATTTCTCAGCCCCCAGTGTTCCCCTCAGCATTCACCGCTGGGGGCTGTGAAAAGCCCACAG
CACATCAGTTTGCCCCCATCACCCAACAACCCTCACTTTCTGCCCTCATCCTCCGGGGCCCAGG
GAGAAGGGCACAGGGTCTCCTCGCCCATCAGCAGCCAGGTGTGCACTGCACAGAACTCAGGAGC
ACACGATGGCCATCCTCCAAGCTTCTCTCCCCATTCTTCCAGCCTCCACCCGCCCTTCTCTGGA
GCCCAAGCAGACAGCAGTCATGGTGCCGGGGGAAACCCTTGTCCCAAAAGCCCATGTGTACAGC
AAAAGCAAATGACCCGGAGTCAGCAGATGGATGAACTCCTGGACGTGCTTATTGAAAGCGGAGA
AATGCCAGCAGACGCTAGAGAGGATCACTCATGTCTTCAAAAAGTCCCAAAGATACCCAGATCT
TCCCGAAGTCCAACTGCTGTCCTCACCAAGCCCTCGGCTTCCTTTGAACAAGCCTCTTCAGGCA
GCCAGATCCCCTTTGATCCCTATGCCACCGACAGTGATGAGCATCTTGAAGTCTTATTAAATTC
CCAGAGCCCCCTAGGAAAGATGAGTGATGTCACCCTTCTAAAAATTGGGAGCGAAGAGCCTCAC
TTTGATGGGATAATGGATGGATTCTCTGGGAAGGCTGCAGAAGACCTCTTCAATGCACATGAGA
TCTTGCCAGGCCCCCTCTCTCCAATGCAGACACAGTTTTCACCCTCTTCTGTGGACAGCAATGG
GCTGCAGTTAAGCTTCACTGAATCTCCCTGGGAAACCATGGAGTGGCTGGACCTCACTCCGCCA
AATTCCACACCAGGCTTTAGCGCCCTCACCACCAGCAGCCCCAGCATCTTCAACATCGATTTCC
TGGATGTCACTGATCTCAATTTGAATTCTTCCATGGACCTTCACTTGCAGCAGTGGTAGAATGC
CCAATGCACCAGTGCTATGGAAGACCAATGGAGTTCCATGGGGGAAAGCACACAGCCATACATA
CTTTACTGTCCAAAAACAGAAGAAGAAGAAGAGAATTAAAAAGAAGCAATGATTTCTGTGCCAA
TGAACAAGAACAAAAGTCATTTTTAGAAATACATATACTGTAATATTTACCAACAGTCAGTAAC
TGTTAATGATTTCAACAATGCATTAAAAGAATGTGCTTTCTCAGATTAAGGATGCCAAAAAAGA
TATTTCACTGCCTTTTCAAAGACCAGTATATTTTCTAGCCCATAATTTTTCTCAGGCATTGTTG
GGGCATAAGCTCACACTGTAAGCTTTTCTCATGAATTCACTAGACATAACGTGGAAGGAAAACG
TAGTCTTTTGGGAGTACAGGGAAGCCAGCCCCTCAAAGCTTATGGAAGACATACCTGCAATGGA
AGCTGTTGCCCAATGTCTCCATTACTATCTTTCAAAAGAGAAGCCAGACCCAGCTTCAGATCAA
AAGTTCTTGAGACAGAGGAACAAAACCAATCGATTTCCAGGGAAGCTAATCAACTCTCTTTTCC
CTCTACCACAAAACTGCCCTGCTGGAGTGGTTCTGAACCTGTACCCAGGACTCGATGTGGTCAC
TAATAACAATTAACCTGAACTGAGTCCACAGAACTCCACTCGGAACTTTCTTCTTTTTTAACTA
GTGGCCCAATCATTCCCACCATCTCTGTGCTGATAAGTACGTGTCCTAGATGAGAACCCTGAAG
AATGCAGACCTTCTTCCCCCGAAGGAGATGCCACAAGCTCTCCAACACAGCCCCCTTTAGTTCC
AAAGACTAGAGATGACCACATTGGTAGAAGTATATCTCGAGGCACAGGAAGGGAGCCCCACCAG
GGATAATTCAGACAGGACTAGAGAATAACATCATTTCACATACCCTGGGATAAACACCCTGGGT
TCCTATAGAAGGACTATTACTTATGGGAGTCCAACTTCTCCTTTTGTTTTGTTATTATCAGTTT
ATCTTTCTCCCACTCCACTTTTCCTTCAAGGTACCAATCCTTTCCTGTTCCTCGTTTGGCCATC
TTTCTTTTTCTGCCTCCACATTGGGAGGGGAGGACTTCTCAGTTCTAACAAGCTGCCATACTCC
TAAGAAAGCCATTTTTGAAAAATTTAACAATCCAGGTTCTTCTGGAGAACTCATTCTCCACACG
CACAGTTTGCTGCAAAAGGAAGTTGCAAGAATTTCTTGAGGAAGAAACTGGTGACTTGGTCCAT
CAGTCACGAAGTTCTTTCTATTCTCGTTTAGTTTTCAAGAAATTATTGGTTTGTGTTGCTCTGG
GGAAATTGGAAATCATTACATTGTAAAGACAAATATGGATGATATTTACAAGAGAGAATTTCAG
ATCTGGGTTTTTGAAAGAAAACAGAATTGCGCATTGAAAACGATGGAAGGAAAAAGACAATGGT
CTAATGTGCATTCCTCATTACCTCTCGTGGCTTTGGCTGGGAGTTGGAAAAAGCTAAAATTTCA
GAACAGTCTCTGTAAGGCTCTCTGTGGCTCCAGTTCACCATTTTATATTGTTGCATGCTGTAGA
AAGGAGCTATTGCTGTTGTTTTGTTTTTTTATTTAAATCACTAAGGCACTGTTTTTATCTTTTG
TAAAAAAAAAAAAAAAGTTGTTCACTGTGCACTTATAGAAAAAATAATCAAAAATGTTGGGATT
TTAGAAGCTCTCTTTTTGATAAACCAAAGATTTAGAAGTCATTCCATTGTTAACTTGTAAAAAT
GTGTGAACACAGAGAGTTTTTGGTGATTGCTACTCTGAAAGCTGCCAGATCTTATTCTGGGGGT
GGGATGTGGAGGAATACACATACACACACAAACATACATGTATGTATAATAGATATATACATAT
GTGTATATTATATCTGTGTGTGCATGTATCTCCAAAAGCGGCGTTACAGAGTTCTACACCAAAA
GCCTTTAACCCTTAATCTGCTGTGAATGATACCTGGCCTTTCTCACTATGAATTTCTGATTAAC
CAACCAGACTACACGTTGCCTCTCTGTGTATGACTAACGGCTCCAACCCGATGACTCACAGCTA
CTTGCTTATCGTGAACAAGCTCATCTTGGCAATGAATATGGATGTGAAAAGACAGAACAGCTTC
