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Gene: HM13 (histocompatibility minor 13) Homo sapiens

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Symbol:

HM13

Name:

histocompatibility minor 13

RGD ID:

1319013

HGNC Page

HGNC:16435

Description:

Enables aspartic endopeptidase activity, intramembrane cleaving; protein homodimerization activity; and ubiquitin protein ligase binding activity. Involved in membrane protein proteolysis involved in retrograde protein transport, ER to cytosol. Located in cytoplasmic side of endoplasmic reticulum membrane; lumenal side of endoplasmic reticulum membrane; and rough endoplasmic reticulum. Part of Derlin-1 retrotranslocation complex.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

dJ324O17.1; H13; hIMP1; histocompatibility (minor) 13; histocompatibility 13; IMP-1; IMP1; IMPAS; IMPAS-1; intramembrane protease 1; minor histocompatibility antigen 13; minor histocompatibility antigen H13; MSTP086; presenilin-like protein 3; PSENL3; PSL3; signal peptide peptidase beta; signal peptide peptidase like 1; SPP; SPPL1

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):	H13 (histocompatibility 13)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Hm13 (histocompatibility minor 13)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Hm13 (histocompatibility minor 13)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	HM13 (histocompatibility minor 13)	NCBI	Ortholog
Canis lupus familiaris (dog):	HM13 (histocompatibility minor 13)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Hm13 (histocompatibility minor 13)	NCBI	Ortholog
Sus scrofa (pig):	HM13 (histocompatibility minor 13)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	HM13 (histocompatibility minor 13)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Hm13 (histocompatibility minor 13)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Hm13 (histocompatibility minor 13)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	H13 (histocompatibility 13)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	hm13 (histocompatibility (minor) 13)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Spp	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	YPF1	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	imp-2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)

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	20	31,514,442 - 31,569,543 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	20	31,514,428 - 31,577,923 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	20	30,102,245 - 30,157,346 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	29,565,902 - 29,621,031 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	20	29,565,901 - 29,591,257	NCBI
Celera	20	26,858,423 - 26,913,551 (+)	NCBI		Celera
Cytogenetic Map	20	q11.21	NCBI
HuRef	20	26,890,440 - 26,945,730 (+)	NCBI		HuRef
CHM1_1	20	30,006,150 - 30,061,281 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	20	33,238,668 - 33,293,768 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
HM13	Human	Herpesviridae Infections	treatment	ISO	H13 (Mus musculus)	40903053		RGD
HM13	Human	Herpesviridae Infections	treatment	ISO	H13 (Mus musculus)	40903051		RGD
HM13	Human	steatotic liver disease		ISO	H13 (Mus musculus)	40924634	associated with hepatitis	RGD

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
HM13	Human	1,2-dimethylhydrazine	increases expression	ISO	H13 (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in increased expression of H13 mRNA	CTD	PMID:22206623
HM13	Human	1,2-dimethylhydrazine	multiple interactions	ISO	H13 (Mus musculus)	6480464	Folic Acid inhibits the reaction [1 and 2-Dimethylhydrazine results in increased expression of H13 mRNA]	CTD	PMID:22206623
HM13	Human	17beta-estradiol	decreases expression	EXP		6480464	Estradiol results in decreased expression of HM13 mRNA	CTD	PMID:16705744
HM13	Human	17beta-hydroxy-5alpha-androstan-3-one	increases expression	EXP		6480464	Dihydrotestosterone results in increased expression of HM13 mRNA	CTD	PMID:29581250
HM13	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	H13 (Mus musculus)	6480464	Tetrachlorodibenzodioxin results in increased expression of H13 mRNA	CTD	PMID:19933214
HM13	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	H13 (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of H13 mRNA	CTD	PMID:21570461
HM13	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Hm13 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in increased expression of H13 mRNA and Tetrachlorodibenzodioxin results in increased expression of HM13 mRNA	CTD	PMID:18796159 more ...
HM13	Human	3,4-methylenedioxymethamphetamine	decreases expression	ISO	H13 (Mus musculus)	6480464	N-Methyl-3 and 4-methylenedioxyamphetamine results in decreased expression of H13 mRNA	CTD	PMID:26251327
HM13	Human	3,4-methylenedioxymethamphetamine	increases methylation	ISO	H13 (Mus musculus)	6480464	N-Methyl-3 and 4-methylenedioxyamphetamine results in increased methylation of H13 promoter	CTD	PMID:26251327
HM13	Human	3-chloropropane-1,2-diol	increases expression	ISO	Hm13 (Rattus norvegicus)	6480464	alpha-Chlorohydrin results in increased expression of HM13 protein	CTD	PMID:34915118
HM13	Human	3-isobutyl-1-methyl-7H-xanthine	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol S] results in decreased expression of HM13 mRNA	CTD	PMID:28628672
HM13	Human	4,4'-diaminodiphenylmethane	decreases expression	ISO	H13 (Mus musculus)	6480464	4 and 4'-diaminodiphenylmethane results in decreased expression of H13 mRNA	CTD	PMID:18648102
HM13	Human	4,4'-sulfonyldiphenol	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol S] results in decreased expression of HM13 mRNA	CTD	PMID:28628672
HM13	Human	5-fluorouracil	affects expression	EXP		6480464	Fluorouracil affects the expression of HM13 mRNA	CTD	PMID:16584549
HM13	Human	acrylamide	increases expression	ISO	Hm13 (Rattus norvegicus)	6480464	Acrylamide results in increased expression of HM13 mRNA	CTD	PMID:28959563
HM13	Human	aflatoxin B1	increases expression	ISO	H13 (Mus musculus)	6480464	Aflatoxin B1 results in increased expression of H13 mRNA	CTD	PMID:19770486
HM13	Human	aflatoxin B1	increases methylation	EXP		6480464	Aflatoxin B1 results in increased methylation of HM13 intron	CTD	PMID:30157460
HM13	Human	arsenous acid	decreases expression	EXP		6480464	Arsenic Trioxide results in decreased expression of HM13 protein	CTD	PMID:25419056
HM13	Human	atrazine	increases expression	EXP		6480464	Atrazine results in increased expression of HM13 mRNA	CTD	PMID:22378314
HM13	Human	benzo[a]pyrene	increases expression	EXP		6480464	Benzo(a)pyrene results in increased expression of HM13 mRNA	CTD	PMID:26238291
HM13	Human	benzo[a]pyrene	decreases methylation	EXP		6480464	Benzo(a)pyrene results in decreased methylation of HM13 3' UTR and Benzo(a)pyrene results in decreased methylation of HM13 promoter	CTD	PMID:27901495
HM13	Human	benzo[a]pyrene	multiple interactions	ISO	H13 (Mus musculus)	6480464	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of H13 mRNA	CTD	PMID:27858113
HM13	Human	benzo[b]fluoranthene	multiple interactions	ISO	H13 (Mus musculus)	6480464	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of H13 mRNA	CTD	PMID:27858113
HM13	Human	benzo[e]pyrene	decreases methylation	EXP		6480464	benzo(e)pyrene results in decreased methylation of HM13 intron	CTD	PMID:30157460
HM13	Human	bis(2-ethylhexyl) phthalate	increases methylation	ISO	H13 (Mus musculus)	6480464	Diethylhexyl Phthalate results in increased methylation of H13 gene	CTD	PMID:38833407
HM13	Human	bis(2-ethylhexyl) phthalate	increases expression	ISO	H13 (Mus musculus)	6480464	Diethylhexyl Phthalate results in increased expression of H13 mRNA	CTD	PMID:33754040
HM13	Human	bisphenol A	increases expression	ISO	Hm13 (Rattus norvegicus)	6480464	bisphenol A results in increased expression of HM13 mRNA	CTD	PMID:25181051
HM13	Human	bisphenol A	increases expression	EXP		6480464	bisphenol A results in increased expression of HM13 protein	CTD	PMID:34186270
HM13	Human	bisphenol A	affects expression	EXP		6480464	bisphenol A affects the expression of HM13 mRNA	CTD	PMID:30903817
HM13	Human	bisphenol A	decreases expression	ISO	Hm13 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of HM13 mRNA	CTD	PMID:30816183 and PMID:34947998
HM13	Human	bisphenol AF	increases expression	EXP		6480464	bisphenol AF results in increased expression of HM13 protein	CTD	PMID:34186270
HM13	Human	Bisphenol B	increases expression	EXP		6480464	bisphenol B results in increased expression of HM13 protein	CTD	PMID:34186270
HM13	Human	bisphenol F	increases expression	EXP		6480464	bisphenol F results in increased expression of HM13 protein	CTD	PMID:34186270
HM13	Human	cadmium dichloride	increases expression	EXP		6480464	Cadmium Chloride results in increased expression of HM13 mRNA	CTD	PMID:26472689 and PMID:38568856
HM13	Human	carbon nanotube	increases expression	ISO	H13 (Mus musculus)	6480464	Nanotubes more ...	CTD	PMID:25554681
HM13	Human	chlorpyrifos	increases expression	ISO	H13 (Mus musculus)	6480464	Chlorpyrifos results in increased expression of H13 mRNA	CTD	PMID:37019170
HM13	Human	chrysene	decreases expression	ISO	H13 (Mus musculus)	6480464	chrysene results in decreased expression of H13 mRNA	CTD	PMID:26377693
HM13	Human	chrysene	multiple interactions	ISO	H13 (Mus musculus)	6480464	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of H13 mRNA	CTD	PMID:27858113
HM13	Human	clofibrate	decreases expression	ISO	H13 (Mus musculus)	6480464	Clofibrate results in decreased expression of H13 mRNA	CTD	PMID:17585979
HM13	Human	clofibric acid	multiple interactions	ISO	Hm13 (Rattus norvegicus)	6480464	[Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of H13 mRNA	CTD	PMID:17602206
HM13	Human	cobalt dichloride	decreases expression	ISO	Hm13 (Rattus norvegicus)	6480464	cobaltous chloride results in decreased expression of HM13 mRNA	CTD	PMID:24386269
HM13	Human	cyclophosphamide	decreases expression	ISO	H13 (Mus musculus)	6480464	Cyclophosphamide results in decreased expression of H13 mRNA	CTD	PMID:15331540
HM13	Human	cyclosporin A	increases expression	ISO	H13 (Mus musculus)	6480464	Cyclosporine results in increased expression of H13 mRNA	CTD	PMID:19770486
HM13	Human	cyclosporin A	increases expression	EXP		6480464	Cyclosporine results in increased expression of HM13 mRNA	CTD	PMID:20106945 more ...
HM13	Human	decabromodiphenyl ether	affects expression	EXP		6480464	decabromobiphenyl ether affects the expression of HM13 mRNA	CTD	PMID:24834073
HM13	Human	dexamethasone	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol S] results in decreased expression of HM13 mRNA	CTD	PMID:28628672
HM13	Human	diarsenic trioxide	decreases expression	EXP		6480464	Arsenic Trioxide results in decreased expression of HM13 protein	CTD	PMID:25419056
HM13	Human	diethylstilbestrol	decreases expression	ISO	Hm13 (Rattus norvegicus)	6480464	Diethylstilbestrol results in decreased expression of HM13 mRNA	CTD	PMID:36653537
HM13	Human	diuron	decreases expression	EXP		6480464	Diuron results in decreased expression of HM13 mRNA	CTD	PMID:35967413
HM13	Human	endosulfan	increases expression	ISO	Hm13 (Rattus norvegicus)	6480464	Endosulfan results in increased expression of HM13 mRNA	CTD	PMID:29391264
HM13	Human	epoxiconazole	decreases expression	ISO	H13 (Mus musculus)	6480464	epoxiconazole results in decreased expression of H13 mRNA	CTD	PMID:35436446
HM13	Human	fenthion	increases expression	ISO	H13 (Mus musculus)	6480464	Fenthion results in increased expression of H13 mRNA	CTD	PMID:34813904
HM13	Human	folic acid	multiple interactions	ISO	H13 (Mus musculus)	6480464	Folic Acid inhibits the reaction [1 and 2-Dimethylhydrazine results in increased expression of H13 mRNA]	CTD	PMID:22206623
HM13	Human	folic acid	decreases expression	ISO	H13 (Mus musculus)	6480464	Folic Acid results in decreased expression of H13 mRNA	CTD	PMID:25629700
HM13	Human	FR900359	increases phosphorylation	EXP		6480464	FR900359 results in increased phosphorylation of HM13 protein	CTD	PMID:37730182
HM13	Human	genistein	decreases expression	EXP		6480464	Genistein results in decreased expression of HM13 mRNA	CTD	PMID:16705744
HM13	Human	glafenine	increases expression	ISO	Hm13 (Rattus norvegicus)	6480464	Glafenine results in increased expression of HM13 mRNA	CTD	PMID:24136188
HM13	Human	glyphosate	affects methylation	EXP		6480464	Glyphosate affects the methylation of HM13 gene	CTD	PMID:35377194
HM13	Human	indometacin	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol S] results in decreased expression of HM13 mRNA	CTD	PMID:28628672
HM13	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of HM13 protein	CTD	PMID:32959892
HM13	Human	lead(0)	decreases methylation	ISO	H13 (Mus musculus)	6480464	Lead results in decreased methylation of H13 gene	CTD	PMID:38833407
HM13	Human	leflunomide	increases expression	ISO	Hm13 (Rattus norvegicus)	6480464	leflunomide results in increased expression of HM13 mRNA	CTD	PMID:24136188
HM13	Human	methapyrilene	decreases methylation	EXP		6480464	Methapyrilene results in decreased methylation of HM13 intron	CTD	PMID:30157460
HM13	Human	methidathion	increases expression	ISO	H13 (Mus musculus)	6480464	methidathion results in increased expression of H13 mRNA	CTD	PMID:34813904
HM13	Human	N-nitrosodiethylamine	multiple interactions	ISO	Hm13 (Rattus norvegicus)	6480464	[Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of H13 mRNA	CTD	PMID:17602206
HM13	Human	nickel atom	increases expression	EXP		6480464	Nickel results in increased expression of HM13 mRNA	CTD	PMID:24768652
HM13	Human	ozone	multiple interactions	EXP		6480464	[Air Pollutants results in increased abundance of Ozone] which affects the expression of HM13 mRNA	CTD	PMID:35430440
HM13	Human	paracetamol	increases expression	EXP		6480464	Acetaminophen results in increased expression of HM13 mRNA	CTD	PMID:29067470
HM13	Human	paracetamol	decreases expression	ISO	Hm13 (Rattus norvegicus)	6480464	Acetaminophen results in decreased expression of HM13 mRNA	CTD	PMID:33387578
HM13	Human	paraquat	decreases expression	ISO	H13 (Mus musculus)	6480464	Paraquat results in decreased expression of H13 mRNA	CTD	PMID:21371552
HM13	Human	phenobarbital	decreases expression	ISO	H13 (Mus musculus)	6480464	Phenobarbital results in decreased expression of H13 mRNA	CTD	PMID:23091169
HM13	Human	pirinixic acid	multiple interactions	EXP		6480464	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of HM13 mRNA	CTD	PMID:19710929
HM13	Human	pirinixic acid	decreases expression	ISO	H13 (Mus musculus)	6480464	pirinixic acid results in decreased expression of H13 mRNA	CTD	PMID:23811191
HM13	Human	resveratrol	increases expression	ISO	H13 (Mus musculus)	6480464	resveratrol results in increased expression of H13 protein	CTD	PMID:25505154
HM13	Human	SB 431542	multiple interactions	EXP		6480464	[LDN 193189 co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide co-treated with FGF2 protein] results in decreased expression of HM13 protein	CTD	PMID:37664457
HM13	Human	silicon dioxide	increases expression	EXP		6480464	Silicon Dioxide analog results in increased expression of HM13 mRNA	CTD	PMID:25895662
HM13	Human	silver atom	decreases expression	ISO	H13 (Mus musculus)	6480464	Silver results in decreased expression of H13 mRNA	CTD	PMID:27131904
HM13	Human	silver(0)	decreases expression	ISO	H13 (Mus musculus)	6480464	Silver results in decreased expression of H13 mRNA	CTD	PMID:27131904
HM13	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of HM13 mRNA	CTD	PMID:38568856
HM13	Human	Soman	increases expression	ISO	Hm13 (Rattus norvegicus)	6480464	Soman results in increased expression of H13 mRNA	CTD	PMID:19281266
HM13	Human	sulindac sulfide	affects binding	EXP		6480464	sulindac sulfide binds to HM13 protein	CTD	PMID:17932033
HM13	Human	sulindac sulfide	multiple interactions	EXP		6480464	sulindac sulfide inhibits the reaction [L 685458 binds to HM13 protein]	CTD	PMID:17932033
HM13	Human	testosterone	decreases expression	ISO	H13 (Mus musculus)	6480464	Testosterone deficiency results in decreased expression of H13 mRNA	CTD	PMID:33848595
HM13	Human	testosterone	multiple interactions	ISO	H13 (Mus musculus)	6480464	1 more ...	CTD	PMID:33848595
HM13	Human	tetraphene	multiple interactions	ISO	H13 (Mus musculus)	6480464	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of H13 mRNA	CTD	PMID:27858113
HM13	Human	thapsigargin	increases expression	EXP		6480464	Thapsigargin results in increased expression of HM13 mRNA	CTD	PMID:22378314
HM13	Human	theophylline	affects binding	EXP		6480464	Theophylline binds to HM13 protein	CTD	PMID:18951874
HM13	Human	thioacetamide	decreases expression	ISO	Hm13 (Rattus norvegicus)	6480464	Thioacetamide results in decreased expression of HM13 mRNA	CTD	PMID:23411599
HM13	Human	titanium dioxide	increases expression	ISO	H13 (Mus musculus)	6480464	titanium dioxide results in increased expression of H13 mRNA	CTD	PMID:27760801
HM13	Human	titanium dioxide	decreases methylation	ISO	H13 (Mus musculus)	6480464	titanium dioxide results in decreased methylation of H13 gene	CTD	PMID:35295148
HM13	Human	trichloroethene	increases expression	ISO	Hm13 (Rattus norvegicus)	6480464	Trichloroethylene results in increased expression of HM13 mRNA	CTD	PMID:33387578
HM13	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of HM13 mRNA	CTD	PMID:37042841
HM13	Human	triptonide	increases expression	ISO	H13 (Mus musculus)	6480464	triptonide results in increased expression of H13 mRNA	CTD	PMID:33045310
HM13	Human	tunicamycin	increases expression	EXP		6480464	Tunicamycin results in increased expression of HM13 mRNA	CTD	PMID:22378314
HM13	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of HM13 mRNA	CTD	PMID:23179753
HM13	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of HM13 mRNA	CTD	PMID:25979313

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
HM13	Human	cellular response to oxidative stress	involved_in	TAS		150520179		Reactome	Reactome:R-HSA-9707587
HM13	Human	in utero embryonic development	acts_upstream_of_or_within	IEA	UniProtKB:Q9D8V0 and ensembl:ENSMUSP00000086460	150520179		Ensembl	GO_REF:0000107
HM13	Human	membrane protein ectodomain proteolysis	NOT\|involved_in	IMP		150520179	PMID:17965014	UniProt	PMID:17965014
HM13	Human	membrane protein intracellular domain proteolysis	NOT\|involved_in	IMP		150520179	PMID:16829952	UniProt	PMID:16829952
HM13	Human	membrane protein proteolysis	involved_in	IDA		150520179	PMID:14741365	UniProt	PMID:14741365
HM13	Human	membrane protein proteolysis	involved_in	IBA	PANTHER:PTN000256133 and UniProtKB:Q8TCT9	150520179		GO_Central	GO_REF:0000033
HM13	Human	membrane protein proteolysis involved in retrograde protein transport, ER to cytosol	involved_in	IMP		150520179	PMID:25239945	ParkinsonsUK-UCL	PMID:25239945
HM13	Human	proteolysis	involved_in	IEA	UniProtKB-KW:KW-0645	150520179		UniProt	GO_REF:0000043
HM13	Human	signal peptide processing	involved_in	IBA	FB:FBgn0031260 more ...	150520179		GO_Central	GO_REF:0000033