ACCATTAGTAGCTGGAAATGGTATCACAGTCTCTTATAGAGGAATATGAAAGGAACAAGAAAAT
CATTTTACATTCCTTTTATCTGTATTGTGCTTTAAAAGATCCACATGGTAAATTTTTTATTTTG
CTTTTATGTCAGTCATCAGAACCAAAAAAATCCAGAAGAAAAAATTGCCAGTGTTTCCTTTGAA
GATGAAGCTACTGGGGAAGAAAACCTTATTAATACACTCCACACATTTGTTCATTCCTCAGCTG
TTGGTGTTTTCTTGGGGTCTTGACAAAGCTTGCTGGTCAGTGCACTTTTCAGGTGTCACGTTTT
GCTGTTTGTATGTTTTTTCTTCCCCTTACTTCCTTTGGAAAACAAACTCACACAGTGCCCCTAC
TCTGAGACCTGGGACTGAGTGTTAATTATTTTTTCCTTGGGTATTTCTATCTGAGAGACTAGAC
CTAGTTAGGAGGCCTCTGTACTTCTCCAGATTGTACCTTTTTATGGGGATCTTTGAGGCTATGA
CCCAGGACTGATAGATATGCCTTACGGAAGACAAAAGATAAAATGGTTCCTATATCCTAATGCA
AACCAACACAGTTAAAAGAGCAGATCTCTGGATAACTGCTCTCAACCTGCTTCTACAGTCTCCA
CAAACCGCATTCACCCTCTCTCTTCATAGCTCAGACATGAAATTTGAGGGAGAAAACTGGAGAT
AATTGGGAGAAAATTGATGAAGTTGGCTGCTTCCAGTAGATCAGATAATCCATGAATTTGTCTC
CCATTGAGAATTTTATTTTAAATTCTTTTAAACTCTTCGTTGTGTCTTTTGTGATGACAAATCA
GGCATGACTAAAAGATGTACAGAGACTTACGAAGATGGTCACATTCAAGTTCCCTAATGCTCTT
AGAACCTGAAGATGACCATGTGTAGTTTTCTTAAGACCTCTGAACCCCCATGGTGATGAAGACT
TGAAGACATTTGCAGCTATCTGCTGCAGTCTGGTAGATTCATACTTATCTAAAGAAGTCAAAAA
ATTTATTCGTGCAAGTGCTTGCAGGAAGCCAGTGCTTATTAGTAGTGACCCTGCTTCTATCAAC
GTTATTGAGACAACACATATTCTATTCTAAGGGAGAAAGAGGGAGGAAGAGAGGGAGGGAGGGA
GGAAGAAGAGGGAGGGAGCGAGGAAGGAAGATAGGAGATGGGTAGGGGGGTAAAGAGAAAAGGA
GGGAGAAGGGAAGGAAGGAAAGAAGAGAGGAAAGAAAGGAGGGAAGGAAAAAAGGGCCAAACTT
TCTGATCTATGAACTTCTCAGTTCAGCTGTCACATTATGAGAAGTAAATCAGAATTTTTTTAAG
GAGAAGTCATTCTTAGCACTACAATAATTGTACCAGTAATTGAGGAAACCAAGACAATCTTCAC
CTGAATAATAGAGGGTCTGAGAACTGTCAGCCTTTTGCCATTCAAAAACATTTATGTCCAACCT
GAAAAAAAAGCATCAATAAAACCTATCCCAAGCATTCAAAATAGTCCTTTCCAAATGTTATTTA
TTTTAAAGTCAATCAGCTCTTTTAGAAACAGATTCTGGTCTGGCTGAAAACTCCCACAACAAAT
TTACTCATCCAGTGGCTAATATTTAATGCCCACCATGGGCAGAGCACACAAATCTTCAGATAAA
CAATACTGAATTGATTCAGCACAGATTGTTCAGATTTGAATGACCAGGGAGTTGTATTTGCACA
TGCAAGAACACTAAGAATCTCCCAGTCCTCAAACTAGAAACCTTTCAGCTACGATGAAAAAAAA
AAAGGGGTCTTCATTTTTCCAAGAGGGGGTGGAGGTGGGGATCACTTTTTAGCTAAAAGCTATC
TCTCACTTCAAAATTCTTGTCTTTTTCTTTGTGGACAAACACCAGTAGTCTATCACTTGGAGAT
CTTTTAATATCTCCCATCATTTAAAACATCCACGAGAGTTTGAAGATTTGTGTTGATTGCCAGA
TACAGAAGCCCCTTGAAAATAAGGAAAGGGTGGAGGAAGCATTTTTGTGTCCTATCCCTACTTA
TCGTAGCAGCTCTATAGACAAAAGGGACACTTACTGGTGAGCCTCTGGCCCTTAAAAGAAAATC
ATCTAAGAATATGAAGGCAATTTGATTTCCCCCCACAGCCCTCAGCTGCCTTCCTCACAGAAGG
AAGTTCCCAAAATTGCTGGTACACAGTTTGCAATCAAATATCAGATATGAGAAAACCTGTAGTG
AAGAGTCTGGGTTCTTGGTTTTCTCATAAATCCAATATAAATTTGTAGGTTGGTTCAGGGTCAA
AATTGCCAGTGCTTTATTAGACAGATGATACTGATAGACACACAGAGCCCAGGTCCTGGAACAA
GACAATCCTGTAGTGCCAAGATCTGGTCAGTTGCGTTAAGGAGCTGGGTTTGATTCTAGAGTCC
AGGTTTATAGAGAAACCCTGGCTAGATTGAGCCTACCCATGGGGAGACGATTTCAAGACAGGAT
GAGATCTGGGAAGAATTTTGTTGTCATCTGCCAGGGAAATTATCACAGGACTCATTGAATGCAA
TAACATGTGAGTAAGTTCCCTTTTGATTCTGGGAATCAGCGATTTTCCCTGTGGATTAAGACAA
ACCAACGCCAGAAGGTCTCCTGTGCTTATTTTAACCATCTGCTCCCATCGTGAACCCTGGAGCA
TGCATTTCCTAGAAGTGGTTTCATAGCTCCTGTGTGTTCATGGAAAAGGGGAGTATAATGATGG
GGATGCTGGAAGCTTTTTTAATGTTTTCCAAAGGAAAGGAACCCACACTGCTCCCCAGAGTTCC
TTTCCAATGGCCCTGCAGTAAGAACGGAGGACAATGTATTGCTGGGTGCTTAAAATCCTCCCTC
AGTGAAGCACAAAGAGACACTTTGTAAAGAAAAAAAGAGCAAGCATAGGTTCTCTGTGGGACCT
TGTGGAGTGGTGTTTTCACGTTGGTCTCTTTGGCTCAATTGAGCATAATCAGAAAGAAATGTGG
GTTATTGGGAAGAGACAAAAAGCAGTGGCTAAAATACCAAAGTTGGCATGTGTTCTTTTTTAAA
AAAAAAAAAAAATGCATATATTTTTAAATAAAATGTTTATTTTAAAAAGAAA

hide sequence

RefSeq Acc Id:

XM_017025342 ⟹ XP_016880831

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	12,665,890 - 12,768,949 (+)	NCBI

Sequence:

show sequence

AATCGCCGGCAGCCTATGACATCAGACAGGAACGCCTGGGATGCCGCGCTGCTCCTGGCCAACC
TCCGAGGAGGAGGAGGGTCCCGCCGGCTAAGAGTTAATTAGCCCCGCACGGCGAGGGGGGAGGC
GCCAGTTTTCTGGGGACACTGGCTGCCACTGTACTCCTACCCAGGGGAGCTCACGGAGAGTTGG
ATGAATTCTGGGTTGTTAGCTGCGGTCAGCTGGGCTCCCGGGAGCCTGTTGCTGGTGGAGAACA
GGGGGCGCCTGGCCAAGGGACCAGCGGCTTGCTGAGACTCAACATGACACTCCTGGGGTCTGAG
CATTCCTTGCTGATTAGGAGCAAGTTCAGATCAGTTTTACAGTTAAGACTTCAACAAAGAAGGA
CCCAGGAACAACTGGCTAACCAAGGCATAATACCACCACTGAAACGTCCAGCTGAATTCCATGA
GCAAAGAAAACATTTGGATAGTGACAAGGCTAAAAATTCCCTGAAGCGCAAAGCCAGAAACAGG
TGCAACAGTGCCGACTTGGTTAATATGCACATACTCCAAGCTTCCACTGCAGAGAGGTCCATTC
CAACTGCTCAGATGAAGCTGAAAAGAGCCCGACTCGCCGATGATCTCAATGAAAAAATTGCTCT
ACGACCAGGGCCACTGGAGCTGGTGGAAAAAAACATTCTTCCTGTGGATTCTGCTGTGAAAGAG
GCCATAAAAGGTAACCAGGTGAGTTTCTCCAAATCCACGGATGCTTTTGCCTTTGAAGAGGACA
GCAGCAGCGATGGGCTTTCTCCGGATCAGACTCGAAGTGAAGACCCCCAAAACTCAGCGGGATC
CCCGCCAGACGCTAAAGCCTCAGATACCCCTTCGACAGGTTCTCTGGGGACAAACCAGTCCAAA
TCCTTGGGTGACAGTAAGAACCGCCACAAAAAGCCCAAGGACCCCAAGCCAAAGGTGAAGAAGC
TTAAATATCACCAGTACATTCCCCCAGACCAGAAGGCAGAGAAGTCCCCTCCACCTATGGACTC
AGCCTACGCTCGGCTGCTCCAGCAACAGCAGCTGTTCCTGCAGCTCCAAATCCTCAGCCAGCAG
CAGCAGCAGCAGCAACACCGATTCAGCTACCTAGGGATGCACCAAGCTCAGCTTAAGGAACCAA
ATGAACAGATGGTCAGAAATCCAAACTCTTCTTCAACGCCACTGAGCAATACCCCCTTGTCTCC
TGTCAAAAACAGTTTTTCTGGACAAACTGGTGTCTCTTCTTTCAAACCAGGCCCACTCCCACCT
AACCTGGATGATCTGAAGGTCTCTGAATTAAGACAACAGCTTCGAATTCGGGGCTTGCCTGTGT
CAGGCACCAAAACGGCTCTCATGGACCGGCTTCGACCCTTCCAGGACTGCTCTGGCAACCCAGT
GCCGAACTTTGGGGATATAACGACTGTCACTTTTCCTGTCACACCCAACACGCTGCCCAATTAC
CAGTCTTCCTCTTCTACCAGTGCCCTGTCCAACGGCTTCTACCACTTTGGCAGCACCAGCTCCA
GCCCCCCGATCTCCCCAGCCTCCTCTGACCTGTCAGTCGCTGGGTCCCTGCCGGACACCTTCAA
TGATGCCTCCCCCTCCTTCGGCCTGCACCCGTCCCCAGTCCACGTGTGCACGGAGGAAAGTCTC
ATGAGCAGCCTGAATGGGGGCTCTGTTCCTTCTGAGCTGGATGGGCTGGACTCCGAGAAGGACA
AGATGCTGGTGGAGAAGCAGAAGGTGATCAATGAACTCACCTGGAAACTCCAGCAAGAGCAGAG
GCAGGTGGAGGAGCTGAGGATGCAGCTTCAGAAGCAGAAAAGGAATAACTGTTCAGAGAAGAAG
CCGCTGCCTTTCCTGGCTGCCTCCATCAAGCAGGAAGAGGCTGTCTCCAGCTGTCCTTTTGCAT
CCCAAGTACCTGTGAAAAGACAAAGCAGCAGCTCAGAGTGTCACCCACCGGCTTGTGAAGCTGC
TCAACTCCAGCCTCTTGGAAATGCTCATTGTGTGGAGTCCTCAGATCAAACCAATGTACTTTCT
TCCACATTTCTCAGCCCCCAGTGTTCCCCTCAGCATTCACCGCTGGGGGCTGTGAAAAGCCCAC
AGCACATCAGTTTGCCCCCATCACCCAACAACCCTCACTTTCTGCCCTCATCCTCCGGGGCCCA
GGGAGAAGGGCACAGGGTCTCCTCGCCCATCAGCAGCCAGGTGTGCACTGCACAGAACTCAGGA
GCACACGATGGCCATCCTCCAAGCTTCTCTCCCCATTCTTCCAGCCTCCACCCGCCCTTCTCTG
GAGCCCAAGCAGACAGCAGTCATGGTGCCGGGGGAAACCCTTGTCCCAAAAGCCCATGTGTACA
GCAAAAGATGGCTGGTTTACACTCTTCTGATAAGGTGGGGCCAAAGTTTTCAATTCCATCCCCA
ACTTTTTCTAAGTCAAGTTCAGCAATTTCAGAGGTAACACAGCCTCCATCCTATGAAGATGCCG
TAAAGCAGCAAATGACCCGGAGTCAGCAGATGGATGAACTCCTGGACGTGCTTATTGAAAGCGG
AGAAATGCCAGCAGACGCTAGAGAGGATCACTCATGTCTTCAAAAAGTCCCAAAGATACCCAGA
TCTTCCCGAAGTCCAACTGCTGTCCTCACCAAGCCCTCGGCTTCCTTTGAACAAGCCTCTTCAG