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
HM13	Human	cell surface	located_in	ISS	UniProtKB:Q9D8V0-4	150520179		UniProt	GO_REF:0000024
HM13	Human	cytoplasmic side of endoplasmic reticulum membrane	is_active_in	IBA	PANTHER:PTN000256133 and UniProtKB:Q8TCT9	150520179		GO_Central	GO_REF:0000033
HM13	Human	cytoplasmic side of endoplasmic reticulum membrane	located_in	IEA	ARBA:ARBA00027306	150520179		UniProt	GO_REF:0000117
HM13	Human	cytoplasmic side of endoplasmic reticulum membrane	located_in	IDA		150520179	PMID:15385547	UniProt	PMID:15385547
HM13	Human	Derlin-1 retrotranslocation complex	part_of	IDA		150520179	PMID:25239945	ParkinsonsUK-UCL	PMID:25239945
HM13	Human	endoplasmic reticulum	located_in	IEA	UniProtKB-KW:KW-0256	150520179		UniProt	GO_REF:0000043
HM13	Human	endoplasmic reticulum	located_in	IEA	UniProtKB:Q9D8V0 and ensembl:ENSMUSP00000086460	150520179		Ensembl	GO_REF:0000107
HM13	Human	endoplasmic reticulum	located_in	ISS	UniProtKB:Q9D8V0-1	150520179		UniProt	GO_REF:0000024
HM13	Human	endoplasmic reticulum	located_in	IDA		150520179		HPA	GO_REF:0000052
HM13	Human	endoplasmic reticulum membrane	located_in	IEA	UniProtKB:Q9D8V0 and ensembl:ENSMUSP00000086460	150520179		Ensembl	GO_REF:0000107
HM13	Human	endoplasmic reticulum membrane	located_in	IEA	UniProtKB-SubCell:SL-0097	150520179		UniProt	GO_REF:0000044
HM13	Human	endoplasmic reticulum membrane	located_in	IC	GO:1904211	150520179	PMID:25239945	ParkinsonsUK-UCL	PMID:25239945
HM13	Human	endoplasmic reticulum membrane	located_in	TAS		150520179		Reactome	Reactome:R-HSA-9708457
HM13	Human	lumenal side of endoplasmic reticulum membrane	is_active_in	IBA	PANTHER:PTN000256133 and UniProtKB:Q8TCT9	150520179		GO_Central	GO_REF:0000033
HM13	Human	lumenal side of endoplasmic reticulum membrane	located_in	IEA	ARBA:ARBA00027308	150520179		UniProt	GO_REF:0000117
HM13	Human	lumenal side of endoplasmic reticulum membrane	located_in	IDA		150520179	PMID:15385547	UniProt	PMID:15385547
HM13	Human	membrane	located_in	HDA		150520179	PMID:19946888	UniProt	PMID:19946888
HM13	Human	membrane	located_in	IEA	UniProtKB-SubCell:SL-0162	150520179		UniProt	GO_REF:0000044
HM13	Human	membrane	located_in	IEA	InterPro:IPR006639 and InterPro:IPR007369	150520179		InterPro	GO_REF:0000002
HM13	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
HM13	Human	plasma membrane	located_in	IEA	UniProtKB-SubCell:SL-0039	150520179		UniProt	GO_REF:0000044
HM13	Human	plasma membrane	located_in	IEA	UniProtKB-KW:KW-1003	150520179		UniProt	GO_REF:0000043
HM13	Human	rough endoplasmic reticulum	located_in	IDA		150520179	PMID:15998642 and PMID:16829952	UniProt	PMID:15998642 and PMID:16829952

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
HM13	Human	aspartic endopeptidase activity, intramembrane cleaving	enables	IDA		150520179	PMID:25239945	UniProt	PMID:25239945
HM13	Human	aspartic endopeptidase activity, intramembrane cleaving	enables	IBA	FB:FBgn0031260 more ...	150520179		GO_Central	GO_REF:0000033
HM13	Human	aspartic endopeptidase activity, intramembrane cleaving	enables	IEA	InterPro:IPR006639 and InterPro:IPR007369	150520179		InterPro	GO_REF:0000002
HM13	Human	aspartic endopeptidase activity, intramembrane cleaving	enables	IMP		150520179	PMID:16873890	UniProt	PMID:16873890
HM13	Human	aspartic endopeptidase activity, intramembrane cleaving	enables	TAS		150520179		Reactome	Reactome:R-HSA-9708457
HM13	Human	hydrolase activity	enables	IEA	UniProtKB-KW:KW-0378	150520179		UniProt	GO_REF:0000043
HM13	Human	peptidase activity	enables	IEA	UniProtKB-KW:KW-0645	150520179		UniProt	GO_REF:0000043
HM13	Human	peptidase activity	enables	IDA		150520179	PMID:14741365	UniProt	PMID:14741365
HM13	Human	protein binding	enables	IPI	UniProtKB:P17861-1 more ...	150520179	PMID:25239945	IntAct	PMID:25239945
HM13	Human	protein binding	enables	IPI	UniProtKB:P17861-1 and UniProtKB:Q9BUN8	150520179	PMID:25239945	UniProt	PMID:25239945
HM13	Human	protein binding	enables	IPI	UniProtKB:Q9BRK4	150520179	PMID:25416956	IntAct	PMID:25416956
HM13	Human	protein binding	enables	IPI	UniProtKB:P07237	150520179	PMID:19942855	IntAct	PMID:19942855
HM13	Human	protein binding	enables	IPI	UniProtKB:Q8WU17	150520179	PMID:19720873	UniProt	PMID:19720873
HM13	Human	protein homodimerization activity	enables	IEA	ARBA:ARBA00027933	150520179		UniProt	GO_REF:0000117
HM13	Human	protein homodimerization activity	enables	IDA		150520179	PMID:15385547 more ...	UniProt	PMID:15385547 more ...
HM13	Human	ubiquitin protein ligase binding	enables	IPI	UniProtKB:Q8WU17	150520179	PMID:25239945	UniProt	PMID:25239945

#	Reference Title	Reference Citation
1.	TRC8-dependent degradation of hepatitis C virus immature core protein regulates viral propagation and pathogenesis.	Aizawa S, etal., Nat Commun. 2016 May 4;7:11379. doi: 10.1038/ncomms11379.
2.	Inhibitors of signal peptide peptidase (SPP) affect HSV-1 infectivity in vitro and in vivo.	Allen SJ, etal., Exp Eye Res. 2014 Jun;123:8-15. doi: 10.1016/j.exer.2014.04.004. Epub 2014 Apr 24.
3.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
5.	Absence of Signal Peptide Peptidase, an Essential Herpes Simplex Virus 1 Glycoprotein K Binding Partner, Reduces Virus Infectivity In Vivo.	Wang S and Ghiasi H, J Virol. 2019 Nov 13;93(23). pii: JVI.01309-19. doi: 10.1128/JVI.01309-19. Print 2019 Dec 1.

PMID:11780052	PMID:12077416	PMID:12139484	PMID:12145199	PMID:12419218	PMID:12477932	PMID:12972007	PMID:14667819	PMID:14702039	PMID:14704149	PMID:14741365	PMID:14988012
PMID:15385547	PMID:15489334	PMID:15998642	PMID:16303743	PMID:16344560	PMID:16730383	PMID:16738546	PMID:16829952	PMID:16834339	PMID:16873890	PMID:17291163	PMID:17965014
PMID:19121997	PMID:19720873	PMID:19942855	PMID:19946888	PMID:21636854	PMID:21873635	PMID:21903422	PMID:22119785	PMID:22190034	PMID:22810586	PMID:22939629	PMID:25239945
PMID:25416956	PMID:25476789	PMID:25659154	PMID:26344197	PMID:26496610	PMID:26638075	PMID:26871637	PMID:27173435	PMID:27342126	PMID:27375898	PMID:27462432	PMID:28198167
PMID:28380382	PMID:28514442	PMID:28611215	PMID:28624439	PMID:28692057	PMID:28846114	PMID:29117863	PMID:29155886	PMID:29180619	PMID:29343547	PMID:29507755	PMID:29519897
PMID:29568061	PMID:29778605	PMID:30194290	PMID:30348988	PMID:30561431	PMID:30737378	PMID:31056421	PMID:31073040	PMID:31091453	PMID:31182584	PMID:31751430	PMID:31871319
PMID:31950832	PMID:31980649	PMID:31995728	PMID:32149426	PMID:32707033	PMID:32723828	PMID:32807901	PMID:32877691	PMID:32989256	PMID:33022573	PMID:33545068	PMID:33766124
PMID:33957083	PMID:33961781	PMID:34079125	PMID:34226595	PMID:34597346	PMID:34672954	PMID:34709727	PMID:35007762	PMID:35256949	PMID:35271311	PMID:35337019	PMID:35562734
PMID:35696571	PMID:35777956	PMID:35944360	PMID:36153332	PMID:36180527	PMID:36215168	PMID:36244648	PMID:36538041	PMID:36610398	PMID:37314216	PMID:37317656	PMID:37478010
PMID:37625440	PMID:37768083	PMID:37774976	PMID:37827155	PMID:37931956	PMID:38113892	PMID:38218226	PMID:38569033	PMID:39231216	PMID:39468006

HM13
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	20	31,514,442 - 31,569,543 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	20	31,514,428 - 31,577,923 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	20	30,102,245 - 30,157,346 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	29,565,902 - 29,621,031 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	20	29,565,901 - 29,591,257	NCBI
Celera	20	26,858,423 - 26,913,551 (+)	NCBI		Celera
Cytogenetic Map	20	q11.21	NCBI
HuRef	20	26,890,440 - 26,945,730 (+)	NCBI		HuRef
CHM1_1	20	30,006,150 - 30,061,281 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	20	33,238,668 - 33,293,768 (+)	NCBI		T2T-CHM13v2.0

H13
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	152,511,292 - 152,550,590 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	152,511,381 - 152,550,590 (+)	Ensembl		GRCm39 Ensembl
GRCm38	2	152,669,422 - 152,708,668 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	152,669,461 - 152,708,670 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	152,495,197 - 152,534,404 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	152,360,940 - 152,398,265 (+)	NCBI		MGSCv36	mm8
Celera	2	158,485,404 - 158,524,533 (+)	NCBI		Celera
Cytogenetic Map	2	H1	NCBI
cM Map	2	75.41	NCBI

Hm13
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	161,606,059 - 161,641,382 (+)	NCBI		GRCr8
mRatBN7.2	3	141,145,792 - 141,183,557 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	141,145,782 - 141,184,703 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	145,050,767 - 145,086,080 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	153,634,606 - 153,669,917 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	151,375,215 - 151,410,387 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	148,150,695 - 148,189,623 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	148,150,698 - 148,189,623 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	154,555,170 - 154,594,098 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	143,020,648 - 143,059,566 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	3	142,892,504 - 142,961,304 (+)	NCBI
Celera	3	139,895,459 - 139,934,248 (+)	NCBI		Celera
Cytogenetic Map	3	q41	NCBI

Hm13
(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_004955422	29,362,724 - 29,408,840 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955422	29,365,722 - 29,408,788 (-)	NCBI	ChiLan1.0	ChiLan1.0

HM13
(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	21	37,205,681 - 37,262,331 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	20	37,198,811 - 37,255,442 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	20	27,803,597 - 27,859,384 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	20	28,441,297 - 28,499,344 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	20	28,441,285 - 28,501,001 (+)	Ensembl	panpan1.1		panPan2

HM13
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	24	21,026,851 - 21,067,773 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	24	21,026,366 - 21,071,165 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	24	20,674,903 - 20,715,412 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	24	21,713,695 - 21,754,672 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	24	21,713,704 - 21,754,672 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	24	20,992,044 - 21,032,813 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	24	21,097,128 - 21,137,662 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	24	21,527,475 - 21,567,990 (+)	NCBI		UU_Cfam_GSD_1.0

Hm13
(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_024408640	170,108,510 - 170,152,239 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936485	18,539,826 - 18,583,813 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936485	18,539,873 - 18,583,605 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

HM13
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	17	35,248,570 - 35,288,539 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	17	35,248,575 - 35,288,431 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	17	40,078,434 - 40,117,783 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