GCAGCCAGATCCCCTTTGATCCCTATGCCACCGACAGTGATGAGCATCTTGAAGTCTTATTAAA
TTCCCAGAGCCCCCTAGGAAAGATGAGTGATGTCACCCTTCTAAAAATTGGGAGCGAAGAGCCT
CACTTTGATGGGATAATGGATGGATTCTCTGGGAAGGCTGCAGAAGACCTCTTCAATGCACATG
AGATCTTGCCAGGCCCCCTCTCTCCAATGCAGACACAGTTTTCACCCTCTTCTGTGGACAGCAA
TGGGCTGCAGTTAAGCTTCACTGAATCTCCCTGGGAAACCATGGAGTGGCTGGACCTCACTCCG
CCAAATTCCACACCAGGCTTTAGCGCCCTCACCACCAGCAGCCCCAGCATCTTCAACATCGATT
TCCTGGATGTCACTGATCTCAATTTGAATTCTTCCATGGACCTTCACTTGCAGCAGTGGTAGAA
TGCCCAATGCACCAGTGCTATGGAAGACCAATGGAGTTCCATGGGGGAAAGCACACAGCCATAC
ATACTTTACTGTCCAAAAACAGAAGAAGAAGAAGAGAATTAAAAAGAAGCAATGATTTCTGTGC
CAATGAACAAGAACAAAAGTCATTTTTAGAAATACATATACTGTAATATTTACCAACAGTCAGT
AACTGTTAATGATTTCAACAATGCATTAAAAGAATGTGCTTTCTCAGATTAAGGATGCCAAAAA
AGATATTTCACTGCCTTTTCAAAGACCAGTATATTTTCTAGCCCATAATTTTTCTCAGGCATTG
TTGGGGCATAAGCTCACACTGTAAGCTTTTCTCATGAATTCACTAGACATAACGTGGAAGGAAA
ACGTAGTCTTTTGGGAGTACAGGGAAGCCAGCCCCTCAAAGCTTATGGAAGACATACCTGCAAT
GGAAGCTGTTGCCCAATGTCTCCATTACTATCTTTCAAAAGAGAAGCCAGACCCAGCTTCAGAT
CAAAAGTTCTTGAGACAGAGGAACAAAACCAATCGATTTCCAGGGAAGCTAATCAACTCTCTTT
TCCCTCTACCACAAAACTGCCCTGCTGGAGTGGTTCTGAACCTGTACCCAGGACTCGATGTGGT
CACTAATAACAATTAACCTGAACTGAGTCCACAGAACTCCACTCGGAACTTTCTTCTTTTTTAA
CTAGTGGCCCAATCATTCCCACCATCTCTGTGCTGATAAGTACGTGTCCTAGATGAGAACCCTG
AAGAATGCAGACCTTCTTCCCCCGAAGGAGATGCCACAAGCTCTCCAACACAGCCCCCTTTAGT
TCCAAAGACTAGAGATGACCACATTGGTAGAAGTATATCTCGAGGCACAGGAAGGGAGCCCCAC
CAGGGATAATTCAGACAGGACTAGAGAATAACATCATTTCACATACCCTGGGATAAACACCCTG
GGTTCCTATAGAAGGACTATTACTTATGGGAGTCCAACTTCTCCTTTTGTTTTGTTATTATCAG
TTTATCTTTCTCCCACTCCACTTTTCCTTCAAGGTACCAATCCTTTCCTGTTCCTCGTTTGGCC
ATCTTTCTTTTTCTGCCTCCACATTGGGAGGGGAGGACTTCTCAGTTCTAACAAGCTGCCATAC
TCCTAAGAAAGCCATTTTTGAAAAATTTAACAATCCAGGTTCTTCTGGAGAACTCATTCTCCAC
ACGCACAGTTTGCTGCAAAAGGAAGTTGCAAGAATTTCTTGAGGAAGAAACTGGTGACTTGGTC
CATCAGTCACGAAGTTCTTTCTATTCTCGTTTAGTTTTCAAGAAATTATTGGTTTGTGTTGCTC
TGGGGAAATTGGAAATCATTACATTGTAAAGACAAATATGGATGATATTTACAAGAGAGAATTT
CAGATCTGGGTTTTTGAAAGAAAACAGAATTGCGCATTGAAAACGATGGAAGGAAAAAGACAAT
GGTCTAATGTGCATTCCTCATTACCTCTCGTGGCTTTGGCTGGGAGTTGGAAAAAGCTAAAATT
TCAGAACAGTCTCTGTAAGGCTCTCTGTGGCTCCAGTTCACCATTTTATATTGTTGCATGCTGT
AGAAAGGAGCTATTGCTGTTGTTTTGTTTTTTTATTTAAATCACTAAGGCACTGTTTTTATCTT
TTGTAAAAAAAAAAAAAAAGTTGTTCACTGTGCACTTATAGAAAAAATAATCAAAAATGTTGGG
ATTTTAGAAGCTCTCTTTTTGATAAACCAAAGATTTAGAAGTCATTCCATTGTTAACTTGTAAA
AATGTGTGAACACAGAGAGTTTTTGGTGATTGCTACTCTGAAAGCTGCCAGATCTTATTCTGGG
GGTGGGATGTGGAGGAATACACATACACACACAAACATACATGTATGTATAATAGATATATACA
TATGTGTATATTATATCTGTGTGTGCATGTATCTCCAAAAGCGGCGTTACAGAGTTCTACACCA
AAAGCCTTTAACCCTTAATCTGCTGTGAATGATACCTGGCCTTTCTCACTATGAATTTCTGATT
AACCAACCAGACTACACGTTGCCTCTCTGTGTATGACTAACGGCTCCAACCCGATGACTCACAG
CTACTTGCTTATCGTGAACAAGCTCATCTTGGCAATGAATATGGATGTGAAAAGACAGAACAGC
TTCACCATTAGTAGCTGGAAATGGTATCACAGTCTCTTATAGAGGAATATGAAAGGAACAAGAA
AATCATTTTACATTCCTTTTATCTGTATTGTGCTTTAAAAGATCCACATGGTAAATTTTTTATT
TTGCTTTTATGTCAGTCATCAGAACCAAAAAAATCCAGAAGAAAAAATTGCCAGTGTTTCCTTT
GAAGATGAAGCTACTGGGGAAGAAAACCTTATTAATACACTCCACACATTTGTTCATTCCTCAG