HM13
(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	2	35,925,316 - 35,975,209 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	2	35,925,290 - 35,977,982 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666050	90,980,941 - 91,032,531 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Hm13
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624741	921,023 - 977,703 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624741	924,040 - 977,646 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in HM13
30 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 15q26.3(chr15:101642152-101843270)x3	copy number gain	See cases [RCV000050845]	Chr15:101642152..101843270 [GRCh38] Chr15:102182355..102383473 [GRCh37] Chr15:99999878..100200996 [NCBI36] Chr15:15q26.3	benign
GRCh38/hg38 15q26.2-26.3(chr15:94033008-101843270)x3	copy number gain	See cases [RCV000050851]	Chr15:94033008..101843270 [GRCh38] Chr15:94576237..102383473 [GRCh37] Chr15:92377241..100200996 [NCBI36] Chr15:15q26.2-26.3	pathogenic
GRCh38/hg38 15q26.3(chr15:101666117-101723215)x3	copy number gain	See cases [RCV000050651]	Chr15:101666117..101723215 [GRCh38] Chr15:102206320..102263418 [GRCh37] Chr15:100023843..100080941 [NCBI36] Chr15:15q26.3	benign
GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	copy number gain	See cases [RCV000052354]	Chr15:89679237..101978958 [GRCh38] Chr15:90222468..102519161 [GRCh37] Chr15:88023472..100336684 [NCBI36] Chr15:15q26.1-26.3	pathogenic
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]\|See cases [RCV000052346]	Chr15:75307767..101723215 [GRCh38] Chr15:75600108..102263418 [GRCh37] Chr15:73387161..100080941 [NCBI36] Chr15:15q24.2-26.3	pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3	copy number gain	See cases [RCV000052347]	Chr15:77543797..101843411 [GRCh38] Chr15:77836139..102383614 [GRCh37] Chr15:75623194..100201137 [NCBI36] Chr15:15q24.3-26.3	pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	copy number gain	See cases [RCV000052352]	Chr15:84169153..101904929 [GRCh38] Chr15:84837905..102445132 [GRCh37] Chr15:82628909..100262655 [NCBI36] Chr15:15q25.2-26.3	pathogenic
GRCh38/hg38 15q26.3(chr15:101500777-101843270)x1	copy number loss	See cases [RCV000051975]	Chr15:101500777..101843270 [GRCh38] Chr15:102040980..102383473 [GRCh37] Chr15:99858503..100200996 [NCBI36] Chr15:15q26.3	uncertain significance
GRCh38/hg38 15q26.2-26.3(chr15:96069425-101849578)x1	copy number loss	See cases [RCV000053228]	Chr15:96069425..101849578 [GRCh38] Chr15:96612654..102389781 [GRCh37] Chr15:94413658..100207304 [NCBI36] Chr15:15q26.2-26.3	pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:96329791-101849578)x1	copy number loss	See cases [RCV000053244]	Chr15:96329791..101849578 [GRCh38] Chr15:96873020..102389781 [GRCh37] Chr15:94674024..100207304 [NCBI36] Chr15:15q26.2-26.3	pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:96913979-101843411)x1	copy number loss	See cases [RCV000053245]	Chr15:96913979..101843411 [GRCh38] Chr15:97457209..102383614 [GRCh37] Chr15:95258213..100201137 [NCBI36] Chr15:15q26.2-26.3	pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:97735430-101810992)x1	copy number loss	See cases [RCV000053246]	Chr15:97735430..101810992 [GRCh38] Chr15:98278660..102351195 [GRCh37] Chr15:96079664..100168718 [NCBI36] Chr15:15q26.2-26.3	pathogenic
GRCh38/hg38 15q26.3(chr15:98845807-101843270)x1	copy number loss	See cases [RCV000053247]	Chr15:98845807..101843270 [GRCh38] Chr15:99389036..102383473 [GRCh37] Chr15:97206559..100200996 [NCBI36] Chr15:15q26.3	pathogenic
GRCh38/hg38 15q26.3(chr15:98926805-101843270)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053248]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053248]\|See cases [RCV000053248]	Chr15:98926805..101843270 [GRCh38] Chr15:99470034..102383473 [GRCh37] Chr15:97287557..100200996 [NCBI36] Chr15:15q26.3	pathogenic
GRCh38/hg38 15q26.3(chr15:100126374-101843270)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053249]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053249]\|See cases [RCV000053249]	Chr15:100126374..101843270 [GRCh38] Chr15:100666579..102383473 [GRCh37] Chr15:98484102..100200996 [NCBI36] Chr15:15q26.3	pathogenic
GRCh38/hg38 15q26.3(chr15:100222791-101843270)x1	copy number loss	See cases [RCV000053250]	Chr15:100222791..101843270 [GRCh38] Chr15:100762996..102383473 [GRCh37] Chr15:98580519..100200996 [NCBI36] Chr15:15q26.3	pathogenic
GRCh38/hg38 15q26.3(chr15:101621277-101666176)x3	copy number gain	See cases [RCV000133782]	Chr15:101621277..101666176 [GRCh38] Chr15:102161480..102206379 [GRCh37] Chr15:99979003..100023902 [NCBI36] Chr15:15q26.3	benign
GRCh38/hg38 15q26.1-26.3(chr15:93198717-101843270)x1	copy number loss	See cases [RCV000133733]	Chr15:93198717..101843270 [GRCh38] Chr15:93741946..102383473 [GRCh37] Chr15:91542950..100200996 [NCBI36] Chr15:15q26.1-26.3	pathogenic
GRCh38/hg38 15q26.3(chr15:101621277-101708810)x3	copy number gain	See cases [RCV000133748]	Chr15:101621277..101708810 [GRCh38] Chr15:102161480..102249013 [GRCh37] Chr15:99979003..100066536 [NCBI36] Chr15:15q26.3	benign
GRCh38/hg38 15q26.3(chr15:101621303-101711860)x3	copy number gain	See cases [RCV000134052]	Chr15:101621303..101711860 [GRCh38] Chr15:102161506..102252063 [GRCh37] Chr15:99979029..100069586 [NCBI36] Chr15:15q26.3	benign\|likely benign\|conflicting data from submitters
GRCh38/hg38 15q26.3(chr15:101500643-101716531)x3	copy number gain	See cases [RCV000134020]	Chr15:101500643..101716531 [GRCh38] Chr15:102040846..102256734 [GRCh37] Chr15:99858369..100074257 [NCBI36] Chr15:15q26.3	benign
GRCh38/hg38 15q26.2-26.3(chr15:97014065-101843270)x1	copy number loss	See cases [RCV000135397]	Chr15:97014065..101843270 [GRCh38] Chr15:97557295..102383473 [GRCh37] Chr15:95358299..100200996 [NCBI36] Chr15:15q26.2-26.3	pathogenic
GRCh38/hg38 15q26.3(chr15:99155987-101843270)x1	copy number loss	See cases [RCV000134969]	Chr15:99155987..101843270 [GRCh38] Chr15:99696192..102383473 [GRCh37] Chr15:97513715..100200996 [NCBI36] Chr15:15q26.3	pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	copy number gain	See cases [RCV000135858]	Chr15:83711377..101843270 [GRCh38] Chr15:84380129..102383473 [GRCh37] Chr15:82171133..100200996 [NCBI36] Chr15:15q25.2-26.3	pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	copy number gain	See cases [RCV000135568]	Chr15:87904735..101843270 [GRCh38] Chr15:88447966..102383473 [GRCh37] Chr15:86248970..100200996 [NCBI36] Chr15:15q25.3-26.3	pathogenic
GRCh38/hg38 15q26.3(chr15:101474129-101716545)x3	copy number gain	See cases [RCV000136481]	Chr15:101474129..101716545 [GRCh38] Chr15:102014334..102256748 [GRCh37] Chr15:99831857..100074271 [NCBI36] Chr15:15q26.3	benign
GRCh38/hg38 15q26.3(chr15:101500777-101723215)x3	copy number gain	See cases [RCV000136490]	Chr15:101500777..101723215 [GRCh38] Chr15:102040980..102263418 [GRCh37] Chr15:99858503..100080941 [NCBI36] Chr15:15q26.3	benign
GRCh38/hg38 15q26.3(chr15:101694128-101723186)x3	copy number gain	See cases [RCV000136339]	Chr15:101694128..101723186 [GRCh38] Chr15:102234331..102263389 [GRCh37] Chr15:100051854..100080912 [NCBI36] Chr15:15q26.3	benign
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	copy number gain	See cases [RCV000136849]	Chr15:82859676..101810992 [GRCh38] Chr15:83528428..102351195 [GRCh37] Chr15:81325482..100168718 [NCBI36] Chr15:15q25.2-26.3	pathogenic
GRCh38/hg38 15q26.3(chr15:101686039-101723215)x3	copy number gain	See cases [RCV000137051]	Chr15:101686039..101723215 [GRCh38] Chr15:102226242..102263418 [GRCh37] Chr15:100043765..100080941 [NCBI36] Chr15:15q26.3	conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 15q26.2-26.3(chr15:95770627-101810992)x1	copy number loss	See cases [RCV000136864]	Chr15:95770627..101810992 [GRCh38] Chr15:96313856..102351195 [GRCh37] Chr15:94114860..100168718 [NCBI36] Chr15:15q26.2-26.3	pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	copy number gain	See cases [RCV000137264]	Chr15:85826665..101920998 [GRCh38] Chr15:86369896..102461201 [GRCh37] Chr15:84170900..100278724 [NCBI36] Chr15:15q25.3-26.3	pathogenic
GRCh38/hg38 15q26.3(chr15:101395560-101843276)x3	copy number gain	See cases [RCV000138383]	Chr15:101395560..101843276 [GRCh38] Chr15:101935765..102383479 [GRCh37] Chr15:99753288..100201002 [NCBI36] Chr15:15q26.3	likely benign
GRCh38/hg38 15q26.3(chr15:101608448-101716531)x3	copy number gain	See cases [RCV000138968]	Chr15:101608448..101716531 [GRCh38] Chr15:102148651..102256734 [GRCh37] Chr15:99966174..100074257 [NCBI36] Chr15:15q26.3	likely benign
GRCh38/hg38 15q26.2-26.3(chr15:97941427-101797926)x1	copy number loss	See cases [RCV000139666]	Chr15:97941427..101797926 [GRCh38] Chr15:98484657..102338129 [GRCh37] Chr15:96285661..100155652 [NCBI36] Chr15:15q26.2-26.3	pathogenic
GRCh38/hg38 15q26.3(chr15:101685919-101843276)x1	copy number loss	See cases [RCV000139541]	Chr15:101685919..101843276 [GRCh38] Chr15:102226122..102383479 [GRCh37] Chr15:100043645..100201002 [NCBI36] Chr15:15q26.3	likely benign
GRCh38/hg38 15q26.2-26.3(chr15:97172754-101920998)x1	copy number loss	See cases [RCV000141263]	Chr15:97172754..101920998 [GRCh38] Chr15:97715984..102461201 [GRCh37] Chr15:95516988..100278724 [NCBI36] Chr15:15q26.2-26.3	pathogenic
GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3	copy number gain	See cases [RCV000141431]	Chr15:93041524..101941326 [GRCh38] Chr15:93584754..102481529 [GRCh37] Chr15:91385758..100299052 [NCBI36] Chr15:15q26.1-26.3	pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:97283711-101920998)x3	copy number gain	See cases [RCV000140658]	Chr15:97283711..101920998 [GRCh38] Chr15:97826941..102461201 [GRCh37] Chr15:95627945..100278724 [NCBI36] Chr15:15q26.2-26.3	likely pathogenic
GRCh38/hg38 15q26.3(chr15:101621199-101888909)x1	copy number loss	See cases [RCV000141907]	Chr15:101621199..101888909 [GRCh38] Chr15:102161402..102429112 [GRCh37] Chr15:99978925..100246635 [NCBI36] Chr15:15q26.3	likely benign\|uncertain significance
GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	copy number gain	See cases [RCV000141899]	Chr15:85397539..101888909 [GRCh38] Chr15:85940770..102429112 [GRCh37] Chr15:83741774..100246635 [NCBI36] Chr15:15q25.3-26.3	pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	copy number gain	See cases [RCV000143019]	Chr15:72154949..101920998 [GRCh38] Chr15:72447290..102461201 [GRCh37] Chr15:70234344..100278724 [NCBI36] Chr15:15q23-26.3	pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	copy number gain	See cases [RCV000142915]	Chr15:59828460..101920998 [GRCh38] Chr15:60120659..102461201 [GRCh37] Chr15:57907951..100278724 [NCBI36] Chr15:15q22.2-26.3	pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:96024127-101920998)x1	copy number loss	See cases [RCV000143088]	Chr15:96024127..101920998 [GRCh38] Chr15:96567356..102461201 [GRCh37] Chr15:94368360..100278724 [NCBI36] Chr15:15q26.2-26.3	pathogenic
GRCh38/hg38 15q26.3(chr15:101552822-101843270)x1	copy number loss	See cases [RCV000142767]	Chr15:101552822..101843270 [GRCh38] Chr15:102093025..102383473 [GRCh37] Chr15:99910548..100200996 [NCBI36] Chr15:15q26.3	likely benign
GRCh38/hg38 15q26.3(chr15:99338283-101843270)x3	copy number gain	See cases [RCV000142579]	Chr15:99338283..101843270 [GRCh38] Chr15:99878488..102383473 [GRCh37] Chr15:97696011..100200996 [NCBI36] Chr15:15q26.3	pathogenic
GRCh38/hg38 15q26.3(chr15:98467297-101843270)x1	copy number loss	See cases [RCV000142728]	Chr15:98467297..101843270 [GRCh38] Chr15:99010526..102383473 [GRCh37] Chr15:96828049..100200996 [NCBI36] Chr15:15q26.3	pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:97681713-101920998)x1	copy number loss	See cases [RCV000143176]	Chr15:97681713..101920998 [GRCh38] Chr15:98224943..102461201 [GRCh37] Chr15:96025947..100278724 [NCBI36] Chr15:15q26.2-26.3	pathogenic
GRCh38/hg38 15q26.3(chr15:98280297-101888909)x3	copy number gain	See cases [RCV000143526]	Chr15:98280297..101888909 [GRCh38] Chr15:98823526..102429112 [GRCh37] Chr15:96641049..100246635 [NCBI36] Chr15:15q26.3	pathogenic
GRCh37/hg19 15q26.3(chr15:102251993-102461162)x3	copy number gain	Premature ovarian failure [RCV000225208]	Chr15:102251993..102461162 [GRCh37] Chr15:15q26.3	benign
GRCh37/hg19 15q26.2-26.3(chr15:98458265-102354857)x1	copy number loss	See cases [RCV000239905]	Chr15:98458265..102354857 [GRCh37] Chr15:15q26.2-26.3	pathogenic
GRCh37/hg19 15q26.3(chr15:101645331-102263418)x3	copy number gain	See cases [RCV000239911]	Chr15:101645331..102263418 [GRCh37] Chr15:15q26.3	uncertain significance
GRCh37/hg19 15q26.1-26.3(chr15:92197136-102354857)x1	copy number loss	See cases [RCV000240535]	Chr15:92197136..102354857 [GRCh37] Chr15:15q26.1-26.3	pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	copy number gain	See cases [RCV000240602]	Chr15:64637227..102509910 [GRCh37] Chr15:15q22.31-26.3	pathogenic
NM_152334.3(TARS3):c.808G>A (p.Asp270Asn)	single nucleotide variant	not specified [RCV004288297]	Chr15:101711884 [GRCh38] Chr15:102252087 [GRCh37] Chr15:15q26.3	uncertain significance
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	copy number gain	not provided [RCV000415836]	Chr15:59297293..102480888 [GRCh37] Chr15:15q22.1-26.3	likely pathogenic
GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3	copy number gain	See cases [RCV000449119]	Chr15:85089467..102495441 [GRCh37] Chr15:15q25.2-26.3	pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	copy number gain	See cases [RCV000447123]	Chr15:41745084..102354798 [GRCh37] Chr15:15q15.1-26.3	pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90346994-102354798)	copy number loss	See cases [RCV000447603]	Chr15:90346994..102354798 [GRCh37] Chr15:15q26.1-26.3	pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:95238218-102429112)x1	copy number loss	See cases [RCV000446457]	Chr15:95238218..102429112 [GRCh37] Chr15:15q26.2-26.3	pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:89924847-102429112)x3	copy number gain	See cases [RCV000445978]	Chr15:89924847..102429112 [GRCh37] Chr15:15q26.1-26.3	pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:94782891-102429112)x1	copy number loss	See cases [RCV000445764]	Chr15:94782891..102429112 [GRCh37] Chr15:15q26.2-26.3	pathogenic
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3	copy number gain	See cases [RCV000445705]	Chr15:80648093..102429112 [GRCh37] Chr15:15q25.1-26.3	pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	copy number gain	See cases [RCV000447765]	Chr15:20733395..102511616 [GRCh37] Chr15:15q11.2-26.3	pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3	copy number gain	See cases [RCV000448044]	Chr15:86148286..102511616 [GRCh37] Chr15:15q25.3-26.3	pathogenic
NC_000015.9:g.(?_100885379)_(102399948_?)dup	duplication	Schizophrenia [RCV000416623]	Chr15:100885379..102399948 [GRCh37] Chr15:98702902..100217471 [NCBI36] Chr15:15q26.3	likely pathogenic
GRCh37/hg19 15q26.3(chr15:98818228-102399760)	copy number loss	See cases [RCV000447813]	Chr15:98818228..102399760 [GRCh37] Chr15:15q26.3	pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:97223728-102429112)x1	copy number loss	See cases [RCV000448857]	Chr15:97223728..102429112 [GRCh37] Chr15:15q26.2-26.3	pathogenic
GRCh37/hg19 15q26.3(chr15:101124214-102429112)x1	copy number loss	See cases [RCV000510246]	Chr15:101124214..102429112 [GRCh37] Chr15:15q26.3	likely benign
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	copy number gain	See cases [RCV000510717]	Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3	pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:96913435-102429112)x1	copy number loss	See cases [RCV000510663]	Chr15:96913435..102429112 [GRCh37] Chr15:15q26.2-26.3	pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	copy number gain	See cases [RCV000512019]	Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3	pathogenic
GRCh37/hg19 15q26.3(chr15:101569237-102344434)x3	copy number gain	See cases [RCV000511628]	Chr15:101569237..102344434 [GRCh37] Chr15:15q26.3	uncertain significance
GRCh37/hg19 15q26.1-26.3(chr15:93148806-102429112)x3	copy number gain	See cases [RCV000511719]	Chr15:93148806..102429112 [GRCh37] Chr15:15q26.1-26.3	pathogenic
GRCh37/hg19 15q26.3(chr15:100564922-102399548)x1	copy number loss	See cases [RCV000511119]	Chr15:100564922..102399548 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.1301C>T (p.Thr434Met)	single nucleotide variant	not specified [RCV004292705]	Chr15:101701105 [GRCh38] Chr15:102241308 [GRCh37] Chr15:15q26.3	uncertain significance
Single allele	duplication	not provided [RCV000677926]	Chr15:31115047..102354857 [GRCh37] Chr15:15q13.2-26.3	pathogenic
NM_152334.3(TARS3):c.671A>G (p.Asp224Gly)	single nucleotide variant	not specified [RCV004300693]	Chr15:101714859 [GRCh38] Chr15:102255062 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.2350A>G (p.Ile784Val)	single nucleotide variant	not specified [RCV004317348]	Chr15:101654641 [GRCh38] Chr15:102194844 [GRCh37] Chr15:15q26.3	uncertain significance
GRCh37/hg19 15q26.2-26.3(chr15:98220018-102429112)x1	copy number loss	See cases [RCV000512353]	Chr15:98220018..102429112 [GRCh37] Chr15:15q26.2-26.3	pathogenic
GRCh37/hg19 15q26.3(chr15:101238481-102429112)x1	copy number loss	See cases [RCV000512205]	Chr15:101238481..102429112 [GRCh37] Chr15:15q26.3	uncertain significance
GRCh37/hg19 15q26.3(chr15:98737093-102429112)x1	copy number loss	See cases [RCV000512437]	Chr15:98737093..102429112 [GRCh37] Chr15:15q26.3	pathogenic
GRCh37/hg19 15q26.3(chr15:102040980-102310654)x3	copy number gain	not provided [RCV000659200]	Chr15:102040980..102310654 [GRCh37] Chr15:15q26.3	likely benign
GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3	copy number gain	not provided [RCV000683718]	Chr15:89743929..102429112 [GRCh37] Chr15:15q26.1-26.3	pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	copy number gain	not provided [RCV000683703]	Chr15:71329220..102270758 [GRCh37] Chr15:15q23-26.3	pathogenic
GRCh37/hg19 15q26.3(chr15:100526020-102429112)x1	copy number loss	not provided [RCV000683730]	Chr15:100526020..102429112 [GRCh37] Chr15:15q26.3	uncertain significance
GRCh37/hg19 15q26.3(chr15:99928623-102429112)x3	copy number gain	not provided [RCV000683726]	Chr15:99928623..102429112 [GRCh37] Chr15:15q26.3	likely pathogenic
GRCh37/hg19 15q26.3(chr15:101734079-102429112)x3	copy number gain	not provided [RCV000683736]	Chr15:101734079..102429112 [GRCh37] Chr15:15q26.3	likely benign\|uncertain significance
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	copy number gain	not provided [RCV000683710]	Chr15:77479244..102429112 [GRCh37] Chr15:15q24.3-26.3	pathogenic
GRCh37/hg19 15q26.3(chr15:102006937-102331052)x1	copy number loss	not provided [RCV000683737]	Chr15:102006937..102331052 [GRCh37] Chr15:15q26.3	likely benign
GRCh37/hg19 15q25.3-26.3(chr15:88385150-102461162)x3	copy number gain	not provided [RCV000738864]	Chr15:88385150..102461162 [GRCh37] Chr15:15q25.3-26.3	pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3	copy number gain	not provided [RCV000751156]	Chr15:20071673..102461162 [GRCh37] Chr15:15q11.1-26.3	pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90277151-102376761)x3	copy number gain	not provided [RCV000751387]	Chr15:90277151..102376761 [GRCh37] Chr15:15q26.1-26.3	pathogenic
GRCh37/hg19 15q26.3(chr15:102035267-102461162)x3	copy number gain	not provided [RCV000751431]	Chr15:102035267..102461162 [GRCh37] Chr15:15q26.3	benign
GRCh37/hg19 15q26.3(chr15:102144622-102326466)x3	copy number gain	not provided [RCV000751433]	Chr15:102144622..102326466 [GRCh37] Chr15:15q26.3	benign
GRCh37/hg19 15q26.3(chr15:102152042-102210971)x1	copy number loss	not provided [RCV000751434]	Chr15:102152042..102210971 [GRCh37] Chr15:15q26.3	benign
GRCh37/hg19 15q26.3(chr15:102157749-102255795)x3	copy number gain	not provided [RCV000751435]	Chr15:102157749..102255795 [GRCh37] Chr15:15q26.3	benign
GRCh37/hg19 15q26.3(chr15:102157749-102277592)x3	copy number gain	not provided [RCV000751436]	Chr15:102157749..102277592 [GRCh37] Chr15:15q26.3	benign
GRCh37/hg19 15q26.3(chr15:102172952-102258537)x3	copy number gain	not provided [RCV000751437]	Chr15:102172952..102258537 [GRCh37] Chr15:15q26.3	benign
GRCh37/hg19 15q26.3(chr15:102219085-102359307)x1	copy number loss	not provided [RCV000751438]	Chr15:102219085..102359307 [GRCh37] Chr15:15q26.3	benign
GRCh37/hg19 15q26.3(chr15:102224341-102288471)x3	copy number gain	not provided [RCV000751439]	Chr15:102224341..102288471 [GRCh37] Chr15:15q26.3	benign
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3	copy number gain	not provided [RCV000751155]	Chr15:20016811..102493540 [GRCh37] Chr15:15q11.1-26.3	pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:96873212-102389423)	copy number loss	not provided [RCV000767761]	Chr15:96873212..102389423 [GRCh37] Chr15:15q26.2-26.3	pathogenic
GRCh37/hg19 15q26.3(chr15:102151436-102224341)x1	copy number loss	not provided [RCV000847817]	Chr15:102151436..102224341 [GRCh37] Chr15:15q26.3	uncertain significance
GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3	copy number gain	not provided [RCV000846885]	Chr15:90288175..102429112 [GRCh37] Chr15:15q26.1-26.3	pathogenic
GRCh37/hg19 15q26.3(chr15:102151468-102224341)x1	copy number loss	not provided [RCV000845707]	Chr15:102151468..102224341 [GRCh37] Chr15:15q26.3	uncertain significance
GRCh37/hg19 15q26.3(chr15:102065746-102429112)x1	copy number loss	not provided [RCV000845723]	Chr15:102065746..102429112 [GRCh37] Chr15:15q26.3	uncertain significance
GRCh37/hg19 15q26.3(chr15:101696490-102311245)x3	copy number gain	not provided [RCV000848225]	Chr15:101696490..102311245 [GRCh37] Chr15:15q26.3	uncertain significance
GRCh37/hg19 15q26.3(chr15:98686212-102429112)x1	copy number loss	not provided [RCV001006729]	Chr15:98686212..102429112 [GRCh37] Chr15:15q26.3	pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1	copy number loss	not provided [RCV001006718]	Chr15:87189245..102429112 [GRCh37] Chr15:15q25.3-26.3	pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:96878099-102397836)x1	copy number loss	Chromosome 15q26-qter deletion syndrome [RCV000993689]	Chr15:96878099..102397836 [GRCh37] Chr15:15q26.2-26.3	pathogenic
GRCh37/hg19 15q26.3(chr15:98795669-102429112)x1	copy number loss	not provided [RCV001006730]	Chr15:98795669..102429112 [GRCh37] Chr15:15q26.3	pathogenic
NM_152334.3(TARS3):c.1021A>G (p.Lys341Glu)	single nucleotide variant	not specified [RCV004292939]	Chr15:101703912 [GRCh38] Chr15:102244115 [GRCh37] Chr15:15q26.3	uncertain significance
GRCh37/hg19 15q26.3(chr15:101683593-102270458)x3	copy number gain	not provided [RCV001259823]	Chr15:101683593..102270458 [GRCh37] Chr15:15q26.3	likely benign
GRCh37/hg19 15q26.2-26.3(chr15:98275761-102358202)x1	copy number loss	not provided [RCV001259819]	Chr15:98275761..102358202 [GRCh37] Chr15:15q26.2-26.3	pathogenic
GRCh37/hg19 15q26.3(chr15:100853021-102429112)x1	copy number loss	not provided [RCV001259829]	Chr15:100853021..102429112 [GRCh37] Chr15:15q26.3	uncertain significance
GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1	copy number loss	See cases [RCV001263026]	Chr15:86962053..102531392 [GRCh37] Chr15:15q25.3-26.3	pathogenic
GRCh37/hg19 15q26.3(chr15:102194980-102278574)x1	copy number loss	not provided [RCV001834206]	Chr15:102194980..102278574 [GRCh37] Chr15:15q26.3	likely benign
GRCh37/hg19 15q26.3(chr15:102151037-102224601)x1	copy number loss	not provided [RCV001834271]	Chr15:102151037..102224601 [GRCh37] Chr15:15q26.3	likely benign
GRCh37/hg19 15q26.3(chr15:101783340-102429112)x3	copy number gain	not provided [RCV001832991]	Chr15:101783340..102429112 [GRCh37] Chr15:15q26.3	likely benign
GRCh37/hg19 15q26.3(chr15:101659856-102429112)x3	copy number gain	not provided [RCV001827780]	Chr15:101659856..102429112 [GRCh37] Chr15:15q26.3	likely benign\|uncertain significance
GRCh37/hg19 15q26.3(chr15:101876976-102209916)x3	copy number gain	not provided [RCV001827695]	Chr15:101876976..102209916 [GRCh37] Chr15:15q26.3	likely benign
GRCh37/hg19 15q26.2-26.3(chr15:97026327-102429112)	copy number loss	not specified [RCV002052490]	Chr15:97026327..102429112 [GRCh37] Chr15:15q26.2-26.3	pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:97223728-102429112)	copy number loss	not specified [RCV002052491]	Chr15:97223728..102429112 [GRCh37] Chr15:15q26.2-26.3	pathogenic
GRCh37/hg19 15q26.3(chr15:99258367-102429112)	copy number loss	not specified [RCV002052494]	Chr15:99258367..102429112 [GRCh37] Chr15:15q26.3	pathogenic
NM_152334.3(TARS3):c.823A>G (p.Ser275Gly)	single nucleotide variant	not specified [RCV004248148]	Chr15:101708900 [GRCh38] Chr15:102249103 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.1507C>T (p.Pro503Ser)	single nucleotide variant	not specified [RCV004277782]	Chr15:101684218 [GRCh38] Chr15:102224421 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.2065G>A (p.Gly689Arg)	single nucleotide variant	not specified [RCV004253672]	Chr15:101661719 [GRCh38] Chr15:102201922 [GRCh37] Chr15:15q26.3	uncertain significance
GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	copy number gain	not provided [RCV003222840]	Chr15:84228005..102264590 [GRCh37] Chr15:15q25.2-26.3	pathogenic
NM_152334.3(TARS3):c.1345A>C (p.Thr449Pro)	single nucleotide variant	not specified [RCV004264242]	Chr15:101686038 [GRCh38] Chr15:102226241 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.2380C>G (p.Arg794Gly)	single nucleotide variant	not specified [RCV004319464]	Chr15:101654611 [GRCh38] Chr15:102194814 [GRCh37] Chr15:15q26.3	uncertain significance
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	copy number gain	See cases [RCV003329502]	Chr15:75165490..102520892 [GRCh37] Chr15:15q24.1-26.3	pathogenic
NM_152334.3(TARS3):c.794A>G (p.Asp265Gly)	single nucleotide variant	not specified [RCV004344622]	Chr15:101711898 [GRCh38] Chr15:102252101 [GRCh37] Chr15:15q26.3	uncertain significance
Single allele	deletion	not provided [RCV003448683]	Chr15:98565904..102400021 [GRCh37] Chr15:15q26.3	pathogenic
NM_152334.3(TARS3):c.587C>T (p.Thr196Met)	single nucleotide variant	not provided [RCV003395072]	Chr15:101714943 [GRCh38] Chr15:102255146 [GRCh37] Chr15:15q26.3	likely benign
GRCh37/hg19 15q26.3(chr15:101919415-102429112)x1	copy number loss	not provided [RCV003483252]	Chr15:101919415..102429112 [GRCh37] Chr15:15q26.3	uncertain significance
GRCh37/hg19 15q26.3(chr15:98679543-102429112)x1	copy number loss	not specified [RCV003987093]	Chr15:98679543..102429112 [GRCh37] Chr15:15q26.3	pathogenic
NM_152334.3(TARS3):c.2093G>A (p.Arg698His)	single nucleotide variant	not specified [RCV004469227]	Chr15:101657837 [GRCh38] Chr15:102198040 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.1051A>G (p.Ile351Val)	single nucleotide variant	not specified [RCV004469210]	Chr15:101703882 [GRCh38] Chr15:102244085 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.1759G>A (p.Glu587Lys)	single nucleotide variant	not specified [RCV004469224]	Chr15:101675629 [GRCh38] Chr15:102215832 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.2153G>A (p.Ser718Asn)	single nucleotide variant	not specified [RCV004469230]	Chr15:101657029 [GRCh38] Chr15:102197232 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.2303G>A (p.Arg768Gln)	single nucleotide variant	not specified [RCV004469237]	Chr15:101654688 [GRCh38] Chr15:102194891 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.257A>G (p.Glu86Gly)	single nucleotide variant	not specified [RCV004469238]	Chr15:101724131 [GRCh38] Chr15:102264334 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.629G>A (p.Arg210His)	single nucleotide variant	not specified [RCV004469244]	Chr15:101714901 [GRCh38] Chr15:102255104 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.2206A>G (p.Thr736Ala)	single nucleotide variant	not specified [RCV004469231]	Chr15:101656976 [GRCh38] Chr15:102197179 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.2227A>T (p.Asn743Tyr)	single nucleotide variant	not specified [RCV004469233]	Chr15:101656955 [GRCh38] Chr15:102197158 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.368A>T (p.Glu123Val)	single nucleotide variant	not specified [RCV004469239]	Chr15:101723094 [GRCh38] Chr15:102263297 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.976G>T (p.Ala326Ser)	single nucleotide variant	not specified [RCV004469250]	Chr15:101705702 [GRCh38] Chr15:102245905 [GRCh37] Chr15:15q26.3	uncertain significance
GRCh37/hg19 15q26.3(chr15:98615561-102400033)x1	copy number loss	not provided [RCV004577491]	Chr15:98615561..102400033 [GRCh37] Chr15:15q26.3	pathogenic
NM_152334.3(TARS3):c.1103C>T (p.Pro368Leu)	single nucleotide variant	not specified [RCV004469211]	Chr15:101702357 [GRCh38] Chr15:102242560 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.1390G>C (p.Ala464Pro)	single nucleotide variant	not specified [RCV004469217]	Chr15:101685993 [GRCh38] Chr15:102226196 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.1454T>C (p.Phe485Ser)	single nucleotide variant	not specified [RCV004469218]	Chr15:101685929 [GRCh38] Chr15:102226132 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.146G>T (p.Cys49Phe)	single nucleotide variant	not specified [RCV004469219]	Chr15:101724242 [GRCh38] Chr15:102264445 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.2011G>A (p.Ala671Thr)	single nucleotide variant	not specified [RCV004469226]	Chr15:101661773 [GRCh38] Chr15:102201976 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.2152A>G (p.Ser718Gly)	single nucleotide variant	not specified [RCV004469229]	Chr15:101657030 [GRCh38] Chr15:102197233 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.227C>T (p.Ala76Val)	single nucleotide variant	not specified [RCV004469236]	Chr15:101724161 [GRCh38] Chr15:102264364 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.370G>T (p.Val124Leu)	single nucleotide variant	not specified [RCV004469240]	Chr15:101721322 [GRCh38] Chr15:102261525 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.391A>G (p.Ile131Val)	single nucleotide variant	not specified [RCV004469241]	Chr15:101721301 [GRCh38] Chr15:102261504 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.628C>A (p.Arg210Ser)	single nucleotide variant	not specified [RCV004469243]	Chr15:101714902 [GRCh38] Chr15:102255105 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.1025G>A (p.Gly342Asp)	single nucleotide variant	not specified [RCV004469209]	Chr15:101703908 [GRCh38] Chr15:102244111 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.1286C>G (p.Ala429Gly)	single nucleotide variant	not specified [RCV004469212]	Chr15:101701120 [GRCh38] Chr15:102241323 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.131A>G (p.Gln44Arg)	single nucleotide variant	not specified [RCV004469213]	Chr15:101724257 [GRCh38] Chr15:102264460 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.1346C>T (p.Thr449Met)	single nucleotide variant	not specified [RCV004469214]	Chr15:101686037 [GRCh38] Chr15:102226240 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.134C>A (p.Ala45Glu)	single nucleotide variant	not specified [RCV004469215]	Chr15:101724254 [GRCh38] Chr15:102264457 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.134C>G (p.Ala45Gly)	single nucleotide variant	not specified [RCV004469216]	Chr15:101724254 [GRCh38] Chr15:102264457 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.2095C>A (p.Gln699Lys)	single nucleotide variant	not specified [RCV004469228]	Chr15:101657835 [GRCh38] Chr15:102198038 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.2221A>C (p.Ile741Leu)	single nucleotide variant	not specified [RCV004469232]	Chr15:101656961 [GRCh38] Chr15:102197164 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.2245T>C (p.Tyr749His)	single nucleotide variant	not specified [RCV004469234]	Chr15:101656937 [GRCh38] Chr15:102197140 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.2264T>C (p.Val755Ala)	single nucleotide variant	not specified [RCV004469235]	Chr15:101654727 [GRCh38] Chr15:102194930 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.415G>A (p.Glu139Lys)	single nucleotide variant	not specified [RCV004469242]	Chr15:101721277 [GRCh38] Chr15:102261480 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.817G>A (p.Val273Met)	single nucleotide variant	not specified [RCV004469248]	Chr15:101708906 [GRCh38] Chr15:102249109 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.1721A>G (p.Gln574Arg)	single nucleotide variant	not specified [RCV004681954]	Chr15:101675667 [GRCh38] Chr15:102215870 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.370G>A (p.Val124Met)	single nucleotide variant	not specified [RCV004673229]	Chr15:101721322 [GRCh38] Chr15:102261525 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.1156A>G (p.Met386Val)	single nucleotide variant	not specified [RCV004673227]	Chr15:101702304 [GRCh38] Chr15:102242507 [GRCh37] Chr15:15q26.3	uncertain significance
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	copy number gain	See cases [RCV000511332]	Chr15:76061144..102429112 [GRCh37] Chr15:15q24.2-26.3	pathogenic
GRCh37/hg19 15q26.3(chr15:101862163-102215765)x3	copy number gain	not provided [RCV000738902]	Chr15:101862163..102215765 [GRCh37] Chr15:15q26.3	benign
GRCh37/hg19 15q26.3(chr15:102028468-102288471)x3	copy number gain	not provided [RCV000738912]	Chr15:102028468..102288471 [GRCh37] Chr15:15q26.3	benign
GRCh37/hg19 15q26.3(chr15:102028468-102305129)x3	copy number gain	not provided [RCV000738913]	Chr15:102028468..102305129 [GRCh37] Chr15:15q26.3	benign
GRCh37/hg19 15q26.1-26.3(chr15:92335751-102399741)x1	copy number loss	not provided [RCV001537887]	Chr15:92335751..102399741 [GRCh37] Chr15:15q26.1-26.3	pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:94176550-102429112)x3	copy number gain	not specified [RCV003987113]	Chr15:94176550..102429112 [GRCh37] Chr15:15q26.1-26.3	pathogenic
NM_152334.3(TARS3):c.730A>G (p.Met244Val)	single nucleotide variant	not specified [RCV004469247]	Chr15:101711962 [GRCh38] Chr15:102252165 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.1497T>A (p.Phe499Leu)	single nucleotide variant	not specified [RCV004469220]	Chr15:101684228 [GRCh38] Chr15:102224431 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.1905T>G (p.His635Gln)	single nucleotide variant	not specified [RCV004469225]	Chr15:101671548 [GRCh38] Chr15:102211751 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.691G>T (p.Val231Leu)	single nucleotide variant	not specified [RCV004469246]	Chr15:101712001 [GRCh38] Chr15:102252204 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.880C>T (p.Pro294Ser)	single nucleotide variant	not specified [RCV004469249]	Chr15:101708843 [GRCh38] Chr15:102249046 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.1505G>A (p.Arg502His)	single nucleotide variant	not specified [RCV004469221]	Chr15:101684220 [GRCh38] Chr15:102224423 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.1565A>G (p.Asn522Ser)	single nucleotide variant	not specified [RCV004469222]	Chr15:101684160 [GRCh38] Chr15:102224363 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.1606C>T (p.Arg536Cys)	single nucleotide variant	not specified [RCV004469223]	Chr15:101684119 [GRCh38] Chr15:102224322 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.605A>G (p.Asn202Ser)	single nucleotide variant	not specified [RCV004673222]	Chr15:101714925 [GRCh38] Chr15:102255128 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.1091G>T (p.Trp364Leu)	single nucleotide variant	not specified [RCV004673223]	Chr15:101702369 [GRCh38] Chr15:102242572 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.1524A>C (p.Glu508Asp)	single nucleotide variant	not specified [RCV004673224]	Chr15:101684201 [GRCh38] Chr15:102224404 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.356A>C (p.Glu119Ala)	single nucleotide variant	not specified [RCV004673225]	Chr15:101723106 [GRCh38] Chr15:102263309 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.107A>C (p.Gln36Pro)	single nucleotide variant	not specified [RCV004673226]	Chr15:101724281 [GRCh38] Chr15:102264484 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.2009G>A (p.Arg670Gln)	single nucleotide variant	not specified [RCV004673228]	Chr15:101661775 [GRCh38] Chr15:102201978 [GRCh37] Chr15:15q26.3	uncertain significance
GRCh37/hg19 15q26.1-26.3(chr15:93918298-102429112)x1	copy number loss	not provided [RCV004819384]	Chr15:93918298..102429112 [GRCh37] Chr15:15q26.1-26.3	pathogenic
NM_152334.3(TARS3):c.367G>A (p.Glu123Lys)	single nucleotide variant	not specified [RCV004866456]	Chr15:101723095 [GRCh38] Chr15:102263298 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.470A>T (p.Asp157Val)	single nucleotide variant	not specified [RCV004866457]	Chr15:101721222 [GRCh38] Chr15:102261425 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.2012C>T (p.Ala671Val)	single nucleotide variant	not specified [RCV004866458]	Chr15:101661772 [GRCh38] Chr15:102201975 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.1331A>G (p.His444Arg)	single nucleotide variant	not specified [RCV004866459]	Chr15:101686052 [GRCh38] Chr15:102226255 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.808G>T (p.Asp270Tyr)	single nucleotide variant	not specified [RCV004866460]	Chr15:101711884 [GRCh38] Chr15:102252087 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.236G>A (p.Arg79Gln)	single nucleotide variant	not specified [RCV004866461]	Chr15:101724152 [GRCh38] Chr15:102264355 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.1915A>G (p.Thr639Ala)	single nucleotide variant	not specified [RCV004866462]	Chr15:101671538 [GRCh38] Chr15:102211741 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.1298A>G (p.Asn433Ser)	single nucleotide variant	not specified [RCV004866463]	Chr15:101701108 [GRCh38] Chr15:102241311 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.2111C>T (p.Pro704Leu)	single nucleotide variant	not specified [RCV004866464]	Chr15:101657819 [GRCh38] Chr15:102198022 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.287C>A (p.Ala96Asp)	single nucleotide variant	not specified [RCV004866465]	Chr15:101724101 [GRCh38] Chr15:102264304 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.1360C>G (p.Pro454Ala)	single nucleotide variant	not specified [RCV004866466]	Chr15:101686023 [GRCh38] Chr15:102226226 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.1272C>G (p.Phe424Leu)	single nucleotide variant	not specified [RCV004866467]	Chr15:101701134 [GRCh38] Chr15:102241337 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.8C>G (p.Ala3Gly)	single nucleotide variant	not specified [RCV004877972]	Chr15:101724380 [GRCh38] Chr15:102264583 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.2126G>A (p.Cys709Tyr)	single nucleotide variant	not specified [RCV004866468]	Chr15:101657804 [GRCh38] Chr15:102198007 [GRCh37] Chr15:15q26.3	uncertain significance
NM_152334.3(TARS3):c.545A>G (p.Tyr182Cys)	single nucleotide variant	not specified [RCV004866469]	Chr15:101721147 [GRCh38] Chr15:102261350 [GRCh37] Chr15:15q26.3	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	7205
Count of miRNA genes:	1127
Interacting mature miRNAs:	1419
Transcripts:	ENST00000335574, ENST00000340852, ENST00000344042, ENST00000376127, ENST00000398174, ENST00000460225, ENST00000460389, ENST00000464173, ENST00000464508, ENST00000464661, ENST00000466766, ENST00000468559, ENST00000469097, ENST00000469126, ENST00000472128, ENST00000474466, ENST00000479096, ENST00000483310, ENST00000487281, ENST00000487964, ENST00000492709, ENST00000493364, ENST00000494153, ENST00000496438, ENST00000498035
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597420891	GWAS1516965_H	systolic blood pressure QTL GWAS1516965 (human)		3e-11	systolic blood pressure	systolic blood pressure (CMO:0000004)	20	31552083	31552084	Human
597295611	GWAS1391685_H	mean arterial pressure QTL GWAS1391685 (human)		1e-08	mean arterial pressure	mean arterial blood pressure (CMO:0000009)	20	31530153	31530154	Human
597252667	GWAS1348741_H	platelet count QTL GWAS1348741 (human)		2e-10	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	20	31546015	31546016	Human
597220539	GWAS1316613_H	cystatin C measurement QTL GWAS1316613 (human)		6e-15	cystatin C measurement	blood cystatin C level (CMO:0002777)	20	31527720	31527721	Human
597432255	GWAS1528329_H	protein measurement QTL GWAS1528329 (human)		4e-54	protein measurement		20	31527720	31527721	Human
597229051	GWAS1325125_H	heel bone mineral density QTL GWAS1325125 (human)		4e-11	heel bone mineral density	bone mineral density (CMO:0001226)	20	31530153	31530154	Human
596966291	GWAS1085810_H	diastolic blood pressure QTL GWAS1085810 (human)		5e-10	diastolic blood pressure		20	31530153	31530154	Human
596968125	GWAS1087644_H	systolic blood pressure QTL GWAS1087644 (human)		7e-10	systolic blood pressure		20	31530153	31530154	Human
597411730	GWAS1507804_H	apolipoprotein A 1 measurement QTL GWAS1507804 (human)		5e-11	apolipoprotein A 1 measurement	blood apolipoprotein AI level (CMO:0000520)	20	31555475	31555476	Human
597316624	GWAS1412698_H	diastolic blood pressure QTL GWAS1412698 (human)		5e-10	diastolic blood pressure	diastolic blood pressure (CMO:0000005)	20	31530153	31530154	Human
597087194	GWAS1183268_H	body mass index QTL GWAS1183268 (human)		2e-09	body mass index	body mass index (BMI) (CMO:0000105)	20	31527720	31527721	Human
597329271	GWAS1425345_H	body mass index QTL GWAS1425345 (human)		3e-09	body mass index	body mass index (BMI) (CMO:0000105)	20	31527720	31527721	Human
597173028	GWAS1269102_H	cystatin-F measurement QTL GWAS1269102 (human)		1e-16	blood cystatin amount (VT:0010742)		20	31517497	31517498	Human
597316132	GWAS1412206_H	systolic blood pressure QTL GWAS1412206 (human)		7e-10	systolic blood pressure	systolic blood pressure (CMO:0000004)	20	31530153	31530154	Human
597393476	GWAS1489550_H	high density lipoprotein cholesterol measurement QTL GWAS1489550 (human)		1e-08	high density lipoprotein cholesterol measurement	blood high density lipoprotein cholesterol level (CMO:0000052)	20	31555475	31555476	Human

RH79806

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	30,157,230 - 30,157,328	UniSTS	GRCh37
Build 36	20	29,620,891 - 29,620,989	RGD	NCBI36
Celera	20	26,913,411 - 26,913,509	RGD
Cytogenetic Map	20	q11.21	UniSTS
HuRef	20	26,945,590 - 26,945,688	UniSTS

RH103275

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	30,156,997 - 30,157,186	UniSTS	GRCh37
Build 36	20	29,620,658 - 29,620,847	RGD	NCBI36
Celera	20	26,913,178 - 26,913,367	RGD
Cytogenetic Map	20	q11.21	UniSTS
HuRef	20	26,945,357 - 26,945,546	UniSTS
GeneMap99-GB4 RH Map	20	167.8	UniSTS

G54135

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	30,156,940 - 30,157,064	UniSTS	GRCh37
Build 36	20	29,620,601 - 29,620,725	RGD	NCBI36
Celera	20	26,913,121 - 26,913,245	RGD
Cytogenetic Map	20	q11.21	UniSTS
HuRef	20	26,945,300 - 26,945,424	UniSTS

STS-D29243

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	30,150,699 - 30,150,820	UniSTS	GRCh37
Build 36	20	29,614,360 - 29,614,481	RGD	NCBI36
Celera	20	26,906,880 - 26,907,001	RGD
Cytogenetic Map	20	q11.21	UniSTS
HuRef	20	26,939,059 - 26,939,180	UniSTS
GeneMap99-GB4 RH Map	20	170.94	UniSTS

D1S3693

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	16	q24.3	UniSTS
Cytogenetic Map	22	q13.1	UniSTS
Cytogenetic Map	3	p22	UniSTS
Cytogenetic Map	22	q12.1	UniSTS
Cytogenetic Map	20	q11.21	UniSTS
Cytogenetic Map	21	q22.3	UniSTS
Cytogenetic Map	17	q25.3	UniSTS
Cytogenetic Map	13	q34	UniSTS
Cytogenetic Map	1	q22-q23	UniSTS
Cytogenetic Map	1	p36.21	UniSTS
Cytogenetic Map	19	p13	UniSTS
Cytogenetic Map	8	p21.3	UniSTS
Cytogenetic Map	20	q13.33	UniSTS
Cytogenetic Map	11	q13.2	UniSTS
Cytogenetic Map	12	p13.3	UniSTS
Cytogenetic Map	15	q14	UniSTS
Cytogenetic Map	6	p25.2	UniSTS
Cytogenetic Map	X	p22.33	UniSTS
Cytogenetic Map	Y	p11.32	UniSTS
Cytogenetic Map	10	p15.3-p15.2	UniSTS
Cytogenetic Map	13	q14.13	UniSTS
Cytogenetic Map	17	p13.3	UniSTS
Cytogenetic Map	3	p22.3	UniSTS
Cytogenetic Map	2	q13	UniSTS
Cytogenetic Map	1	q32.3-q41	UniSTS
Cytogenetic Map	1	p13.3	UniSTS
Cytogenetic Map	11	q13.5	UniSTS
Cytogenetic Map	9	q34.11	UniSTS
Cytogenetic Map	1	p36.32	UniSTS
Cytogenetic Map	19	q13.42	UniSTS
Cytogenetic Map	11	q13	UniSTS
Cytogenetic Map	1	q32.1	UniSTS
Cytogenetic Map	22	q13.2	UniSTS
Cytogenetic Map	19	p13.3	UniSTS
Cytogenetic Map	17	q12	UniSTS