CTGTTGGTGTTTTCTTGGGGTCTTGACAAAGCTTGCTGGTCAGTGCACTTTTCAGGTGTCACGT
TTTGCTGTTTGTATGTTTTTTCTTCCCCTTACTTCCTTTGGAAAACAAACTCACACAGTGCCCC
TACTCTGAGACCTGGGACTGAGTGTTAATTATTTTTTCCTTGGGTATTTCTATCTGAGAGACTA
GACCTAGTTAGGAGGCCTCTGTACTTCTCCAGATTGTACCTTTTTATGGGGATCTTTGAGGCTA
TGACCCAGGACTGATAGATATGCCTTACGGAAGACAAAAGATAAAATGGTTCCTATATCCTAAT
GCAAACCAACACAGTTAAAAGAGCAGATCTCTGGATAACTGCTCTCAACCTGCTTCTACAGTCT
CCACAAACCGCATTCACCCTCTCTCTTCATAGCTCAGACATGAAATTTGAGGGAGAAAACTGGA
GATAATTGGGAGAAAATTGATGAAGTTGGCTGCTTCCAGTAGATCAGATAATCCATGAATTTGT
CTCCCATTGAGAATTTTATTTTAAATTCTTTTAAACTCTTCGTTGTGTCTTTTGTGATGACAAA
TCAGGCATGACTAAAAGATGTACAGAGACTTACGAAGATGGTCACATTCAAGTTCCCTAATGCT
CTTAGAACCTGAAGATGACCATGTGTAGTTTTCTTAAGACCTCTGAACCCCCATGGTGATGAAG
ACTTGAAGACATTTGCAGCTATCTGCTGCAGTCTGGTAGATTCATACTTATCTAAAGAAGTCAA
AAAATTTATTCGTGCAAGTGCTTGCAGGAAGCCAGTGCTTATTAGTAGTGACCCTGCTTCTATC
AACGTTATTGAGACAACACATATTCTATTCTAAGGGAGAAAGAGGGAGGAAGAGAGGGAGGGAG
GGAGGAAGAAGAGGGAGGGAGCGAGGAAGGAAGATAGGAGATGGGTAGGGGGGTAAAGAGAAAA
GGAGGGAGAAGGGAAGGAAGGAAAGAAGAGAGGAAAGAAAGGAGGGAAGGAAAAAAGGGCCAAA
CTTTCTGATCTATGAACTTCTCAGTTCAGCTGTCACATTATGAGAAGTAAATCAGAATTTTTTT
AAGGAGAAGTCATTCTTAGCACTACAATAATTGTACCAGTAATTGAGGAAACCAAGACAATCTT
CACCTGAATAATAGAGGGTCTGAGAACTGTCAGCCTTTTGCCATTCAAAAACATTTATGTCCAA
CCTGAAAAAAAAGCATCAATAAAACCTATCCCAAGCATTCAAAATAGTCCTTTCCAAATGTTAT
TTATTTTAAAGTCAATCAGCTCTTTTAGAAACAGATTCTGGTCTGGCTGAAAACTCCCACAACA
AATTTACTCATCCAGTGGCTAATATTTAATGCCCACCATGGGCAGAGCACACAAATCTTCAGAT
AAACAATACTGAATTGATTCAGCACAGATTGTTCAGATTTGAATGACCAGGGAGTTGTATTTGC
ACATGCAAGAACACTAAGAATCTCCCAGTCCTCAAACTAGAAACCTTTCAGCTACGATGAAAAA
AAAAAAGGGGTCTTCATTTTTCCAAGAGGGGGTGGAGGTGGGGATCACTTTTTAGCTAAAAGCT
ATCTCTCACTTCAAAATTCTTGTCTTTTTCTTTGTGGACAAACACCAGTAGTCTATCACTTGGA
GATCTTTTAATATCTCCCATCATTTAAAACATCCACGAGAGTTTGAAGATTTGTGTTGATTGCC
AGATACAGAAGCCCCTTGAAAATAAGGAAAGGGTGGAGGAAGCATTTTTGTGTCCTATCCCTAC
TTATCGTAGCAGCTCTATAGACAAAAGGGACACTTACTGGTGAGCCTCTGGCCCTTAAAAGAAA
ATCATCTAAGAATATGAAGGCAATTTGATTTCCCCCCACAGCCCTCAGCTGCCTTCCTCACAGA
AGGAAGTTCCCAAAATTGCTGGTACACAGTTTGCAATCAAATATCAGATATGAGAAAACCTGTA
GTGAAGAGTCTGGGTTCTTGGTTTTCTCATAAATCCAATATAAATTTGTAGGTTGGTTCAGGGT
CAAAATTGCCAGTGCTTTATTAGACAGATGATACTGATAGACACACAGAGCCCAGGTCCTGGAA
CAAGACAATCCTGTAGTGCCAAGATCTGGTCAGTTGCGTTAAGGAGCTGGGTTTGATTCTAGAG
TCCAGGTTTATAGAGAAACCCTGGCTAGATTGAGCCTACCCATGGGGAGACGATTTCAAGACAG
GATGAGATCTGGGAAGAATTTTGTTGTCATCTGCCAGGGAAATTATCACAGGACTCATTGAATG
CAATAACATGTGAGTAAGTTCCCTTTTGATTCTGGGAATCAGCGATTTTCCCTGTGGATTAAGA
CAAACCAACGCCAGAAGGTCTCCTGTGCTTATTTTAACCATCTGCTCCCATCGTGAACCCTGGA
GCATGCATTTCCTAGAAGTGGTTTCATAGCTCCTGTGTGTTCATGGAAAAGGGGAGTATAATGA
TGGGGATGCTGGAAGCTTTTTTAATGTTTTCCAAAGGAAAGGAACCCACACTGCTCCCCAGAGT
TCCTTTCCAATGGCCCTGCAGTAAGAACGGAGGACAATGTATTGCTGGGTGCTTAAAATCCTCC
CTCAGTGAAGCACAAAGAGACACTTTGTAAAGAAAAAAAGAGCAAGCATAGGTTCTCTGTGGGA
CCTTGTGGAGTGGTGTTTTCACGTTGGTCTCTTTGGCTCAATTGAGCATAATCAGAAAGAAATG
TGGGTTATTGGGAAGAGACAAAAAGCAGTGGCTAAAATACCAAAGTTGGCATGTGTTCTTTTTT
AAAAAAAAAAAAAAATGCATATATTTTTAAATAAAATGTTTATTTTAAAAAGAAA