D11S3114

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	9	q34.13	UniSTS
Cytogenetic Map	15	q13	UniSTS
Cytogenetic Map	3	p22-p21.3	UniSTS
Cytogenetic Map	1	q32.1	UniSTS
Cytogenetic Map	7	p14.1	UniSTS
Cytogenetic Map	2	q22.3	UniSTS
Cytogenetic Map	3	p24.3	UniSTS
Cytogenetic Map	17	q25.3	UniSTS
Cytogenetic Map	7	q31.1	UniSTS
Cytogenetic Map	7	q21.11	UniSTS
Cytogenetic Map	5	q31	UniSTS
Cytogenetic Map	22	q13.33	UniSTS
Cytogenetic Map	8	q22.3	UniSTS
Cytogenetic Map	2	p25.1	UniSTS
Cytogenetic Map	3	q22-q24	UniSTS
Cytogenetic Map	5	q23.3-q31.1	UniSTS
Cytogenetic Map	8	p21.3	UniSTS
Cytogenetic Map	14	q32.3	UniSTS
Cytogenetic Map	7	q11.23	UniSTS
Cytogenetic Map	7	q32	UniSTS
Cytogenetic Map	17	q11	UniSTS
Cytogenetic Map	1	q21-q23	UniSTS
Cytogenetic Map	12	q13.13	UniSTS
Cytogenetic Map	17	p12-p11.2	UniSTS
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	X	p22.2	UniSTS
Cytogenetic Map	19	p13.11	UniSTS
Cytogenetic Map	19	p13.2	UniSTS
Cytogenetic Map	16	q24.3	UniSTS
Cytogenetic Map	9	q34.3	UniSTS
Cytogenetic Map	19	q13.33	UniSTS
Cytogenetic Map	2	q32.3	UniSTS
Cytogenetic Map	1	q25.1	UniSTS
Cytogenetic Map	10	p15.3	UniSTS
Cytogenetic Map	12	q12	UniSTS
Cytogenetic Map	12	q24.31	UniSTS
Cytogenetic Map	15	q15	UniSTS
Cytogenetic Map	22	q11.23	UniSTS
Cytogenetic Map	17	q25	UniSTS
Cytogenetic Map	16	q22.1	UniSTS
Cytogenetic Map	19	p13.3	UniSTS
Cytogenetic Map	5	q23.3	UniSTS
Cytogenetic Map	15	q15.1	UniSTS
Cytogenetic Map	3	q27.2	UniSTS
Cytogenetic Map	20	q13.12	UniSTS
Cytogenetic Map	X	p11.23	UniSTS
Cytogenetic Map	16	q13	UniSTS
Cytogenetic Map	19	q13.3	UniSTS
Cytogenetic Map	1	q32	UniSTS
Cytogenetic Map	6	q25.3	UniSTS
Cytogenetic Map	1	p36.2	UniSTS
Cytogenetic Map	15	q11.2-q21.3	UniSTS
Cytogenetic Map	14	q24.3	UniSTS
Cytogenetic Map	19	p13	UniSTS
Cytogenetic Map	1	p35.1	UniSTS
Cytogenetic Map	17	q11.2	UniSTS
Cytogenetic Map	12	q13.2	UniSTS
Cytogenetic Map	22	q13.1	UniSTS
Cytogenetic Map	11	p15	UniSTS
Cytogenetic Map	8	q24.13	UniSTS
Cytogenetic Map	1	q41	UniSTS
Cytogenetic Map	19	q13.12	UniSTS
Cytogenetic Map	17	q12	UniSTS
Cytogenetic Map	12	p12.1	UniSTS
Cytogenetic Map	15	q25.2	UniSTS
Cytogenetic Map	2	p13.1	UniSTS
Cytogenetic Map	1	p36.13	UniSTS
Cytogenetic Map	2	q12.1	UniSTS
Cytogenetic Map	11	q23.3	UniSTS
Cytogenetic Map	X	p11.3	UniSTS
Cytogenetic Map	17	p13	UniSTS
Cytogenetic Map	20	q13.13	UniSTS
Cytogenetic Map	4	q12	UniSTS
Cytogenetic Map	16	q24	UniSTS
Cytogenetic Map	17	p13.1	UniSTS
Cytogenetic Map	10	q23.1	UniSTS
Cytogenetic Map	1	q44	UniSTS
Cytogenetic Map	3	p21.31	UniSTS
Cytogenetic Map	17	p13.2	UniSTS
Cytogenetic Map	9	q33.3	UniSTS
Cytogenetic Map	2	p11.2	UniSTS
Cytogenetic Map	22	q12.1	UniSTS
Cytogenetic Map	17	q22.2	UniSTS
Cytogenetic Map	1	p36.33	UniSTS
Cytogenetic Map	10	q11.1	UniSTS
Cytogenetic Map	19	q12	UniSTS
Cytogenetic Map	11	q14.2	UniSTS
Cytogenetic Map	1	q23.1	UniSTS
Cytogenetic Map	11	p15.4	UniSTS
Cytogenetic Map	18	q12.1-q21.1	UniSTS
Cytogenetic Map	2	q37	UniSTS
Cytogenetic Map	20	q11.21	UniSTS
Cytogenetic Map	6	p21.32	UniSTS
Cytogenetic Map	10	q26.3	UniSTS
Cytogenetic Map	7	q22.1	UniSTS
Cytogenetic Map	14	q12	UniSTS
Cytogenetic Map	8	p11.22	UniSTS
Cytogenetic Map	19	q13.32	UniSTS
Cytogenetic Map	17	q21.31	UniSTS
Cytogenetic Map	17	q21	UniSTS
Cytogenetic Map	2	q21.3	UniSTS
Cytogenetic Map	2	q21.1	UniSTS
Cytogenetic Map	6	q27	UniSTS
Cytogenetic Map	2	q33.1	UniSTS
Cytogenetic Map	9	q21.12	UniSTS
Cytogenetic Map	7	p22.2	UniSTS
Cytogenetic Map	20	p13	UniSTS
Cytogenetic Map	17	q25.1	UniSTS
Cytogenetic Map	10	q24.31	UniSTS
Cytogenetic Map	15	q22.31	UniSTS
Cytogenetic Map	11	q12.3	UniSTS
Cytogenetic Map	2	q31.1	UniSTS
Cytogenetic Map	1	p36.21	UniSTS
Cytogenetic Map	1	p31.1	UniSTS
Cytogenetic Map	1	p36.11	UniSTS
Cytogenetic Map	1	p32.3	UniSTS
Cytogenetic Map	3	q13.31	UniSTS
Cytogenetic Map	6	q13	UniSTS
Cytogenetic Map	1	q21	UniSTS
Cytogenetic Map	3	q21.3	UniSTS
Cytogenetic Map	19	q13.4	UniSTS
Cytogenetic Map	12	q23.2	UniSTS
Cytogenetic Map	1	q21.3	UniSTS
Cytogenetic Map	1	q22	UniSTS
Cytogenetic Map	1	p36	UniSTS
Cytogenetic Map	4	p14	UniSTS
Cytogenetic Map	19	p12	UniSTS
Cytogenetic Map	22	q11.21	UniSTS
Cytogenetic Map	7	q22	UniSTS
Cytogenetic Map	16	q22	UniSTS
Cytogenetic Map	2	q11.2	UniSTS
Cytogenetic Map	19	p13.1-p12	UniSTS
Cytogenetic Map	16	p13.3	UniSTS
Cytogenetic Map	2	p22.1	UniSTS
Cytogenetic Map	1	p34.3	UniSTS
Cytogenetic Map	5	q23.1	UniSTS
Cytogenetic Map	8	q24.3	UniSTS
Cytogenetic Map	1	q25	UniSTS
Cytogenetic Map	1	q21.2	UniSTS
Cytogenetic Map	12	q22	UniSTS
Cytogenetic Map	21	q22.3	UniSTS
Cytogenetic Map	21	q22.11	UniSTS
Cytogenetic Map	3	q23	UniSTS
Cytogenetic Map	6	p21.3	UniSTS
Cytogenetic Map	2	q12.3	UniSTS
Cytogenetic Map	12	p13.31	UniSTS
Cytogenetic Map	8	p11.2	UniSTS
Cytogenetic Map	7	q21.1	UniSTS
Cytogenetic Map	19	q13.43	UniSTS
Cytogenetic Map	2	q35	UniSTS
Cytogenetic Map	5	q35.3	UniSTS
Cytogenetic Map	5	p13	UniSTS
Cytogenetic Map	22	q11.2	UniSTS
Cytogenetic Map	5	p12	UniSTS
Cytogenetic Map	1	p34.2	UniSTS
Cytogenetic Map	12	q21.1	UniSTS
Cytogenetic Map	16	q12.1	UniSTS
Cytogenetic Map	2	q37.1	UniSTS
Cytogenetic Map	7	p14.3	UniSTS
Cytogenetic Map	X	q13.2	UniSTS
Cytogenetic Map	18	p11.21	UniSTS
Cytogenetic Map	17	p13.3	UniSTS
Cytogenetic Map	14	q24	UniSTS
Cytogenetic Map	15	q24.1	UniSTS
Cytogenetic Map	7	p22.3	UniSTS
Cytogenetic Map	22	q13.2	UniSTS
Cytogenetic Map	2	p21	UniSTS
Cytogenetic Map	22	q11.1	UniSTS
Cytogenetic Map	22	q13	UniSTS
Cytogenetic Map	11	q13.1-q13.2	UniSTS
Cytogenetic Map	7	p22	UniSTS
Cytogenetic Map	1	p32-p31	UniSTS
Cytogenetic Map	19	q13.1	UniSTS
Cytogenetic Map	11	q13	UniSTS
Cytogenetic Map	7	q21-q22	UniSTS
Cytogenetic Map	11	p15.5	UniSTS
Cytogenetic Map	12	p13.1	UniSTS
Cytogenetic Map	8	p22	UniSTS
Cytogenetic Map	3	q25.33	UniSTS
Cytogenetic Map	10	q23.31	UniSTS
Cytogenetic Map	1	p13.3	UniSTS
Cytogenetic Map	20	q13.3	UniSTS
Cytogenetic Map	17	q23.2	UniSTS
Cytogenetic Map	14	q24.1	UniSTS
Cytogenetic Map	1	p36.32	UniSTS
Cytogenetic Map	10	q24.32	UniSTS
Cytogenetic Map	2	q33.2	UniSTS
Cytogenetic Map	1	p35-p34.3	UniSTS
Cytogenetic Map	7	p11.2	UniSTS
Cytogenetic Map	5	q35.2	UniSTS
Cytogenetic Map	10	q22.3	UniSTS
Cytogenetic Map	2	p13.3	UniSTS
Cytogenetic Map	3	q12.3	UniSTS
Cytogenetic Map	12	q	UniSTS
Cytogenetic Map	12	p12.2-p11.2	UniSTS
Cytogenetic Map	2	p23.3	UniSTS
Cytogenetic Map	2	q14.3	UniSTS
Cytogenetic Map	7	p13	UniSTS
Cytogenetic Map	11	p15.3	UniSTS
Cytogenetic Map	1	p36.11-p34.2	UniSTS
Cytogenetic Map	4	q35.1	UniSTS
Cytogenetic Map	6	q22.31	UniSTS
Cytogenetic Map	11	q13.1	UniSTS
Cytogenetic Map	16	q22.2	UniSTS
Cytogenetic Map	11	q22.3	UniSTS
Cytogenetic Map	10	p14	UniSTS
Cytogenetic Map	8	q22.1	UniSTS
Cytogenetic Map	6	q21	UniSTS
Cytogenetic Map	4	p16.1	UniSTS
Cytogenetic Map	20	p11.23	UniSTS
Cytogenetic Map	3	q22.3	UniSTS
Cytogenetic Map	3	q27.3	UniSTS
Cytogenetic Map	22	q12.2	UniSTS
Cytogenetic Map	14	q32.11	UniSTS
Cytogenetic Map	15	q14	UniSTS
Cytogenetic Map	5	q31.3	UniSTS
Cytogenetic Map	11	q14	UniSTS
Cytogenetic Map	15	q21	UniSTS
Cytogenetic Map	3	q27.1	UniSTS
Cytogenetic Map	3	p14.3	UniSTS
Cytogenetic Map	12	p13.2	UniSTS
Cytogenetic Map	6	p21.2	UniSTS
Cytogenetic Map	10	q11.1-q24	UniSTS
Cytogenetic Map	1	p36.31	UniSTS
Cytogenetic Map	1	p31.3	UniSTS
Cytogenetic Map	X	p11.22	UniSTS
Cytogenetic Map	10	p15.1	UniSTS
Cytogenetic Map	X	q24	UniSTS
Cytogenetic Map	7	p22.1	UniSTS
Cytogenetic Map	14	q31.1	UniSTS
Cytogenetic Map	19	q13.2	UniSTS
Cytogenetic Map	X	q21.1	UniSTS
Cytogenetic Map	15	q22	UniSTS
Cytogenetic Map	6	p25	UniSTS
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	X	q12-q13	UniSTS
Cytogenetic Map	12	q13.3	UniSTS
Cytogenetic Map	9	q34.11	UniSTS
Cytogenetic Map	7	q31	UniSTS
Cytogenetic Map	7	q31.1-q31.3	UniSTS
Cytogenetic Map	11	q13.4	UniSTS
Cytogenetic Map	7	q34	UniSTS
Cytogenetic Map	X	q13.1-q21.1	UniSTS
Cytogenetic Map	20	pter-q12	UniSTS
Cytogenetic Map	14	q32.31	UniSTS
Cytogenetic Map	12	q13.11-q14.3	UniSTS
Cytogenetic Map	2	q32.1	UniSTS
Cytogenetic Map	15	q21-q22	UniSTS
Cytogenetic Map	19	q13	UniSTS
Cytogenetic Map	20	q11.22-q11.23	UniSTS
Cytogenetic Map	10	q23	UniSTS
Cytogenetic Map	17	p11.2	UniSTS
Cytogenetic Map	11	p11.2	UniSTS
Cytogenetic Map	4	q21.22	UniSTS
Cytogenetic Map	13	q14.2	UniSTS
Cytogenetic Map	1	q21.2-q21.3	UniSTS
Cytogenetic Map	9	p24.1	UniSTS
Cytogenetic Map	15	q15.3	UniSTS
Cytogenetic Map	3	q13.33	UniSTS
Cytogenetic Map	8	q11.2	UniSTS
Cytogenetic Map	X	q12	UniSTS
Cytogenetic Map	1	q41-q42.2	UniSTS
Cytogenetic Map	11	q22-q23	UniSTS
Cytogenetic Map	12	q23-q24.1	UniSTS
Cytogenetic Map	1	p36.3	UniSTS
Cytogenetic Map	1	p33	UniSTS
Cytogenetic Map	6	p12.3	UniSTS
Cytogenetic Map	1	q43	UniSTS
Cytogenetic Map	15	q26.3	UniSTS
Cytogenetic Map	15	q13.1	UniSTS
Cytogenetic Map	X	q13.1	UniSTS
Cytogenetic Map	10	q11.21	UniSTS
Cytogenetic Map	17	q23.3	UniSTS
Cytogenetic Map	3	p21	UniSTS
Cytogenetic Map	15	q11-q13	UniSTS
Cytogenetic Map	13	q12-q14	UniSTS
Cytogenetic Map	18	q21.1	UniSTS
Cytogenetic Map	9	p23	UniSTS
Cytogenetic Map	7	p12.3	UniSTS
Cytogenetic Map	3	p25.3	UniSTS
Cytogenetic Map	2	q37.2	UniSTS
Cytogenetic Map	2	p14	UniSTS
Cytogenetic Map	10	q11.22	UniSTS
Cytogenetic Map	1	p21.2	UniSTS
Cytogenetic Map	3	p22.1	UniSTS
Cytogenetic Map	19	q13.42	UniSTS
Cytogenetic Map	19	q13.31	UniSTS
Cytogenetic Map	14	q32.2	UniSTS
Cytogenetic Map	17	q21.2	UniSTS
Cytogenetic Map	13	q32.2	UniSTS
Cytogenetic Map	14	q23.1	UniSTS
Cytogenetic Map	5	q11.2	UniSTS
Cytogenetic Map	2	q24.1	UniSTS
Cytogenetic Map	7	q32.1	UniSTS
Cytogenetic Map	19	p13.1	UniSTS
Cytogenetic Map	5	q31.1	UniSTS
Cytogenetic Map	8	p12-p11	UniSTS
Cytogenetic Map	1	q31-q32	UniSTS
Cytogenetic Map	6	q24.1	UniSTS
Cytogenetic Map	10	q24	UniSTS
Cytogenetic Map	X	q28	UniSTS
Cytogenetic Map	15	q26.1	UniSTS
Cytogenetic Map	10	q26.11	UniSTS
Cytogenetic Map	8	p21.1	UniSTS
Cytogenetic Map	7	p15.3	UniSTS
Cytogenetic Map	7	p21.1	UniSTS
Cytogenetic Map	4	q21.1	UniSTS
Cytogenetic Map	15	q11.2	UniSTS
Cytogenetic Map	13	q32.3	UniSTS
Cytogenetic Map	X	q25	UniSTS
Cytogenetic Map	12	q24.33	UniSTS
Cytogenetic Map	14	q23.2	UniSTS
Cytogenetic Map	2	q24.2	UniSTS
Cytogenetic Map	16	p12.2	UniSTS
Cytogenetic Map	15	q21.2	UniSTS
Cytogenetic Map	3	p26.1-p25.1	UniSTS
Cytogenetic Map	3	q13.2	UniSTS
Cytogenetic Map	4	p15.2	UniSTS
Cytogenetic Map	17	q24-q25	UniSTS
Cytogenetic Map	5	q12.1	UniSTS
Cytogenetic Map	5	q15	UniSTS
Cytogenetic Map	17	q22	UniSTS
Cytogenetic Map	17	q21.1	UniSTS
Cytogenetic Map	8	q23.1	UniSTS
Cytogenetic Map	10	p12.31	UniSTS
Cytogenetic Map	2	q33.3	UniSTS
Cytogenetic Map	X	q21	UniSTS
Cytogenetic Map	6	p12	UniSTS
Cytogenetic Map	2	p15-p13	UniSTS
Cytogenetic Map	19	q	UniSTS
Cytogenetic Map	20	p11	UniSTS
Cytogenetic Map	22	q12.3-q13.1	UniSTS
Cytogenetic Map	1	q25.2	UniSTS
Cytogenetic Map	10	q21.3	UniSTS
Cytogenetic Map	3	p21.1-p14.3	UniSTS
Cytogenetic Map	6	p12.1	UniSTS
Cytogenetic Map	14	q23.3	UniSTS
Cytogenetic Map	4	p16.3	UniSTS
Cytogenetic Map	6	q16.1	UniSTS
Cytogenetic Map	5	p13.1	UniSTS
Cytogenetic Map	9	q21.11	UniSTS
Cytogenetic Map	8	q12	UniSTS
Cytogenetic Map	1	q24.2	UniSTS
Cytogenetic Map	2	q34	UniSTS
Cytogenetic Map	8	p11.23	UniSTS
Cytogenetic Map	14	q21.2	UniSTS
Cytogenetic Map	7	q35	UniSTS
Cytogenetic Map	5	p13.3	UniSTS
Cytogenetic Map	1	q42.3	UniSTS
Cytogenetic Map	1	q22-q23	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
Cytogenetic Map	4	q21	UniSTS
Cytogenetic Map	10	p13	UniSTS
Cytogenetic Map	5	q13	UniSTS
Cytogenetic Map	4	q13.3	UniSTS
Cytogenetic Map	9	q34.1	UniSTS
Cytogenetic Map	5	q13.2	UniSTS
Cytogenetic Map	17	p12	UniSTS
Cytogenetic Map	9	q22.1-q22.2	UniSTS
Cytogenetic Map	18	q12.1	UniSTS
Cytogenetic Map	13	q14.11	UniSTS
Cytogenetic Map	7	q21.2	UniSTS
Cytogenetic Map	9	p22.3	UniSTS
Cytogenetic Map	8	q21.11	UniSTS
Cytogenetic Map	6	p22.3	UniSTS
Cytogenetic Map	5	q32	UniSTS
Cytogenetic Map	4	p12	UniSTS
Cytogenetic Map	2	q13	UniSTS
Cytogenetic Map	21	q11.2	UniSTS
Cytogenetic Map	1	p34.1	UniSTS
Cytogenetic Map	19	q11	UniSTS
Cytogenetic Map	8	p21.2	UniSTS
Cytogenetic Map	15	q26.2	UniSTS
Cytogenetic Map	14	q22.1	UniSTS
Cytogenetic Map	11	p15.1	UniSTS
Cytogenetic Map	10	q25.3	UniSTS
Cytogenetic Map	20	q11.23	UniSTS
Cytogenetic Map	12	q13.11	UniSTS
Cytogenetic Map	11	q13.2	UniSTS
Cytogenetic Map	5	p13.2	UniSTS
Cytogenetic Map	16	q24.1	UniSTS
Cytogenetic Map	9	q32	UniSTS
Cytogenetic Map	2	q36.1	UniSTS
Cytogenetic Map	1	q42.13	UniSTS
Cytogenetic Map	1	q21.1	UniSTS
Cytogenetic Map	17	q21.32	UniSTS
Cytogenetic Map	16	q23.1	UniSTS
Cytogenetic Map	3	q25.1	UniSTS
Cytogenetic Map	1	p22.2	UniSTS
Cytogenetic Map	1	p32.2-p32.1	UniSTS
Cytogenetic Map	15	q24	UniSTS
Cytogenetic Map	X	p21.1	UniSTS
Cytogenetic Map	12	q14.3	UniSTS
Cytogenetic Map	7	q36	UniSTS
Cytogenetic Map	9	q34	UniSTS
Cytogenetic Map	11	q22	UniSTS
Cytogenetic Map	5	p15.3	UniSTS
Cytogenetic Map	7	q11.21	UniSTS
Cytogenetic Map	20	q13.3-qter	UniSTS
Cytogenetic Map	13	q13.1	UniSTS
Cytogenetic Map	1	p33-p32	UniSTS
Cytogenetic Map	21	q22.2	UniSTS
Cytogenetic Map	3	q13.13-q13.2	UniSTS
Cytogenetic Map	3	p21.3	UniSTS
Cytogenetic Map	12	p11.21	UniSTS
Cytogenetic Map	7	q	UniSTS
Cytogenetic Map	11	q13.5	UniSTS
Cytogenetic Map	4	q32	UniSTS
Cytogenetic Map	9	q22.33	UniSTS
Cytogenetic Map	5	q35.1	UniSTS
Cytogenetic Map	9	p13.3	UniSTS
Cytogenetic Map	13	q14.13	UniSTS
Cytogenetic Map	10	p12.1	UniSTS
Cytogenetic Map	20	q13.33	UniSTS
Cytogenetic Map	19	p13.13	UniSTS
Cytogenetic Map	4	q13.2	UniSTS
Cytogenetic Map	4	q31.23	UniSTS
Cytogenetic Map	7	q36.3	UniSTS
Cytogenetic Map	14	q24.2	UniSTS

ECD04345

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	19	q13.43	UniSTS
Cytogenetic Map	11	p14.1	UniSTS
Cytogenetic Map	20	q11.21	UniSTS
Cytogenetic Map	14	q21	UniSTS
Cytogenetic Map	14	q32.12	UniSTS
Cytogenetic Map	9	p13.2	UniSTS
Cytogenetic Map	12	q	UniSTS
Cytogenetic Map	19	q13.1	UniSTS
Cytogenetic Map	18	p11.3-p11.2	UniSTS
Cytogenetic Map	15	q23	UniSTS
Cytogenetic Map	2	q21.1	UniSTS
Cytogenetic Map	2	q12.3	UniSTS
Cytogenetic Map	16	q21	UniSTS
Cytogenetic Map	10	p15-p14	UniSTS
Cytogenetic Map	18	p11.21	UniSTS
Cytogenetic Map	19	p13.3	UniSTS

D1S1423

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	10	p12.1	UniSTS
Cytogenetic Map	10	p12.1-p11.2	UniSTS
Cytogenetic Map	9	q34.13	UniSTS
Cytogenetic Map	16	q22.1	UniSTS
Cytogenetic Map	21	q22.2	UniSTS
Cytogenetic Map	3	p24.2	UniSTS
Cytogenetic Map	9	q32	UniSTS
Cytogenetic Map	1	q24	UniSTS
Cytogenetic Map	1	q21	UniSTS
Cytogenetic Map	1	p36.33	UniSTS
Cytogenetic Map	7	p15.2	UniSTS
Cytogenetic Map	6	p21	UniSTS
Cytogenetic Map	5	q31	UniSTS
Cytogenetic Map	6	p22.3-p21.32	UniSTS
Cytogenetic Map	6	q22.33	UniSTS
Cytogenetic Map	3	q29	UniSTS
Cytogenetic Map	17	p11.2	UniSTS
Cytogenetic Map	19	q13.3	UniSTS
Cytogenetic Map	1	p36.13	UniSTS
Cytogenetic Map	5	q33.3	UniSTS
Cytogenetic Map	22	q11.22	UniSTS
Cytogenetic Map	11	q13.2-q13.3	UniSTS
Cytogenetic Map	3	q22-q24	UniSTS
Cytogenetic Map	8	p21.3	UniSTS
Cytogenetic Map	7	q32	UniSTS
Cytogenetic Map	1	p32.3	UniSTS
Cytogenetic Map	19	p13.12	UniSTS
Cytogenetic Map	4	q21.1	UniSTS
Cytogenetic Map	12	q13.13	UniSTS
Cytogenetic Map	7	q11.2	UniSTS
Cytogenetic Map	1	p22.1	UniSTS
Cytogenetic Map	2	q32	UniSTS
Cytogenetic Map	X	q13.1	UniSTS
Cytogenetic Map	9	q12	UniSTS
Cytogenetic Map	3	q26.2	UniSTS
Cytogenetic Map	22	q11.21	UniSTS
Cytogenetic Map	10	q23-q24	UniSTS
Cytogenetic Map	17	q12	UniSTS
Cytogenetic Map	1	p36.21	UniSTS
Cytogenetic Map	19	p13.2	UniSTS
Cytogenetic Map	16	q24.3	UniSTS
Cytogenetic Map	9	q34.3	UniSTS
Cytogenetic Map	4	p14	UniSTS
Cytogenetic Map	2	p12	UniSTS
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	3	q23	UniSTS
Cytogenetic Map	18	q22.1	UniSTS
Cytogenetic Map	13	q12	UniSTS
Cytogenetic Map	10	p14-p13	UniSTS
Cytogenetic Map	12	p13.31	UniSTS
Cytogenetic Map	14	q24.3	UniSTS
Cytogenetic Map	22	q13.2	UniSTS
Cytogenetic Map	19	q13.11	UniSTS
Cytogenetic Map	11	q23-q24	UniSTS
Cytogenetic Map	11	q13.1	UniSTS
Cytogenetic Map	12	q24.31	UniSTS
Cytogenetic Map	17	q25	UniSTS
Cytogenetic Map	16	q24.1	UniSTS
Cytogenetic Map	5	q23.3	UniSTS
Cytogenetic Map	19	q13.43	UniSTS
Cytogenetic Map	17	q11.2	UniSTS
Cytogenetic Map	20	q13.12	UniSTS
Cytogenetic Map	X	p11.23	UniSTS
Cytogenetic Map	19	q13.42	UniSTS
Cytogenetic Map	16	q13	UniSTS
Cytogenetic Map	11	q25	UniSTS
Cytogenetic Map	22	cen-q12.3	UniSTS
Cytogenetic Map	10	p13	UniSTS
Cytogenetic Map	2	p11.2	UniSTS
Cytogenetic Map	15	q11.2-q21.3	UniSTS
Cytogenetic Map	1	p21.2	UniSTS
Cytogenetic Map	19	p13	UniSTS
Cytogenetic Map	7	q21.13	UniSTS
Cytogenetic Map	7	q31.1	UniSTS
Cytogenetic Map	17	p13.3	UniSTS
Cytogenetic Map	1	p35.1	UniSTS
Cytogenetic Map	16	q24	UniSTS
Cytogenetic Map	3	q25	UniSTS
Cytogenetic Map	2	q24.2	UniSTS
Cytogenetic Map	1	p31.3	UniSTS
Cytogenetic Map	14	q31.1	UniSTS
Cytogenetic Map	22	q13.1	UniSTS
Cytogenetic Map	20	q13.31	UniSTS
Cytogenetic Map	19	p13.3	UniSTS
Cytogenetic Map	6	p12.1	UniSTS
Cytogenetic Map	6	q25.3	UniSTS
Cytogenetic Map	1	q32.1	UniSTS
Cytogenetic Map	11	q24.2	UniSTS
Cytogenetic Map	10	p15.1	UniSTS
Cytogenetic Map	2	p13.1	UniSTS
Cytogenetic Map	19	q13.12	UniSTS
Cytogenetic Map	12	p13.32	UniSTS
Cytogenetic Map	4	q35.1	UniSTS
Cytogenetic Map	2	p13.3	UniSTS
Cytogenetic Map	1	p22	UniSTS
Cytogenetic Map	2	q14	UniSTS
Cytogenetic Map	4	q12	UniSTS
Cytogenetic Map	16	p13.3	UniSTS
Cytogenetic Map	14	q32.33	UniSTS
Cytogenetic Map	1	p36.1	UniSTS
Cytogenetic Map	8	p11.21	UniSTS
Cytogenetic Map	X	q26.3	UniSTS
Cytogenetic Map	8	q24.11	UniSTS
Cytogenetic Map	9	q22.31	UniSTS
Cytogenetic Map	7	q11.23	UniSTS
Cytogenetic Map	2	p15	UniSTS
Cytogenetic Map	5	q31.1	UniSTS
Cytogenetic Map	8	q24.13	UniSTS
Cytogenetic Map	17	p13	UniSTS
Cytogenetic Map	8	p11.22	UniSTS
Cytogenetic Map	4	q28	UniSTS
Cytogenetic Map	15	q24.1	UniSTS
Cytogenetic Map	1	q41-q42	UniSTS
Cytogenetic Map	10	q22	UniSTS
Cytogenetic Map	5	q35.3	UniSTS
Cytogenetic Map	20	q11.21	UniSTS
Cytogenetic Map	8	q24.3	UniSTS
Cytogenetic Map	12	p13.1-p12.3	UniSTS
Cytogenetic Map	6	p21.33	UniSTS
Cytogenetic Map	22	q13.33	UniSTS
Cytogenetic Map	19	p12	UniSTS
Cytogenetic Map	1	p13.1	UniSTS
Cytogenetic Map	7	q22.1	UniSTS
Cytogenetic Map	14	q12	UniSTS
Cytogenetic Map	19	q13.32	UniSTS
Cytogenetic Map	11	q13.2	UniSTS
Cytogenetic Map	15	q22.31	UniSTS
Cytogenetic Map	5	q12.3	UniSTS
Cytogenetic Map	7	q33	UniSTS
Cytogenetic Map	17	q21.2	UniSTS
Cytogenetic Map	4	q23	UniSTS
Cytogenetic Map	12	q13.12	UniSTS
Cytogenetic Map	18	p11.21	UniSTS
Cytogenetic Map	10	q26.11	UniSTS
Cytogenetic Map	14	q32.12	UniSTS
Cytogenetic Map	11	q24.1	UniSTS
Cytogenetic Map	18	q23	UniSTS
Cytogenetic Map	2	q31.1	UniSTS
Cytogenetic Map	18	p11.31	UniSTS
Cytogenetic Map	2	q24.3	UniSTS
Cytogenetic Map	11	q23	UniSTS
Cytogenetic Map	17	q21.31	UniSTS
Cytogenetic Map	13	q34	UniSTS
Cytogenetic Map	1	p34.3	UniSTS
Cytogenetic Map	10	p14	UniSTS
Cytogenetic Map	15	q22.2	UniSTS
Cytogenetic Map	17	q25.1	UniSTS
Cytogenetic Map	5	q32	UniSTS
Cytogenetic Map	4	p16.3	UniSTS
Cytogenetic Map	12	q23.2	UniSTS
Cytogenetic Map	11	q12.3	UniSTS
Cytogenetic Map	16	q12.2	UniSTS
Cytogenetic Map	9	q22.2	UniSTS
Cytogenetic Map	1	q21.3	UniSTS
Cytogenetic Map	1	p35.3	UniSTS
Cytogenetic Map	19	q13.2	UniSTS
Cytogenetic Map	11	p15.5	UniSTS
Cytogenetic Map	7	q22	UniSTS
Cytogenetic Map	18	p11.31-p11.21	UniSTS
Cytogenetic Map	3	p25.3	UniSTS
Cytogenetic Map	3	q13	UniSTS
Cytogenetic Map	21	q22.3	UniSTS
Cytogenetic Map	1	q43	UniSTS
Cytogenetic Map	19	p13.11	UniSTS
Cytogenetic Map	19	q13.41	UniSTS
Cytogenetic Map	7	p21.2	UniSTS
Cytogenetic Map	12	q21.1	UniSTS
Cytogenetic Map	15	q15.1	UniSTS
Cytogenetic Map	15	q13.1	UniSTS
Cytogenetic Map	1	q42.1	UniSTS
Cytogenetic Map	5	q31.2	UniSTS
Cytogenetic Map	1	q21.2	UniSTS
Cytogenetic Map	17	p13.1	UniSTS
Cytogenetic Map	1	p34-p33	UniSTS
Cytogenetic Map	3	q22.1	UniSTS
Cytogenetic Map	7	p14	UniSTS
Cytogenetic Map	15	q21	UniSTS
Cytogenetic Map	12	q24.2	UniSTS
Cytogenetic Map	20	q13	UniSTS
Cytogenetic Map	19	q13.3-q13.4	UniSTS
Cytogenetic Map	17	q21.32	UniSTS
Cytogenetic Map	15	q11.2	UniSTS
Cytogenetic Map	8	p23-p22	UniSTS
Cytogenetic Map	1	p12	UniSTS
Cytogenetic Map	3	q13.33	UniSTS
Cytogenetic Map	10	p12.33	UniSTS
Cytogenetic Map	5	q13.2	UniSTS
Cytogenetic Map	3	q26	UniSTS
Cytogenetic Map	9	p21.2	UniSTS
Cytogenetic Map	2	p16.1	UniSTS
Cytogenetic Map	5	q21.3	UniSTS
Cytogenetic Map	1	p36.22	UniSTS
Cytogenetic Map	1	p34.2	UniSTS
Cytogenetic Map	3	q26.31	UniSTS
Cytogenetic Map	X	p22.33	UniSTS
Cytogenetic Map	Y	p11.3	UniSTS
Cytogenetic Map	17	q24.1	UniSTS
Cytogenetic Map	9	q21.11	UniSTS
Cytogenetic Map	6	q22.31	UniSTS
Cytogenetic Map	9	q21.13	UniSTS
Cytogenetic Map	10	q11.22	UniSTS
Cytogenetic Map	22	q13.31	UniSTS
Cytogenetic Map	17	p12	UniSTS
Cytogenetic Map	17	q21.33	UniSTS
Cytogenetic Map	5	p13.3	UniSTS
Cytogenetic Map	10	q21.3	UniSTS
Cytogenetic Map	10	q22.1	UniSTS
Cytogenetic Map	1	p34	UniSTS
Cytogenetic Map	X	p22	UniSTS
Cytogenetic Map	20	p12.3-p11.21	UniSTS
Cytogenetic Map	2	q37.1	UniSTS
Cytogenetic Map	6	p25	UniSTS
Cytogenetic Map	X	q27.2	UniSTS
Cytogenetic Map	4	q31.1	UniSTS
Cytogenetic Map	4	q31	UniSTS
Cytogenetic Map	22	q13.1-q13.2	UniSTS
Cytogenetic Map	X	q28	UniSTS
Cytogenetic Map	1	p36.11	UniSTS
Cytogenetic Map	12	q13.3	UniSTS
Cytogenetic Map	3	q26.33	UniSTS
Cytogenetic Map	19	q13.4	UniSTS
Cytogenetic Map	14	q32	UniSTS
Cytogenetic Map	10	q24.3	UniSTS
Cytogenetic Map	16	q21	UniSTS
Cytogenetic Map	2	p13	UniSTS
Cytogenetic Map	19	q13.1	UniSTS
Cytogenetic Map	7	q21-q22	UniSTS
Cytogenetic Map	2	q11.2	UniSTS
Cytogenetic Map	17	q25.3	UniSTS
Cytogenetic Map	4	q22.1	UniSTS
Cytogenetic Map	11	q22.1	UniSTS
Cytogenetic Map	12	q14.2	UniSTS
Cytogenetic Map	20	p13	UniSTS
Cytogenetic Map	7	q36.3	UniSTS
Cytogenetic Map	20	q11.21-q11.23	UniSTS
Cytogenetic Map	2	q33.2	UniSTS
Cytogenetic Map	12	q22	UniSTS
Cytogenetic Map	20	q13.13	UniSTS
Cytogenetic Map	21	p11.1	UniSTS
Cytogenetic Map	1	p35-p34.3	UniSTS
Cytogenetic Map	7	p11.2	UniSTS
Cytogenetic Map	13	q14	UniSTS
Cytogenetic Map	7	q36.1	UniSTS
Cytogenetic Map	12	q24.31-q24.32	UniSTS
Cytogenetic Map	17	q21.1	UniSTS
Cytogenetic Map	3	q12.3	UniSTS
Cytogenetic Map	12	q	UniSTS
Cytogenetic Map	11	q13.5	UniSTS
Cytogenetic Map	2	p14	UniSTS
Cytogenetic Map	2	q14.3	UniSTS
Cytogenetic Map	7	q34	UniSTS
Cytogenetic Map	14	q32.1	UniSTS
Cytogenetic Map	21	q22.11	UniSTS
Cytogenetic Map	3	p14.1	UniSTS
Cytogenetic Map	16	q23.2	UniSTS
Cytogenetic Map	7	q32.1	UniSTS
Cytogenetic Map	17	q22	UniSTS
Cytogenetic Map	4	q31.23	UniSTS
Cytogenetic Map	11	p15.3	UniSTS
Cytogenetic Map	3	q27.1	UniSTS
Cytogenetic Map	2	p22.3	UniSTS
Cytogenetic Map	22	q13	UniSTS
Cytogenetic Map	1	q32	UniSTS
Cytogenetic Map	11	q14	UniSTS
Cytogenetic Map	X	q13.2	UniSTS
Cytogenetic Map	16	p13.12	UniSTS
Cytogenetic Map	X	q22.3	UniSTS
Cytogenetic Map	9	p12	UniSTS
Cytogenetic Map	4	p16.1	UniSTS
Cytogenetic Map	11	q23.1	UniSTS
Cytogenetic Map	3	q27.3	UniSTS
Cytogenetic Map	16	q23.1	UniSTS
Cytogenetic Map	15	q15.2	UniSTS
Cytogenetic Map	2	p21	UniSTS
Cytogenetic Map	13	q33.3	UniSTS
Cytogenetic Map	15	q22-q24	UniSTS
Cytogenetic Map	14	q32.11	UniSTS
Cytogenetic Map	7	p14.3	UniSTS
Cytogenetic Map	14	q21.2	UniSTS
Cytogenetic Map	15	q25.2	UniSTS
Cytogenetic Map	15	q23	UniSTS
Cytogenetic Map	2	p23.3	UniSTS
Cytogenetic Map	4	p15.31	UniSTS
Cytogenetic Map	1	q22	UniSTS
Cytogenetic Map	20	q13.1	UniSTS
Cytogenetic Map	15	q21.3	UniSTS
Cytogenetic Map	10	q23.33	UniSTS
Cytogenetic Map	4	q26	UniSTS
Cytogenetic Map	X	q24	UniSTS
Cytogenetic Map	10	q23.1	UniSTS
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	15	q22.1-q22.31	UniSTS
Cytogenetic Map	1	q31-q41	UniSTS
Cytogenetic Map	6	q23.3	UniSTS
Cytogenetic Map	7	q21.2	UniSTS
Cytogenetic Map	14	q23	UniSTS
Cytogenetic Map	12	q11-q12	UniSTS
Cytogenetic Map	17	q23.3	UniSTS
Cytogenetic Map	4	q24	UniSTS
Cytogenetic Map	1	p32	UniSTS
Cytogenetic Map	3	p21.1-p14.2	UniSTS
Cytogenetic Map	12	q22-q23.1	UniSTS
Cytogenetic Map	6	p22.1	UniSTS
Cytogenetic Map	6	q24.2	UniSTS
Cytogenetic Map	9	p13.3	UniSTS
Cytogenetic Map	6	p24.1	UniSTS
Cytogenetic Map	19	q13	UniSTS
Cytogenetic Map	20	q11.22-q11.23	UniSTS
Cytogenetic Map	3	p22.3	UniSTS
Cytogenetic Map	12	q12	UniSTS
Cytogenetic Map	X	q13-q21	UniSTS
Cytogenetic Map	9	q34.11	UniSTS
Cytogenetic Map	16	p13.13	UniSTS
Cytogenetic Map	10	pter-q25.3	UniSTS
Cytogenetic Map	9	p24.1	UniSTS
Cytogenetic Map	12	p13.2	UniSTS
Cytogenetic Map	12	q24	UniSTS
Cytogenetic Map	3	q28-q29	UniSTS
Cytogenetic Map	10	q26	UniSTS
Cytogenetic Map	6	p22.2	UniSTS
Cytogenetic Map	2	q13	UniSTS
Cytogenetic Map	12	q24.2-q24.31	UniSTS
Cytogenetic Map	22	q12.2	UniSTS
Cytogenetic Map	1	q32.2-q41	UniSTS
Cytogenetic Map	11	q22-q23	UniSTS
Cytogenetic Map	12	p13.3	UniSTS
Cytogenetic Map	1	p34.1	UniSTS
Cytogenetic Map	22	q11	UniSTS
Cytogenetic Map	2	q21.1	UniSTS
Cytogenetic Map	16	p13.11	UniSTS
Cytogenetic Map	1	q25.1	UniSTS
Cytogenetic Map	1	p36.3	UniSTS
Cytogenetic Map	9	p21	UniSTS
Cytogenetic Map	6	p21.3	UniSTS
Cytogenetic Map	1	q41	UniSTS
Cytogenetic Map	11	q13.1-q13.3	UniSTS
Cytogenetic Map	16	p13	UniSTS
Cytogenetic Map	15	q26	UniSTS
Cytogenetic Map	18	q21	UniSTS
Cytogenetic Map	4	p15.1-p14	UniSTS
Cytogenetic Map	8	q11.2	UniSTS
Cytogenetic Map	16	q22	UniSTS
Cytogenetic Map	15	q11-q13	UniSTS
Cytogenetic Map	7	p12.3	UniSTS
Cytogenetic Map	7	p13	UniSTS
Cytogenetic Map	15	q26.1	UniSTS
Cytogenetic Map	14	q22.1	UniSTS
Cytogenetic Map	2	q12.3	UniSTS
Cytogenetic Map	X	p22.12	UniSTS
Cytogenetic Map	20	q11.23	UniSTS
Cytogenetic Map	1	q21.1	UniSTS
Cytogenetic Map	1	p36.31	UniSTS
Cytogenetic Map	16	q11.2	UniSTS
Cytogenetic Map	14	q32.2	UniSTS
Cytogenetic Map	11	p15.4	UniSTS
Cytogenetic Map	22	q11.1	UniSTS
Cytogenetic Map	5	q33.2	UniSTS
Cytogenetic Map	14	q23.1	UniSTS
Cytogenetic Map	7	q32.3	UniSTS
Cytogenetic Map	20	q13.3	UniSTS
Cytogenetic Map	10	q26.13	UniSTS
Cytogenetic Map	1	p31.1	UniSTS
Cytogenetic Map	11	q13.4	UniSTS
Cytogenetic Map	11	q23.3	UniSTS
Cytogenetic Map	15	q25.1	UniSTS
Cytogenetic Map	9	p13	UniSTS
Cytogenetic Map	2	p24.2	UniSTS
Cytogenetic Map	9	q33.3	UniSTS
Cytogenetic Map	19	q13.31	UniSTS
Cytogenetic Map	11	q12.2	UniSTS
Cytogenetic Map	7	p15.3	UniSTS
Cytogenetic Map	6	p25.2	UniSTS
Cytogenetic Map	6	q25.1	UniSTS
Cytogenetic Map	3	p21.31	UniSTS
Cytogenetic Map	17	q23.2	UniSTS
Cytogenetic Map	X	q25	UniSTS
Cytogenetic Map	2	p25.1	UniSTS
Cytogenetic Map	1	q25.3	UniSTS
Cytogenetic Map	6	p24-p22.3	UniSTS
Cytogenetic Map	6	q21	UniSTS
Cytogenetic Map	16	p12.2	UniSTS
Cytogenetic Map	3	q21-q24	UniSTS
Cytogenetic Map	4	q13	UniSTS
Cytogenetic Map	11	p13	UniSTS
Cytogenetic Map	9	q34	UniSTS
Cytogenetic Map	8	q13.1	UniSTS
Cytogenetic Map	5	q21.2	UniSTS
Cytogenetic Map	4	q34.3	UniSTS
Cytogenetic Map	3	p22.1	UniSTS
Cytogenetic Map	2	q37.3	UniSTS
Cytogenetic Map	8	p23.1	UniSTS
Cytogenetic Map	1	p13.3	UniSTS
Cytogenetic Map	15	q14	UniSTS
Cytogenetic Map	13	q13.3	UniSTS
Cytogenetic Map	12	q13.2	UniSTS
Cytogenetic Map	1	q31	UniSTS
Cytogenetic Map	7	q11.21	UniSTS
Cytogenetic Map	10	q26.3	UniSTS
Cytogenetic Map	15	q15	UniSTS
Cytogenetic Map	X	p11.4	UniSTS
Cytogenetic Map	8	q24.12	UniSTS
Cytogenetic Map	15	q22	UniSTS
Cytogenetic Map	1	q25.2	UniSTS
Cytogenetic Map	13	q11-q12	UniSTS
Cytogenetic Map	10	q24.2	UniSTS
Cytogenetic Map	15	q21.1	UniSTS
Cytogenetic Map	15	q13.2	UniSTS
Cytogenetic Map	6	q25.2	UniSTS
Cytogenetic Map	14	q11.2	UniSTS
Cytogenetic Map	2	q33.1	UniSTS
Cytogenetic Map	6	q14.1	UniSTS
Cytogenetic Map	3	q23-q24	UniSTS
Cytogenetic Map	2	p25.1-p24.1	UniSTS
Cytogenetic Map	12	q14.3	UniSTS
Cytogenetic Map	6	q16.1	UniSTS
Cytogenetic Map	5	p13.1	UniSTS
Cytogenetic Map	5	q13	UniSTS
Cytogenetic Map	20	pter-p12	UniSTS
Cytogenetic Map	X	p22.11	UniSTS
Cytogenetic Map	16	p13.2	UniSTS
Cytogenetic Map	16	q22.3	UniSTS
Cytogenetic Map	7	q31.3	UniSTS
Cytogenetic Map	21	q22.13	UniSTS
Cytogenetic Map	1	p21	UniSTS
Cytogenetic Map	8	p11	UniSTS
Cytogenetic Map	7	p14.2	UniSTS
Cytogenetic Map	8	p11.23	UniSTS
Cytogenetic Map	18	p11.22	UniSTS
Cytogenetic Map	18	q21.33	UniSTS
Cytogenetic Map	9	p24.3	UniSTS
Cytogenetic Map	11	q22.3	UniSTS
Cytogenetic Map	14	q22.2	UniSTS
Cytogenetic Map	20	p11.22-p11.1	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
Cytogenetic Map	14	q22.3	UniSTS
Cytogenetic Map	12	q15	UniSTS
Cytogenetic Map	7	q31	UniSTS
Cytogenetic Map	2	q12.2	UniSTS
Cytogenetic Map	8	p12	UniSTS
Cytogenetic Map	7	p22.1	UniSTS
Cytogenetic Map	6	p12.3	UniSTS
Cytogenetic Map	11	q12-q13	UniSTS
Cytogenetic Map	18	q21.1	UniSTS
Cytogenetic Map	10	p11.21	UniSTS
Cytogenetic Map	6	p22-p21	UniSTS
Cytogenetic Map	17	q21.1-q21.3	UniSTS
Cytogenetic Map	12	q24.33	UniSTS
Cytogenetic Map	4	p15.32	UniSTS
Cytogenetic Map	1	q42.13	UniSTS
Cytogenetic Map	19	q12	UniSTS
Cytogenetic Map	3	p14.3	UniSTS
Cytogenetic Map	12	p13.2-p12.3	UniSTS
Cytogenetic Map	9	q22.32	UniSTS
Cytogenetic Map	1	p36.3-p36.2	UniSTS
Cytogenetic Map	5	q22.2	UniSTS
Cytogenetic Map	4	p15.2	UniSTS
Cytogenetic Map	4	p15.3	UniSTS
Cytogenetic Map	4	q28.1	UniSTS
Cytogenetic Map	12	q13.1-q13.2	UniSTS
Cytogenetic Map	19	q13.33	UniSTS
Cytogenetic Map	1	p31	UniSTS
Cytogenetic Map	17	p13.2	UniSTS
Cytogenetic Map	15	q15.3	UniSTS
Cytogenetic Map	13	q14.11	UniSTS
Cytogenetic Map	9	p22.3	UniSTS
Cytogenetic Map	8	q22.2	UniSTS
Cytogenetic Map	8	q21.11	UniSTS
Cytogenetic Map	22	q12.1	UniSTS
Cytogenetic Map	3	q13.2	UniSTS
Cytogenetic Map	2	q35	UniSTS
Cytogenetic Map	2	q33.3	UniSTS
Cytogenetic Map	8	p22	UniSTS
Cytogenetic Map	10	q22.2	UniSTS
Cytogenetic Map	20	p12.1	UniSTS
Cytogenetic Map	6	q13	UniSTS
Cytogenetic Map	6	q22.32	UniSTS
Cytogenetic Map	5	q34	UniSTS
Cytogenetic Map	5	p15.2	UniSTS
Cytogenetic Map	5	q11.2	UniSTS
Cytogenetic Map	2	q36.1	UniSTS
Cytogenetic Map	18	q11.2	UniSTS
Cytogenetic Map	18	q12.2	UniSTS
Cytogenetic Map	14	q21.3	UniSTS
Cytogenetic Map	13	q33.1	UniSTS
Cytogenetic Map	12	p11.21	UniSTS
Cytogenetic Map	12	q23.1	UniSTS
Cytogenetic Map	16	p12.1	UniSTS
Cytogenetic Map	2	q33	UniSTS
Cytogenetic Map	5	q12.1	UniSTS
Cytogenetic Map	12	q24.13	UniSTS
Cytogenetic Map	13	q14.2	UniSTS
Cytogenetic Map	7	q36	UniSTS
Cytogenetic Map	10	q22.3-q23.2	UniSTS
Cytogenetic Map	7	p15	UniSTS
Cytogenetic Map	14	q32.31	UniSTS
Cytogenetic Map	11	q21	UniSTS
Cytogenetic Map	4	q21.3	UniSTS
Cytogenetic Map	7	p13-p12	UniSTS
Cytogenetic Map	8	p21.2	UniSTS
Cytogenetic Map	4	q22	UniSTS
Cytogenetic Map	11	q13	UniSTS
Cytogenetic Map	3	q12.1	UniSTS
Cytogenetic Map	7	q21.1-q22	UniSTS
Cytogenetic Map	17	q21	UniSTS
Cytogenetic Map	3	q13.13-q13.2	UniSTS
Cytogenetic Map	3	p21.3	UniSTS
Cytogenetic Map	13	q32.2	UniSTS
Cytogenetic Map	3	q26.32	UniSTS
Cytogenetic Map	15	q	UniSTS
Cytogenetic Map	2	p13.2	UniSTS
Cytogenetic Map	3	p12.3	UniSTS
Cytogenetic Map	10	q11.23	UniSTS
Cytogenetic Map	3	q11.2	UniSTS
Cytogenetic Map	12	q13.11	UniSTS
Cytogenetic Map	13	q14.13	UniSTS
Cytogenetic Map	10	q23	UniSTS
Cytogenetic Map	11	p11.2	UniSTS
Cytogenetic Map	6	q16.2	UniSTS
Cytogenetic Map	3	q21.1	UniSTS
Cytogenetic Map	10	q11.21	UniSTS
Cytogenetic Map	1	p13.2	UniSTS
Cytogenetic Map	6	p24.2	UniSTS
Cytogenetic Map	20	q13.33	UniSTS