hide sequence

RefSeq Acc Id:

XM_054317820 ⟹ XP_054173795

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	12,573,362 - 12,676,444 (+)	NCBI

RefSeq Acc Id:

XM_054317821 ⟹ XP_054173796

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	12,573,362 - 12,676,444 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001139784	(Get FASTA)	NCBI Sequence Viewer
	NP_001365235	(Get FASTA)	NCBI Sequence Viewer
	NP_705832	(Get FASTA)	NCBI Sequence Viewer
	XP_005256920	(Get FASTA)	NCBI Sequence Viewer
	XP_016880831	(Get FASTA)	NCBI Sequence Viewer
	XP_054173795	(Get FASTA)	NCBI Sequence Viewer
	XP_054173796	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI26308	(Get FASTA)	NCBI Sequence Viewer
	AAI43392	(Get FASTA)	NCBI Sequence Viewer
	AAN33040	(Get FASTA)	NCBI Sequence Viewer
	AAV33439	(Get FASTA)	NCBI Sequence Viewer
	BAC05177	(Get FASTA)	NCBI Sequence Viewer
	BAF85574	(Get FASTA)	NCBI Sequence Viewer
	CAE45805	(Get FASTA)	NCBI Sequence Viewer
	EAW89970	(Get FASTA)	NCBI Sequence Viewer
	EAW89971	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000341835
	ENSP00000341835.4
	ENSP00000400148.2
	ENSP00000401678
	ENSP00000401678.1
	ENSP00000462694.1
GenBank Protein	Q8IZQ8	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001139784 ⟸ NM_001146312
- Peptide Label:	isoform 1
- UniProtKB:	Q8IZQ8 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MTLLGSEHSLLIRSKFRSVLQLRLQQRRTQEQLANQGIIPPLKRPAEFHEQRKHLDSDKAKNSL KRKARNRCNSADLVNMHILQASTAERSIPTAQMKLKRARLADDLNEKIALRPGPLELVEKNILP VDSAVKEAIKGNQVSFSKSTDAFAFEEDSSSDGLSPDQTRSEDPQNSAGSPPDAKASDTPSTGS LGTNQDLASGSENDRNDSASQPSHQSDAGKQGLGPPSTPIAVHAAVKSKSLGDSKNRHKKPKDP KPKVKKLKYHQYIPPDQKAEKSPPPMDSAYARLLQQQQLFLQLQILSQQQQQQQHRFSYLGMHQ AQLKEPNEQMVRNPNSSSTPLSNTPLSPVKNSFSGQTGVSSFKPGPLPPNLDDLKVSELRQQLR IRGLPVSGTKTALMDRLRPFQDCSGNPVPNFGDITTVTFPVTPNTLPNYQSSSSTSALSNGFYH FGSTSSSPPISPASSDLSVAGSLPDTFNDASPSFGLHPSPVHVCTEESLMSSLNGGSVPSELDG LDSEKDKMLVEKQKVINELTWKLQQEQRQVEELRMQLQKQKRNNCSEKKPLPFLAASIKQEEAV SSCPFASQVPVKRQSSSSECHPPACEAAQLQPLGNAHCVESSDQTNVLSSTFLSPQCSPQHSPL GAVKSPQHISLPPSPNNPHFLPSSSGAQGEGHRVSSPISSQVCTAQNSGAHDGHPPSFSPHSSS LHPPFSGAQADSSHGAGGNPCPKSPCVQQKMAGLHSSDKVGPKFSIPSPTFSKSSSAISEVTQP PSYEDAVKQQMTRSQQMDELLDVLIESGEMPADAREDHSCLQKVPKIPRSSRSPTAVLTKPSAS FEQASSGSQIPFDPYATDSDEHLEVLLNSQSPLGKMSDVTLLKIGSEEPHFDGIMDGFSGKAAE DLFNAHEILPGPLSPMQTQFSPSSVDSNGLQLSFTESPWETMEWLDLTPPNSTPGFSALTTSSP SIFNIDFLDVTDLNLNSSMDLHLQQW hide sequence