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1


RefSeq Transcripts	NG_051619	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_030789	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_178580	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_178581	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_178582	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF172086	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF483215	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF515663	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ345029	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ420895	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK074686	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK075283	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314410	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL110115	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL121751	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY169310	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY169311	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY169312	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC008938	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC008959	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC062595	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI192962	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI552780	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ707066	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ890506	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU155406	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068258	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CQ783582	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS255962	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA087240	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ168450	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HI968237	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY026569	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF456879	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU178790	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU178791	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000335574 ⟹ ENSP00000335294

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,514,410 - 31,569,567 (+)	Ensembl

Ensembl Acc Id:

ENST00000340852 ⟹ ENSP00000343032

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,514,428 - 31,569,567 (+)	Ensembl

Ensembl Acc Id:

ENST00000344042 ⟹ ENSP00000341347

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,514,521 - 31,561,730 (+)	Ensembl

Ensembl Acc Id:

ENST00000398174 ⟹ ENSP00000381237

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,514,442 - 31,569,543 (+)	Ensembl

Ensembl Acc Id:

ENST00000460225

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,514,621 - 31,554,828 (+)	Ensembl

Ensembl Acc Id:

ENST00000460389

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,548,639 - 31,569,308 (+)	Ensembl

Ensembl Acc Id:

ENST00000464173

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,549,062 - 31,550,471 (+)	Ensembl

Ensembl Acc Id:

ENST00000464508

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,547,406 - 31,549,033 (+)	Ensembl

Ensembl Acc Id:

ENST00000464661

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,547,465 - 31,554,825 (+)	Ensembl

Ensembl Acc Id:

ENST00000466766 ⟹ ENSP00000498170

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,514,455 - 31,569,444 (+)	Ensembl

Ensembl Acc Id:

ENST00000468559

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,554,747 - 31,569,567 (+)	Ensembl

Ensembl Acc Id:

ENST00000469097

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,545,028 - 31,569,418 (+)	Ensembl

Ensembl Acc Id:

ENST00000469126

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,538,183 - 31,568,211 (+)	Ensembl

Ensembl Acc Id:

ENST00000472128

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,549,091 - 31,567,986 (+)	Ensembl

Ensembl Acc Id:

ENST00000474466

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,554,588 - 31,566,267 (+)	Ensembl

Ensembl Acc Id:

ENST00000479096

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,547,448 - 31,549,029 (+)	Ensembl

Ensembl Acc Id:

ENST00000483310

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,549,027 - 31,562,671 (+)	Ensembl

Ensembl Acc Id:

ENST00000487281

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,566,154 - 31,569,567 (+)	Ensembl

Ensembl Acc Id:

ENST00000487964

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,547,382 - 31,566,275 (+)	Ensembl

Ensembl Acc Id:

ENST00000492709

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,538,195 - 31,569,567 (+)	Ensembl

Ensembl Acc Id:

ENST00000493364

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,566,057 - 31,569,252 (+)	Ensembl

Ensembl Acc Id:

ENST00000494153

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,548,781 - 31,569,174 (+)	Ensembl

Ensembl Acc Id:

ENST00000496438

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,514,502 - 31,549,217 (+)	Ensembl

Ensembl Acc Id:

ENST00000498035 ⟹ ENSP00000479020

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,514,457 - 31,541,733 (+)	Ensembl

Ensembl Acc Id:

ENST00000619859 ⟹ ENSP00000479443

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,559,616 - 31,577,923 (+)	Ensembl

Ensembl Acc Id:

ENST00000649374 ⟹ ENSP00000498050

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,514,552 - 31,569,215 (+)	Ensembl

Ensembl Acc Id:

ENST00000649583

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,547,446 - 31,569,541 (+)	Ensembl

Ensembl Acc Id:

ENST00000649820 ⟹ ENSP00000497774

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,514,442 - 31,569,326 (+)	Ensembl

Ensembl Acc Id:

ENST00000650367 ⟹ ENSP00000497632

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,514,498 - 31,569,407 (+)	Ensembl

Ensembl Acc Id:

ENST00000674240 ⟹ ENSP00000501423

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	31,514,428 - 31,569,567 (+)	Ensembl

RefSeq Acc Id:

NM_030789 ⟹ NP_110416

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	31,514,442 - 31,569,543 (+)	NCBI
GRCh37	20	30,102,213 - 30,158,178 (+)	NCBI
Build 36	20	29,565,902 - 29,621,031 (+)	NCBI Archive
HuRef	20	26,890,412 - 26,945,730 (+)	NCBI
CHM1_1	20	30,006,122 - 30,061,281 (+)	NCBI
T2T-CHM13v2.0	20	33,238,668 - 33,293,768 (+)	NCBI

Sequence:

show sequence

ACTTCCTGTTGCCTTAGGGGAACGTGGCTTTCCCTGCAGAGCCGGTGTCTCCGCCTGCGTCCCTGCTGCAGCAACCGGAGCTGGAGTCGGATCCCGAACGCACCCTCGCCATGGACTCGGCCCTCAGC
GATCCGCATAACGGCAGTGCCGAGGCAGGCGGCCCCACCAACAGCACTACGCGGCCGCCTTCCACGCCCGAGGGCATCGCGCTGGCCTACGGCAGCCTCCTGCTCATGGCGCTGCTGCCCATCTTCTT
CGGCGCCCTGCGCTCCGTACGCTGCGCCCGCGGCAAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCT
TTTTCAAAATATTCTCCCAGGAGTACATCAACCTCCTGCTGTCCATGTATTTCTTCGTGCTGGGAATCCTGGCCCTGTCCCACACCATCAGCCCCTTCATGAATAAGTTTTTTCCAGCCAGCTTTCCA
AATCGACAGTACCAGCTGCTCTTCACACAGGGTTCTGGGGAAAACAAGGAAGAGATCATCAATTATGAATTTGACACCAAGGACCTGGTGTGCCTGGGCCTGAGCAGCATCGTTGGCGTCTGGTACCT
GCTGAGGAAGCACTGGATTGCCAACAACCTTTTTGGCCTGGCCTTCTCCCTTAATGGAGTAGAGCTCCTGCACCTCAACAATGTCAGCACTGGCTGCATCCTGCTGGGCGGACTCTTCATCTACGATG
TCTTCTGGGTATTTGGCACCAATGTGATGGTGACAGTGGCCAAGTCCTTCGAGGCACCAATAAAATTGGTGTTTCCCCAGGATCTGCTGGAGAAAGGCCTCGAAGCAAACAACTTTGCCATGCTGGGA
CTTGGAGATGTCGTCATTCCAGGGATCTTCATTGCCTTGCTGCTGCGCTTTGACATCAGCTTGAAGAAGAATACCCACACCTACTTCTACACCAGCTTTGCAGCCTACATCTTCGGCCTGGGCCTTAC
CATCTTCATCATGCACATCTTCAAGCATGCTCAGCCTGCCCTCCTATACCTGGTCCCCGCCTGCATCGGTTTTCCTGTCCTGGTGGCGCTGGCCAAGGGAGAAGTGACAGAGATGTTCAGTTATGAGG
AGTCAAATCCTAAGGATCCAGCGGCAGTGACAGAATCCAAAGAGGGAACAGAGGCATCAGCATCGAAGGGGCTGGAGAAGAAAGAGAAATGATGCAGCTGGTGCCCGAGCCTCTCAGGGCCAGACCAG
ACAGATGGGGGCTGGGCCCACACAGGCGTGCACCGGTAGAGGGCACAGGAGGCCAAGGGCAGCTCCAGGACAGGGCAGGGGGCAGCAGGATACCTCCAGCCAGGCCTCTGTGGCCTCTGTTTCCTTCT
CCCTTTCTTGGCCCTCCTCTGCTCCTCCCCACACCCTGCAGGCAAAAGAAACCCCCAGCTTCCCCCCTCCCCGGGAGCCAGGTGGGAAAAGTGGGTGTGATTTTTAGATTTTGTATTGTGGACTGATT
TTGCCTCACATTAAAAACTCATCCCATGGCCA

hide sequence

RefSeq Acc Id:

NM_178580 ⟹ NP_848695

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	31,514,442 - 31,569,543 (+)	NCBI
GRCh37	20	30,102,213 - 30,158,178 (+)	NCBI
Build 36	20	29,565,902 - 29,621,031 (+)	NCBI Archive
HuRef	20	26,890,412 - 26,945,730 (+)	NCBI
CHM1_1	20	30,006,122 - 30,061,281 (+)	NCBI
T2T-CHM13v2.0	20	33,238,668 - 33,293,768 (+)	NCBI

Sequence:

show sequence

ACTTCCTGTTGCCTTAGGGGAACGTGGCTTTCCCTGCAGAGCCGGTGTCTCCGCCTGCGTCCCT
GCTGCAGCAACCGGAGCTGGAGTCGGATCCCGAACGCACCCTCGCCATGGACTCGGCCCTCAGCGATCCGCATAACGGCAGTGCCGAGGCAGGCGGCCCCACCAACAGCACTACGCGGCCGCCTTCCA
CGCCCGAGGGCATCGCGCTGGCCTACGGCAGCCTCCTGCTCATGGCGCTGCTGCCCATCTTCTTCGGCGCCCTGCGCTCCGTACGCTGCGCCCGCGGCAAGAATGCTTCAGACATGCCTGAAACAATC
ACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAATATTCTCCCAGGAGTACATCAACCTCCTGCTGTCCATGTATTTCTTCGTGCTGGG
AATCCTGGCCCTGTCCCACACCATCAGCCCCTTCATGAATAAGTTTTTTCCAGCCAGCTTTCCAAATCGACAGTACCAGCTGCTCTTCACACAGGGTTCTGGGGAAAACAAGGAAGAGATCATCAATT
ATGAATTTGACACCAAGGACCTGGTGTGCCTGGGCCTGAGCAGCATCGTTGGCGTCTGGTACCTGCTGAGGAAGCACTGGATTGCCAACAACCTTTTTGGCCTGGCCTTCTCCCTTAATGGAGTAGAG
CTCCTGCACCTCAACAATGTCAGCACTGGCTGCATCCTGCTGGGCGGACTCTTCATCTACGATGTCTTCTGGGTATTTGGCACCAATGTGATGGTGACAGTGGCCAAGTCCTTCGAGGCACCAATAAA
ATTGGTGTTTCCCCAGGATCTGCTGGAGAAAGGCCTCGAAGCAAACAACTTTGCCATGCTGGGACTTGGAGATGTCGTCATTCCAGGGATCTTCATTGCCTTGCTGCTGCGCTTTGACATCAGCTTGA
AGAAGAATACCCACACCTACTTCTACACCAGCTTTGCAGCCTACATCTTCGGCCTGGGCCTTACCATCTTCATCATGCACATCTTCAAGCATGCTCAGCCTGCCCTCCTATACCTGGTCCCCGCCTGC
ATCGGTTTTCCTGTCCTGGTGGCGCTGGCCAAGGGAGAAGTGACAGAGATGTTCAGCTACGAGTCCTCGGCGGAAATCCTGCCTCATACCCCGAGGCTCACCCACTTCCCCACAGTCTCGGGCTCCCC
AGCCAGCCTGGCCGACTCCATGCAGCAGAAGCTAGCTGGCCCTCGCCGCCGGCGCCCGCAGAATCCCAGCGCCATGTAATGCCCAGCGGGTGCCCACCTGCCCGCTTCCCCCTACTGCCCCGGGGCCC
AAGTTATGAGGAGTCAAATCCTAAGGATCCAGCGGCAGTGACAGAATCCAAAGAGGGAACAGAGGCATCAGCATCGAAGGGGCTGGAGAAGAAAGAGAAATGATGCAGCTGGTGCCCGAGCCTCTCAG
GGCCAGACCAGACAGATGGGGGCTGGGCCCACACAGGCGTGCACCGGTAGAGGGCACAGGAGGCCAAGGGCAGCTCCAGGACAGGGCAGGGGGCAGCAGGATACCTCCAGCCAGGCCTCTGTGGCCTC
TGTTTCCTTCTCCCTTTCTTGGCCCTCCTCTGCTCCTCCCCACACCCTGCAGGCAAAAGAAACCCCCAGCTTCCCCCCTCCCCGGGAGCCAGGTGGGAAAAGTGGGTGTGATTTTTAGATTTTGTATT
GTGGACTGATTTTGCCTCACATTAAAAACTCATCCCATGGCCA

hide sequence

RefSeq Acc Id:

NM_178581 ⟹ NP_848696

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	31,514,442 - 31,569,543 (+)	NCBI
GRCh37	20	30,102,213 - 30,158,178 (+)	NCBI
Build 36	20	29,565,902 - 29,621,031 (+)	NCBI Archive
HuRef	20	26,890,412 - 26,945,730 (+)	NCBI
CHM1_1	20	30,006,122 - 30,061,281 (+)	NCBI
T2T-CHM13v2.0	20	33,238,668 - 33,293,768 (+)	NCBI

Sequence:

show sequence

ACTTCCTGTTGCCTTAGGGGAACGTGGCTTTCCCTGCAGAGCCGGTGTCTCCGCCTGCGTCCCT
GCTGCAGCAACCGGAGCTGGAGTCGGATCCCGAACGCACCCTCGCCATGGACTCGGCCCTCAGCGATCCGCATAACGGCAGTGCCGAGGCAGGCGGCCCCACCAACAGCACTACGCGGCCGCCTTCCA
CGCCCGAGGGCATCGCGCTGGCCTACGGCAGCCTCCTGCTCATGGCGCTGCTGCCCATCTTCTTCGGCGCCCTGCGCTCCGTACGCTGCGCCCGCGGCAAGAATGCTTCAGACATGCCTGAAACAATC
ACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAATATTCTCCCAGGAGTACATCAACCTCCTGCTGTCCATGTATTTCTTCGTGCTGGG
AATCCTGGCCCTGTCCCACACCATCAGCCCCTTCATGAATAAGTTTTTTCCAGCCAGCTTTCCAAATCGACAGTACCAGCTGCTCTTCACACAGGGTTCTGGGGAAAACAAGGAAGAGATCATCAATT
ATGAATTTGACACCAAGGACCTGGTGTGCCTGGGCCTGAGCAGCATCGTTGGCGTCTGGTACCTGCTGAGGAAGCACTGGATTGCCAACAACCTTTTTGGCCTGGCCTTCTCCCTTAATGGAGTAGAG
CTCCTGCACCTCAACAATGTCAGCACTGGCTGCATCCTGCTGGGCGGACTCTTCATCTACGATGTCTTCTGGGTATTTGGCACCAATGTGATGGTGACAGTGGCCAAGTCCTTCGAGGCACCAATAAA
ATTGGTGTTTCCCCAGGATCTGCTGGAGAAAGGCCTCGAAGCAAACAACTTTGCCATGCTGGGACTTGGAGATGTCGTCATTCCAGGGATCTTCATTGCCTTGCTGCTGCGCTTTGACATCAGCTTGA
AGAAGAATACCCACACCTACTTCTACACCAGCTTTGCAGCCTACATCTTCGGCCTGGGCCTTACCATCTTCATCATGCACATCTTCAAGCATGCTCAGCCTGCCCTCCTATACCTGGTCCCCGCCTGC
ATCGGTTTTCCTGTCCTGGTGGCGCTGGCCAAGGGAGAAGTGACAGAGATGTTCAGCTACGAGTCCTCGGCGGAAATCCTGCCTCATACCCCGAGGCTCACCCACTTCCCCACAGTCTCGGGCTCCCC
AGCCAGCCTGGCCGACTCCATGCAGCAGAAGCTAGCTGGCCCTCGCCGCCGGCGCCCGCAGAATCCCAGCGCCATTTATGAGGAGTCAAATCCTAAGGATCCAGCGGCAGTGACAGAATCCAAAGAGG
GAACAGAGGCATCAGCATCGAAGGGGCTGGAGAAGAAAGAGAAATGATGCAGCTGGTGCCCGAGCCTCTCAGGGCCAGACCAGACAGATGGGGGCTGGGCCCACACAGGCGTGCACCGGTAGAGGGCA
CAGGAGGCCAAGGGCAGCTCCAGGACAGGGCAGGGGGCAGCAGGATACCTCCAGCCAGGCCTCTGTGGCCTCTGTTTCCTTCTCCCTTTCTTGGCCCTCCTCTGCTCCTCCCCACACCCTGCAGGCAA
AAGAAACCCCCAGCTTCCCCCCTCCCCGGGAGCCAGGTGGGAAAAGTGGGTGTGATTTTTAGATTTTGTATTGTGGACTGATTTTGCCTCACATTAAAAACTCATCCCATGGCCA

hide sequence

RefSeq Acc Id:

NM_178582 ⟹ NP_848697

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	31,514,442 - 31,541,733 (+)	NCBI
GRCh37	20	30,102,213 - 30,158,178 (+)	NCBI
Build 36	20	29,565,902 - 29,591,257 (+)	NCBI Archive
HuRef	20	26,890,412 - 26,945,730 (+)	NCBI
CHM1_1	20	30,006,122 - 30,031,636 (+)	NCBI
T2T-CHM13v2.0	20	33,238,668 - 33,265,958 (+)	NCBI

Sequence:

show sequence

ACTTCCTGTTGCCTTAGGGGAACGTGGCTTTCCCTGCAGAGCCGGTGTCTCCGCCTGCGTCCCTGCTGCAGCAACCGGAGCTGGAGTCGGATCCCGAACGCACCCTCGCCATGGACTCGGCCCTCAGC
GATCCGCATAACGGCAGTGCCGAGGCAGGCGGCCCCACCAACAGCACTACGCGGCCGCCTTCCACGCCCGAGGGCATCGCGCTGGCCTACGGCAGCCTCCTGCTCATGGCGCTGCTGCCCATCTTCTT
CGGCGCCCTGCGCTCCGTACGCTGCGCCCGCGGCAAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCT
TTTTCAAAATATTCTCCCAGGAGTACATCAACCTCCTGCTGTCCATGTATTTCTTCGTGCTGGGAATCCTGGCCCTGTCCCACACCATCAGGTCAGAAGGCATCTCTCTGCAACATTTGAAGCAGCTT
TCTCGGGAACCAGTACAGGGTCTTGGATGAGAACATGACTTTTGGCATCATTCAGAGCCAGGTTTGAATCCTGGCTATAAAACTCAAGGGACTCTTTCCCCTGCACACTGTAGATGACTAGGACAAGA
ACAATGACCTCTCTGGGCCACAGTTTCCTTATAGACATGATGAGGATCTGGTGGGTGTTTCCACCACCACAGCTGTTGGGAAAGTGATTTGTGAGCAGTAATGTCATGTTAGTTGTGACAGTACTCAG
GTGAGTAACACCAGTACCACCTGCCGGGTGTTGTGGCCTAGCTGTGTGCTAAGTGCCATGTTGGGCTCCTCACACATGATCGTGTTTCGTAAGGAGCCAGAGGCAGCATAGTGAAAAGTTAGGAGCGT
GGGCTCTGGCATTTGACTACCTTACTTTGAGTCCAGACTCTGCCACTTAATAGCTCTGTGATCTTGGGCAAGTTACTTAATCTCTCTGGCCTCAATTTCCTGGTGAATGTGGAGAAAAATAATAGTGC
CCTTCCCATGGGGTCATGTGGAAAGCTTTTAGCACAGTATCTGGTGATTTAAAGTGTTCAGTAACTATTAGCTGTTACTGTCATTATCTGTGTTAACCTGCCAGACAACCTTATATGGGTTGCTTTTG
CTTTCACACCTGTATGATAGTCATGGAAACTGAAGCCCAGAGAGGTTAAGAAATTTGCTAGGATCACACCACTAATAAGCAACAGAGCCAGGATTCAAACCCAGGTGTGGCTCCAGAGCCCATCCTCT
TCCCACTGCTACCCTAACTCAAACTGCCACATGCTCGTGTCCTTTCAGTGGGGAGAGTGGTTCATTAGAGGGGGTTGCTACTTTTATTTTGGACAGGCCAGTTCTCCATTCTGCAGGACTATCCCATG
TATTACAAACAGTTGGCAACCTTGCCCTGCTCACCAAATGGGAGTTGCATACCAGTATTCCCCAGCTTGTGACTACAGAGATGTCCCAGTATGTTTCTTTCTGCCCCGTTGAAGAGGTGCAGCCTCAG
GCTGAGAAACACTGATAGACCAAGAGGTGGCCAGGGTTCCCAGAAGGAAGGAACTCACCTTGAACTTAGCTTTCTTTGAAGGGTAGGAAACCTGGAAGACGTACAAAGGAGGGAGAGGTCAGGTGCTA
GAAAGTTTGTGCACATTGAGGGCATGGGCAGAATCTGCTCCCAAAAGCATTGAAAGCCAATATGAGGCCAGGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACA
AGGTCAGGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAG
AATCATTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCATTCCAGCCTGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAGCCAATATGAATGTGGCTTCATTCTT
CTAGGCACACTGGCAGGACAGTGTGGTAGTCAGGAGCACAGGGTCAAGAGGCAGGCAGCCTTGGGACAAACACCTGGTGCTGCCAGCTCTAATATGTGTAAATTACTCAAGCTCTGAGCATAGTTCTT
CTACCTATAAAATGGAGAGACTACAGGTACCTCCTCAGAGGTGTGGGGAGGGTCTAGTGAGCCCCAGGCTGTAACATCCCTAGAGCACAGTGCCAAGCACACAGTGAGCCTAGTGGCTGGCCCAGGGT
TACACAGCTGAGACTTCACCTCTGGTCTTCCCACTGAGGTCATTGTTGTCCTCACCTGCACTGACTCTTCACCCACAAAATTCTATTCTAGCTAGCTTGGGAGAATTCTAGTCCAGCCCCGCATCCTG
AAAAATGGAGGCCCAGGGAACCTGAGTGACTTGGACCCAACCAAGATAATGGCAGGCCCAGTCGCCCTTGCTCACAGGACAAACCAGTCCTTTCGTGGTGGACCTGGGGTGGGGTGGGGGCAGTCACT
TGCAGACATTGGGTGTCCTCCTTTCCCATGCTGATTAGGATCCTCCCCAACTGTAGCCCATCCTACCCCAGCATCTGTGAGACGCTTGAGACCCCCAAGTCTCCCCACAGCCCAGCCTCCACCTCAGA
GAGCCCAGTGGGTTTTGAAAGCCACTGTTAGGCTGTGTGCTGAGGAACTGATTATTTAATGTTATAGCAACAACCCTACAATGAAGATCTTATCTCTACCCAGCTGCCTAGGCAGGGTATTTTGAACC
TTTATCATCTTGACACCAAAGACTTTTTTTCCCTTTTAGAATAATAACTAAGGGACATTGTCCCAAATTTCTCATAGATGAGTAATCTATGTCAAGAAATAATTGAGGGTGGGCACGGTGGCTCACAC
CTGTAATCGCAGCACTTTGTGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTTGTCTACTAAAAATACAAAAAAGTAGCCGGGTGTGATGAC
GCACCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTCGCAATGAGTCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCCATCTCAAAAAAA
AAAAAAAGAAATAATTGTCTATCTGTCTTTTAGCCACTTCATAATTTTTAGAGATAGATATTATCAACAGAAAATAAAACCAACAGCAGCTAAAACTGCACATGGTAAAATGTATGAGTGACTAGAAA
CTAACAGAAGAATAATTTTCTTAATGAAATTTAGAGCAACAAAATTTGACCTGGGAAAACCATACCTTTTAAAAATAATGGATCACCTGGGCATGGTGGTTCACACCTGTCATCCCAGCACTTTGGGA
ACCCTAGGCTGTTGGATCACCTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGTTGAGACCCTGTCTCCACAAAAAATACAAAAATTAGCCGGGTATGGTGGTGCGTGCCTGTGGTCCCAACTG
CTCGGTAGGCTGAGGTGGGATGATCGCGTGAACCTGGGAGGCAGAGAGGTTGCAGTGAGCTGTGATCATGCCACTGCACTCCAGCCTGGGTAACAGAGTAAGACCCCATCTGAAAAATATAAAAAAAA
AAAAAAAAGAATAATGGATGGCCATAGGCAGAAGGTATGCTTACCATATGGGGTTAAAGCTGGTCCACTAAAAAATTTGATGGGGACCAAAAACTGTCAGATGAAGGAAATCATTATTGTAAAATTAA
CATGAAAAAGAACTGAATCCAGTGAAAATAATTTTAGTAAGTAGGGGATGATTTGATCATGCTTTTTAGAAAGTTGGTCTACCAATTAAATGGATGTTTCAATTAAA

hide sequence


Protein RefSeqs	NP_110416	(Get FASTA)	NCBI Sequence Viewer
	NP_848695	(Get FASTA)	NCBI Sequence Viewer
	NP_848696	(Get FASTA)	NCBI Sequence Viewer
	NP_848697	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH08938	(Get FASTA)	NCBI Sequence Viewer
	AAH08959	(Get FASTA)	NCBI Sequence Viewer
	AAH62595	(Get FASTA)	NCBI Sequence Viewer
	AAM22076	(Get FASTA)	NCBI Sequence Viewer
	AAN77099	(Get FASTA)	NCBI Sequence Viewer
	AAO12535	(Get FASTA)	NCBI Sequence Viewer
	AAO12536	(Get FASTA)	NCBI Sequence Viewer
	AAO12537	(Get FASTA)	NCBI Sequence Viewer
	AAQ13609	(Get FASTA)	NCBI Sequence Viewer
	ABA56163	(Get FASTA)	NCBI Sequence Viewer
	ALQ34248	(Get FASTA)	NCBI Sequence Viewer
	ALQ34249	(Get FASTA)	NCBI Sequence Viewer
	BAC11138	(Get FASTA)	NCBI Sequence Viewer
	BAC11519	(Get FASTA)	NCBI Sequence Viewer
	BAG37032	(Get FASTA)	NCBI Sequence Viewer
	CAC87790	(Get FASTA)	NCBI Sequence Viewer
	CAD13132	(Get FASTA)	NCBI Sequence Viewer
	CAF86750	(Get FASTA)	NCBI Sequence Viewer
	CAJ75919	(Get FASTA)	NCBI Sequence Viewer
	CBY88428	(Get FASTA)	NCBI Sequence Viewer
	EAW76435	(Get FASTA)	NCBI Sequence Viewer
	EAW76436	(Get FASTA)	NCBI Sequence Viewer
	EAW76437	(Get FASTA)	NCBI Sequence Viewer
	EAW76438	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000343032
	ENSP00000343032.5
	ENSP00000381237
	ENSP00000381237.3
	ENSP00000479020
	ENSP00000501423
	ENSP00000501423.1
GenBank Protein	Q8TCT9	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_848695 ⟸ NM_178580
- Peptide Label:	isoform 2
- UniProtKB:	A0A3B3IUB5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDSALSDPHNGSAEAGGPTNSTTRPPSTPEGIALAYGSLLLMALLPIFFGALRSVRCARGKNASDMPETITSRDAARFPIIASCTLLGLYLFFKIFSQEYINLLLSMYFFVLGILALSHTISPFMNKF FPASFPNRQYQLLFTQGSGENKEEIINYEFDTKDLVCLGLSSIVGVWYLLRKHWIANNLFGLAFSLNGVELLHLNNVSTGCILLGGLFIYDVFWVFGTNVMVTVAKSFEAPIKLVFPQDLLEKGLEAN NFAMLGLGDVVIPGIFIALLLRFDISLKKNTHTYFYTSFAAYIFGLGLTIFIMHIFKHAQPALLYLVPACIGFPVLVALAKGEVTEMFSYESSAEILPHTPRLTHFPTVSGSPASLADSMQQKLAGPR RRRPQNPSAM hide sequence

RefSeq Acc Id:	NP_848696 ⟸ NM_178581
- Peptide Label:	isoform 3
- UniProtKB:	A0A3B3IUB5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDSALSDPHNGSAEAGGPTNSTTRPPSTPEGIALAYGSLLLMALLPIFFGALRSVRCARGKNAS DMPETITSRDAARFPIIASCTLLGLYLFFKIFSQEYINLLLSMYFFVLGILALSHTISPFMNKFFPASFPNRQYQLLFTQGSGENKEEIINYEFDTKDLVCLGLSSIVGVWYLLRKHWIANNLFGLAF SLNGVELLHLNNVSTGCILLGGLFIYDVFWVFGTNVMVTVAKSFEAPIKLVFPQDLLEKGLEANNFAMLGLGDVVIPGIFIALLLRFDISLKKNTHTYFYTSFAAYIFGLGLTIFIMHIFKHAQPALL YLVPACIGFPVLVALAKGEVTEMFSYESSAEILPHTPRLTHFPTVSGSPASLADSMQQKLAGPRRRRPQNPSAIYEESNPKDPAAVTESKEGTEASASKGLEKKEK hide sequence

RefSeq Acc Id:	NP_110416 ⟸ NM_030789
- Peptide Label:	isoform 1
- UniProtKB:	Q9H110 (UniProtKB/Swiss-Prot), Q95H87 (UniProtKB/Swiss-Prot), Q86Y35 (UniProtKB/Swiss-Prot), Q7Z4F2 (UniProtKB/Swiss-Prot), Q5JWP5 (UniProtKB/Swiss-Prot), Q5JWP4 (UniProtKB/Swiss-Prot), Q5JWP3 (UniProtKB/Swiss-Prot), Q5JWP2 (UniProtKB/Swiss-Prot), Q540H8 (UniProtKB/Swiss-Prot), Q15K36 (UniProtKB/Swiss-Prot), E1P5L3 (UniProtKB/Swiss-Prot), B2RAY5 (UniProtKB/Swiss-Prot), Q9H111 (UniProtKB/Swiss-Prot), Q8TCT9 (UniProtKB/Swiss-Prot), A0A0S2Z5V7 (UniProtKB/TrEMBL), A0A3B3IUB5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDSALSDPHNGSAEAGGPTNSTTRPPSTPEGIALAYGSLLLMALLPIFFGALRSVRCARGKNASDMPETITSRDAARFPIIASCTLLGLYLFFKIFSQEYINLLLSMYFFVLGILALSHTISPFMNKF FPASFPNRQYQLLFTQGSGENKEEIINYEFDTKDLVCLGLSSIVGVWYLLRKHWIANNLFGLAFSLNGVELLHLNNVSTGCILLGGLFIYDVFWVFGTNVMVTVAKSFEAPIKLVFPQDLLEKGLEAN NFAMLGLGDVVIPGIFIALLLRFDISLKKNTHTYFYTSFAAYIFGLGLTIFIMHIFKHAQPALLYLVPACIGFPVLVALAKGEVTEMFSYEESNPKDPAAVTESKEGTEASASKGLEKKEK hide sequence

RefSeq Acc Id:	NP_848697 ⟸ NM_178582
- Peptide Label:	isoform 4
- UniProtKB:	A0A0C4DGU3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDSALSDPHNGSAEAGGPTNSTTRPPSTPEGIALAYGSLLLMALLPIFFGALRSVRCARGKNASDMPETITSRDAARFPIIASCTLLGLYLFFKIFSQEYINLLLSMYFFVLGILALSHTIRSEGISL QHLKQLSREPVQGLG hide sequence

Ensembl Acc Id:

ENSP00000381237 ⟸ ENST00000398174

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8TCT9-F1-model_v2	AlphaFold	Q8TCT9	1-377	view protein structure

RGD ID:

6798805

Promoter ID:

HG_KWN:38977

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000376127, ENST00000398164, ENST00000398174, NM_178582, OTTHUMT00000078525, OTTHUMT00000078527, OTTHUMT00000078530, OTTHUMT00000078531, OTTHUMT00000078533, OTTHUMT00000078534

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	20	29,565,734 - 29,566,234 (+)	MPROMDB

RGD ID:

6798809

Promoter ID:

HG_KWN:38978

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Jurkat, K562, Lymphoblastoid

Transcripts:

OTTHUMT00000078535, OTTHUMT00000078536

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	20	29,588,881 - 29,590,022 (+)	MPROMDB

RGD ID:

6798808

Promoter ID:

HG_KWN:38979

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, Lymphoblastoid

Transcripts:

OTTHUMT00000078522

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	20	29,595,556 - 29,596,056 (+)	MPROMDB

RGD ID:

6798810

Promoter ID:

HG_KWN:38980

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

OTTHUMT00000078517, OTTHUMT00000078518, OTTHUMT00000078520, OTTHUMT00000078524, OTTHUMT00000078526, OTTHUMT00000078537, OTTHUMT00000078538, OTTHUMT00000078541, OTTHUMT00000078542, UC002WWF.1, UC010GDU.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	20	29,598,781 - 29,599,732 (+)	MPROMDB

RGD ID:

6798811

Promoter ID:

HG_KWN:38981

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000078539, OTTHUMT00000078540, OTTHUMT00000078543

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	20	29,605,156 - 29,606,932 (+)	MPROMDB

RGD ID:

6798807

Promoter ID:

HG_KWN:38983

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000078521, OTTHUMT00000078523

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	20	29,617,241 - 29,617,772 (+)	MPROMDB

RGD ID:

13206601

Promoter ID:

EPDNEW_H26881

Type:

initiation region

Name:

HM13_1

Description:

histocompatibility minor 13

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	31,514,442 - 31,514,502	EPDNEW

Database	Acc Id	Source(s)
COSMIC	HM13	COSMIC
Ensembl Genes	ENSG00000101294	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000340852	ENTREZGENE
	ENST00000340852.9	UniProtKB/Swiss-Prot
	ENST00000398174	ENTREZGENE
	ENST00000398174.9	UniProtKB/Swiss-Prot
	ENST00000498035	ENTREZGENE
	ENST00000674240	ENTREZGENE
	ENST00000674240.1	UniProtKB/Swiss-Prot
GTEx	ENSG00000101294	GTEx
HGNC ID	HGNC:16435	ENTREZGENE
Human Proteome Map	HM13	Human Proteome Map
InterPro	Peptidase_A22B_SPP	UniProtKB/Swiss-Prot
	Preselin/SPP	UniProtKB/Swiss-Prot
KEGG Report	hsa:81502	UniProtKB/Swiss-Prot
NCBI Gene	81502	ENTREZGENE
OMIM	607106	OMIM
PANTHER	MINOR HISTOCOMPATIBILITY ANTIGEN H13	UniProtKB/Swiss-Prot
	PTHR12174	UniProtKB/Swiss-Prot
Pfam	Peptidase_A22B	UniProtKB/Swiss-Prot
PharmGKB	PA29314	PharmGKB
SMART	PSN	UniProtKB/Swiss-Prot
UniProt	A0A075B6F6_HUMAN	UniProtKB/TrEMBL
	A0A087WVH6_HUMAN	UniProtKB/TrEMBL
	A0A0C4DGU3	ENTREZGENE, UniProtKB/TrEMBL
	A0A0S2Z5V7	ENTREZGENE, UniProtKB/TrEMBL
	A0A0S2Z6F0_HUMAN	UniProtKB/TrEMBL
	A0A3B3IT72_HUMAN	UniProtKB/TrEMBL
	A0A3B3IUB5	ENTREZGENE, UniProtKB/TrEMBL
	B2RAY5	ENTREZGENE
	E1P5L3	ENTREZGENE
	HM13_HUMAN	UniProtKB/Swiss-Prot
	Q15K36	ENTREZGENE
	Q540H8	ENTREZGENE
	Q5JWP2	ENTREZGENE
	Q5JWP3	ENTREZGENE
	Q5JWP4	ENTREZGENE
	Q5JWP5	ENTREZGENE
	Q7Z4F2	ENTREZGENE
	Q86Y35	ENTREZGENE
	Q8TCT9	ENTREZGENE
	Q95H87	ENTREZGENE
	Q9H110	ENTREZGENE
	Q9H111	ENTREZGENE
UniProt Secondary	B2RAY5	UniProtKB/Swiss-Prot
	E1P5L3	UniProtKB/Swiss-Prot
	Q15K36	UniProtKB/Swiss-Prot
	Q540H8	UniProtKB/Swiss-Prot
	Q5JWP2	UniProtKB/Swiss-Prot
	Q5JWP3	UniProtKB/Swiss-Prot
	Q5JWP4	UniProtKB/Swiss-Prot
	Q5JWP5	UniProtKB/Swiss-Prot
	Q7Z4F2	UniProtKB/Swiss-Prot
	Q86Y35	UniProtKB/Swiss-Prot
	Q95H87	UniProtKB/Swiss-Prot
	Q9H110	UniProtKB/Swiss-Prot
	Q9H111	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-06-28	HM13	histocompatibility minor 13	HM13	histocompatibility (minor) 13	Symbol and/or name change	5135510	APPROVED

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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