RefSeq Acc Id:	NP_705832 ⟸ NM_153604
- Peptide Label:	isoform 2
- UniProtKB:	Q5UBU5 (UniProtKB/Swiss-Prot), Q8N7Q1 (UniProtKB/Swiss-Prot), Q8IZQ8 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MTLLGSEHSLLIRSKFRSVLQLRLQQRRTQEQLANQGIIPPLKRPAEFHEQRKHLDSDKAKNSL KRKARNRCNSADLVNMHILQASTAERSIPTAQMKLKRARLADDLNEKIALRPGPLELVEKNILP VDSAVKEAIKGNQVSFSKSTDAFAFEEDSSSDGLSPDQTRSEDPQNSAGSPPDAKASDTPSTGS LGTNQDLASGSENDRNDSASQPSHQSDAGKQGLGPPSTPIAVHAAVKSKSLGDSKNRHKKPKDP KPKVKKLKYHQYIPPDQKAEKSPPPMDSAYARLLQQQQLFLQLQILSQQQQQQQHRFSYLGMHQ AQLKEPNEQMVRNPNSSSTPLSNTPLSPVKNSFSGQTGVSSFKPGPLPPNLDDLKVSELRQQLR IRGLPVSGTKTALMDRLRPFQDCSGNPVPNFGDITTVTFPVTPNTLPNYQSSSSTSALSNGFYH FGSTSSSPPISPASSDLSVAGSLPDTFNDASPSFGLHPSPVHVCTEESLMSSLNGGSVPSELDG LDSEKDKMLVEKQKVINELTWKLQQEQRQVEELRMQLQKQKRNNCSEKKPLPFLAASIKQEEAV SSCPFASQVPVKRQSSSSECHPPACEAAQLQPLGNAHCVESSDQTNVLSSTFLSPQCSPQHSPL GAVKSPQHISLPPSPNNPHFLPSSSGAQGEGHRVSSPISSQVCTAQMAGLHSSDKVGPKFSIPS PTFSKSSSAISEVTQPPSYEDAVKQQMTRSQQMDELLDVLIESGEMPADAREDHSCLQKVPKIP RSSRSPTAVLTKPSASFEQASSGSQIPFDPYATDSDEHLEVLLNSQSPLGKMSDVTLLKIGSEE PHFDGIMDGFSGKAAEDLFNAHEILPGPLSPMQTQFSPSSVDSNGLQLSFTESPWETMEWLDLT PPNSTPGFSALTTSSPSIFNIDFLDVTDLNLNSSMDLHLQQW hide sequence

RefSeq Acc Id:

XP_005256920 ⟸ XM_005256863

- Peptide Label:

isoform X2

- Sequence:

show sequence

MTLLGSEHSLLIRSKFRSVLQLRLQQRRTQEQLANQGIIPPLKRPAEFHEQRKHLDSDKAKNSL
KRKARNRCNSADLVNMHILQASTAERSIPTAQMKLKRARLADDLNEKIALRPGPLELVEKNILP
VDSAVKEAIKGNQVSFSKSTDAFAFEEDSSSDGLSPDQTRSEDPQNSAGSPPDAKASDTPSTGS
LGTNQDLASGSENDRNDSASQPSHQSDAGKQGLGPPSTPIAVHAAVKSKSLGDSKNRHKKPKDP
KPKVKKLKYHQYIPPDQKAEKSPPPMDSAYARLLQQQQLFLQLQILSQQQQQQQHRFSYLGMHQ
AQLKEPNEQMVRNPNSSSTPLSNTPLSPVKNSFSGQTGVSSFKPGPLPPNLDDLKVSELRQQLR
IRGLPVSGTKTALMDRLRPFQDCSGNPVPNFGDITTVTFPVTPNTLPNYQSSSSTSALSNGFYH
FGSTSSSPPISPASSDLSVAGSLPDTFNDASPSFGLHPSPVHVCTEESLMSSLNGGSVPSELDG
LDSEKDKMLVEKQKVINELTWKLQQEQRQVEELRMQLQKQKRNNCSEKKPLPFLAASIKQEEAV
SSCPFASQVPVKRQSSSSECHPPACEAAQLQPLGNAHCVESSDQTNVLSSTFLSPQCSPQHSPL
GAVKSPQHISLPPSPNNPHFLPSSSGAQGEGHRVSSPISSQVCTAQNSGAHDGHPPSFSPHSSS
LHPPFSGAQADSSHGAGGNPCPKSPCVQQKQMTRSQQMDELLDVLIESGEMPADAREDHSCLQK
VPKIPRSSRSPTAVLTKPSASFEQASSGSQIPFDPYATDSDEHLEVLLNSQSPLGKMSDVTLLK
IGSEEPHFDGIMDGFSGKAAEDLFNAHEILPGPLSPMQTQFSPSSVDSNGLQLSFTESPWETME
WLDLTPPNSTPGFSALTTSSPSIFNIDFLDVTDLNLNSSMDLHLQQW

hide sequence

RefSeq Acc Id:

XP_016880831 ⟸ XM_017025342

- Peptide Label:

isoform X1

- Sequence:

show sequence

MTLLGSEHSLLIRSKFRSVLQLRLQQRRTQEQLANQGIIPPLKRPAEFHEQRKHLDSDKAKNSL
KRKARNRCNSADLVNMHILQASTAERSIPTAQMKLKRARLADDLNEKIALRPGPLELVEKNILP
VDSAVKEAIKGNQVSFSKSTDAFAFEEDSSSDGLSPDQTRSEDPQNSAGSPPDAKASDTPSTGS
LGTNQSKSLGDSKNRHKKPKDPKPKVKKLKYHQYIPPDQKAEKSPPPMDSAYARLLQQQQLFLQ
LQILSQQQQQQQHRFSYLGMHQAQLKEPNEQMVRNPNSSSTPLSNTPLSPVKNSFSGQTGVSSF
KPGPLPPNLDDLKVSELRQQLRIRGLPVSGTKTALMDRLRPFQDCSGNPVPNFGDITTVTFPVT
PNTLPNYQSSSSTSALSNGFYHFGSTSSSPPISPASSDLSVAGSLPDTFNDASPSFGLHPSPVH
VCTEESLMSSLNGGSVPSELDGLDSEKDKMLVEKQKVINELTWKLQQEQRQVEELRMQLQKQKR
NNCSEKKPLPFLAASIKQEEAVSSCPFASQVPVKRQSSSSECHPPACEAAQLQPLGNAHCVESS
DQTNVLSSTFLSPQCSPQHSPLGAVKSPQHISLPPSPNNPHFLPSSSGAQGEGHRVSSPISSQV
CTAQNSGAHDGHPPSFSPHSSSLHPPFSGAQADSSHGAGGNPCPKSPCVQQKMAGLHSSDKVGP
KFSIPSPTFSKSSSAISEVTQPPSYEDAVKQQMTRSQQMDELLDVLIESGEMPADAREDHSCLQ
KVPKIPRSSRSPTAVLTKPSASFEQASSGSQIPFDPYATDSDEHLEVLLNSQSPLGKMSDVTLL
KIGSEEPHFDGIMDGFSGKAAEDLFNAHEILPGPLSPMQTQFSPSSVDSNGLQLSFTESPWETM
EWLDLTPPNSTPGFSALTTSSPSIFNIDFLDVTDLNLNSSMDLHLQQW

hide sequence

RefSeq Acc Id:	NP_001365235 ⟸ NM_001378306
- Peptide Label:	isoform 3

Ensembl Acc Id:

ENSP00000401678 ⟸ ENST00000425538

Ensembl Acc Id:

ENSP00000400148 ⟸ ENST00000443061

Ensembl Acc Id:

ENSP00000462694 ⟸ ENST00000579237

Ensembl Acc Id:

ENSP00000341835 ⟸ ENST00000343344

RefSeq Acc Id:	XP_054173796 ⟸ XM_054317821
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054173795 ⟸ XM_054317820
- Peptide Label:	isoform X1

Protein Domains

SAP

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8IZQ8-F1-model_v2	AlphaFold	Q8IZQ8	1-938	view protein structure

Promoters

RGD ID:

7234037

Promoter ID:

EPDNEW_H22764

Type:

initiation region

Name:

MYOCD_1

Description:

myocardin

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H22763 EPDNEW_H22765 EPDNEW_H22766

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	12,665,890 - 12,665,950	EPDNEW

RGD ID:

7234039

Promoter ID:

EPDNEW_H22765

Type:

initiation region

Name:

MYOCD_2

Description:

myocardin

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H22763 EPDNEW_H22764 EPDNEW_H22766

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	12,666,018 - 12,666,078	EPDNEW

RGD ID:

7234041

Promoter ID:

EPDNEW_H22766

Type:

initiation region

Name:

MYOCD_4

Description:

myocardin

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H22763 EPDNEW_H22764 EPDNEW_H22765

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	12,744,346 - 12,744,406	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:16067	AgrOrtholog
COSMIC	MYOCD	COSMIC
Ensembl Genes	ENSG00000141052	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000343344	ENTREZGENE
	ENST00000343344.8	UniProtKB/Swiss-Prot
	ENST00000425538	ENTREZGENE
	ENST00000425538.6	UniProtKB/Swiss-Prot
	ENST00000443061.1	UniProtKB/TrEMBL
	ENST00000579237.5	UniProtKB/TrEMBL
Gene3D-CATH	1.10.720.30	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	6.10.140.2040	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	6.10.150.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000141052	GTEx
HGNC ID	HGNC:16067	ENTREZGENE
Human Proteome Map	MYOCD	Human Proteome Map
InterPro	Myocardin-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RPEL_repeat	UniProtKB/Swiss-Prot
	SAP_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SAP_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:93649	UniProtKB/Swiss-Prot
NCBI Gene	93649	ENTREZGENE
OMIM	606127	OMIM
PANTHER	PTHR22793	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR22793:SF11	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	RPEL	UniProtKB/Swiss-Prot
	SAP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134946896	PharmGKB
PROSITE	RPEL	UniProtKB/Swiss-Prot
	SAP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	RPEL	UniProtKB/Swiss-Prot
	SAP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF68906	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	J3KSX3_HUMAN	UniProtKB/TrEMBL
	MYCD_HUMAN	UniProtKB/Swiss-Prot
	Q5UBU5	ENTREZGENE
	Q6N065_HUMAN	UniProtKB/TrEMBL
	Q8IZQ8	ENTREZGENE
	Q8N7Q1	ENTREZGENE
UniProt Secondary	H0Y5Q8	UniProtKB/TrEMBL
	Q5UBU5	UniProtKB/Swiss-Prot
	Q8N7Q1	UniProtKB/Swiss-Prot

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

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

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

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

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Annotations - PID (archival)

Manual Human Phenotype Annotations - RGD

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

Send us a Message

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Annotations - PID (archival)

Manual Human Phenotype Annotations - RGD

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar