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Gene: TTC7A (tetratricopeptide repeat domain 7A) Homo sapiens

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Symbol:

TTC7A

Name:

tetratricopeptide repeat domain 7A

RGD ID:

1314700

HGNC Page

HGNC:19750

Description:

Involved in protein localization to plasma membrane. Predicted to be located in cytoplasm. Predicted to be active in plasma membrane. Implicated in multiple intestinal atresia.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

GIDID; MGC131720; MGC134830; MINAT; tetratricopeptide repeat domain 7; tetratricopeptide repeat protein 7A; TPR repeat protein 7A; TTC7

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):	Ttc7 (tetratricopeptide repeat domain 7)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Ttc7a (tetratricopeptide repeat domain 7A)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Ttc7a (tetratricopeptide repeat domain 7A)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	TTC7A (tetratricopeptide repeat domain 7A)	NCBI	Ortholog
Canis lupus familiaris (dog):	TTC7A (tetratricopeptide repeat domain 7A)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Ttc7a (tetratricopeptide repeat domain 7A)	NCBI	Ortholog
Sus scrofa (pig):	TTC7A (tetratricopeptide repeat domain 7A)	HGNC	Ensembl, NCBI, OrthoDB, Panther
Chlorocebus sabaeus (green monkey):	TTC7A (tetratricopeptide repeat domain 7A)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Ttc7a (tetratricopeptide repeat domain 7A)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Ttc7b (tetratricopeptide repeat domain 7B)	HGNC	OrthoMCL
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Ttc7a (tetratricopeptide repeat domain 7A)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Ttc7 (tetratricopeptide repeat domain 7)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	ttc7a (tetratricopeptide repeat domain 7A)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|PANTHER\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	ttc-7	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	l(2)k14710	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	ttc7a.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	ttc7a	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	ttc7a.S	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	46,915,866 - 47,076,123 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	46,915,869 - 47,076,137 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	47,143,005 - 47,303,262 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	47,021,817 - 47,156,779 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	2	47,007,266 - 47,142,129 (+)	NCBI		Celera
Cytogenetic Map	2	p21	NCBI
HuRef	2	46,906,000 - 47,040,351 (+)	NCBI		HuRef
CHM1_1	2	47,098,597 - 47,233,491 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	2	46,920,640 - 47,080,920 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TTC7A	Human	common variable immunodeficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Common variable immunodeficiency	ClinVar	PMID:25741868 more ...
TTC7A	Human	common variable immunodeficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Common variable immunodeficiency	ClinVar	PMID:17576681 more ...
TTC7A	Human	Gastrointestinal defects and immunodeficiency syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome	ClinVar	PMID:23830146 more ...
TTC7A	Human	Gastrointestinal defects and immunodeficiency syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome	ClinVar	PMID:23423984 more ...
TTC7A	Human	Gastrointestinal defects and immunodeficiency syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome	ClinVar	PMID:25741868 and PMID:28492532
TTC7A	Human	Gastrointestinal defects and immunodeficiency syndrome		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome	ClinVar
TTC7A	Human	Gastrointestinal defects and immunodeficiency syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome	ClinVar	PMID:24417819 more ...
TTC7A	Human	Gastrointestinal defects and immunodeficiency syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome	ClinVar	PMID:16199547 more ...
TTC7A	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
TTC7A	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 and PMID:28492532
TTC7A	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
TTC7A	Human	Lynch syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms	ClinVar	PMID:28492532
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:17576681 more ...
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:23830146 more ...
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:23830146 more ...
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:23830146 more ...
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868 and PMID:28492532
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:23830146 more ...
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:16199547 more ...
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:28492532 and PMID:34975848
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:23423984 more ...
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:23830146 more ...
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:24033266 and PMID:28492532
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:24033266 more ...
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome 1	ClinVar	PMID:24292712
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: TTC7A-related condition	ClinVar	PMID:23830146 more ...
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:24417819 more ...
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:26193622 and PMID:28492532
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:24292712 more ...
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:16199547 more ...
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:28492532 and PMID:35627206
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:16199547 more ...
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:25174867 more ...
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:24417819 more ...
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:24417819 more ...
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:16199547 more ...
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:25741868 more ...
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome 1	ClinVar	PMID:25741868 more ...
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:25741868 more ...
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome 1	ClinVar	PMID:24266605 more ...
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:24292712 more ...
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:23830146 and PMID:28492532
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:17576681 more ...
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:28492532 and PMID:29174094
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:23830146 more ...
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:25741868 more ...
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:24292712 and PMID:28492532
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:16199547 more ...
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple gastrointestinal atresias	ClinVar	PMID:25741868 and PMID:26938784
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome 1	ClinVar	PMID:24417819
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868 and PMID:28492532
TTC7A	Human	multiple intestinal atresia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome 1	ClinVar	PMID:23830146
TTC7A	Human	severe combined immunodeficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Severe combined immunodeficiency disease	ClinVar

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TTC7A	Human	multiple intestinal atresia		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TTC7A	Human	psoriasis		ISS	Ttc7 (Mus musculus)	13592920	OMIM:177900 more ...	MouseDO

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TTC7A	Human	multiple intestinal atresia		IAGP		7240710		OMIM

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TTC7A	Human	1,2-dimethylhydrazine	increases expression	ISO	Ttc7 (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in increased expression of TTC7 mRNA	CTD	PMID:22206623
TTC7A	Human	1,2-dimethylhydrazine	multiple interactions	ISO	Ttc7 (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in increased expression of TTC7 mRNA	CTD	PMID:22206623
TTC7A	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Ttc7 (Mus musculus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of TTC7 mRNA	CTD	PMID:19933214
TTC7A	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Ttc7 (Mus musculus)	6480464	Tetrachlorodibenzodioxin results in increased expression of TTC7 mRNA	CTD	PMID:28213091
TTC7A	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	Ttc7 (Mus musculus)	6480464	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to TTC7 gene]	CTD	PMID:28213091
TTC7A	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Ttc7 (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of TTC7 mRNA	CTD	PMID:21570461
TTC7A	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Ttc7a (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of TTC7 mRNA and Tetrachlorodibenzodioxin results in decreased expression of TTC7A mRNA	CTD	PMID:21215274 and PMID:33387578
TTC7A	Human	3,3',4,4'-tetrachlorobiphenyl	multiple interactions	ISO	Ttc7 (Mus musculus)	6480464	3 more ...	CTD	PMID:19467301
TTC7A	Human	4,4'-sulfonyldiphenol	decreases expression	ISO	Ttc7 (Mus musculus)	6480464	bisphenol S results in decreased expression of TTC7 mRNA	CTD	PMID:39298647
TTC7A	Human	4,4'-sulfonyldiphenol	affects methylation	ISO	Ttc7 (Mus musculus)	6480464	bisphenol S affects the methylation of TTC7 gene	CTD	PMID:31683443
TTC7A	Human	5-aza-2'-deoxycytidine	multiple interactions	EXP		6480464	Decitabine inhibits the reaction [Smoke results in decreased expression of TTC7 mRNA]	CTD	PMID:21095227
TTC7A	Human	6-propyl-2-thiouracil	decreases expression	ISO	Ttc7a (Rattus norvegicus)	6480464	Propylthiouracil results in decreased expression of TTC7A mRNA	CTD	PMID:30047161
TTC7A	Human	acrylamide	increases expression	EXP		6480464	Acrylamide results in increased expression of TTC7A mRNA	CTD	PMID:32763439
TTC7A	Human	aflatoxin B1	decreases methylation	EXP		6480464	Aflatoxin B1 results in decreased methylation of TTC7A intron and Aflatoxin B1 results in decreased methylation of TTC7A promoter	CTD	PMID:30157460
TTC7A	Human	Aflatoxin B2 alpha	decreases methylation	EXP		6480464	aflatoxin B2 results in decreased methylation of TTC7A intron	CTD	PMID:30157460
TTC7A	Human	amitrole	decreases expression	ISO	Ttc7a (Rattus norvegicus)	6480464	Amitrole results in decreased expression of TTC7A mRNA	CTD	PMID:30047161
TTC7A	Human	arsane	affects expression	EXP		6480464	Arsenic affects the expression of TTC7A mRNA	CTD	PMID:18414638
TTC7A	Human	arsenic atom	affects expression	EXP		6480464	Arsenic affects the expression of TTC7A mRNA	CTD	PMID:18414638
TTC7A	Human	atrazine	affects methylation	ISO	Ttc7a (Rattus norvegicus)	6480464	Atrazine affects the methylation of TTC7A gene	CTD	PMID:35440735
TTC7A	Human	benzo[a]pyrene	multiple interactions	ISO	Ttc7 (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 TTC7 mRNA	CTD	PMID:27858113
TTC7A	Human	benzo[a]pyrene	decreases expression	EXP		6480464	Benzo(a)pyrene results in decreased expression of TTC7A mRNA	CTD	PMID:32234424
TTC7A	Human	benzo[a]pyrene	decreases methylation	ISO	Ttc7 (Mus musculus)	6480464	Benzo(a)pyrene results in decreased methylation of TTC7 exon	CTD	PMID:27901495
TTC7A	Human	benzo[a]pyrene	affects methylation	ISO	Ttc7 (Mus musculus)	6480464	Benzo(a)pyrene affects the methylation of TTC7 intron	CTD	PMID:27901495
TTC7A	Human	benzo[b]fluoranthene	decreases expression	ISO	Ttc7 (Mus musculus)	6480464	benzo(b)fluoranthene results in decreased expression of TTC7 mRNA	CTD	PMID:26377693
TTC7A	Human	benzo[b]fluoranthene	multiple interactions	ISO	Ttc7 (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 TTC7 mRNA	CTD	PMID:27858113
TTC7A	Human	bisphenol A	decreases expression	ISO	Ttc7a (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of TTC7A mRNA	CTD	PMID:25181051 more ...
TTC7A	Human	bisphenol A	increases expression	ISO	Ttc7 (Mus musculus)	6480464	bisphenol A results in increased expression of TTC7 mRNA	CTD	PMID:32156529
TTC7A	Human	bisphenol A	decreases methylation	EXP		6480464	bisphenol A results in decreased methylation of TTC7A gene	CTD	PMID:31601247
TTC7A	Human	bisphenol F	increases expression	ISO	Ttc7 (Mus musculus)	6480464	bisphenol F results in increased expression of TTC7 mRNA	CTD	PMID:38685157
TTC7A	Human	bortezomib	decreases expression	EXP		6480464	Bortezomib results in decreased expression of TTC7A mRNA	CTD	PMID:20977926
TTC7A	Human	carbon nanotube	decreases expression	ISO	Ttc7 (Mus musculus)	6480464	Nanotubes and Carbon results in decreased expression of TTC7 mRNA	CTD	PMID:25620056
TTC7A	Human	chlorpyrifos	decreases expression	ISO	Ttc7 (Mus musculus)	6480464	Chlorpyrifos results in decreased expression of TTC7 mRNA	CTD	PMID:37019170
TTC7A	Human	chrysene	multiple interactions	ISO	Ttc7 (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 TTC7 mRNA	CTD	PMID:27858113
TTC7A	Human	doxorubicin	decreases expression	EXP		6480464	Doxorubicin results in decreased expression of TTC7A mRNA	CTD	PMID:29803840
TTC7A	Human	endosulfan	increases expression	ISO	Ttc7a (Rattus norvegicus)	6480464	Endosulfan results in increased expression of TTC7A mRNA	CTD	PMID:29391264
TTC7A	Human	epoxiconazole	decreases expression	ISO	Ttc7 (Mus musculus)	6480464	epoxiconazole results in decreased expression of TTC7 mRNA	CTD	PMID:35436446
TTC7A	Human	fipronil	increases expression	ISO	Ttc7a (Rattus norvegicus)	6480464	fipronil results in increased expression of TTC7A mRNA	CTD	PMID:34044035
TTC7A	Human	folic acid	multiple interactions	ISO	Ttc7 (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in increased expression of TTC7 mRNA	CTD	PMID:22206623
TTC7A	Human	folic acid	decreases expression	EXP		6480464	Folic Acid results in decreased expression of TTC7A mRNA	CTD	PMID:21867686
TTC7A	Human	FR900359	increases phosphorylation	EXP		6480464	FR900359 results in increased phosphorylation of TTC7A protein	CTD	PMID:37730182
TTC7A	Human	gentamycin	increases expression	ISO	Ttc7a (Rattus norvegicus)	6480464	Gentamicins results in increased expression of TTC7A mRNA	CTD	PMID:33387578
TTC7A	Human	lead(0)	decreases expression	EXP		6480464	Lead results in decreased expression of TTC7A mRNA	CTD	PMID:19921347
TTC7A	Human	lipopolysaccharide	decreases expression	EXP		6480464	Lipopolysaccharides results in decreased expression of TTC7A mRNA	CTD	PMID:35811015
TTC7A	Human	lipopolysaccharide	multiple interactions	EXP		6480464	[S-(1 and 2-dichlorovinyl)cysteine affects the susceptibility to Lipopolysaccharides] which results in increased expression of TTC7A mRNA	CTD	PMID:35811015
TTC7A	Human	lovastatin	multiple interactions	ISO	Ttc7 (Mus musculus)	6480464	[Dietary Fats co-treated with Lovastatin] affects the expression of FSN mRNA	CTD	PMID:29852127
TTC7A	Human	methimazole	decreases expression	ISO	Ttc7a (Rattus norvegicus)	6480464	Methimazole results in decreased expression of TTC7A mRNA	CTD	PMID:30047161
TTC7A	Human	methoxychlor	affects methylation	ISO	Ttc7a (Rattus norvegicus)	6480464	Methoxychlor affects the methylation of TTC7A gene	CTD	PMID:35440735
TTC7A	Human	methyl methanesulfonate	increases expression	EXP		6480464	Methyl Methanesulfonate results in increased expression of TTC7A mRNA	CTD	PMID:23649840
TTC7A	Human	paracetamol	affects expression	ISO	Ttc7 (Mus musculus)	6480464	Acetaminophen affects the expression of TTC7 mRNA	CTD	PMID:17562736
TTC7A	Human	paracetamol	increases expression	ISO	Ttc7a (Rattus norvegicus)	6480464	Acetaminophen results in increased expression of TTC7A mRNA	CTD	PMID:33387578
TTC7A	Human	paracetamol	increases expression	EXP		6480464	Acetaminophen results in increased expression of TTC7A mRNA	CTD	PMID:22230336
TTC7A	Human	pentachlorophenol	decreases expression	ISO	Ttc7 (Mus musculus)	6480464	Pentachlorophenol results in decreased expression of TTC7 mRNA	CTD	PMID:23892564
TTC7A	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 TTC7A mRNA	CTD	PMID:19710929
TTC7A	Human	pregnenolone 16alpha-carbonitrile	decreases expression	ISO	Ttc7a (Rattus norvegicus)	6480464	Pregnenolone Carbonitrile results in decreased expression of TTC7A mRNA	CTD	PMID:30047161
TTC7A	Human	S-(1,2-dichlorovinyl)-L-cysteine	multiple interactions	EXP		6480464	[S-(1 and 2-dichlorovinyl)cysteine affects the susceptibility to Lipopolysaccharides] which results in increased expression of TTC7A mRNA	CTD	PMID:35811015
TTC7A	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of TTC7A protein	CTD	PMID:21925251
TTC7A	Human	succimer	multiple interactions	ISO	Ttc7 (Mus musculus)	6480464	[Succimer binds to Magnetite Nanoparticles] which results in decreased expression of TTC7 mRNA	CTD	PMID:21641980
TTC7A	Human	sulfadimethoxine	decreases expression	ISO	Ttc7a (Rattus norvegicus)	6480464	Sulfadimethoxine results in decreased expression of TTC7A mRNA	CTD	PMID:30047161
TTC7A	Human	sulforaphane	decreases expression	EXP		6480464	sulforaphane results in decreased expression of TTC7A mRNA	CTD	PMID:31838189
TTC7A	Human	sunitinib	decreases expression	EXP		6480464	Sunitinib results in decreased expression of TTC7A mRNA	CTD	PMID:31533062
TTC7A	Human	T-2 toxin	increases expression	EXP		6480464	T-2 Toxin results in increased expression of TTC7A mRNA	CTD	PMID:34581912
TTC7A	Human	tetrachloromethane	affects expression	ISO	Ttc7 (Mus musculus)	6480464	Carbon Tetrachloride affects the expression of TTC7 mRNA	CTD	PMID:17484886
TTC7A	Human	tetraphene	multiple interactions	ISO	Ttc7 (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 TTC7 mRNA	CTD	PMID:27858113
TTC7A	Human	thioacetamide	decreases expression	ISO	Ttc7a (Rattus norvegicus)	6480464	Thioacetamide results in decreased expression of TTC7 mRNA and Thioacetamide results in decreased expression of TTC7A mRNA	CTD	PMID:23411599 and PMID:34492290
TTC7A	Human	thiram	increases expression	EXP		6480464	Thiram results in increased expression of TTC7A mRNA	CTD	PMID:38568856
TTC7A	Human	titanium dioxide	increases expression	ISO	Ttc7 (Mus musculus)	6480464	titanium dioxide results in increased expression of TTC7 mRNA	CTD	PMID:23557971
TTC7A	Human	titanium dioxide	increases methylation	ISO	Ttc7 (Mus musculus)	6480464	titanium dioxide results in increased methylation of TTC7 gene	CTD	PMID:35295148
TTC7A	Human	titanium dioxide	decreases expression	ISO	Ttc7 (Mus musculus)	6480464	titanium dioxide results in decreased expression of TTC7 mRNA	CTD	PMID:29264374
TTC7A	Human	triphenyl phosphate	increases expression	ISO	Ttc7a (Rattus norvegicus)	6480464	triphenyl phosphate results in increased expression of TTC7A mRNA	CTD	PMID:30589522
TTC7A	Human	triptonide	decreases expression	ISO	Ttc7 (Mus musculus)	6480464	triptonide results in decreased expression of TTC7 mRNA	CTD	PMID:33045310
TTC7A	Human	trovafloxacin	decreases expression	ISO	Ttc7a (Rattus norvegicus)	6480464	trovafloxacin results in decreased expression of TTC7A mRNA	CTD	PMID:24136188
TTC7A	Human	trovafloxacin	decreases expression	ISO	Ttc7 (Mus musculus)	6480464	trovafloxacin results in decreased expression of TTC7 mRNA	CTD	PMID:35537566
TTC7A	Human	valproic acid	affects expression	ISO	Ttc7 (Mus musculus)	6480464	Valproic Acid affects the expression of TTC7 mRNA	CTD	PMID:17963808

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)
TTC7A	Human	hemopoiesis	acts_upstream_of_or_within	IEA	UniProtKB:Q8BGB2 and ensembl:ENSMUSP00000040771	150520179		Ensembl	GO_REF:0000107
TTC7A	Human	intracellular iron ion homeostasis	acts_upstream_of_or_within	IEA	UniProtKB:Q8BGB2 and ensembl:ENSMUSP00000040771	150520179		Ensembl	GO_REF:0000107
TTC7A	Human	phosphatidylinositol phosphate biosynthetic process	involved_in	IBA	PANTHER:PTN001131908 and UniProtKB:Q86TV6	150520179		GO_Central	GO_REF:0000033
TTC7A	Human	protein localization to plasma membrane	involved_in	IDA		150520179	PMID:23229899	UniProt	PMID:23229899
TTC7A	Human	protein localization to plasma membrane	involved_in	IBA	PANTHER:PTN001131908 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)
TTC7A	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
TTC7A	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
TTC7A	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
TTC7A	Human	plasma membrane	is_active_in	IBA	PANTHER:PTN001131908 and UniProtKB:Q86TV6	150520179		GO_Central	GO_REF:0000033
TTC7A	Human	plasma membrane	located_in	IEA	UniProtKB-SubCell:SL-0039	150520179		UniProt	GO_REF:0000044
TTC7A	Human	plasma membrane	located_in	IEA	UniProtKB-KW:KW-1003	150520179		UniProt	GO_REF:0000043

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)
TTC7A	Human	protein binding	enables	IPI	UniProtKB:O95071	150520179	PMID:24417819 and PMID:33122718	IntAct	PMID:24417819 and PMID:33122718

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TTC7A	Human	Abdominal distention		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Abnormal ductus choledochus morphology		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Absent eyebrow		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Agammaglobulinemia		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Alopecia of scalp		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Autoimmune hemolytic anemia		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Autoimmune hemolytic anemia		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Autoimmunity		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Autoimmunity		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Bloody diarrhea		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Bloody diarrhea		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Colonic atresia		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Congenital onset		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Congenital pulmonary airway malformation		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Congenital pulmonary airway malformation		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Death in childhood		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Death in infancy		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Decreased circulating antibody concentration		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Duodenal atresia		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Duodenal stenosis		IAGP		8699517		HPO	ORPHA:2300
TTC7A	Human	Ectopic calcification		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Enamel hypoplasia		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Enterocolitis		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Gastrointestinal atresia		IAGP		8699517		HPO	ORPHA:2300
TTC7A	Human	Gastrointestinal atresia		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Hashimoto thyroiditis		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Hematochezia		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Hepatitis		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Hypertelorism		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Hypoplasia of the thymus		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Hypoplasia of the thymus		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Ileal atresia		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Immunodeficiency		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Impaired lymphocyte transformation with phytohemagglutinin		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Interface hepatitis		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Intestinal atresia		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Intestinal atresia		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Intestinal malrotation		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Intestinal malrotation		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Intestinal obstruction		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Intrauterine growth retardation		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Intrauterine growth retardation		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Jejunal atresia		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Jejunoileal ulceration		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Leukocytosis		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Lymphopenia		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Nail dystrophy		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Omphalocele		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Omphalocele		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Peritoneal abscess		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Polyhydramnios		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Polyhydramnios		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Polyhydramnios		IAGP		8699517		HPO	ORPHA:2300
TTC7A	Human	Prominent forehead		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Psoriasiform dermatitis		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Psoriasiform dermatitis		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Rectal abscess		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Rectal atresia		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Recurrent abscess formation		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Recurrent respiratory infections		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Severe combined immunodeficiency		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Severe combined immunodeficiency		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Sparse hair		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	T-cell lymphoma		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Thickened skin		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Thrombocytosis		IAGP		8699517		HPO	MIM:243150
TTC7A	Human	Type I diabetes mellitus		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Ventricular septal defect		IAGP		8699517		HPO	ORPHA:436252
TTC7A	Human	Ventricular septal defect		IAGP		8699517		HPO	MIM:243150

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TTC7A	Human	Severe combined immunodeficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Severe combined immunodeficiency	ClinVar

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
3.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
5.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

PMID:8889548	PMID:10574461	PMID:12168954	PMID:12477932	PMID:14702039	PMID:15489334	PMID:15718100	PMID:16344560	PMID:17081983	PMID:19898481	PMID:20339536	PMID:20932654
PMID:21873635	PMID:23229899	PMID:23423984	PMID:23830146	PMID:24162774	PMID:24292712	PMID:24417819	PMID:25174867	PMID:25468996	PMID:25745186	PMID:26496610	PMID:26760575
PMID:27059536	PMID:27418642	PMID:28514442	PMID:29117863	PMID:29174094	PMID:29884807	PMID:30350797	PMID:30553809	PMID:31753913	PMID:31814065	PMID:32513696	PMID:33122718
PMID:33637726	PMID:33961781	PMID:34315543	PMID:34373451	PMID:34975848	PMID:34985046	PMID:35063084	PMID:35271311	PMID:35474131	PMID:35944360	PMID:36897256	PMID:37390900

TTC7A
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	46,915,866 - 47,076,123 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	46,915,869 - 47,076,137 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	47,143,005 - 47,303,262 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	47,021,817 - 47,156,779 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	2	47,007,266 - 47,142,129 (+)	NCBI		Celera
Cytogenetic Map	2	p21	NCBI
HuRef	2	46,906,000 - 47,040,351 (+)	NCBI		HuRef
CHM1_1	2	47,098,597 - 47,233,491 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	2	46,920,640 - 47,080,920 (+)	NCBI		T2T-CHM13v2.0

Ttc7
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	17	87,590,328 - 87,689,197 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	17	87,590,314 - 87,689,197 (+)	Ensembl		GRCm39 Ensembl
GRCm38	17	87,282,808 - 87,381,770 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	17	87,282,886 - 87,381,769 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	17	87,682,226 - 87,781,110 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	17	87,191,212 - 87,290,084 (+)	NCBI		MGSCv36	mm8
Celera	17	91,677,067 - 91,778,687 (+)	NCBI		Celera
Cytogenetic Map	17	E4	NCBI
cM Map	17	57.12	NCBI

Ttc7a
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	6	12,912,822 - 13,015,374 (-)	NCBI		GRCr8
mRatBN7.2	6	7,159,285 - 7,261,826 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	6	7,159,061 - 7,261,892 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	6	7,439,527 - 7,542,905 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	6	7,748,955 - 7,852,331 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	6	7,276,069 - 7,379,452 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	6	10,912,383 - 11,014,279 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	6	10,912,383 - 11,014,278 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	6	20,900,225 - 21,009,356 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	6	10,787,530 - 10,895,027 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	6	10,778,700 - 10,893,371 (+)	NCBI
Celera	6	6,909,144 - 7,010,415 (-)	NCBI		Celera
Cytogenetic Map	6	q12	NCBI

Ttc7a
(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_004955441	13,793,216 - 13,916,423 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955441	13,804,791 - 13,915,969 (+)	NCBI	ChiLan1.0	ChiLan1.0

TTC7A
(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	12	79,315,262 - 79,473,978 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	2A	79,319,229 - 79,477,945 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	2A	47,031,859 - 47,190,995 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	2A	47,987,193 - 48,121,083 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	2A	47,963,094 - 48,121,083 (+)	Ensembl	panpan1.1		panPan2

TTC7A
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	10	49,102,256 - 49,246,663 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	10	49,129,584 - 49,314,495 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	10	48,955,524 - 49,100,316 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	10	49,972,255 - 50,117,119 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	10	49,972,346 - 50,116,956 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	10	49,680,225 - 49,823,222 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	10	49,970,061 - 50,112,811 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	10	50,153,848 - 50,298,738 (+)	NCBI		UU_Cfam_GSD_1.0

Ttc7a
(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_024406292	33,847,170 - 33,961,590 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936508	5,275,758 - 5,390,223 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936508	5,275,779 - 5,390,224 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TTC7A
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	3	93,457,625 - 93,591,941 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	3	93,457,623 - 93,591,982 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	3	99,602,173 - 99,646,143 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TTC7A
(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	14	60,117,116 - 60,271,937 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	14	60,118,750 - 60,250,167 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666045	51,572,062 - 51,729,472 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ttc7a
(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_004624738	28,355,121 - 28,472,733 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624738	28,355,161 - 28,472,733 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in TTC7A
1040 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	copy number gain	See cases [RCV000050445]	Chr21:7749532..46670405 [GRCh38] Chr21:15499847..48090317 [GRCh37] Chr21:14421718..46914745 [NCBI36] Chr21:21p11.2-q22.3	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1	copy number loss	See cases [RCV000051047]	Chr21:37135738..42434515 [GRCh38] Chr21:38508038..43854625 [GRCh37] Chr21:37429908..42727694 [NCBI36] Chr21:21q22.13-22.3	pathogenic
GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1	copy number loss	See cases [RCV000052807]	Chr21:35527952..44298520 [GRCh37] Chr21:34449822..43171589 [NCBI36] Chr21:21q22.1-22.3	pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]\|See cases [RCV000052836]	Chr21:35027972..46670405 [GRCh38] Chr21:36400269..48090317 [GRCh37] Chr21:35322139..46914745 [NCBI36] Chr21:21q22.12-22.3	pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]\|See cases [RCV000052838]	Chr21:38273492..46670405 [GRCh38] Chr21:39645414..48090317 [GRCh37] Chr21:38567284..46914745 [NCBI36] Chr21:21q22.13-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	copy number gain	See cases [RCV000053042]	Chr21:7749532..46623792 [GRCh38] Chr21:14595524..48043704 [GRCh37] Chr21:13517395..46868132 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	copy number gain	See cases [RCV000053043]	Chr21:7749532..46623792 [GRCh38] Chr21:14629063..48043704 [GRCh37] Chr21:13550934..46868132 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3	copy number gain	See cases [RCV000053045]	Chr21:7749532..46670546 [GRCh38] Chr21:15499647..48090458 [GRCh37] Chr21:14421518..46914886 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	copy number gain	See cases [RCV000053065]	Chr21:7749532..46661140 [GRCh38] Chr21:15499647..48081052 [GRCh37] Chr21:14421518..46905480 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	copy number gain	See cases [RCV000053067]	Chr21:7749532..46661140 [GRCh38] Chr21:15499847..48081052 [GRCh37] Chr21:14421718..46905480 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	copy number gain	See cases [RCV000053068]	Chr21:7749532..46670405 [GRCh38] Chr21:20655360..48090317 [GRCh37] Chr21:19577231..46914745 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	copy number gain	See cases [RCV000053069]	Chr21:7749532..46670405 [GRCh38] Chr21:34423268..48090317 [GRCh37] Chr21:33345138..46914745 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	copy number gain	See cases [RCV000053039]	Chr21:7749532..46623792 [GRCh38] Chr21:14524963..48043704 [GRCh37] Chr21:13446834..46868132 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	copy number gain	See cases [RCV000053040]	Chr21:7749532..46653090 [GRCh38] Chr21:14539679..48073002 [GRCh37] Chr21:13461550..46897430 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh37/hg19 21q22.13-22.2(chr21:37839410..41427526)	copy number loss	DYRK1A-related intellectual disability syndrome [RCV000190476]	Chr21:37839410..41427526 [GRCh37] Chr21:21q22.13-22.2	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	copy number gain	See cases [RCV000133676]	Chr21:7749532..42971047 [GRCh38] Chr21:15499847..44391157 [GRCh37] Chr21:14421718..43264226 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	copy number gain	See cases [RCV000134727]	Chr21:7749532..46653084 [GRCh38] Chr21:15485038..48072996 [GRCh37] Chr21:14406909..46897424 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	copy number gain	See cases [RCV000134509]	Chr21:7749532..46649831 [GRCh38] Chr21:14577835..48069743 [GRCh37] Chr21:13499706..46894171 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	copy number gain	See cases [RCV000134119]	Chr21:7749532..46670440 [GRCh38] Chr21:15485038..48090352 [GRCh37] Chr21:14406909..46914780 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	copy number gain	See cases [RCV000135310]	Chr21:7749532..46670346 [GRCh38] Chr21:34111831..48090258 [GRCh37] Chr21:33033702..46914686 [NCBI36] Chr21:21q22.11-22.3	pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	copy number gain	See cases [RCV000134972]	Chr21:36206067..46670405 [GRCh38] Chr21:37578365..48090317 [GRCh37] Chr21:36500235..46914745 [NCBI36] Chr21:21q22.12-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	copy number gain	See cases [RCV000134836]	Chr21:7749532..46664250 [GRCh38] Chr21:15485038..48084162 [GRCh37] Chr21:14406909..46908590 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	copy number gain	See cases [RCV000134842]	Chr21:7749532..46670440 [GRCh38] Chr21:15513244..48090352 [GRCh37] Chr21:14435115..46914780 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	copy number gain	See cases [RCV000135448]	Chr21:7749532..46660999 [GRCh38] Chr21:15499847..48080911 [GRCh37] Chr21:14421718..46905339 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q22.12-22.2(chr21:35543872-39993338)x1	copy number loss	See cases [RCV000135412]	Chr21:35543872..39993338 [GRCh38] Chr21:36916169..41365265 [GRCh37] Chr21:35838039..40287135 [NCBI36] Chr21:21q22.12-22.2	pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	copy number gain	See cases [RCV000136142]	Chr21:36519173..46670405 [GRCh38] Chr21:37891471..48090317 [GRCh37] Chr21:36813341..46914745 [NCBI36] Chr21:21q22.13-22.3	pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	copy number loss	See cases [RCV000136828]	Chr21:34789953..46636538 [GRCh38] Chr21:36162250..48056450 [GRCh37] Chr21:35084120..46880878 [NCBI36] Chr21:21q22.12-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	copy number gain	See cases [RCV000137337]	Chr21:7749532..46671060 [GRCh38] Chr21:10697897..48090972 [GRCh37] Chr21:1..46915400 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	copy number gain	See cases [RCV000137255]	Chr21:7749532..46671060 [GRCh38] Chr21:35319225..48090972 [GRCh37] Chr21:34241095..46915400 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	copy number gain	See cases [RCV000138216]	Chr21:7749532..46671060 [GRCh38] Chr21:10944001..48090972 [GRCh37] Chr21:9965872..46915400 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	copy number loss	See cases [RCV000138096]	Chr21:37669628..46671060 [GRCh38] Chr21:39041930..48090972 [GRCh37] Chr21:37963800..46915400 [NCBI36] Chr21:21q22.13-22.3	pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	copy number gain	See cases [RCV000138164]	Chr21:36066991..46671060 [GRCh38] Chr21:37439289..48090972 [GRCh37] Chr21:36361159..46915400 [NCBI36] Chr21:21q22.12-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	copy number gain	See cases [RCV000138436]	Chr21:7749532..46671060 [GRCh38] Chr21:15451032..48090972 [GRCh37] Chr21:14372903..46915400 [NCBI36] Chr21:21p11.2-q22.3	pathogenic\|conflicting data from submitters
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	copy number gain	See cases [RCV000140103]	Chr21:7749532..46670346 [GRCh38] Chr21:14577894..48090258 [GRCh37] Chr21:13499765..46914686 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	copy number gain	See cases [RCV000141346]	Chr21:7749532..46698247 [GRCh38] Chr21:14577835..48118159 [GRCh37] Chr21:13499706..46942587 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	copy number gain	See cases [RCV000141827]	Chr21:7749532..46677460 [GRCh38] Chr21:28285299..48097372 [GRCh37] Chr21:27207170..46921800 [NCBI36] Chr21:21q21.3-22.3	uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	copy number loss	See cases [RCV000142311]	Chr21:38816399..46677460 [GRCh38] Chr21:40188323..48097372 [GRCh37] Chr21:39110193..46921800 [NCBI36] Chr21:21q22.2-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	copy number loss	See cases [RCV000142427]	Chr21:7817158..46670440 [GRCh38] Chr21:15485038..48090352 [GRCh37] Chr21:14406909..46914780 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1	copy number loss	See cases [RCV000142650]	Chr21:39375937..44246148 [GRCh38] Chr21:40747863..45666031 [GRCh37] Chr21:39669733..44490459 [NCBI36] Chr21:21q22.2-22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	copy number gain	See cases [RCV000143376]	Chr21:7749532..46677460 [GRCh38] Chr21:15006458..48097372 [GRCh37] Chr21:13928329..46921800 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	copy number gain	See cases [RCV000143160]	Chr21:7749532..46677460 [GRCh38] Chr21:14386013..48097372 [GRCh37] Chr21:13307884..46921800 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	copy number gain	See cases [RCV000143120]	Chr21:7749532..46677460 [GRCh38] Chr21:15006457..48097372 [GRCh37] Chr21:13928328..46921800 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	copy number gain	See cases [RCV000148131]	Chr21:7749532..46670405 [GRCh38] Chr21:15499847..48090317 [GRCh37] Chr21:14421718..46914745 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	copy number loss	See cases [RCV000239948]	Chr21:15538655..48080926 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:39841248-44652723)x3	copy number gain	See cases [RCV000239953]	Chr21:39841248..44652723 [GRCh37] Chr21:21q22.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	copy number gain	See cases [RCV000240397]	Chr21:15410701..48090317 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.2(chr21:40802860-41301131)x3	copy number gain	See cases [RCV000240283]	Chr21:40802860..41301131 [GRCh37] Chr21:21q22.2	uncertain significance
GRCh37/hg19 21q22.13-22.2(chr21:38176362-41901945)x1	copy number loss	See cases [RCV000449183]	Chr21:38176362..41901945 [GRCh37] Chr21:21q22.13-22.2	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3	copy number gain	See cases [RCV000446716]	Chr21:15006457..43598570 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38790552-43619940)x1	copy number loss	See cases [RCV000446516]	Chr21:38790552..43619940 [GRCh37] Chr21:21q22.13-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	copy number gain	See cases [RCV000447884]	Chr21:14771770..48080867 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3	copy number gain	See cases [RCV000447729]	Chr21:15285841..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3	copy number gain	See cases [RCV000448199]	Chr21:15006457..44827632 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	copy number gain	See cases [RCV000447749]	Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1	copy number loss	See cases [RCV000510684]	Chr21:38699545..48097372 [GRCh37] Chr21:21q22.13-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	copy number gain	See cases [RCV000511589]	Chr21:15006458..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1	copy number loss	See cases [RCV000510798]	Chr21:37914123..48097372 [GRCh37] Chr21:21q22.13-22.3	pathogenic
GRCh37/hg19 21q22.12-22.2(chr21:36183329-42311538)x3	copy number gain	See cases [RCV000512585]	Chr21:36183329..42311538 [GRCh37] Chr21:21q22.12-22.2	likely pathogenic
GRCh37/hg19 21q22.11-22.2(chr21:33980213-42542987)x3	copy number gain	not provided [RCV000684166]	Chr21:33980213..42542987 [GRCh37] Chr21:21q22.11-22.2	pathogenic
GRCh37/hg19 21q22.2(chr21:40039202-41278694)x1	copy number loss	not provided [RCV000684157]	Chr21:40039202..41278694 [GRCh37] Chr21:21q22.2	uncertain significance
NC_000021.9:g.(?_38981673)_(41568791_?)del	deletion	Autism [RCV000754228]	Chr21:38981673..41568791 [GRCh38] Chr21:21q22.2-22.3	likely pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3	copy number gain	not provided [RCV000741419]	Chr21:10827533..48100155 [GRCh37] Chr21:21p11.2-q22.3	pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:40364245-44169928)x1	copy number loss	not provided [RCV000741567]	Chr21:40364245..44169928 [GRCh37] Chr21:21q22.2-22.3	pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3	copy number gain	not provided [RCV000741413]	Chr21:10699330..48117896 [GRCh37] Chr21:21p11.2-q22.3	pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3	copy number gain	not provided [RCV000741415]	Chr21:10704198..48117896 [GRCh37] Chr21:21p11.2-q22.3	pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3	copy number gain	not provided [RCV000741418]	Chr21:10824040..48090629 [GRCh37] Chr21:21p11.2-q22.3	pathogenic
GRCh37/hg19 21q22.2(chr21:40726882-41265009)x3	copy number gain	not provided [RCV000849872]	Chr21:40726882..41265009 [GRCh37] Chr21:21q22.2	uncertain significance
GRCh37/hg19 21q22.2(chr21:40726882-41265009)x3	copy number gain	not provided [RCV000849873]	Chr21:40726882..41265009 [GRCh37] Chr21:21q22.2	uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	copy number gain	not provided [RCV000846937]	Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.2(chr21:40067081-40841948)x3	copy number gain	not provided [RCV000848786]	Chr21:40067081..40841948 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.994G>C (p.Glu332Gln)	single nucleotide variant	not specified [RCV004316650]	Chr21:39411784 [GRCh38] Chr21:40783710 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.545A>G (p.His182Arg)	single nucleotide variant	not specified [RCV004292354]	Chr21:39423268 [GRCh38] Chr21:40795194 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.45C>A (p.Phe15Leu)	single nucleotide variant	not specified [RCV004289331]	Chr21:39428449 [GRCh38] Chr21:40800375 [GRCh37] Chr21:21q22.2	uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	copy number gain	Down syndrome [RCV002284306]	Chr21:14420615..48080926 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:39410438-45171756)x1	copy number loss	not provided [RCV001007132]	Chr21:39410438..45171756 [GRCh37] Chr21:21q22.13-22.3	pathogenic
GRCh37/hg19 21q22.13-22.2(chr21:39270345-41091831)x1	copy number loss	not provided [RCV001259411]	Chr21:39270345..41091831 [GRCh37] Chr21:21q22.13-22.2	uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	copy number gain	See cases [RCV001263025]	Chr21:14629063..48090317 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	copy number gain	See cases [RCV001780078]	Chr21:1..48129895 [GRCh37] Chr21:21p13-q22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	copy number gain	not specified [RCV002052724]	Chr21:15041209..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	copy number gain	not specified [RCV002052725]	Chr21:15285841..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.2(chr21:39892114-40905632)x1	copy number loss	not provided [RCV001836600]	Chr21:39892114..40905632 [GRCh37] Chr21:21q22.2	uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	copy number gain	not provided [RCV001829203]	Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)	copy number gain	not specified [RCV002052723]	Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.2(chr21:40219284-41569839)x3	copy number gain	not provided [RCV002472434]	Chr21:40219284..41569839 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.38A>C (p.Glu13Ala)	single nucleotide variant	not specified [RCV004117348]	Chr21:39428456 [GRCh38] Chr21:40800382 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1202A>G (p.Lys401Arg)	single nucleotide variant	not specified [RCV004187174]	Chr21:39410059 [GRCh38] Chr21:40781985 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1936G>A (p.Gly646Arg)	single nucleotide variant	not specified [RCV004111175]	Chr21:39405959 [GRCh38] Chr21:40777885 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.632G>C (p.Arg211Thr)	single nucleotide variant	not specified [RCV004188355]	Chr21:39423181 [GRCh38] Chr21:40795107 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1151C>G (p.Pro384Arg)	single nucleotide variant	not specified [RCV004182143]	Chr21:39410277 [GRCh38] Chr21:40782203 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.784C>G (p.His262Asp)	single nucleotide variant	not specified [RCV004084370]	Chr21:39423029 [GRCh38] Chr21:40794955 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1193A>C (p.His398Pro)	single nucleotide variant	not specified [RCV004245495]	Chr21:39410068 [GRCh38] Chr21:40781994 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.118C>T (p.Arg40Trp)	single nucleotide variant	not specified [RCV004163095]	Chr21:39428376 [GRCh38] Chr21:40800302 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.764C>G (p.Ala255Gly)	single nucleotide variant	not specified [RCV004102664]	Chr21:39423049 [GRCh38] Chr21:40794975 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1796T>C (p.Met599Thr)	single nucleotide variant	not specified [RCV004201028]	Chr21:39406099 [GRCh38] Chr21:40778025 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1337G>C (p.Gly446Ala)	single nucleotide variant	not specified [RCV004199445]	Chr21:39406558 [GRCh38] Chr21:40778484 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1502G>C (p.Gly501Ala)	single nucleotide variant	not specified [RCV004224102]	Chr21:39406393 [GRCh38] Chr21:40778319 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1470A>C (p.Arg490Ser)	single nucleotide variant	not specified [RCV004167087]	Chr21:39406425 [GRCh38] Chr21:40778351 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1985C>T (p.Thr662Ile)	single nucleotide variant	not specified [RCV004169762]	Chr21:39405910 [GRCh38] Chr21:40777836 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1541C>T (p.Thr514Met)	single nucleotide variant	not specified [RCV004180561]	Chr21:39406354 [GRCh38] Chr21:40778280 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.957C>A (p.His319Gln)	single nucleotide variant	not specified [RCV004174019]	Chr21:39420724 [GRCh38] Chr21:40792650 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.425G>A (p.Arg142Gln)	single nucleotide variant	not specified [RCV004086518]	Chr21:39423388 [GRCh38] Chr21:40795314 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1882A>G (p.Ser628Gly)	single nucleotide variant	not specified [RCV004260119]	Chr21:39406013 [GRCh38] Chr21:40777939 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1175C>T (p.Ala392Val)	single nucleotide variant	not specified [RCV004280150]	Chr21:39410086 [GRCh38] Chr21:40782012 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.974A>T (p.Lys325Met)	single nucleotide variant	not specified [RCV004277205]	Chr21:39420707 [GRCh38] Chr21:40792633 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1174G>A (p.Ala392Thr)	single nucleotide variant	not specified [RCV004280149]	Chr21:39410087 [GRCh38] Chr21:40782013 [GRCh37] Chr21:21q22.2	likely benign
NM_152505.4(LCA5L):c.274G>C (p.Glu92Gln)	single nucleotide variant	not specified [RCV004325788]	Chr21:39428220 [GRCh38] Chr21:40800146 [GRCh37] Chr21:21q22.2	uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	copy number loss	not provided [RCV003483381]	Chr21:40681179..48097372 [GRCh37] Chr21:21q22.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	copy number gain	not provided [RCV003485218]	Chr21:15006458..45674637 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	copy number gain	not provided [RCV003485222]	Chr21:33015681..48097372 [GRCh37] Chr21:21q22.11-22.3	pathogenic
NM_152505.4(LCA5L):c.1722T>C (p.Tyr574=)	single nucleotide variant	not provided [RCV003431500]	Chr21:39406173 [GRCh38] Chr21:40778099 [GRCh37] Chr21:21q22.2	likely benign
NM_152505.4(LCA5L):c.1536C>G (p.Pro512=)	single nucleotide variant	not provided [RCV003431501]	Chr21:39406359 [GRCh38] Chr21:40778285 [GRCh37] Chr21:21q22.2	likely benign
NM_152505.4(LCA5L):c.1863C>G (p.Gly621=)	single nucleotide variant	not provided [RCV003431499]	Chr21:39406032 [GRCh38] Chr21:40777958 [GRCh37] Chr21:21q22.2	likely benign
GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	copy number gain	not specified [RCV003986158]	Chr21:34092685..48097372 [GRCh37] Chr21:21q22.11-22.3	pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	copy number gain	not specified [RCV003986152]	Chr21:26929299..48097372 [GRCh37] Chr21:21q21.3-22.3	pathogenic
GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	copy number loss	not specified [RCV003986157]	Chr21:35872675..48097372 [GRCh37] Chr21:21q22.12-22.3	pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	copy number gain	not specified [RCV003986149]	Chr21:30685776..48097372 [GRCh37] Chr21:21q21.3-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	copy number gain	not specified [RCV003986160]	Chr21:15023401..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	copy number gain	not provided [RCV004577449]	Chr21:15380398..48100790 [GRCh37] Chr21:21q11.2-22.3	pathogenic
NM_152505.4(LCA5L):c.101G>A (p.Gly34Asp)	single nucleotide variant	not specified [RCV004410325]	Chr21:39428393 [GRCh38] Chr21:40800319 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1258G>A (p.Glu420Lys)	single nucleotide variant	not specified [RCV004410326]	Chr21:39410003 [GRCh38] Chr21:40781929 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1585G>C (p.Ala529Pro)	single nucleotide variant	not specified [RCV004410327]	Chr21:39406310 [GRCh38] Chr21:40778236 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.160T>G (p.Ser54Ala)	single nucleotide variant	not specified [RCV004410328]	Chr21:39428334 [GRCh38] Chr21:40800260 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.290A>G (p.Lys97Arg)	single nucleotide variant	not specified [RCV004410329]	Chr21:39428204 [GRCh38] Chr21:40800130 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.293A>G (p.Tyr98Cys)	single nucleotide variant	not specified [RCV004410330]	Chr21:39428201 [GRCh38] Chr21:40800127 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.198T>G (p.Asp66Glu)	single nucleotide variant	not specified [RCV004633895]	Chr21:39428296 [GRCh38] Chr21:40800222 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1124A>G (p.Gln375Arg)	single nucleotide variant	not specified [RCV004642151]	Chr21:39410304 [GRCh38] Chr21:40782230 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.743T>C (p.Leu248Pro)	single nucleotide variant	not specified [RCV004642152]	Chr21:39423070 [GRCh38] Chr21:40794996 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1136A>C (p.Lys379Thr)	single nucleotide variant	not specified [RCV004939879]	Chr21:39410292 [GRCh38] Chr21:40782218 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1717G>A (p.Gly573Arg)	single nucleotide variant	not specified [RCV004939881]	Chr21:39406178 [GRCh38] Chr21:40778104 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1055C>G (p.Pro352Arg)	single nucleotide variant	not specified [RCV004939883]	Chr21:39411723 [GRCh38] Chr21:40783649 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.52G>A (p.Val18Met)	single nucleotide variant	not specified [RCV004939878]	Chr21:39428442 [GRCh38] Chr21:40800368 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1928A>G (p.His643Arg)	single nucleotide variant	not specified [RCV004939882]	Chr21:39405967 [GRCh38] Chr21:40777893 [GRCh37] Chr21:21q22.2	uncertain significance
GRCh37/hg19 21q22.11-22.3(chr21:34586759-48097372)x3	copy number gain	not provided [RCV004819321]	Chr21:34586759..48097372 [GRCh37] Chr21:21q22.11-22.3	pathogenic
NM_152505.4(LCA5L):c.625A>C (p.Asn209His)	single nucleotide variant	not specified [RCV004939885]	Chr21:39423188 [GRCh38] Chr21:40795114 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1823T>A (p.Val608Asp)	single nucleotide variant	not specified [RCV004939880]	Chr21:39406072 [GRCh38] Chr21:40777998 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1502G>T (p.Gly501Val)	single nucleotide variant	not specified [RCV004934862]	Chr21:39406393 [GRCh38] Chr21:40778319 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1976C>T (p.Ser659Leu)	single nucleotide variant	not specified [RCV004934863]	Chr21:39405919 [GRCh38] Chr21:40777845 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.955C>T (p.His319Tyr)	single nucleotide variant	not specified [RCV004412403]	Chr21:39420726 [GRCh38] Chr21:40792652 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.1630G>A (p.Ala544Thr)	single nucleotide variant	not specified [RCV004329590]	Chr21:39406265 [GRCh38] Chr21:40778191 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.676A>T (p.Arg226Trp)	single nucleotide variant	not specified [RCV004410331]	Chr21:39423137 [GRCh38] Chr21:40795063 [GRCh37] Chr21:21q22.2	uncertain significance
NM_152505.4(LCA5L):c.806C>T (p.Thr269Ile)	single nucleotide variant	not specified [RCV004410332]	Chr21:39423007 [GRCh38] Chr21:40794933 [GRCh37] Chr21:21q22.2	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	8260
Count of miRNA genes:	1249
Interacting mature miRNAs:	1646
Transcripts:	ENST00000263737, ENST00000319190, ENST00000394850, ENST00000409245, ENST00000409825, ENST00000440051, ENST00000441914, ENST00000461601, ENST00000474321, ENST00000484061, ENST00000484337, ENST00000491786, ENST00000496991, ENST00000536057
Prediction methods:	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
407048419	GWAS697395_H	response to statin QTL GWAS697395 (human)		0.000002	response to statin		2	47002700	47002701	Human
597115126	GWAS1211200_H	mean reticulocyte volume QTL GWAS1211200 (human)		2e-08	reticulocyte morphology trait (VT:0002424)	mean corpuscular volume (CMO:0000038)	2	47011391	47011392	Human
597578426	GWAS1635286_H	prothrombin time measurement QTL GWAS1635286 (human)		4e-11	blood coagulation trait (VT:0002551)	prothrombin time (CMO:0000211)	2	46922519	46922520	Human
407027815	GWAS676791_H	response to radiation, prostate carcinoma, erectile dysfunction QTL GWAS676791 (human)		0.0000005	response to radiation, prostate carcinoma, erectile dysfunction		2	47012873	47012874	Human
597599414	GWAS1656274_H	prothrombin time measurement QTL GWAS1656274 (human)		4e-12	blood coagulation trait (VT:0002551)	prothrombin time (CMO:0000211)	2	46925152	46925153	Human
597094495	GWAS1190569_H	3-hydroxy-1-methylpropylmercapturic acid measurement QTL GWAS1190569 (human)		0.0000005	3-hydroxy-1-methylpropylmercapturic acid measurement		2	47009297	47009298	Human
597521489	GWAS1617563_H	body fat percentage QTL GWAS1617563 (human)		4e-09	body fat mass (VT:0010482)	body fat percentage (CMO:0000302)	2	47056363	47056364	Human
597578963	GWAS1635823_H	prothrombin time measurement QTL GWAS1635823 (human)		1e-11	blood coagulation trait (VT:0002551)	prothrombin time (CMO:0000211)	2	46925152	46925153	Human
597279732	GWAS1375806_H	educational attainment QTL GWAS1375806 (human)		9e-11	educational attainment		2	47007798	47007799	Human
597244116	GWAS1340190_H	progression free survival, response to carboplatin, ovarian serous carcinoma, trait in response to paclitaxel QTL GWAS1340190 (human)		0.000004	progression free survival, response to carboplatin, ovarian serous carcinoma, trait in response to paclitaxel	survival measurement (CMO:0001021)	2	47011089	47011090	Human
596986264	GWAS1105783_H	bone density QTL GWAS1105783 (human)		1e-08	bone density		2	47067926	47067927	Human
597599088	GWAS1655948_H	prothrombin time measurement QTL GWAS1655948 (human)		2e-11	blood coagulation trait (VT:0002551)	platelet count (CMO:0000029)	2	46925152	46925153	Human
597023387	GWAS1119461_H	initial pursuit acceleration QTL GWAS1119461 (human)		0.000005	initial pursuit acceleration		2	47041559	47041560	Human
597232662	GWAS1328736_H	appendicular lean mass QTL GWAS1328736 (human)		1e-15	appendicular lean mass		2	47056418	47056419	Human
597302666	GWAS1398740_H	platelet count QTL GWAS1398740 (human)		2e-11	platelet count		2	46925152	46925153	Human
597166856	GWAS1262930_H	alkaline phosphatase measurement QTL GWAS1262930 (human)		1e-09	alkaline phosphatase measurement	blood alkaline phosphatase activity level (CMO:0000576)	2	47004535	47004536	Human
597163267	GWAS1259341_H	urate measurement QTL GWAS1259341 (human)		0.000007	urate measurement	blood uric acid level (CMO:0000501)	2	47061040	47061041	Human
597390988	GWAS1487062_H	appendicular lean mass QTL GWAS1487062 (human)		2e-10	appendicular lean mass		2	47063398	47063399	Human
597439046	GWAS1535120_H	BMI-adjusted hip circumference QTL GWAS1535120 (human)		0.000004	BMI-adjusted hip circumference	hip circumference (CMO:0000014)	2	46928460	46928461	Human
596986255	GWAS1105774_H	bone density QTL GWAS1105774 (human)		2e-08	bone density		2	47067926	47067927	Human
597021769	GWAS1117843_H	interleukin 17 measurement QTL GWAS1117843 (human)		0.000008	blood interleukin-17 amount (VT:0008613)		2	46920235	46920236	Human
597255110	GWAS1351184_H	alkaline phosphatase measurement QTL GWAS1351184 (human)		2e-09	alkaline phosphatase measurement	blood alkaline phosphatase activity level (CMO:0000576)	2	46998752	46998753	Human

D2S2227

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	47,269,702 - 47,269,910	UniSTS	GRCh37
Build 36	2	47,123,206 - 47,123,414	RGD	NCBI36
Celera	2	47,108,562 - 47,108,770	RGD
Cytogenetic Map	2	p21	UniSTS
HuRef	2	47,006,780 - 47,006,988	UniSTS
Marshfield Genetic Map	2	71.14	RGD
Marshfield Genetic Map	2	71.14	UniSTS
Genethon Genetic Map	2	74.6	UniSTS
TNG Radiation Hybrid Map	2	10758.0	UniSTS
Whitehead-YAC Contig Map	2		UniSTS

RH69939

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	148,978,115 - 148,978,240	UniSTS	GRCh37
GRCh37	2	47,302,528 - 47,302,653	UniSTS	GRCh37
Build 36	2	47,156,032 - 47,156,157	RGD	NCBI36
Celera	5	145,060,032 - 145,060,157	UniSTS
Celera	2	47,141,382 - 47,141,507	RGD
Cytogenetic Map	5	q32	UniSTS
Cytogenetic Map	2	p21	UniSTS
HuRef	5	144,124,751 - 144,124,876	UniSTS
HuRef	2	47,039,604 - 47,039,729	UniSTS

RH93668

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	47,303,044 - 47,303,166	UniSTS	GRCh37
Build 36	2	47,156,548 - 47,156,670	RGD	NCBI36
Celera	2	47,141,898 - 47,142,020	RGD
Cytogenetic Map	2	p21	UniSTS
HuRef	2	47,040,120 - 47,040,242	UniSTS
GeneMap99-GB4 RH Map	2	140.45	UniSTS

SHGC-79084

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	47,282,511 - 47,282,709	UniSTS	GRCh37
Build 36	2	47,136,015 - 47,136,213	RGD	NCBI36
Celera	2	47,121,371 - 47,121,569	RGD
Cytogenetic Map	2	p21	UniSTS
HuRef	2	47,019,587 - 47,019,785	UniSTS
TNG Radiation Hybrid Map	2	10763.0	UniSTS

RH102114

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	47,278,055 - 47,278,179	UniSTS	GRCh37
Build 36	2	47,131,559 - 47,131,683	RGD	NCBI36
Celera	2	47,116,915 - 47,117,039	RGD
Cytogenetic Map	2	p21	UniSTS
HuRef	2	47,015,133 - 47,015,257	UniSTS
GeneMap99-GB4 RH Map	2	142.44	UniSTS

SHGC-78032

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	47,296,758 - 47,297,080	UniSTS	GRCh37
Build 36	2	47,150,262 - 47,150,584	RGD	NCBI36
Celera	2	47,135,611 - 47,135,933	RGD
Cytogenetic Map	2	p21	UniSTS
HuRef	2	47,033,833 - 47,034,155	UniSTS

RH15945

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	47,295,753 - 47,295,927	UniSTS	GRCh37
Build 36	2	47,149,257 - 47,149,431	RGD	NCBI36
Celera	2	47,134,614 - 47,134,788	RGD
Cytogenetic Map	2	p21	UniSTS
HuRef	2	47,032,829 - 47,033,003	UniSTS
GeneMap99-GB4 RH Map	2	142.44	UniSTS
NCBI RH Map	2	291.6	UniSTS

Clen32

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	47,214,912 - 47,215,125	UniSTS	GRCh37
Celera	2	47,053,774 - 47,053,987	UniSTS
HuRef	2	46,952,109 - 46,952,322	UniSTS

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

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
1204	2433	2788	2245	4947	1723	2346	5	622	1949	464	2268	7286	6457	52	3713	848	1734	1613	171


RefSeq Transcripts	NG_034143	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001288951	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001288953	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001288955	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_020458	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005264439	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011532998	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011532999	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011533000	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011533001	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017004524	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017004525	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017004526	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017004529	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024453013	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047445145	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047445146	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047445147	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047445148	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047445149	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047445150	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054343089	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054343090	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054343091	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054343092	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054343093	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054343094	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054343095	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054343096	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054343097	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054343098	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054343099	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054343100	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054343101	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001738853	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001738854	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_007078570	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008486460	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA504156	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB032966	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC016722	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC073283	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC093732	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI694289	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK056464	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL117512	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL834383	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC001978	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC027457	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC035708	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC065554	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC082965	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC111487	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC114365	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM683111	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471053	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA379361	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000319190 ⟹ ENSP00000316699

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	46,941,224 - 47,076,123 (+)	Ensembl

Ensembl Acc Id:

ENST00000394850 ⟹ ENSP00000378320

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	46,941,286 - 47,075,324 (+)	Ensembl

Ensembl Acc Id:

ENST00000409245 ⟹ ENSP00000386307

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	46,916,157 - 47,074,048 (+)	Ensembl

Ensembl Acc Id:

ENST00000409825 ⟹ ENSP00000386521

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	46,950,421 - 47,076,137 (+)	Ensembl

Ensembl Acc Id:

ENST00000440051 ⟹ ENSP00000401467

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	47,005,932 - 47,049,980 (+)	Ensembl

Ensembl Acc Id:

ENST00000441914 ⟹ ENSP00000393022

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	46,941,543 - 47,073,923 (+)	Ensembl

Ensembl Acc Id:

ENST00000461601

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	46,941,275 - 47,050,025 (+)	Ensembl

Ensembl Acc Id:

ENST00000474321

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	46,978,118 - 47,005,994 (+)	Ensembl

Ensembl Acc Id:

ENST00000484061

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	46,994,231 - 47,075,324 (+)	Ensembl

Ensembl Acc Id:

ENST00000484337

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	47,034,155 - 47,060,956 (+)	Ensembl

Ensembl Acc Id:

ENST00000491786

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	46,978,740 - 47,075,557 (+)	Ensembl

Ensembl Acc Id:

ENST00000496991

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	47,046,315 - 47,050,827 (+)	Ensembl

Ensembl Acc Id:

ENST00000651101

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	47,008,545 - 47,076,106 (+)	Ensembl

Ensembl Acc Id:

ENST00000651415

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	47,008,702 - 47,076,112 (+)	Ensembl

Ensembl Acc Id:

ENST00000652236

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	47,007,004 - 47,075,432 (+)	Ensembl

Ensembl Acc Id:

ENST00000652568

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	47,008,702 - 47,075,537 (+)	Ensembl

Ensembl Acc Id:

ENST00000698499

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	46,915,869 - 46,920,222 (+)	Ensembl

Ensembl Acc Id:

ENST00000698500

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	46,915,869 - 47,076,100 (+)	Ensembl

Ensembl Acc Id:

ENST00000698501

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	46,916,167 - 46,951,210 (+)	Ensembl

Ensembl Acc Id:

ENST00000698502

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	46,916,413 - 46,950,969 (+)	Ensembl

Ensembl Acc Id:

ENST00000698503

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	47,027,577 - 47,076,106 (+)	Ensembl

Ensembl Acc Id:

ENST00000698504

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	47,029,314 - 47,073,796 (+)	Ensembl

RefSeq Acc Id:

NM_001288951 ⟹ NP_001275880

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	46,941,224 - 47,076,123 (+)	NCBI
HuRef	2	46,880,523 - 47,040,351 (+)	NCBI
CHM1_1	2	47,098,597 - 47,233,491 (+)	NCBI
T2T-CHM13v2.0	2	46,946,000 - 47,080,920 (+)	NCBI

Sequence:

show sequence

GTGGCAGCAGCTGCAGCGGCGGCGGCGGCGGCAGCGCCAGGAGCTGCTACAGCAGAGGCGGAGGTTGCTCCTGTACGCGTACGGGCCGCTCGGCCGGAGCCGCAGCCCGGAGGCGCCGGGCGGTGCGC
TGGGAGCTGCTGGTGCTGCTGCTGCTGCTGCTGCCCACCCTCCGCCGCCCGGGCCCCCGCTGCCGCCCGGGCCCCGGCTGCCGTCTGCGCCCCCGTCGACCCCGCCCGCGAGTGCGCCCCAGCCAGGA
CGCCGCCCCCGGCCGGGTCTCCACTTCTTGGCCGCACCTTCCATGACAGCGCCCGCGAGAAGATGGCTGCGAAGGGCGCGCACGGCTCCTACCTGAAGGTGGAGAGCGAGCTGGAGCGCTGCCGCGCC
GAGGGCCACTGGGACCGCATGCCGGAGCTGGTCCGGCAGCTGCAGACGCTGAGCATGCCCGGCGGCGGAGGTAACAGGCGAGGCAGCCCGAGCGCAGCGTTCACCTTTCCGGACACCGATGACTTTGG
GAAATTGCTGCTGGCTGAGGCCCTCCTGGAGCAGTGTTTGAAGGAGAACCATGCCAAAATAAAAGACTCCATGCCTTTGCTGGAGAAGAATGAGCCGAAGATGAGCGAAGCCAAAAATTATCTAAGCA
GTATCCTTAACCATGGGAGGCTCTCGCCACAGTACATGTGTGAGGCCATGCTGATCCTGGGCAAACTGCATTACGTGGAGGGCTCATACCGAGATGCCATCAGCATGTACGCACGGGCCGGGATTGAT
GACATGTCCATGGAGAACAAGCCCCTGTATCAGATGCGGCTGCTGTCGGAGGCTTTTGTCATCAAAGGCCTCTCTCTGGAACGCCTACCCAACTCCATCGCCTCCCGCTTCCGCCTGACAGAGAGGGA
GGAGGAAGTGATCACCTGTTTTGAGAGGGCCTCCTGGATCGCTCAGGTGTTCCTGCAGGAATTGGAGAAGACCACAAATAACAGCACGTCGAGGCATCTGAAAGGCTGTCACCCGCTTGACTATGAGC
TCACCTACTTCCTGGAAGCTGCCCTCCAGAGCGCCTATGTGAAAAACCTGAAGAAGGGGAACATCGTGAAGGGCATGAGAGAGCTCCGGGAGGTGCTGCGGACTGTGGAGACCAAAGCAACTCAGAAC
TTCAAAGTGATGGCGGCCAAGCACCTGGCGGGGGTCCTGCTGCACTCCCTGAGTGAGGAGTGCTACTGGAGCCCCCTGTCCCACCCTCTGCCTGAGTTCATGGGCAAGGAGGAGAGTTCTTTCGCCAC
TCAGGCCCTGCGGAAACCTCACCTCTATGAAGGAGACAACCTCTACTGCCCCAAGGACAACATCGAGGAAGCCCTCCTGCTCCTCCTCATCAGCGAATCCATGGCAACTCGAGATGTGGTGCTGAGCC
GGGTGCCGGAGCAGGAGGAGGACCGGACAGTGAGCTTGCAGAATGCCGCAGCCATCTATGACCTCCTGAGCATCACGTTGGGCAGAAGGGGACAGTACGTCATGCTCTCGGAGTGCCTGGAGCGAGCC
ATGAAGTTTGCGTTTGGAGAATTTCACCTTTGGTACCAGGTGGCCCTCTCCATGGTGGCTTGTGGGAAGTCAGCCTACGCTGTGTCCCTGCTGCGGGAGTGTGTGAAGTTGCGGCCCTCGGACCCCAC
CGTGCCCCTGATGGCCGCGAAGGTCTGCATCGGGTCCCTTCGCTGGCTAGAGGAAGCAGAGCACTTTGCCATGATGGTGATCAGCCTCGGAGAGGAAGCCGGGGAGTTCCTCCCCAAGGGCTACCTGG
CTCTGGGTCTCACCTATAGCCTGCAGGCCACCGACGCCACCCTGAAGTCCAAGCAAGATGAATTGCACCGGAAGGCACTGCAGACGCTGGAGAGGGCTCAGCAGCTGGCGCCCAGTGACCCCCAGGTC
ATCCTCTATGTCTCGCTGCAGCTGGCCCTCGTCCGACAGATCTCCAGTGCCATGGAGCAGCTGCAGGAGGCCCTGAAGGTACGCAAGGATGATGCCCACGCCCTCCACCTGCTGGCACTGCTCTTCTC
TGCCCAGAAGCACCACCAGCATGCCCTGGATGTTGTCAACATGGCCATCACCGAGCACCCTGAGAACTTCAACCTGATGTTCACCAAGGTGAAGCTGGAGCAGGTGCTGAAAGGCCCAGAGGAAGCCC
TCGTGACCTGCAGACAAGTGCTGAGGCTGTGGCAGACCCTGTACAGCTTCTCCCAGCTGGGAGACTTTAGGAGCCCAGAAGGCTTCCAGACTCCCCAGAGGAACATCTGTAACAGTGAAATTTACAGA
GGAGGAGGCCTAGAAAAGGATGGCAGCTTCGGTGAGGGCCTCACCATGAAGAAGCAGAGTGGCATGCACCTGACTTTGCCTGATGCCCATGATGCAGACTCTGGCTCCCGGCGGGCTTCGTCCATCGC
CGCCTCCCGGCTGGAGGAGGCCATGTCAGAGCTGACTATGCCCTCTTCGGTCCTGAAGCAGGGCCCCATGCAGCTGTGGACCACGCTGGAACAGATCTGGCTGCAGGCTGCTGAGCTGTTCATGGAGC
AGCAGCACCTCAAGGAAGCAGGTTTCTGCATCCAGGAGGCGGCGGGCCTCTTCCCCACTTCTCACTCAGTACTCTATATGCGGGGCCGGCTGGCTGAGGTGAAGGGCAACCTGGAGGAGGCCAAGCAG
CTGTACAAGGAGGCGCTCACGGTGAACCCAGATGGCGTGCGCATCATGCATAGCCTGGGTCTGATGCTGAGTCGGCTGGGCCACAAGAGCTTGGCCCAGAAGGTGCTTCGTGATGCCGTGGAGAGGCA
GAGTACGTGCCACGAGGCGTGGCAGGGCCTGGGCGAGGTGCTGCAGGCCCAGGGCCAGAACGAGGCTGCCGTTGACTGCTTCCTCACCGCCCTTGAGCTGGAGGCCAGCAGCCCTGTACTGCCCTTCT
CCATCATCCCCAGAGAGCTCTGACGACGCTGCAGCCGCAGGGAGGGAGGGGCTGGCCAGAGGGAGAGGCAGCAGGGAACGTGGGTCAGGGTGGGGCAACAGTGGCATCAGGTGCGGGGCCTCAGGGAA
ATACATCTTTAGTGAACGCCTCTGCAGCTGCAGCCCTCGTTCTCTTGGCTGGGCCAAGAGGGCCTTCCTGGATTTCTTTGTTGGTGCCTTGGGAAACAGTCTGACTTGAACCCTAAGTGCCTTTGGAG
AGTTTTGTGGTGACCAGACTTGCTCCCCAAGAGCTGGGCAGCGGGGAGCCTCACAGCTGTCCTTCACCCTCACCCATGCCTCTGGCTTGGAGTCTGGGTGGGGGGTTCTCACTCCCCACTCTCAGCAC
AGTACAGACTTCTGGATCTCTCTCAGGTCTTGCCCAGGGCGGTCACAATGTGAAGAAACTGCGGGCAAGTGGGAAGACTATGAGATTTCTGGGTTCCCTTCTCAGACTTGGAGTTAGTAGATGATTCC
TGCATTGCCCCTGCTTGCCCTCTGAGACCAGCTGGGCCCCACCTTGCTCTTTCCCCCTGCTACCAAGTGCCTTTGGGGTCTGACCAGGGGTACTGAGCACCGGCCCTAACACTTCCATCTCCACCCAC
CCCATCTCCCTGGCGATGTGCTCCAGCCCAAGCAGCCTCCGTAGGCTTTAGATCCTGTGGTTGCTAGATCCAGTCCTTTCTAATACCCTGAGTCAACACATTACTCCTGCAGGTCTTAGGCTACAATG
CAGGTCCCTTGAGGGCCACCAACATGGAGGTAGGCAGTTTCTAGGACTGTCCCCAGTACATCTCACCACCCACAGCCCTTTTTTTGCCTTGATTCGAGCCTCACCCTGGCCTTTTGGCTTCCCCTGCC
TGAGAGAGACCTGAGGAGGGGACAGAGCCCAGCCCCTCTCCTGTGGCTGAGCAGGCCTCTGTGTCCATGACACCTGTCTTCCGGGCCTGGGGGCTGTGGGTGTATGTCCTCCCTACTGGCTTCCCCGG
CCCCTGCTGCATGATGCTCTTGGAACTCTTCTCCAAGGAGTCAGTCCCCCAGGCCTATCAGGGGATCCTTTTGTATCTGCACTTTGGGTTTTAGTTTCAAAGCTCCATCAGGTACAGCTTGCATTTCA
GGATGTGTGGAAAGCTCGGGTGAGGGCTGCCCTGGTTCATCATAGCTCCACCTTCCTCGGAAGGAGTGGGCTGTTGGAGACCCCCCATCCATGGCACACTAGCTCAGCACTGCATTTCCCGAGATGAT
TCCCAAGACAGCTGGTGCCTCCTGGCTTTCCTGTGCCAGGCCAAGGGGCACCACAGAGGACCCTGGATCCTTTGCCTCTTCTTGGTTGAAGGATCTCTATGTATGTGTGTATATAAATATAGTTTTTT
ATCTATATATATAAAATAGAGATCTATTTTTTTTCTGGAATTCTGTTAGAAAAGTAAAGAAAAAGCAAATGCTGTTGGTTTATCTCAGGGTGCCCAAAGTGGTTATAGTCAATTTTTGGTACTAGGAA
AGGCACCCAATGCATTTCCTGACTTTTAAGCATTTCCTTGTTGGAAGCAGCAGAGGGCCAGGCCAAGTTGCTGACAGTGACTTTGCAGGTTGAATAAAGAAACCCTTGGAGGGGAAGCAGGCTTGTCT
GAAGCAGCATGTATATTCACTGGGCATGTAGCTCCCACACCAGCCTTGAGCCAGGCCCTGGACAGGAGGGGCTGTTGCAGGATGAGGGAGGCCAGAGAAGGCATCGAAGCCAAGACCTGGGCCCACCT
GGGGAGGGATGTGGGAAAGGAAGGATGGGAGGGAGGACCCTCTGGGAAAATGTGGATTTGAGCTGGTGAGAGTGTTGCTAAGGCTGGGCTAAAGCCTGGAGAGGGTAGGAGGAGGCAAGAGGGGTCCA
GGCAGGGCTGATCCTGGCCTCTGACCTGTCCAGGGCGACCCCTGAAGCCCCTGCTGCCTCTGGGCATTGCTGGGAGAGGCCAAGGCAGGACTCACGTCTGAACAGAGATCCCCTCGGGCATTGCTGAT
GGGCCACCTTCAGCTGCAGGGAAGAAGCCTAGGAGAGGAGGCATGGGAGGGACCTGGGCCTTGTTCAGATTGGCCACCTCTGCTGAGAAGTCCATACCAGTACACCCCTAATAAGTTATGCCACATAC
CAACGTACTGTGGATATTATAACCTGCATTAAAACAACTCTAAAGAA

hide sequence

RefSeq Acc Id:

NM_001288953 ⟹ NP_001275882

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	46,915,866 - 47,076,123 (+)	NCBI
HuRef	2	46,880,523 - 47,040,351 (+)	NCBI
CHM1_1	2	47,073,538 - 47,233,491 (+)	NCBI
T2T-CHM13v2.0	2	46,920,640 - 47,080,920 (+)	NCBI

Sequence:

show sequence

ATTGGCGCCGCCGGGCCCCTCCCGCTGGCGGCGGCGGGCTGTGAGGACGGCTCGCGTGAGTCCA
CGTGTAATCGGCCCGGGCCCAGCACTGGCGGGACTGACGCAGTTCTTCTACCTGCTTTCCCAAGGGCGACACTCGGCTCCACTCCAGTTGGGCCGCTGGACGCCCTAGGGGCCCGGCAGTTGCTAGGC
AACGCCGGAAGCCCTCAGGAACGTAGTTCCACGGGCGACGTAGGATGGCGGATCCGGATGGGGCGGACCCCAAAGCTGGCTCCCAACTCCGCTCACCCCCTCCTATACAGGGCTCTTGGTTCAGGTCT
CTTGGTTCGTCCTGCTGCAAGTTGGGAAGAAAGATAATAGGAATGCTAATTCCTTCTTGATGAAACGACCACAACACGCTGGAGCCGGCCTTGGACCCTACGTTTCAAGATTGGCCTGCTTCCAGCGT
CTGCCAGCTCCACTGCACAAGCTGCGGCAGCCGCTGTCCCCGTTCGCTTCCACGGGAGTCCCAGCAAGACTATGCGACCCAGTTCAAATACCATCTTCCATGTACCGTTCGTGAAATCAGCAGCTTTT
GACATTCAAGAGAGGACAGATTACTTAAAAACAGACTCATGAACAAATAGGGAAACGAATACATCATCCCTGTATCGAATTCATCCCTGTATAATCCTGCCCTTACACCTGTGCTCCTATACAAGATT
AACATTCAAAAAGAGTCTCCATGGTGCCCAGCTCGTCTCGAACTCCTGGGTTCAAGCAATCCTCCCACCACCTCCGCCTCCCAAAGTGCTGGGATTACAGGGATGACTTTGGGAAATTGCTGCTGGCT
GAGGCCCTCCTGGAGCAGTGTTTGAAGGAGAACCATGCCAAAATAAAAGACTCCATGCCTTTGCTGGAGAAGAATGAGCCGAAGATGAGCGAAGCCAAAAATTATCTAAGCAGTATCCTTAACCATGG
GAGGCTCTCGCCACAGTACATGTGTGAGGCCATGCTGATCCTGGGCAAACTGCATTACGTGGAGGGCTCATACCGAGATGCCATCAGCATGTACGCACGGGCCGGGATTGATGACATGTCCATGGAGA
ACAAGCCCCTGTATCAGATGCGGCTGCTGTCGGAGGCTTTTGTCATCAAAGGCCTCTCTCTGGAACGCCTACCCAACTCCATCGCCTCCCGCTTCCGCCTGACAGAGAGGGAGGAGGAAGTGATCACC
TGTTTTGAGAGGGCCTCCTGGATCGCTCAGGTGTTCCTGCAGGAATTGGAGAAGACCACAAATAACAGCACGTCGAGGCATCTGAAAGGCTGTCACCCGCTTGACTATGAGCTCACCTACTTCCTGGA
AGCTGCCCTCCAGAGCGCCTATGTGAAAAACCTGAAGAAGGGGAACATCGTGAAGGGCATGAGAGAGCTCCGGGAGGTGCTGCGGACTGTGGAGACCAAAGCAACTCAGAACTTCAAAGTGATGGCGG
CCAAGCACCTGGCGGGGGTCCTGCTGCACTCCCTGAGTGAGGAGTGCTACTGGAGCCCCCTGTCCCACCCTCTGCCTGAGTTCATGGGCAAGGAGGAGAGTTCTTTCGCCACTCAGGCCCTGCGGAAA
CCTCACCTCTATGAAGGAGACAACCTCTACTGCCCCAAGGACAACATCGAGGAAGCCCTCCTGCTCCTCCTCATCAGCGAATCCATGGCAACTCGAGATGTGGTGCTGAGCCGGGTGCCGGAGCAGGA
GGAGGACCGGACAGTGAGCTTGCAGAATGCCGCAGCCATCTATGACCTCCTGAGCATCACGTTGGGCAGAAGGGGACAGTACGTCATGCTCTCGGAGTGCCTGGAGCGAGCCATGAAGTTTGCGTTTG
GAGAATTTCACCTTTGGTACCAGGTGGCCCTCTCCATGGTGGCTTGTGGGAAGTCAGCCTACGCTGTGTCCCTGCTGCGGGAGTGTGTGAAGTTGCGGCCCTCGGACCCCACCGTGCCCCTGATGGCC
GCGAAGGTCTGCATCGGGTCCCTTCGCTGGCTAGAGGAAGCAGAGCACTTTGCCATGATGGTGATCAGCCTCGGAGAGGAAGCCGGGGAGTTCCTCCCCAAGGGCTACCTGGCTCTGGGTCTCACCTA
TAGCCTGCAGGCCACCGACGCCACCCTGAAGTCCAAGCAAGATGAATTGCACCGGAAGGCACTGCAGACGCTGGAGAGGGCTCAGCAGCTGGCGCCCAGTGACCCCCAGGTCATCCTCTATGTCTCGC
TGCAGCTGGCCCTCGTCCGACAGATCTCCAGTGCCATGGAGCAGCTGCAGGAGGCCCTGAAGGTACGCAAGGATGATGCCCACGCCCTCCACCTGCTGGCACTGCTCTTCTCTGCCCAGAAGCACCAC
CAGCATGCCCTGGATGTTGTCAACATGGCCATCACCGAGCACCCTGAGAACTTCAACCTGATGTTCACCAAGGTGAAGCTGGAGCAGGTGCTGAAAGGCCCAGAGGAAGCCCTCGTGACCTGCAGACA
AGTGCTGAGGCTGTGGCAGACCCTGTACAGCTTCTCCCAGCTGGGAGGCCTAGAAAAGGATGGCAGCTTCGGTGAGGGCCTCACCATGAAGAAGCAGAGTGGCATGCACCTGACTTTGCCTGATGCCC
ATGATGCAGACTCTGGCTCCCGGCGGGCTTCGTCCATCGCCGCCTCCCGGCTGGAGGAGGCCATGTCAGAGCTGACTATGCCCTCTTCGGTCCTGAAGCAGGGCCCCATGCAGCTGTGGACCACGCTG
GAACAGATCTGGCTGCAGGCTGCTGAGCTGTTCATGGAGCAGCAGCACCTCAAGGAAGCAGGTTTCTGCATCCAGGAGGCGGCGGGCCTCTTCCCCACTTCTCACTCAGTACTCTATATGCGGGGCCG
GCTGGCTGAGGTGAAGGGCAACCTGGAGGAGGCCAAGCAGCTGTACAAGGAGGCGCTCACGGTGAACCCAGATGGCGTGCGCATCATGCATAGCCTGGGTCTGATGCTGAGTCGGCTGGGCCACAAGA
GCTTGGCCCAGAAGGTGCTTCGTGATGCCGTGGAGAGGCAGAGTACGTGCCACGAGGCGTGGCAGGGCCTGGGCGAGGTGCTGCAGGCCCAGGGCCAGAACGAGGCTGCCGTTGACTGCTTCCTCACC
GCCCTTGAGCTGGAGGCCAGCAGCCCTGTACTGCCCTTCTCCATCATCCCCAGAGAGCTCTGACGACGCTGCAGCCGCAGGGAGGGAGGGGCTGGCCAGAGGGAGAGGCAGCAGGGAACGTGGGTCAG
GGTGGGGCAACAGTGGCATCAGGTGCGGGGCCTCAGGGAAATACATCTTTAGTGAACGCCTCTGCAGCTGCAGCCCTCGTTCTCTTGGCTGGGCCAAGAGGGCCTTCCTGGATTTCTTTGTTGGTGCC
TTGGGAAACAGTCTGACTTGAACCCTAAGTGCCTTTGGAGAGTTTTGTGGTGACCAGACTTGCTCCCCAAGAGCTGGGCAGCGGGGAGCCTCACAGCTGTCCTTCACCCTCACCCATGCCTCTGGCTT
GGAGTCTGGGTGGGGGGTTCTCACTCCCCACTCTCAGCACAGTACAGACTTCTGGATCTCTCTCAGGTCTTGCCCAGGGCGGTCACAATGTGAAGAAACTGCGGGCAAGTGGGAAGACTATGAGATTT
CTGGGTTCCCTTCTCAGACTTGGAGTTAGTAGATGATTCCTGCATTGCCCCTGCTTGCCCTCTGAGACCAGCTGGGCCCCACCTTGCTCTTTCCCCCTGCTACCAAGTGCCTTTGGGGTCTGACCAGG
GGTACTGAGCACCGGCCCTAACACTTCCATCTCCACCCACCCCATCTCCCTGGCGATGTGCTCCAGCCCAAGCAGCCTCCGTAGGCTTTAGATCCTGTGGTTGCTAGATCCAGTCCTTTCTAATACCC
TGAGTCAACACATTACTCCTGCAGGTCTTAGGCTACAATGCAGGTCCCTTGAGGGCCACCAACATGGAGGTAGGCAGTTTCTAGGACTGTCCCCAGTACATCTCACCACCCACAGCCCTTTTTTTGCC
TTGATTCGAGCCTCACCCTGGCCTTTTGGCTTCCCCTGCCTGAGAGAGACCTGAGGAGGGGACAGAGCCCAGCCCCTCTCCTGTGGCTGAGCAGGCCTCTGTGTCCATGACACCTGTCTTCCGGGCCT
GGGGGCTGTGGGTGTATGTCCTCCCTACTGGCTTCCCCGGCCCCTGCTGCATGATGCTCTTGGAACTCTTCTCCAAGGAGTCAGTCCCCCAGGCCTATCAGGGGATCCTTTTGTATCTGCACTTTGGG
TTTTAGTTTCAAAGCTCCATCAGGTACAGCTTGCATTTCAGGATGTGTGGAAAGCTCGGGTGAGGGCTGCCCTGGTTCATCATAGCTCCACCTTCCTCGGAAGGAGTGGGCTGTTGGAGACCCCCCAT
CCATGGCACACTAGCTCAGCACTGCATTTCCCGAGATGATTCCCAAGACAGCTGGTGCCTCCTGGCTTTCCTGTGCCAGGCCAAGGGGCACCACAGAGGACCCTGGATCCTTTGCCTCTTCTTGGTTG
AAGGATCTCTATGTATGTGTGTATATAAATATAGTTTTTTATCTATATATATAAAATAGAGATCTATTTTTTTTCTGGAATTCTGTTAGAAAAGTAAAGAAAAAGCAAATGCTGTTGGTTTATCTCAG
GGTGCCCAAAGTGGTTATAGTCAATTTTTGGTACTAGGAAAGGCACCCAATGCATTTCCTGACTTTTAAGCATTTCCTTGTTGGAAGCAGCAGAGGGCCAGGCCAAGTTGCTGACAGTGACTTTGCAG
GTTGAATAAAGAAACCCTTGGAGGGGAAGCAGGCTTGTCTGAAGCAGCATGTATATTCACTGGGCATGTAGCTCCCACACCAGCCTTGAGCCAGGCCCTGGACAGGAGGGGCTGTTGCAGGATGAGGG
AGGCCAGAGAAGGCATCGAAGCCAAGACCTGGGCCCACCTGGGGAGGGATGTGGGAAAGGAAGGATGGGAGGGAGGACCCTCTGGGAAAATGTGGATTTGAGCTGGTGAGAGTGTTGCTAAGGCTGGG
CTAAAGCCTGGAGAGGGTAGGAGGAGGCAAGAGGGGTCCAGGCAGGGCTGATCCTGGCCTCTGACCTGTCCAGGGCGACCCCTGAAGCCCCTGCTGCCTCTGGGCATTGCTGGGAGAGGCCAAGGCAG
GACTCACGTCTGAACAGAGATCCCCTCGGGCATTGCTGATGGGCCACCTTCAGCTGCAGGGAAGAAGCCTAGGAGAGGAGGCATGGGAGGGACCTGGGCCTTGTTCAGATTGGCCACCTCTGCTGAGA
AGTCCATACCAGTACACCCCTAATAAGTTATGCCACATACCAACGTACTGTGGATATTATAACCTGCATTAAAACAACTCTAAAGAA

hide sequence

RefSeq Acc Id:

NM_001288955 ⟹ NP_001275884

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	46,941,224 - 47,076,123 (+)	NCBI
HuRef	2	46,880,523 - 47,040,351 (+)	NCBI
CHM1_1	2	47,098,597 - 47,233,491 (+)	NCBI
T2T-CHM13v2.0	2	46,946,000 - 47,080,920 (+)	NCBI

Sequence:

show sequence

GTGGCAGCAGCTGCAGCGGCGGCGGCGGCGGCAGCGCCAGGAGCTGCTACAGCAGAGGCGGAGGTTGCTCCTGTACGCGTACGGGCCGCTCGGCCGGAGCCGCAGCCCGGAGGCGCCGGGCGGTGCGC
TGGGAGCTGCTGGTGCTGCTGCTGCTGCTGCTGCCCACCCTCCGCCGCCCGGGCCCCCGCTGCCGCCCGGGCCCCGGCTGCCGTCTGCGCCCCCGTCGACCCCGCCCGCGAGTGCGCCCCAGCCAGGA
CGCCGCCCCCGGCCGGGTCTCCACTTCTTGGCCGCACCTTCCATGACAGCGCCCGCGAGAAGATGGCTGCGAAGGGCGCGCACGGCTCCTACCTGAAGGTGGAGAGCGAGCTGGAGCGCTGCCGCGCC
GAGGGCCACTGGGACCGCATGCCGGAGCTGGTCCGGCAGCTGCAGACGCTGAGCATGCCCGGCGGCGGAGGTAACAGGCGAGGCAGCCCGAGCGCAGCGTTCACCTTTCCGGACACCGATGACTTTGG
GAAATTGCTGCTGGCTGAGGCCCTCCTGGAGCAGTGTTTGAAGGAGAACCATGCCAAAATAAAAGACTCCATGCCTTTGCTGGAGAAGAATGAGCCGAAGATGAGCGAAGCCAAAAATTATCTAAGCA
GTATCCTTAACCATGGGAGGCTCTCGCCACAGTACATGTGTGAGGCCATGCTGATCCTGGGCAAACTGCATTACGTGGAGGGCTCATACCGAGATGCCATCAGCATGTACGCACGGGCCGGGATTGAT
GACATGTCCATGGAGAACAAGCCCCTGTATCAGATGCGGCTGCTGTCGGAGGCTTTTGTCATCAAAGGCCTCTCTCTGGAACGCCTACCCAACTCCATCGCCTCCCGCTTCCGCCTGACAGAGAGGGA
GGAGGAAGTGATCACCTGTTTTGAGAGGGCCTCCTGGATCGCTCAGGTGTTCCTGCAGGAATTGGAGAAGACCACAAATAACAGCACGTCGAGGCATCTGAAAGGCTGTCACCCGCTTGACTATGAGC
TCACCTACTTCCTGGAAGCTGCCCTCCAGAGCGCCTATGTGAAAAACCTGAAGAAGGGGAACATCGTGAAGGGCATGAGAGAGCTCCGGGAGGTGCTGCGGACTGTGGAGACCAAAGCAACTCAGAAC
TTCAAAGTGCCTCTACTGCCCCAAGGACAACATCGAGGAAGCCCTCCTGCTCCTCCTCATCAGCGAATCCATGGCAACTCGAGATGTGGTGCTGAGCCGGGTGCCGGAGCAGGAGGAGGACCGGACAG
TGAGCTTGCAGAATGCCGCAGCCATCTATGACCTCCTGAGCATCACGTTGGGCAGAAGGGGACAGTACGTCATGCTCTCGGAGTGCCTGGAGCGAGCCATGAAGTTTGCGTTTGGAGAATTTCACCTT
TGGTACCAGGTGGCCCTCTCCATGGTGGCTTGTGGGAAGTCAGCCTACGCTGTGTCCCTGCTGCGGGAGTGTGTGAAGTTGCGGCCCTCGGACCCCACCGTGCCCCTGATGGCCGCGAAGGTCTGCAT
CGGGTCCCTTCGCTGGCTAGAGGAAGCAGAGCACTTTGCCATGATGGTGATCAGCCTCGGAGAGGAAGCCGGGGAGTTCCTCCCCAAGGGCTACCTGGCTCTGGGTCTCACCTATAGCCTGCAGGCCA
CCGACGCCACCCTGAAGTCCAAGCAAGATGAATTGCACCGGAAGGCACTGCAGACGCTGGAGAGGGCTCAGCAGCTGGCGCCCAGTGACCCCCAGGTCATCCTCTATGTCTCGCTGCAGCTGGCCCTC
GTCCGACAGATCTCCAGTGCCATGGAGCAGCTGCAGGAGGCCCTGAAGGTACGCAAGGATGATGCCCACGCCCTCCACCTGCTGGCACTGCTCTTCTCTGCCCAGAAGCACCACCAGCATGCCCTGGA
TGTTGTCAACATGGCCATCACCGAGCACCCTGAGAACTTCAACCTGATGTTCACCAAGGTGAAGCTGGAGCAGGTGCTGAAAGGCCCAGAGGAAGCCCTCGTGACCTGCAGACAAGTGCTGAGGCTGT
GGCAGACCCTGTACAGCTTCTCCCAGCTGGGAGGCCTAGAAAAGGATGGCAGCTTCGGTGAGGGCCTCACCATGAAGAAGCAGAGTGGCATGCACCTGACTTTGCCTGATGCCCATGATGCAGACTCT
GGCTCCCGGCGGGCTTCGTCCATCGCCGCCTCCCGGCTGGAGGAGGCCATGTCAGAGCTGACTATGCCCTCTTCGGTCCTGAAGCAGGGCCCCATGCAGCTGTGGACCACGCTGGAACAGATCTGGCT
GCAGGCTGCTGAGCTGTTCATGGAGCAGCAGCACCTCAAGGAAGCAGGTTTCTGCATCCAGGAGGCGGCGGGCCTCTTCCCCACTTCTCACTCAGTACTCTATATGCGGGGCCGGCTGGCTGAGGTGA
AGGGCAACCTGGAGGAGGCCAAGCAGCTGTACAAGGAGGCGCTCACGGTGAACCCAGATGGCGTGCGCATCATGCATAGCCTGGGTCTGATGCTGAGTCGGCTGGGCCACAAGAGCTTGGCCCAGAAG
GTGCTTCGTGATGCCGTGGAGAGGCAGAGTACGTGCCACGAGGCGTGGCAGGGCCTGGGCGAGGTGCTGCAGGCCCAGGGCCAGAACGAGGCTGCCGTTGACTGCTTCCTCACCGCCCTTGAGCTGGA
GGCCAGCAGCCCTGTACTGCCCTTCTCCATCATCCCCAGAGAGCTCTGACGACGCTGCAGCCGCAGGGAGGGAGGGGCTGGCCAGAGGGAGAGGCAGCAGGGAACGTGGGTCAGGGTGGGGCAACAGT
GGCATCAGGTGCGGGGCCTCAGGGAAATACATCTTTAGTGAACGCCTCTGCAGCTGCAGCCCTCGTTCTCTTGGCTGGGCCAAGAGGGCCTTCCTGGATTTCTTTGTTGGTGCCTTGGGAAACAGTCT
GACTTGAACCCTAAGTGCCTTTGGAGAGTTTTGTGGTGACCAGACTTGCTCCCCAAGAGCTGGGCAGCGGGGAGCCTCACAGCTGTCCTTCACCCTCACCCATGCCTCTGGCTTGGAGTCTGGGTGGG
GGGTTCTCACTCCCCACTCTCAGCACAGTACAGACTTCTGGATCTCTCTCAGGTCTTGCCCAGGGCGGTCACAATGTGAAGAAACTGCGGGCAAGTGGGAAGACTATGAGATTTCTGGGTTCCCTTCT
CAGACTTGGAGTTAGTAGATGATTCCTGCATTGCCCCTGCTTGCCCTCTGAGACCAGCTGGGCCCCACCTTGCTCTTTCCCCCTGCTACCAAGTGCCTTTGGGGTCTGACCAGGGGTACTGAGCACCG
GCCCTAACACTTCCATCTCCACCCACCCCATCTCCCTGGCGATGTGCTCCAGCCCAAGCAGCCTCCGTAGGCTTTAGATCCTGTGGTTGCTAGATCCAGTCCTTTCTAATACCCTGAGTCAACACATT
ACTCCTGCAGGTCTTAGGCTACAATGCAGGTCCCTTGAGGGCCACCAACATGGAGGTAGGCAGTTTCTAGGACTGTCCCCAGTACATCTCACCACCCACAGCCCTTTTTTTGCCTTGATTCGAGCCTC
ACCCTGGCCTTTTGGCTTCCCCTGCCTGAGAGAGACCTGAGGAGGGGACAGAGCCCAGCCCCTCTCCTGTGGCTGAGCAGGCCTCTGTGTCCATGACACCTGTCTTCCGGGCCTGGGGGCTGTGGGTG
TATGTCCTCCCTACTGGCTTCCCCGGCCCCTGCTGCATGATGCTCTTGGAACTCTTCTCCAAGGAGTCAGTCCCCCAGGCCTATCAGGGGATCCTTTTGTATCTGCACTTTGGGTTTTAGTTTCAAAG
CTCCATCAGGTACAGCTTGCATTTCAGGATGTGTGGAAAGCTCGGGTGAGGGCTGCCCTGGTTCATCATAGCTCCACCTTCCTCGGAAGGAGTGGGCTGTTGGAGACCCCCCATCCATGGCACACTAG
CTCAGCACTGCATTTCCCGAGATGATTCCCAAGACAGCTGGTGCCTCCTGGCTTTCCTGTGCCAGGCCAAGGGGCACCACAGAGGACCCTGGATCCTTTGCCTCTTCTTGGTTGAAGGATCTCTATGT
ATGTGTGTATATAAATATAGTTTTTTATCTATATATATAAAATAGAGATCTATTTTTTTTCTGGAATTCTGTTAGAAAAGTAAAGAAAAAGCAAATGCTGTTGGTTTATCTCAGGGTGCCCAAAGTGG
TTATAGTCAATTTTTGGTACTAGGAAAGGCACCCAATGCATTTCCTGACTTTTAAGCATTTCCTTGTTGGAAGCAGCAGAGGGCCAGGCCAAGTTGCTGACAGTGACTTTGCAGGTTGAATAAAGAAA
CCCTTGGAGGGGAAGCAGGCTTGTCTGAAGCAGCATGTATATTCACTGGGCATGTAGCTCCCACACCAGCCTTGAGCCAGGCCCTGGACAGGAGGGGCTGTTGCAGGATGAGGGAGGCCAGAGAAGGC
ATCGAAGCCAAGACCTGGGCCCACCTGGGGAGGGATGTGGGAAAGGAAGGATGGGAGGGAGGACCCTCTGGGAAAATGTGGATTTGAGCTGGTGAGAGTGTTGCTAAGGCTGGGCTAAAGCCTGGAGA
GGGTAGGAGGAGGCAAGAGGGGTCCAGGCAGGGCTGATCCTGGCCTCTGACCTGTCCAGGGCGACCCCTGAAGCCCCTGCTGCCTCTGGGCATTGCTGGGAGAGGCCAAGGCAGGACTCACGTCTGAA
CAGAGATCCCCTCGGGCATTGCTGATGGGCCACCTTCAGCTGCAGGGAAGAAGCCTAGGAGAGGAGGCATGGGAGGGACCTGGGCCTTGTTCAGATTGGCCACCTCTGCTGAGAAGTCCATACCAGTA
CACCCCTAATAAGTTATGCCACATACCAACGTACTGTGGATATTATAACCTGCATTAAAACAACTCTAAAGAA

hide sequence

RefSeq Acc Id:

NM_020458 ⟹ NP_065191

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	46,941,224 - 47,076,123 (+)	NCBI
GRCh37	2	47,168,313 - 47,303,275 (+)	RGD
GRCh37	2	47,168,313 - 47,303,275 (+)	NCBI
Build 36	2	47,021,817 - 47,156,779 (+)	NCBI Archive
Celera	2	47,007,266 - 47,142,129 (+)	RGD
HuRef	2	46,880,523 - 47,040,351 (+)	NCBI
CHM1_1	2	47,098,597 - 47,233,491 (+)	NCBI
T2T-CHM13v2.0	2	46,946,000 - 47,080,920 (+)	NCBI

Sequence:

show sequence

GTGGCAGCAGCTGCAGCGGCGGCGGCGGCGGCAGCGCCAGGAGCTGCTACAGCAGAGGCGGAGGTTGCTCCTGTACGCGTACGGGCCGCTCGGCCGGAGCCGCAGCCCGGAGGCGCCGGGCGGTGCGC
TGGGAGCTGCTGGTGCTGCTGCTGCTGCTGCTGCCCACCCTCCGCCGCCCGGGCCCCCGCTGCCGCCCGGGCCCCGGCTGCCGTCTGCGCCCCCGTCGACCCCGCCCGCGAGTGCGCCCCAGCCAGGA
CGCCGCCCCCGGCCGGGTCTCCACTTCTTGGCCGCACCTTCCATGACAGCGCCCGCGAGAAGATGGCTGCGAAGGGCGCGCACGGCTCCTACCTGAAGGTGGAGAGCGAGCTGGAGCGCTGCCGCGCC
GAGGGCCACTGGGACCGCATGCCGGAGCTGGTCCGGCAGCTGCAGACGCTGAGCATGCCCGGCGGCGGAGGTAACAGGCGAGGCAGCCCGAGCGCAGCGTTCACCTTTCCGGACACCGATGACTTTGG
GAAATTGCTGCTGGCTGAGGCCCTCCTGGAGCAGTGTTTGAAGGAGAACCATGCCAAAATAAAAGACTCCATGCCTTTGCTGGAGAAGAATGAGCCGAAGATGAGCGAAGCCAAAAATTATCTAAGCA
GTATCCTTAACCATGGGAGGCTCTCGCCACAGTACATGTGTGAGGCCATGCTGATCCTGGGCAAACTGCATTACGTGGAGGGCTCATACCGAGATGCCATCAGCATGTACGCACGGGCCGGGATTGAT
GACATGTCCATGGAGAACAAGCCCCTGTATCAGATGCGGCTGCTGTCGGAGGCTTTTGTCATCAAAGGCCTCTCTCTGGAACGCCTACCCAACTCCATCGCCTCCCGCTTCCGCCTGACAGAGAGGGA
GGAGGAAGTGATCACCTGTTTTGAGAGGGCCTCCTGGATCGCTCAGGTGTTCCTGCAGGAATTGGAGAAGACCACAAATAACAGCACGTCGAGGCATCTGAAAGGCTGTCACCCGCTTGACTATGAGC
TCACCTACTTCCTGGAAGCTGCCCTCCAGAGCGCCTATGTGAAAAACCTGAAGAAGGGGAACATCGTGAAGGGCATGAGAGAGCTCCGGGAGGTGCTGCGGACTGTGGAGACCAAAGCAACTCAGAAC
TTCAAAGTGATGGCGGCCAAGCACCTGGCGGGGGTCCTGCTGCACTCCCTGAGTGAGGAGTGCTACTGGAGCCCCCTGTCCCACCCTCTGCCTGAGTTCATGGGCAAGGAGGAGAGTTCTTTCGCCAC
TCAGGCCCTGCGGAAACCTCACCTCTATGAAGGAGACAACCTCTACTGCCCCAAGGACAACATCGAGGAAGCCCTCCTGCTCCTCCTCATCAGCGAATCCATGGCAACTCGAGATGTGGTGCTGAGCC
GGGTGCCGGAGCAGGAGGAGGACCGGACAGTGAGCTTGCAGAATGCCGCAGCCATCTATGACCTCCTGAGCATCACGTTGGGCAGAAGGGGACAGTACGTCATGCTCTCGGAGTGCCTGGAGCGAGCC
ATGAAGTTTGCGTTTGGAGAATTTCACCTTTGGTACCAGGTGGCCCTCTCCATGGTGGCTTGTGGGAAGTCAGCCTACGCTGTGTCCCTGCTGCGGGAGTGTGTGAAGTTGCGGCCCTCGGACCCCAC
CGTGCCCCTGATGGCCGCGAAGGTCTGCATCGGGTCCCTTCGCTGGCTAGAGGAAGCAGAGCACTTTGCCATGATGGTGATCAGCCTCGGAGAGGAAGCCGGGGAGTTCCTCCCCAAGGGCTACCTGG
CTCTGGGTCTCACCTATAGCCTGCAGGCCACCGACGCCACCCTGAAGTCCAAGCAAGATGAATTGCACCGGAAGGCACTGCAGACGCTGGAGAGGGCTCAGCAGCTGGCGCCCAGTGACCCCCAGGTC
ATCCTCTATGTCTCGCTGCAGCTGGCCCTCGTCCGACAGATCTCCAGTGCCATGGAGCAGCTGCAGGAGGCCCTGAAGGTACGCAAGGATGATGCCCACGCCCTCCACCTGCTGGCACTGCTCTTCTC
TGCCCAGAAGCACCACCAGCATGCCCTGGATGTTGTCAACATGGCCATCACCGAGCACCCTGAGAACTTCAACCTGATGTTCACCAAGGTGAAGCTGGAGCAGGTGCTGAAAGGCCCAGAGGAAGCCC
TCGTGACCTGCAGACAAGTGCTGAGGCTGTGGCAGACCCTGTACAGCTTCTCCCAGCTGGGAGGCCTAGAAAAGGATGGCAGCTTCGGTGAGGGCCTCACCATGAAGAAGCAGAGTGGCATGCACCTG
ACTTTGCCTGATGCCCATGATGCAGACTCTGGCTCCCGGCGGGCTTCGTCCATCGCCGCCTCCCGGCTGGAGGAGGCCATGTCAGAGCTGACTATGCCCTCTTCGGTCCTGAAGCAGGGCCCCATGCA
GCTGTGGACCACGCTGGAACAGATCTGGCTGCAGGCTGCTGAGCTGTTCATGGAGCAGCAGCACCTCAAGGAAGCAGGTTTCTGCATCCAGGAGGCGGCGGGCCTCTTCCCCACTTCTCACTCAGTAC
TCTATATGCGGGGCCGGCTGGCTGAGGTGAAGGGCAACCTGGAGGAGGCCAAGCAGCTGTACAAGGAGGCGCTCACGGTGAACCCAGATGGCGTGCGCATCATGCATAGCCTGGGTCTGATGCTGAGT
CGGCTGGGCCACAAGAGCTTGGCCCAGAAGGTGCTTCGTGATGCCGTGGAGAGGCAGAGTACGTGCCACGAGGCGTGGCAGGGCCTGGGCGAGGTGCTGCAGGCCCAGGGCCAGAACGAGGCTGCCGT
TGACTGCTTCCTCACCGCCCTTGAGCTGGAGGCCAGCAGCCCTGTACTGCCCTTCTCCATCATCCCCAGAGAGCTCTGACGACGCTGCAGCCGCAGGGAGGGAGGGGCTGGCCAGAGGGAGAGGCAGC
AGGGAACGTGGGTCAGGGTGGGGCAACAGTGGCATCAGGTGCGGGGCCTCAGGGAAATACATCTTTAGTGAACGCCTCTGCAGCTGCAGCCCTCGTTCTCTTGGCTGGGCCAAGAGGGCCTTCCTGGA
TTTCTTTGTTGGTGCCTTGGGAAACAGTCTGACTTGAACCCTAAGTGCCTTTGGAGAGTTTTGTGGTGACCAGACTTGCTCCCCAAGAGCTGGGCAGCGGGGAGCCTCACAGCTGTCCTTCACCCTCA
CCCATGCCTCTGGCTTGGAGTCTGGGTGGGGGGTTCTCACTCCCCACTCTCAGCACAGTACAGACTTCTGGATCTCTCTCAGGTCTTGCCCAGGGCGGTCACAATGTGAAGAAACTGCGGGCAAGTGG
GAAGACTATGAGATTTCTGGGTTCCCTTCTCAGACTTGGAGTTAGTAGATGATTCCTGCATTGCCCCTGCTTGCCCTCTGAGACCAGCTGGGCCCCACCTTGCTCTTTCCCCCTGCTACCAAGTGCCT
TTGGGGTCTGACCAGGGGTACTGAGCACCGGCCCTAACACTTCCATCTCCACCCACCCCATCTCCCTGGCGATGTGCTCCAGCCCAAGCAGCCTCCGTAGGCTTTAGATCCTGTGGTTGCTAGATCCA
GTCCTTTCTAATACCCTGAGTCAACACATTACTCCTGCAGGTCTTAGGCTACAATGCAGGTCCCTTGAGGGCCACCAACATGGAGGTAGGCAGTTTCTAGGACTGTCCCCAGTACATCTCACCACCCA
CAGCCCTTTTTTTGCCTTGATTCGAGCCTCACCCTGGCCTTTTGGCTTCCCCTGCCTGAGAGAGACCTGAGGAGGGGACAGAGCCCAGCCCCTCTCCTGTGGCTGAGCAGGCCTCTGTGTCCATGACA
CCTGTCTTCCGGGCCTGGGGGCTGTGGGTGTATGTCCTCCCTACTGGCTTCCCCGGCCCCTGCTGCATGATGCTCTTGGAACTCTTCTCCAAGGAGTCAGTCCCCCAGGCCTATCAGGGGATCCTTTT
GTATCTGCACTTTGGGTTTTAGTTTCAAAGCTCCATCAGGTACAGCTTGCATTTCAGGATGTGTGGAAAGCTCGGGTGAGGGCTGCCCTGGTTCATCATAGCTCCACCTTCCTCGGAAGGAGTGGGCT
GTTGGAGACCCCCCATCCATGGCACACTAGCTCAGCACTGCATTTCCCGAGATGATTCCCAAGACAGCTGGTGCCTCCTGGCTTTCCTGTGCCAGGCCAAGGGGCACCACAGAGGACCCTGGATCCTT
TGCCTCTTCTTGGTTGAAGGATCTCTATGTATGTGTGTATATAAATATAGTTTTTTATCTATATATATAAAATAGAGATCTATTTTTTTTCTGGAATTCTGTTAGAAAAGTAAAGAAAAAGCAAATGC
TGTTGGTTTATCTCAGGGTGCCCAAAGTGGTTATAGTCAATTTTTGGTACTAGGAAAGGCACCCAATGCATTTCCTGACTTTTAAGCATTTCCTTGTTGGAAGCAGCAGAGGGCCAGGCCAAGTTGCT
GACAGTGACTTTGCAGGTTGAATAAAGAAACCCTTGGAGGGGAAGCAGGCTTGTCTGAAGCAGCATGTATATTCACTGGGCATGTAGCTCCCACACCAGCCTTGAGCCAGGCCCTGGACAGGAGGGGC
TGTTGCAGGATGAGGGAGGCCAGAGAAGGCATCGAAGCCAAGACCTGGGCCCACCTGGGGAGGGATGTGGGAAAGGAAGGATGGGAGGGAGGACCCTCTGGGAAAATGTGGATTTGAGCTGGTGAGAG
TGTTGCTAAGGCTGGGCTAAAGCCTGGAGAGGGTAGGAGGAGGCAAGAGGGGTCCAGGCAGGGCTGATCCTGGCCTCTGACCTGTCCAGGGCGACCCCTGAAGCCCCTGCTGCCTCTGGGCATTGCTG
GGAGAGGCCAAGGCAGGACTCACGTCTGAACAGAGATCCCCTCGGGCATTGCTGATGGGCCACCTTCAGCTGCAGGGAAGAAGCCTAGGAGAGGAGGCATGGGAGGGACCTGGGCCTTGTTCAGATTG
GCCACCTCTGCTGAGAAGTCCATACCAGTACACCCCTAATAAGTTATGCCACATACCAACGTACTGTGGATATTATAACCTGCATTAAAACAACTCTAAAGAA

hide sequence

RefSeq Acc Id:

XM_011532999 ⟹ XP_011531301

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	46,941,224 - 47,051,246 (+)	NCBI

Sequence:

show sequence

CAGCTGCAGCGGCGGCGGCGGCGGCAGCGCCAGGAGCTGCTACAGCAGAGGCGGAGGTTGCTCCTGTACGCGTACGGGCCGCTCGGCCGGAGCCGCAGCCCGGAGGCGCCGGGCGGTGCGCTGGGAGC
TGCTGGTGCTGCTGCTGCTGCTGCTGCCCACCCTCCGCCGCCCGGGCCCCCGCTGCCGCCCGGGCCCCGGCTGCCGTCTGCGCCCCCGTCGACCCCGCCCGCGAGTGCGCCCCAGCCAGGACGCCGCC
CCCGGCCGGGTCTCCACTTCTTGGCCGCACCTTCCATGACAGCGCCCGCGAGAAGATGGCTGCGAAGGGCGCGCACGGCTCCTACCTGAAGGTGGAGAGCGAGCTGGAGCGCTGCCGCGCCGAGGGCC
ACTGGGACCGCATGCCGGAGCTGGTCCGGCAGCTGCAGACGCTGAGCATGCCCGGCGGCGGAGGTAACAGGCGAGGCAGCCCGAGCGCAGCGTTCACCTTTCCGGACACCGATGACTTTGGGAAATTG
CTGCTGGCTGAGGCCCTCCTGGAGCAGTGTTTGAAGGAGAACCATGCCAAAATAAAAGACTCCATGCCTTTGCTGGAGAAGAATGAGCCGAAGATGAGCGAAGCCAAAAATTATCTAAGCAGTATCCT
TAACCATGGGAGGCTCTCGCCACAGTACATGTGTGAGGCCATGCTGATCCTGGGCAAACTGCATTACGTGGAGGGCTCATACCGAGATGCCATCAGCATGTACGCACGGGCCGGGATTGATGACATGT
CCATGGAGAACAAGCCCCTGTATCAGATGCGGCTGCTGTCGGAGGCTTTTGTCATCAAAGGCCTCTCTCTGGAACGCCTACCCAACTCCATCGCCTCCCGCTTCCGCCTGACAGAGAGGGAGGAGGAA
GTGATCACCTGTTTTGAGAGGGCCTCCTGGATCGCTCAGGTGTTCCTGCAGGAATTGGAGAAGACCACAAATAACAGCACGTCGAGGCATCTGAAAGGCTGTCACCCGCTTGACTATGAGCTCACCTA
CTTCCTGGAAGCTGCCCTCCAGAGCGCCTATGTGAAAAACCTGAAGAAGGGGAACATCGTGAAGGGCATGAGAGAGCTCCGGGAGGTGCTGCGGACTGTGGAGACCAAAGCAACTCAGAACTTCAAAG
TGATGGCGGCCAAGCACCTGGCGGGGGTCCTGCTGCACTCCCTGAGTGAGGAGTGCTACTGGAGCCCCCTGTCCCACCCTCTGCCTGAGTTCATGGGCAAGGAGGAGAGTTCTTTCGCCACTCAGGCC
CTGCGGAAACCTCACCTCTATGAAGGAGACAACCTCTACTGCCCCAAGGACAACATCGAGGAAGCCCTCCTGCTCCTCCTCATCAGCGAATCCATGGCAACTCGAGATGTGGTGCTGAGCCGGGTGCC
GGAGCAGGAGGAGGACCGGACAGTGAGCTTGCAGAATGCCGCAGCCATCTATGACCTCCTGAGCATCACGTTGGGCAGAAGGGGACAGTACGTCATGCTCTCGGAGTGCCTGGAGCGAGCCATGAAGT
TTGCGTTTGGAGAATTTCACCTTTGGTACCAGGTGGCCCTCTCCATGGTGGCTTGTGGGAAGTCAGCCTACGCTGTGTCCCTGCTGCGGGAGTGTGTGAAGTTGCGGCCCTCGGACCCCACCGTGCCC
CTGATGGCCGCGAAGGTCTGCATCGGGTCCCTTCGCTGGCTAGAGGAAGCAGAGCACTTTGCCATGATGGTGATCAGCCTCGGAGAGGAAGCCGGGGAGTTCCTCCCCAAGGGCTACCTGGCTCTGGG
TCTCACCTATAGCCTGCAGGCCACCGACGCCACCCTGAAGTCCAAGCAAGATGAATTGCACCGGAAGGCACTGCAGACGCTGGAGAGGGCTCAGCAGCTGGCGCCCAGTGACCCCCAGGTCATCCTCT
ATGTCTCGCTGCAGCTGGCCCTCGTCCGACAGATCTCCAGTGCCATGGAGCAGCTGCAGGAGGCCCTGAAGGTACGCAAGGATGATGCCCACGCCCTCCACCTGCTGGCACTGCTCTTCTCTGCCCAG
AAGCACCACCAGCATGCCCTGGATGTTGTCAACATGGCCATCACCGAGCACCCTGAGAACTTCAACCTGATGTTCACCAAGGTGAAGCTGGAGCAGGTGCTGAAAGGCCCAGAGGAAGCCCTCGTGAC
CTGCAGACAAGTGCTGAGGCTGTGGCAGACCCTGTACAGCTTCTCCCAGCTGGGAGGCCTAGAAAAGGATGGCAGCTTCGGTGAGGGCCTCACCATGAAGAAGCAGAGTGGCATGCACCTGACTTTGC
CTGATGCCCATGATGCAGACTCTGGCTCAAGCCAGAGGCCACAGTCCACGTAATGTCCTTGGCAGATCAAGTCAAATAGAAAGGAATGGACTGAGCTCTTTACAATTCTAAGCTGAAAGCAGACTCTT
TTCTGGAAAAACTCATCCTGAAACCCATGGCTTGTGAAATTCAAATGAGTTCAGGAACTGCAGACTTAACATTTTTTAACTGAGGACCTGCTTAAAGCAGAACACCTTCATCAAAAACACAAGAATTA
GTCATGGGAAAGAAGGTGTGAGTGGAGTTGTATTTAGTGGAATTGCTCAGTTTTTTCACTTCTGTAGACATGAGCCTTTCTGTGGACAAAGCCTTGCACCTTTGTTGTCAAATGACAGAGTTGATTTC
AGAAGCCAAACCTAGCACCCAACTTTAGAGGCACATCTCAGGGGTGTATGGCTGTATGCAGAGCTTCTGTCTCCCAGGAGGGAATGGTTAAGGGAGGGGAGAATGGTAGCTCCCTTGCAATTAAAGAA
GGAAGAATCATGAACAAAGTTATTAGGACTCCAGGTACACTTGTCTCATAAACTGAAGTCATCCGTGGTTTGCCGTGAGGTCTCCTGAGTTTATTGGAGCCTTTATTGCGTCTATGACAGAGAGAGAG
AAAGTGCTCACATTTCACCTGCATGGGAATTATAAATGTCAACAGCTTATATGTCCTGAACCGGAGCCCATGTCACCCAGAACTGCCACTGAGAGAGGTTTTCCAGAGGGCAGTGTTCTGACTTGAGC
TGCTATCCAGTCCTTCACAGCACAGCCTTGAATGGGTACCTTTCTACAAACAAATGAGAATATGCACTTGTGAAAACAGAAGGTGAAAATAGCCAAGGGAAGAAAAGAAAAATCATTCCTAATTTCAC
CACTTAGACCTTAATAAATGGCCTTTCAGACTTTTT

hide sequence

RefSeq Acc Id:

XM_011533000 ⟹ XP_011531302

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	46,978,118 - 47,076,123 (+)	NCBI

Sequence:

show sequence

TACCATGTGCTCAGGCAGTGAGTGCTGTCTGGTTGAAGAGTGAGTGCTCAGCATGGTTCTGGAC
AGACAGAGAAGTCCTCCTGCAGTAGAGGACCACAAATAACAGCACGTCGAGGCATCTGAAAGGCTGTCACCCGCTTGACTATGAGCTCACCTACTTCCTGGAAGCTGCCCTCCAGAGCGCCTATGTGA
AAAACCTGAAGAAGGGGAACATCGTGAAGGGCATGAGAGAGCTCCGGGAGGTGCTGCGGACTGTGGAGACCAAAGCAACTCAGAACTTCAAAGTGATGGCGGCCAAGCACCTGGCGGGGGTCCTGCTG
CACTCCCTGAGTGAGGAGTGCTACTGGAGCCCCCTGTCCCACCCTCTGCCTGAGTTCATGGGCAAGGAGGAGAGTTCTTTCGCCACTCAGGCCCTGCGGAAACCTCACCTCTATGAAGGAGACAACCT
CTACTGCCCCAAGGACAACATCGAGGAAGCCCTCCTGCTCCTCCTCATCAGCGAATCCATGGCAACTCGAGATGTGGTGCTGAGCCGGGTGCCGGAGCAGGAGGAGGACCGGACAGTGAGCTTGCAGA
ATGCCGCAGCCATCTATGACCTCCTGAGCATCACGTTGGGCAGAAGGGGACAGTACGTCATGCTCTCGGAGTGCCTGGAGCGAGCCATGAAGTTTGCGTTTGGAGAATTTCACCTTTGGTACCAGGTG
GCCCTCTCCATGGTGGCTTGTGGGAAGTCAGCCTACGCTGTGTCCCTGCTGCGGGAGTGTGTGAAGTTGCGGCCCTCGGACCCCACCGTGCCCCTGATGGCCGCGAAGGTCTGCATCGGGTCCCTTCG
CTGGCTAGAGGAAGCAGAGCACTTTGCCATGATGGTGATCAGCCTCGGAGAGGAAGCCGGGGAGTTCCTCCCCAAGGGCTACCTGGCTCTGGGTCTCACCTATAGCCTGCAGGCCACCGACGCCACCC
TGAAGTCCAAGCAAGATGAATTGCACCGGAAGGCACTGCAGACGCTGGAGAGGGCTCAGCAGCTGGCGCCCAGTGACCCCCAGGTCATCCTCTATGTCTCGCTGCAGCTGGCCCTCGTCCGACAGATC
TCCAGTGCCATGGAGCAGCTGCAGGAGGCCCTGAAGGTACGCAAGGATGATGCCCACGCCCTCCACCTGCTGGCACTGCTCTTCTCTGCCCAGAAGCACCACCAGCATGCCCTGGATGTTGTCAACAT
GGCCATCACCGAGCACCCTGAGAACTTCAACCTGATGTTCACCAAGGTGAAGCTGGAGCAGGTGCTGAAAGGCCCAGAGGAAGCCCTCGTGACCTGCAGACAAGTGCTGAGGCTGTGGCAGACCCTGT
ACAGCTTCTCCCAGCTGGGAGGCCTAGAAAAGGATGGCAGCTTCGGTGAGGGCCTCACCATGAAGAAGCAGAGTGGCATGCACCTGACTTTGCCTGATGCCCATGATGCAGACTCTGGCTCCCGGCGG
GCTTCGTCCATCGCCGCCTCCCGGCTGGAGGAGGCCATGTCAGAGCTGACTATGCCCTCTTCGGTCCTGAAGCAGGGCCCCATGCAGCTGTGGACCACGCTGGAACAGATCTGGCTGCAGGCTGCTGA
GCTGTTCATGGAGCAGCAGCACCTCAAGGAAGCAGGTTTCTGCATCCAGGAGGCGGCGGGCCTCTTCCCCACTTCTCACTCAGTACTCTATATGCGGGGCCGGCTGGCTGAGGTGAAGGGCAACCTGG
AGGAGGCCAAGCAGCTGTACAAGGAGGCGCTCACGGTGAACCCAGATGGCGTGCGCATCATGCATAGCCTGGGTCTGATGCTGAGTCGGCTGGGCCACAAGAGCTTGGCCCAGAAGGTGCTTCGTGAT
GCCGTGGAGAGGCAGAGTACGTGCCACGAGGCGTGGCAGGGCCTGGGCGAGGTGCTGCAGGCCCAGGGCCAGAACGAGGCTGCCGTTGACTGCTTCCTCACCGCCCTTGAGCTGGAGGCCAGCAGCCC
TGTACTGCCCTTCTCCATCATCCCCAGAGAGCTCTGACGACGCTGCAGCCGCAGGGAGGGAGGGGCTGGCCAGAGGGAGAGGCAGCAGGGAACGTGGGTCAGGGTGGGGCAACAGTGGCATCAGGTGC
GGGGCCTCAGGGAAATACATCTTTAGTGAACGCCTCTGCAGCTGCAGCCCTCGTTCTCTTGGCTGGGCCAAGAGGGCCTTCCTGGATTTCTTTGTTGGTGCCTTGGGAAACAGTCTGACTTGAACCCT
AAGTGCCTTTGGAGAGTTTTGTGGTGACCAGACTTGCTCCCCAAGAGCTGGGCAGCGGGGAGCCTCACAGCTGTCCTTCACCCTCACCCATGCCTCTGGCTTGGAGTCTGGGTGGGGGGTTCTCACTC
CCCACTCTCAGCACAGTACAGACTTCTGGATCTCTCTCAGGTCTTGCCCAGGGCGGTCACAATGTGAAGAAACTGCGGGCAAGTGGGAAGACTATGAGATTTCTGGGTTCCCTTCTCAGACTTGGAGT
TAGTAGATGATTCCTGCATTGCCCCTGCTTGCCCTCTGAGACCAGCTGGGCCCCACCTTGCTCTTTCCCCCTGCTACCAAGTGCCTTTGGGGTCTGACCAGGGGTACTGAGCACCGGCCCTAACACTT
CCATCTCCACCCACCCCATCTCCCTGGCGATGTGCTCCAGCCCAAGCAGCCTCCGTAGGCTTTAGATCCTGTGGTTGCTAGATCCAGTCCTTTCTAATACCCTGAGTCAACACATTACTCCTGCAGGT
CTTAGGCTACAATGCAGGTCCCTTGAGGGCCACCAACATGGAGGTAGGCAGTTTCTAGGACTGTCCCCAGTACATCTCACCACCCACAGCCCTTTTTTTGCCTTGATTCGAGCCTCACCCTGGCCTTT
TGGCTTCCCCTGCCTGAGAGAGACCTGAGGAGGGGACAGAGCCCAGCCCCTCTCCTGTGGCTGAGCAGGCCTCTGTGTCCATGACACCTGTCTTCCGGGCCTGGGGGCTGTGGGTGTATGTCCTCCCT
ACTGGCTTCCCCGGCCCCTGCTGCATGATGCTCTTGGAACTCTTCTCCAAGGAGTCAGTCCCCCAGGCCTATCAGGGGATCCTTTTGTATCTGCACTTTGGGTTTTAGTTTCAAAGCTCCATCAGGTA
CAGCTTGCATTTCAGGATGTGTGGAAAGCTCGGGTGAGGGCTGCCCTGGTTCATCATAGCTCCACCTTCCTCGGAAGGAGTGGGCTGTTGGAGACCCCCCATCCATGGCACACTAGCTCAGCACTGCA
TTTCCCGAGATGATTCCCAAGACAGCTGGTGCCTCCTGGCTTTCCTGTGCCAGGCCAAGGGGCACCACAGAGGACCCTGGATCCTTTGCCTCTTCTTGGTTGAAGGATCTCTATGTATGTGTGTATAT
AAATATAGTTTTTTATCTATATATATAAAATAGAGATCTATTTTTTTTCTGGAATTCTGTTAGAAAAGTAAAGAAAAAGCAAATGCTGTTGGTTTATCTCAGGGTGCCCAAAGTGGTTATAGTCAATT
TTTGGTACTAGGAAAGGCACCCAATGCATTTCCTGACTTTTAAGCATTTCCTTGTTGGAAGCAGCAGAGGGCCAGGCCAAGTTGCTGACAGTGACTTTGCAGGTTGAATAAAGAAACCCTTGGAGGGG
AAGCAGGCTTGTCTGAAGCAGCATGTATATTCACTGGGCATGTAGCTCCCACACCAGCCTTGAGCCAGGCCCTGGACAGGAGGGGCTGTTGCAGGATGAGGGAGGCCAGAGAAGGCATCGAAGCCAAG
ACCTGGGCCCACCTGGGGAGGGATGTGGGAAAGGAAGGATGGGAGGGAGGACCCTCTGGGAAAATGTGGATTTGAGCTGGTGAGAGTGTTGCTAAGGCTGGGCTAAAGCCTGGAGAGGGTAGGAGGAG
GCAAGAGGGGTCCAGGCAGGGCTGATCCTGGCCTCTGACCTGTCCAGGGCGACCCCTGAAGCCCCTGCTGCCTCTGGGCATTGCTGGGAGAGGCCAAGGCAGGACTCACGTCTGAACAGAGATCCCCT
CGGGCATTGCTGATGGGCCACCTTCAGCTGCAGGGAAGAAGCCTAGGAGAGGAGGCATGGGAGGGACCTGGGCCTTGTTCAGATTGGCCACCTCTGCTGAGAAGTCCATACCAGTACACCCCTAATAA
GTTATGCCACATACCAACGTACTGTGGATATTATAACCTGCATTAAAACAACTCTAAAGAA

hide sequence

RefSeq Acc Id:

XM_011533001 ⟹ XP_011531303

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	47,005,235 - 47,076,123 (+)	NCBI

Sequence:

show sequence

TCTGGGAATGTCGTTGTCAAAGCTACTTGAGAGGCTGAAGAGGAAGAGAAGAGGGCACTGGGGG
CCACAGCCCAACCTCCCCACCAAGAGTCAAGCAGCAGAGCCACCTACCCAATCCAGGCACTTTCACATCTTAGCCAAAACTCTTGCTGTAATTGTGAGAATTGCAAACACACCAGGGACTGTTCCATA
AAACGACTGGCCTGTGCTCCTCAAAAATGCCAGTGTCATGAGAGAGAAAGGTGGAGGGCCGCTTCCAGATACAGGGAGATTAAAGAGACATGGCACCTGAATACAAGGCAACTCGAGATGTGGTGCTG
AGCCGGGTGCCGGAGCAGGAGGAGGACCGGACAGTGAGCTTGCAGAATGCCGCAGCCATCTATGACCTCCTGAGCATCACGTTGGGCAGAAGGGGACAGTACGTCATGCTCTCGGAGTGCCTGGAGCG
AGCCATGAAGTTTGCGTTTGGAGAATTTCACCTTTGGTACCAGGTGGCCCTCTCCATGGTGGCTTGTGGGAAGTCAGCCTACGCTGTGTCCCTGCTGCGGGAGTGTGTGAAGTTGCGGCCCTCGGACC
CCACCGTGCCCCTGATGGCCGCGAAGGTCTGCATCGGGTCCCTTCGCTGGCTAGAGGAAGCAGAGCACTTTGCCATGATGGTGATCAGCCTCGGAGAGGAAGCCGGGGAGTTCCTCCCCAAGGGCTAC
CTGGCTCTGGGTCTCACCTATAGCCTGCAGGCCACCGACGCCACCCTGAAGTCCAAGCAAGATGAATTGCACCGGAAGGCACTGCAGACGCTGGAGAGGGCTCAGCAGCTGGCGCCCAGTGACCCCCA
GGTCATCCTCTATGTCTCGCTGCAGCTGGCCCTCGTCCGACAGATCTCCAGTGCCATGGAGCAGCTGCAGGAGGCCCTGAAGGTACGCAAGGATGATGCCCACGCCCTCCACCTGCTGGCACTGCTCT
TCTCTGCCCAGAAGCACCACCAGCATGCCCTGGATGTTGTCAACATGGCCATCACCGAGCACCCTGAGAACTTCAACCTGATGTTCACCAAGGTGAAGCTGGAGCAGGTGCTGAAAGGCCCAGAGGAA
GCCCTCGTGACCTGCAGACAAGTGCTGAGGCTGTGGCAGACCCTGTACAGCTTCTCCCAGCTGGGAGGCCTAGAAAAGGATGGCAGCTTCGGTGAGGGCCTCACCATGAAGAAGCAGAGTGGCATGCA
CCTGACTTTGCCTGATGCCCATGATGCAGACTCTGGCTCCCGGCGGGCTTCGTCCATCGCCGCCTCCCGGCTGGAGGAGGCCATGTCAGAGCTGACTATGCCCTCTTCGGTCCTGAAGCAGGGCCCCA
TGCAGCTGTGGACCACGCTGGAACAGATCTGGCTGCAGGCTGCTGAGCTGTTCATGGAGCAGCAGCACCTCAAGGAAGCAGGTTTCTGCATCCAGGAGGCGGCGGGCCTCTTCCCCACTTCTCACTCA
GTACTCTATATGCGGGGCCGGCTGGCTGAGGTGAAGGGCAACCTGGAGGAGGCCAAGCAGCTGTACAAGGAGGCGCTCACGGTGAACCCAGATGGCGTGCGCATCATGCATAGCCTGGGTCTGATGCT
GAGTCGGCTGGGCCACAAGAGCTTGGCCCAGAAGGTGCTTCGTGATGCCGTGGAGAGGCAGAGTACGTGCCACGAGGCGTGGCAGGGCCTGGGCGAGGTGCTGCAGGCCCAGGGCCAGAACGAGGCTG
CCGTTGACTGCTTCCTCACCGCCCTTGAGCTGGAGGCCAGCAGCCCTGTACTGCCCTTCTCCATCATCCCCAGAGAGCTCTGACGACGCTGCAGCCGCAGGGAGGGAGGGGCTGGCCAGAGGGAGAGG
CAGCAGGGAACGTGGGTCAGGGTGGGGCAACAGTGGCATCAGGTGCGGGGCCTCAGGGAAATACATCTTTAGTGAACGCCTCTGCAGCTGCAGCCCTCGTTCTCTTGGCTGGGCCAAGAGGGCCTTCC
TGGATTTCTTTGTTGGTGCCTTGGGAAACAGTCTGACTTGAACCCTAAGTGCCTTTGGAGAGTTTTGTGGTGACCAGACTTGCTCCCCAAGAGCTGGGCAGCGGGGAGCCTCACAGCTGTCCTTCACC
CTCACCCATGCCTCTGGCTTGGAGTCTGGGTGGGGGGTTCTCACTCCCCACTCTCAGCACAGTACAGACTTCTGGATCTCTCTCAGGTCTTGCCCAGGGCGGTCACAATGTGAAGAAACTGCGGGCAA
GTGGGAAGACTATGAGATTTCTGGGTTCCCTTCTCAGACTTGGAGTTAGTAGATGATTCCTGCATTGCCCCTGCTTGCCCTCTGAGACCAGCTGGGCCCCACCTTGCTCTTTCCCCCTGCTACCAAGT
GCCTTTGGGGTCTGACCAGGGGTACTGAGCACCGGCCCTAACACTTCCATCTCCACCCACCCCATCTCCCTGGCGATGTGCTCCAGCCCAAGCAGCCTCCGTAGGCTTTAGATCCTGTGGTTGCTAGA
TCCAGTCCTTTCTAATACCCTGAGTCAACACATTACTCCTGCAGGTCTTAGGCTACAATGCAGGTCCCTTGAGGGCCACCAACATGGAGGTAGGCAGTTTCTAGGACTGTCCCCAGTACATCTCACCA
CCCACAGCCCTTTTTTTGCCTTGATTCGAGCCTCACCCTGGCCTTTTGGCTTCCCCTGCCTGAGAGAGACCTGAGGAGGGGACAGAGCCCAGCCCCTCTCCTGTGGCTGAGCAGGCCTCTGTGTCCAT
GACACCTGTCTTCCGGGCCTGGGGGCTGTGGGTGTATGTCCTCCCTACTGGCTTCCCCGGCCCCTGCTGCATGATGCTCTTGGAACTCTTCTCCAAGGAGTCAGTCCCCCAGGCCTATCAGGGGATCC
TTTTGTATCTGCACTTTGGGTTTTAGTTTCAAAGCTCCATCAGGTACAGCTTGCATTTCAGGATGTGTGGAAAGCTCGGGTGAGGGCTGCCCTGGTTCATCATAGCTCCACCTTCCTCGGAAGGAGTG
GGCTGTTGGAGACCCCCCATCCATGGCACACTAGCTCAGCACTGCATTTCCCGAGATGATTCCCAAGACAGCTGGTGCCTCCTGGCTTTCCTGTGCCAGGCCAAGGGGCACCACAGAGGACCCTGGAT
CCTTTGCCTCTTCTTGGTTGAAGGATCTCTATGTATGTGTGTATATAAATATAGTTTTTTATCTATATATATAAAATAGAGATCTATTTTTTTTCTGGAATTCTGTTAGAAAAGTAAAGAAAAAGCAA
ATGCTGTTGGTTTATCTCAGGGTGCCCAAAGTGGTTATAGTCAATTTTTGGTACTAGGAAAGGCACCCAATGCATTTCCTGACTTTTAAGCATTTCCTTGTTGGAAGCAGCAGAGGGCCAGGCCAAGT
TGCTGACAGTGACTTTGCAGGTTGAATAAAGAAACCCTTGGAGGGGAAGCAGGCTTGTCTGAAGCAGCATGTATATTCACTGGGCATGTAGCTCCCACACCAGCCTTGAGCCAGGCCCTGGACAGGAG
GGGCTGTTGCAGGATGAGGGAGGCCAGAGAAGGCATCGAAGCCAAGACCTGGGCCCACCTGGGGAGGGATGTGGGAAAGGAAGGATGGGAGGGAGGACCCTCTGGGAAAATGTGGATTTGAGCTGGTG
AGAGTGTTGCTAAGGCTGGGCTAAAGCCTGGAGAGGGTAGGAGGAGGCAAGAGGGGTCCAGGCAGGGCTGATCCTGGCCTCTGACCTGTCCAGGGCGACCCCTGAAGCCCCTGCTGCCTCTGGGCATT
GCTGGGAGAGGCCAAGGCAGGACTCACGTCTGAACAGAGATCCCCTCGGGCATTGCTGATGGGCCACCTTCAGCTGCAGGGAAGAAGCCTAGGAGAGGAGGCATGGGAGGGACCTGGGCCTTGTTCAG
ATTGGCCACCTCTGCTGAGAAGTCCATACCAGTACACCCCTAATAAGTTATGCCACATACCAACGTACTGTGGATATTATAACCTGCATTAAAACAACTCTAAAGAA

hide sequence

RefSeq Acc Id:

XM_017004524 ⟹ XP_016860013

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	46,941,224 - 47,076,123 (+)	NCBI

Sequence:

show sequence

GCAGCTGCAGCGGCGGCGGCGGCGGCAGCGCCAGGAGCTGCTACAGCAGAGGCGGAGGTTGCTCCTGTACGCGTACGGGCCGCTCGGCCGGAGCCGCAGCCCGGAGGCGCCGGGCGGTGCGCTGGGAG
CTGCTGGTGCTGCTGCTGCTGCTGCTGCCCACCCTCCGCCGCCCGGGCCCCCGCTGCCGCCCGGGCCCCGGCTGCCGTCTGCGCCCCCGTCGACCCCGCCCGCGAGTGCGCCCCAGCCAGGACGCCGC
CCCCGGCCGGGTCTCCACTTCTTGGCCGCACCTTCCATGACAGCGCCCGCGAGAAGATGGCTGCGAAGGGCGCGCACGGCTCCTACCTGAAGGTGGAGAGCGAGCTGGAGCGCTGCCGCGCCGAGGGC
CACTGGGACCGCATGCCGGAGCTGGTCCGGCAGCTGCAGACGCTGAGCATGCCCGGCGGCGGAGGTAACAGGCGAGGCAGCCCGAGCGCAGCGTTCACCTTTCCGGACACCGATGACTTTGGGAAATT
GCTGCTGGCTGAGGCCCTCCTGGAGCAGTGTTTGAAGGAGAACCATGCCAAAATAAAAGACTCCATGCCTTTGCTGGAGAAGAATGAGCCGAAGATGAGCGAAGCCAAAAATTATCTAAGCAGTATCC
TTAACCATGGGAGGCTCTCGCCACAGTACATGTGTGAGGCCATGCTGATCCTGGGCAAACTGCATTACGTGGAGGGCTCATACCGAGATGCCATCAGCATGTACGCACGGGCCGGGATTGATGACATG
TCCATGGAGAACAAGCCCCTGTATCAGATGCGGCTGCTGTCGGAGGCTTTTGTCATCAAAGGCCTCTCTCTGGAACGCCTACCCAACTCCATCGCCTCCCGCTTCCGCCTGACAGAGAGGGAGGAGGA
AGTGATCACCTGTTTTGAGAGGGCCTCCTGGATCGCTCAGGTGTTCCTGCAGGAATTGGAGAAGACCACAAATAACAGCACGTCGAGGCATCTGAAAGGCTGTCACCCGCTTGACTATGAGCTCACCT
ACTTCCTGGAAGCTGCCCTCCAGAGCGCCTATGTGAAAAACCTGAAGAAGGGGAACATCGTGAAGGGCATGAGAGAGCTCCGGGAGGTGCTGCGGACTGTGGAGACCAAAGCAACTCAGAACTTCAAA
GTGATGGCGGCCAAGCACCTGGCGGGGGTCCTGCTGCACTCCCTGAGTGAGGAGTGCTACTGGAGCCCCCTGTCCCACCCTCTGCCTGAGTTCATGGGCAAGGAGGAGAGTTCTTTCGCCACTCAGGC
CCTGCGGAAACCTCACCTCTATGAAGGAGACAACCTCTACTGCCCCAAGGACAACATCGAGGAAGCCCTCCTGCTCCTCCTCATCAGCGAATCCATGGCAACTCGAGATGTGGTGCTGAGCCGGGTGC
CGGAGCAGGAGGAGGACCGGACAGTGAGCTTGCAGAATGCCGCAGCCATCTATGACCTCCTGAGCATCACGTTGGGCAGAAGGGGACAGTACGTCATGCTCTCGGAGTGCCTGGAGCGAGCCATGAAG
TTTGCGTTTGGAGAATTTCACCTTTGGTACCAGGTGGCCCTCTCCATGGTGGCTTGTGGGAAGTCAGCCTACGCTGTGTCCCTGCTGCGGGAGTGTGTGAAGTTGCGGCCCTCGGACCCCACCGTGCC
CCTGATGGCCGCGAAGGTCTGCATCGGGTCCCTTCGCTGGCTAGAGGAAGCAGAGCACTTTGCCATGATGGTGATCAGCCTCGGAGAGGAAGCCGGGGAGTTCCTCCCCAAGGGCTACCTGGCTCTGG
GTCTCACCTATAGCCTGCAGGCCACCGACGCCACCCTGAAGTCCAAGCAAGATGAATTGCACCGGAAGGCACTGCAGACGCTGGAGAGGGCTCAGCAGCTGGCGCCCAGTGACCCCCAGGTCATCCTC
TATGTCTCGCTGCAGCTGGCCCTCGTCCGACAGATCTCCAGTGCCATGGAGCAGCTGCAGGAGGCCCTGAAGGTACGCAAGGATGATGCCCACGCCCTCCACCTGCTGGCACTGCTCTTCTCTGCCCA
GAAGCACCACCAGCATGCCCTGGATGTTGTCAACATGGCCATCACCGAGCACCCTGAGAACTTCAAAGGCCTAGAAAAGGATGGCAGCTTCGGTGAGGGCCTCACCATGAAGAAGCAGAGTGGCATGC
ACCTGACTTTGCCTGATGCCCATGATGCAGACTCTGGCTCCCGGCGGGCTTCGTCCATCGCCGCCTCCCGGCTGGAGGAGGCCATGTCAGAGCTGACTATGCCCTCTTCGGTCCTGAAGCAGGGCCCC
ATGCAGCTGTGGACCACGCTGGAACAGATCTGGCTGCAGGCTGCTGAGCTGTTCATGGAGCAGCAGCACCTCAAGGAAGCAGGTTTCTGCATCCAGGAGGCGGCGGGCCTCTTCCCCACTTCTCACTC
AGTACTCTATATGCGGGGCCGGCTGGCTGAGGTGAAGGGCAACCTGGAGGAGGCCAAGCAGCTGTACAAGGAGGCGCTCACGGTGAACCCAGATGGCGTGCGCATCATGCATAGCCTGGGTCTGATGC
TGAGTCGGCTGGGCCACAAGAGCTTGGCCCAGAAGGTGCTTCGTGATGCCGTGGAGAGGCAGAGTACGTGCCACGAGGCGTGGCAGGGCCTGGGCGAGGTGCTGCAGGCCCAGGGCCAGAACGAGGCT
GCCGTTGACTGCTTCCTCACCGCCCTTGAGCTGGAGGCCAGCAGCCCTGTACTGCCCTTCTCCATCATCCCCAGAGAGCTCTGACGACGCTGCAGCCGCAGGGAGGGAGGGGCTGGCCAGAGGGAGAG
GCAGCAGGGAACGTGGGTCAGGGTGGGGCAACAGTGGCATCAGGTGCGGGGCCTCAGGGAAATACATCTTTAGTGAACGCCTCTGCAGCTGCAGCCCTCGTTCTCTTGGCTGGGCCAAGAGGGCCTTC
CTGGATTTCTTTGTTGGTGCCTTGGGAAACAGTCTGACTTGAACCCTAAGTGCCTTTGGAGAGTTTTGTGGTGACCAGACTTGCTCCCCAAGAGCTGGGCAGCGGGGAGCCTCACAGCTGTCCTTCAC
CCTCACCCATGCCTCTGGCTTGGAGTCTGGGTGGGGGGTTCTCACTCCCCACTCTCAGCACAGTACAGACTTCTGGATCTCTCTCAGGTCTTGCCCAGGGCGGTCACAATGTGAAGAAACTGCGGGCA
AGTGGGAAGACTATGAGATTTCTGGGTTCCCTTCTCAGACTTGGAGTTAGTAGATGATTCCTGCATTGCCCCTGCTTGCCCTCTGAGACCAGCTGGGCCCCACCTTGCTCTTTCCCCCTGCTACCAAG
TGCCTTTGGGGTCTGACCAGGGGTACTGAGCACCGGCCCTAACACTTCCATCTCCACCCACCCCATCTCCCTGGCGATGTGCTCCAGCCCAAGCAGCCTCCGTAGGCTTTAGATCCTGTGGTTGCTAG
ATCCAGTCCTTTCTAATACCCTGAGTCAACACATTACTCCTGCAGGTCTTAGGCTACAATGCAGGTCCCTTGAGGGCCACCAACATGGAGGTAGGCAGTTTCTAGGACTGTCCCCAGTACATCTCACC
ACCCACAGCCCTTTTTTTGCCTTGATTCGAGCCTCACCCTGGCCTTTTGGCTTCCCCTGCCTGAGAGAGACCTGAGGAGGGGACAGAGCCCAGCCCCTCTCCTGTGGCTGAGCAGGCCTCTGTGTCCA
TGACACCTGTCTTCCGGGCCTGGGGGCTGTGGGTGTATGTCCTCCCTACTGGCTTCCCCGGCCCCTGCTGCATGATGCTCTTGGAACTCTTCTCCAAGGAGTCAGTCCCCCAGGCCTATCAGGGGATC
CTTTTGTATCTGCACTTTGGGTTTTAGTTTCAAAGCTCCATCAGGTACAGCTTGCATTTCAGGATGTGTGGAAAGCTCGGGTGAGGGCTGCCCTGGTTCATCATAGCTCCACCTTCCTCGGAAGGAGT
GGGCTGTTGGAGACCCCCCATCCATGGCACACTAGCTCAGCACTGCATTTCCCGAGATGATTCCCAAGACAGCTGGTGCCTCCTGGCTTTCCTGTGCCAGGCCAAGGGGCACCACAGAGGACCCTGGA
TCCTTTGCCTCTTCTTGGTTGAAGGATCTCTATGTATGTGTGTATATAAATATAGTTTTTTATCTATATATATAAAATAGAGATCTATTTTTTTTCTGGAATTCTGTTAGAAAAGTAAAGAAAAAGCA
AATGCTGTTGGTTTATCTCAGGGTGCCCAAAGTGGTTATAGTCAATTTTTGGTACTAGGAAAGGCACCCAATGCATTTCCTGACTTTTAAGCATTTCCTTGTTGGAAGCAGCAGAGGGCCAGGCCAAG
TTGCTGACAGTGACTTTGCAGGTTGAATAAAGAAACCCTTGGAGGGGAAGCAGGCTTGTCTGAAGCAGCATGTATATTCACTGGGCATGTAGCTCCCACACCAGCCTTGAGCCAGGCCCTGGACAGGA
GGGGCTGTTGCAGGATGAGGGAGGCCAGAGAAGGCATCGAAGCCAAGACCTGGGCCCACCTGGGGAGGGATGTGGGAAAGGAAGGATGGGAGGGAGGACCCTCTGGGAAAATGTGGATTTGAGCTGGT
GAGAGTGTTGCTAAGGCTGGGCTAAAGCCTGGAGAGGGTAGGAGGAGGCAAGAGGGGTCCAGGCAGGGCTGATCCTGGCCTCTGACCTGTCCAGGGCGACCCCTGAAGCCCCTGCTGCCTCTGGGCAT
TGCTGGGAGAGGCCAAGGCAGGACTCACGTCTGAACAGAGATCCCCTCGGGCATTGCTGATGGGCCACCTTCAGCTGCAGGGAAGAAGCCTAGGAGAGGAGGCATGGGAGGGACCTGGGCCTTGTTCA
GATTGGCCACCTCTGCTGAGAAGTCCATACCAGTACACCCCTAATAAGTTATGCCACATACCAACGTACTGTGGATATTATAACCTGCATTAAAACAACTCTAAAGAA

hide sequence

RefSeq Acc Id:

XM_017004525 ⟹ XP_016860014

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	46,944,399 - 47,076,123 (+)	NCBI

Sequence:

show sequence

CCTCCTGCCTCAGCCTCCCAAATGGCTGGGATCACAGATGACTTTGGGAAATTGCTGCTGGCTGAGGCCCTCCTGGAGCAGTGTTTGAAGGAGAACCATGCCAAAATAAAAGACTCCATGCCTTTGCT
GGAGAAGAATGAGCCGAAGATGAGCGAAGCCAAAAATTATCTAAGCAGTATCCTTAACCATGGGAGGCTCTCGCCACAGTACATGTGTGAGGCCATGCTGATCCTGGGCAAACTGCATTACGTGGAGG
GCTCATACCGAGATGCCATCAGCATGTACGCACGGGCCGGGATTGATGACATGTCCATGGAGAACAAGCCCCTGTATCAGATGCGGCTGCTGTCGGAGGCTTTTGTCATCAAAGGCCTCTCTCTGGAA
CGCCTACCCAACTCCATCGCCTCCCGCTTCCGCCTGACAGAGAGGGAGGAGGAAGTGATCACCTGTTTTGAGAGGGCCTCCTGGATCGCTCAGGTGTTCCTGCAGGAATTGGAGAAGACCACAAATAA
CAGCACGTCGAGGCATCTGAAAGGCTGTCACCCGCTTGACTATGAGCTCACCTACTTCCTGGAAGCTGCCCTCCAGAGCGCCTATGTGAAAAACCTGAAGAAGGGGAACATCGTGAAGGGCATGAGAG
AGCTCCGGGAGGTGCTGCGGACTGTGGAGACCAAAGCAACTCAGAACTTCAAAGTGATGGCGGCCAAGCACCTGGCGGGGGTCCTGCTGCACTCCCTGAGTGAGGAGTGCTACTGGAGCCCCCTGTCC
CACCCTCTGCCTGAGTTCATGGGCAAGGAGGAGAGTTCTTTCGCCACTCAGGCCCTGCGGAAACCTCACCTCTATGAAGGAGACAACCTCTACTGCCCCAAGGACAACATCGAGGAAGCCCTCCTGCT
CCTCCTCATCAGCGAATCCATGGCAACTCGAGATGTGGTGCTGAGCCGGGTGCCGGAGCAGGAGGAGGACCGGACAGTGAGCTTGCAGAATGCCGCAGCCATCTATGACCTCCTGAGCATCACGTTGG
GCAGAAGGGGACAGTACGTCATGCTCTCGGAGTGCCTGGAGCGAGCCATGAAGTTTGCGTTTGGAGAATTTCACCTTTGGTACCAGGTGGCCCTCTCCATGGTGGCTTGTGGGAAGTCAGCCTACGCT
GTGTCCCTGCTGCGGGAGTGTGTGAAGTTGCGGCCCTCGGACCCCACCGTGCCCCTGATGGCCGCGAAGGTCTGCATCGGGTCCCTTCGCTGGCTAGAGGAAGCAGAGCACTTTGCCATGATGGTGAT
CAGCCTCGGAGAGGAAGCCGGGGAGTTCCTCCCCAAGGGCTACCTGGCTCTGGGTCTCACCTATAGCCTGCAGGCCACCGACGCCACCCTGAAGTCCAAGCAAGATGAATTGCACCGGAAGGCACTGC
AGACGCTGGAGAGGGCTCAGCAGCTGGCGCCCAGTGACCCCCAGGTCATCCTCTATGTCTCGCTGCAGCTGGCCCTCGTCCGACAGATCTCCAGTGCCATGGAGCAGCTGCAGGAGGCCCTGAAGGTA
CGCAAGGATGATGCCCACGCCCTCCACCTGCTGGCACTGCTCTTCTCTGCCCAGAAGCACCACCAGCATGCCCTGGATGTTGTCAACATGGCCATCACCGAGCACCCTGAGAACTTCAACCTGATGTT
CACCAAGGTGAAGCTGGAGCAGGTGCTGAAAGGCCCAGAGGAAGCCCTCGTGACCTGCAGACAAGTGCTGAGGCTGTGGCAGACCCTGTACAGCTTCTCCCAGCTGGGAGGCCTAGAAAAGGATGGCA
GCTTCGGTGAGGGCCTCACCATGAAGAAGCAGAGTGGCATGCACCTGACTTTGCCTGATGCCCATGATGCAGACTCTGGCTCCCGGCGGGCTTCGTCCATCGCCGCCTCCCGGCTGGAGGAGGCCATG
TCAGAGCTGACTATGCCCTCTTCGGTCCTGAAGCAGGGCCCCATGCAGCTGTGGACCACGCTGGAACAGATCTGGCTGCAGGCTGCTGAGCTGTTCATGGAGCAGCAGCACCTCAAGGAAGCAGGTTT
CTGCATCCAGGAGGCGGCGGGCCTCTTCCCCACTTCTCACTCAGTACTCTATATGCGGGGCCGGCTGGCTGAGGTGAAGGGCAACCTGGAGGAGGCCAAGCAGCTGTACAAGGAGGCGCTCACGGTGA
ACCCAGATGGCGTGCGCATCATGCATAGCCTGGGTCTGATGCTGAGTCGGCTGGGCCACAAGAGCTTGGCCCAGAAGGTGCTTCGTGATGCCGTGGAGAGGCAGAGTACGTGCCACGAGGCGTGGCAG
GGCCTGGGCGAGGTGCTGCAGGCCCAGGGCCAGAACGAGGCTGCCGTTGACTGCTTCCTCACCGCCCTTGAGCTGGAGGCCAGCAGCCCTGTACTGCCCTTCTCCATCATCCCCAGAGAGCTCTGACG
ACGCTGCAGCCGCAGGGAGGGAGGGGCTGGCCAGAGGGAGAGGCAGCAGGGAACGTGGGTCAGGGTGGGGCAACAGTGGCATCAGGTGCGGGGCCTCAGGGAAATACATCTTTAGTGAACGCCTCTGC
AGCTGCAGCCCTCGTTCTCTTGGCTGGGCCAAGAGGGCCTTCCTGGATTTCTTTGTTGGTGCCTTGGGAAACAGTCTGACTTGAACCCTAAGTGCCTTTGGAGAGTTTTGTGGTGACCAGACTTGCTC
CCCAAGAGCTGGGCAGCGGGGAGCCTCACAGCTGTCCTTCACCCTCACCCATGCCTCTGGCTTGGAGTCTGGGTGGGGGGTTCTCACTCCCCACTCTCAGCACAGTACAGACTTCTGGATCTCTCTCA
GGTCTTGCCCAGGGCGGTCACAATGTGAAGAAACTGCGGGCAAGTGGGAAGACTATGAGATTTCTGGGTTCCCTTCTCAGACTTGGAGTTAGTAGATGATTCCTGCATTGCCCCTGCTTGCCCTCTGA
GACCAGCTGGGCCCCACCTTGCTCTTTCCCCCTGCTACCAAGTGCCTTTGGGGTCTGACCAGGGGTACTGAGCACCGGCCCTAACACTTCCATCTCCACCCACCCCATCTCCCTGGCGATGTGCTCCA
GCCCAAGCAGCCTCCGTAGGCTTTAGATCCTGTGGTTGCTAGATCCAGTCCTTTCTAATACCCTGAGTCAACACATTACTCCTGCAGGTCTTAGGCTACAATGCAGGTCCCTTGAGGGCCACCAACAT
GGAGGTAGGCAGTTTCTAGGACTGTCCCCAGTACATCTCACCACCCACAGCCCTTTTTTTGCCTTGATTCGAGCCTCACCCTGGCCTTTTGGCTTCCCCTGCCTGAGAGAGACCTGAGGAGGGGACAG
AGCCCAGCCCCTCTCCTGTGGCTGAGCAGGCCTCTGTGTCCATGACACCTGTCTTCCGGGCCTGGGGGCTGTGGGTGTATGTCCTCCCTACTGGCTTCCCCGGCCCCTGCTGCATGATGCTCTTGGAA
CTCTTCTCCAAGGAGTCAGTCCCCCAGGCCTATCAGGGGATCCTTTTGTATCTGCACTTTGGGTTTTAGTTTCAAAGCTCCATCAGGTACAGCTTGCATTTCAGGATGTGTGGAAAGCTCGGGTGAGG
GCTGCCCTGGTTCATCATAGCTCCACCTTCCTCGGAAGGAGTGGGCTGTTGGAGACCCCCCATCCATGGCACACTAGCTCAGCACTGCATTTCCCGAGATGATTCCCAAGACAGCTGGTGCCTCCTGG
CTTTCCTGTGCCAGGCCAAGGGGCACCACAGAGGACCCTGGATCCTTTGCCTCTTCTTGGTTGAAGGATCTCTATGTATGTGTGTATATAAATATAGTTTTTTATCTATATATATAAAATAGAGATCT
ATTTTTTTTCTGGAATTCTGTTAGAAAAGTAAAGAAAAAGCAAATGCTGTTGGTTTATCTCAGGGTGCCCAAAGTGGTTATAGTCAATTTTTGGTACTAGGAAAGGCACCCAATGCATTTCCTGACTT
TTAAGCATTTCCTTGTTGGAAGCAGCAGAGGGCCAGGCCAAGTTGCTGACAGTGACTTTGCAGGTTGAATAAAGAAACCCTTGGAGGGGAAGCAGGCTTGTCTGAAGCAGCATGTATATTCACTGGGC
ATGTAGCTCCCACACCAGCCTTGAGCCAGGCCCTGGACAGGAGGGGCTGTTGCAGGATGAGGGAGGCCAGAGAAGGCATCGAAGCCAAGACCTGGGCCCACCTGGGGAGGGATGTGGGAAAGGAAGGA
TGGGAGGGAGGACCCTCTGGGAAAATGTGGATTTGAGCTGGTGAGAGTGTTGCTAAGGCTGGGCTAAAGCCTGGAGAGGGTAGGAGGAGGCAAGAGGGGTCCAGGCAGGGCTGATCCTGGCCTCTGAC
CTGTCCAGGGCGACCCCTGAAGCCCCTGCTGCCTCTGGGCATTGCTGGGAGAGGCCAAGGCAGGACTCACGTCTGAACAGAGATCCCCTCGGGCATTGCTGATGGGCCACCTTCAGCTGCAGGGAAGA
AGCCTAGGAGAGGAGGCATGGGAGGGACCTGGGCCTTGTTCAGATTGGCCACCTCTGCTGAGAAGTCCATACCAGTACACCCCTAATAAGTTATGCCACATACCAACGTACTGTGGATATTATAACCT
GCATTAAAACAACTCTAAAGAA

hide sequence

RefSeq Acc Id:

XM_017004526 ⟹ XP_016860015

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	46,941,224 - 47,076,123 (+)	NCBI

Sequence:

show sequence

GCAGCTGCAGCGGCGGCGGCGGCGGCAGCGCCAGGAGCTGCTACAGCAGAGGCGGAGGTTGCTC
CTGTACGCGTACGGGCCGCTCGGCCGGAGCCGCAGCCCGGAGGCGCCGGGCGGTGCGCTGGGAGCTGCTGGTGCTGCTGCTGCTGCTGCTGCCCACCCTCCGCCGCCCGGGCCCCCGCTGCCGCCCGG
GCCCCGGCTGCCGTCTGCGCCCCCGTCGACCCCGCCCGCGAGTGCGCCCCAGCCAGGACGCCGCCCCCGGCCGGGTCTCCACTTCTTGGCCGCACCTTCCATGACAGCGCCCGCGAGAAGATGGCTGC
GAAGGGCGCGCACGGCTCCTACCTGAAGGTGGAGAGCGAGCTGGAGCGCTGCCGCGCCGAGGGCCACTGGGACCGCATGCCGGAGCTGGTCCGGCAGCTGCAGACGCTGAGCATGCCCGGCGGCGGAG
GTAACAGGCGAGGCAGCCCGAGCGCAGCGTTCACCTTTCCGGACACCGATGACTTTGGGAAATTGCTGCTGGCTGAGGCCCTCCTGGAGCAGTGTTTGAAGGAGAACCATGCCAAAATAAAAGACTCC
ATGCCTTTGCTGGAGAAGAATGAGCCGAAGATGAGCGAAGCCAAAAATTATCTAAGCAGTATCCTTAACCATGGGAGGCTCTCGCCACAGTACATGTGTGAGGCCATGCTGATCCTGGGCAAACTGCA
TTACGTGGAGGGCTCATACCGAGATGCCATCAGCATGTACGCACGGGCCGGGATTGATGACATGTCCATGGAGAACAAGCCCCTGTATCAGATGCGGCTGCTGTCGGAGGCTTTTGTCATCAAAGGCC
TCTCTCTGGAACGCCTACCCAACTCCATCGCCTCCCGCTTCCGCCTGACAGAGAGGGAGGAGGAAGTGATCACCTGTTTTGAGAGGGCCTCCTGGATCGCTCAGGTGTTCCTGCAGGAATTGGAGAAG
ACCACAAATAACAGCACGTCGAGGCATCTGAAAGGCTGTCACCCGCTTGACTATGAGCTCACCTACTTCCTGGAAGCTGCCCTCCAGAGCGCCTATGTGAAAAACCTGAAGAAGGGGAACATCGTGAA
GGGCATGAGAGAGCTCCGGGAGGTGCTGCGGACTGTGGAGACCAAAGCAACTCAGAACTTCAAAGTGATGGCGGCCAAGCACCTGGCGGGGGTCCTGCTGCACTCCCTGAGTGAGGAGTGCTACTGGA
GCCCCCTGTCCCACCCTCTGCCTGAGTTCATGGGCAAGGAGGAGAGTTCTTTCGCCACTCAGGCCCTGCGGAAACCTCACCTCTATGAAGGAGACAACCTCTACTGCCCCAAGGACAACATCGAGGAA
GCCCTCCTGCTCCTCCTCATCAGCGAATCCATGGCAACTCGAGATGTGGTGCTGAGCCGGGTGCCGGAGCAGGAGGAGGACCGGACAGTGAGCTTGCAGAATGCCGCAGCCATCTATGACCTCCTGAG
CATCACGTTGGGCAGAAGGGGACAGTACGTCATGCTCTCGGAGTGCCTGGAGCGAGCCATGAAGTTTGCGTTTGGAGAATTTCACCTTTGGTACCAGGTGGCCCTCTCCATGGTGGCTTGTGGGAAGT
CAGCCTACGCTGTGTCCCTGCTGCGGGAGTGTGTGAAGTTGCGGCCCTCGGACCCCACCGTGCCCCTGATGGCCGCGAAGGTCTGCATCGGGTCCCTTCGCTGGATCTCCAGTGCCATGGAGCAGCTG
CAGGAGGCCCTGAAGGTACGCAAGGATGATGCCCACGCCCTCCACCTGCTGGCACTGCTCTTCTCTGCCCAGAAGCACCACCAGCATGCCCTGGATGTTGTCAACATGGCCATCACCGAGCACCCTGA
GAACTTCAACCTGATGTTCACCAAGGTGAAGCTGGAGCAGGTGCTGAAAGGCCCAGAGGAAGCCCTCGTGACCTGCAGACAAGTGCTGAGGCTGTGGCAGACCCTGTACAGCTTCTCCCAGCTGGGAG
GCCTAGAAAAGGATGGCAGCTTCGGTGAGGGCCTCACCATGAAGAAGCAGAGTGGCATGCACCTGACTTTGCCTGATGCCCATGATGCAGACTCTGGCTCCCGGCGGGCTTCGTCCATCGCCGCCTCC
CGGCTGGAGGAGGCCATGTCAGAGCTGACTATGCCCTCTTCGGTCCTGAAGCAGGGCCCCATGCAGCTGTGGACCACGCTGGAACAGATCTGGCTGCAGGCTGCTGAGCTGTTCATGGAGCAGCAGCA
CCTCAAGGAAGCAGGTTTCTGCATCCAGGAGGCGGCGGGCCTCTTCCCCACTTCTCACTCAGTACTCTATATGCGGGGCCGGCTGGCTGAGGTGAAGGGCAACCTGGAGGAGGCCAAGCAGCTGTACA
AGGAGGCGCTCACGGTGAACCCAGATGGCGTGCGCATCATGCATAGCCTGGGTCTGATGCTGAGTCGGCTGGGCCACAAGAGCTTGGCCCAGAAGGTGCTTCGTGATGCCGTGGAGAGGCAGAGTACG
TGCCACGAGGCGTGGCAGGGCCTGGGCGAGGTGCTGCAGGCCCAGGGCCAGAACGAGGCTGCCGTTGACTGCTTCCTCACCGCCCTTGAGCTGGAGGCCAGCAGCCCTGTACTGCCCTTCTCCATCAT
CCCCAGAGAGCTCTGACGACGCTGCAGCCGCAGGGAGGGAGGGGCTGGCCAGAGGGAGAGGCAGCAGGGAACGTGGGTCAGGGTGGGGCAACAGTGGCATCAGGTGCGGGGCCTCAGGGAAATACATC
TTTAGTGAACGCCTCTGCAGCTGCAGCCCTCGTTCTCTTGGCTGGGCCAAGAGGGCCTTCCTGGATTTCTTTGTTGGTGCCTTGGGAAACAGTCTGACTTGAACCCTAAGTGCCTTTGGAGAGTTTTG
TGGTGACCAGACTTGCTCCCCAAGAGCTGGGCAGCGGGGAGCCTCACAGCTGTCCTTCACCCTCACCCATGCCTCTGGCTTGGAGTCTGGGTGGGGGGTTCTCACTCCCCACTCTCAGCACAGTACAG
ACTTCTGGATCTCTCTCAGGTCTTGCCCAGGGCGGTCACAATGTGAAGAAACTGCGGGCAAGTGGGAAGACTATGAGATTTCTGGGTTCCCTTCTCAGACTTGGAGTTAGTAGATGATTCCTGCATTG
CCCCTGCTTGCCCTCTGAGACCAGCTGGGCCCCACCTTGCTCTTTCCCCCTGCTACCAAGTGCCTTTGGGGTCTGACCAGGGGTACTGAGCACCGGCCCTAACACTTCCATCTCCACCCACCCCATCT
CCCTGGCGATGTGCTCCAGCCCAAGCAGCCTCCGTAGGCTTTAGATCCTGTGGTTGCTAGATCCAGTCCTTTCTAATACCCTGAGTCAACACATTACTCCTGCAGGTCTTAGGCTACAATGCAGGTCC
CTTGAGGGCCACCAACATGGAGGTAGGCAGTTTCTAGGACTGTCCCCAGTACATCTCACCACCCACAGCCCTTTTTTTGCCTTGATTCGAGCCTCACCCTGGCCTTTTGGCTTCCCCTGCCTGAGAGA
GACCTGAGGAGGGGACAGAGCCCAGCCCCTCTCCTGTGGCTGAGCAGGCCTCTGTGTCCATGACACCTGTCTTCCGGGCCTGGGGGCTGTGGGTGTATGTCCTCCCTACTGGCTTCCCCGGCCCCTGC
TGCATGATGCTCTTGGAACTCTTCTCCAAGGAGTCAGTCCCCCAGGCCTATCAGGGGATCCTTTTGTATCTGCACTTTGGGTTTTAGTTTCAAAGCTCCATCAGGTACAGCTTGCATTTCAGGATGTG
TGGAAAGCTCGGGTGAGGGCTGCCCTGGTTCATCATAGCTCCACCTTCCTCGGAAGGAGTGGGCTGTTGGAGACCCCCCATCCATGGCACACTAGCTCAGCACTGCATTTCCCGAGATGATTCCCAAG
ACAGCTGGTGCCTCCTGGCTTTCCTGTGCCAGGCCAAGGGGCACCACAGAGGACCCTGGATCCTTTGCCTCTTCTTGGTTGAAGGATCTCTATGTATGTGTGTATATAAATATAGTTTTTTATCTATA
TATATAAAATAGAGATCTATTTTTTTTCTGGAATTCTGTTAGAAAAGTAAAGAAAAAGCAAATGCTGTTGGTTTATCTCAGGGTGCCCAAAGTGGTTATAGTCAATTTTTGGTACTAGGAAAGGCACC
CAATGCATTTCCTGACTTTTAAGCATTTCCTTGTTGGAAGCAGCAGAGGGCCAGGCCAAGTTGCTGACAGTGACTTTGCAGGTTGAATAAAGAAACCCTTGGAGGGGAAGCAGGCTTGTCTGAAGCAG
CATGTATATTCACTGGGCATGTAGCTCCCACACCAGCCTTGAGCCAGGCCCTGGACAGGAGGGGCTGTTGCAGGATGAGGGAGGCCAGAGAAGGCATCGAAGCCAAGACCTGGGCCCACCTGGGGAGG
GATGTGGGAAAGGAAGGATGGGAGGGAGGACCCTCTGGGAAAATGTGGATTTGAGCTGGTGAGAGTGTTGCTAAGGCTGGGCTAAAGCCTGGAGAGGGTAGGAGGAGGCAAGAGGGGTCCAGGCAGGG
CTGATCCTGGCCTCTGACCTGTCCAGGGCGACCCCTGAAGCCCCTGCTGCCTCTGGGCATTGCTGGGAGAGGCCAAGGCAGGACTCACGTCTGAACAGAGATCCCCTCGGGCATTGCTGATGGGCCAC
CTTCAGCTGCAGGGAAGAAGCCTAGGAGAGGAGGCATGGGAGGGACCTGGGCCTTGTTCAGATTGGCCACCTCTGCTGAGAAGTCCATACCAGTACACCCCTAATAAGTTATGCCACATACCAACGTA
CTGTGGATATTATAACCTGCATTAAAACAACTCTAAAGAA

hide sequence

RefSeq Acc Id:

XM_024453013 ⟹ XP_024308781

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	46,998,765 - 47,076,123 (+)	NCBI

Sequence:

show sequence

TTGGAACTCAGGAGTGGCTGTGTGGTGTGGGGCTGCTACCTTGGATATGGTTTTTATTACAAGC
TGACTATGTGCGATCAGAATGAATGAGGGAGACCTTGTCTTTCAAGAGGCAACTCGAGATGTGGTGCTGAGCCGGGTGCCGGAGCAGGAGGAGGACCGGACAGTGAGCTTGCAGAATGCCGCAGCCAT
CTATGACCTCCTGAGCATCACGTTGGGCAGAAGGGGACAGTACGTCATGCTCTCGGAGTGCCTGGAGCGAGCCATGAAGTTTGCGTTTGGAGAATTTCACCTTTGGTACCAGGTGGCCCTCTCCATGG
TGGCTTGTGGGAAGTCAGCCTACGCTGTGTCCCTGCTGCGGGAGTGTGTGAAGTTGCGGCCCTCGGACCCCACCGTGCCCCTGATGGCCGCGAAGGTCTGCATCGGGTCCCTTCGCTGGCTAGAGGAA
GCAGAGCACTTTGCCATGATGGTGATCAGCCTCGGAGAGGAAGCCGGGGAGTTCCTCCCCAAGGGCTACCTGGCTCTGGGTCTCACCTATAGCCTGCAGGCCACCGACGCCACCCTGAAGTCCAAGCA
AGATGAATTGCACCGGAAGGCACTGCAGACGCTGGAGAGGGCTCAGCAGCTGGCGCCCAGTGACCCCCAGGTCATCCTCTATGTCTCGCTGCAGCTGGCCCTCGTCCGACAGATCTCCAGTGCCATGG
AGCAGCTGCAGGAGGCCCTGAAGGTACGCAAGGATGATGCCCACGCCCTCCACCTGCTGGCACTGCTCTTCTCTGCCCAGAAGCACCACCAGCATGCCCTGGATGTTGTCAACATGGCCATCACCGAG
CACCCTGAGAACTTCAACCTGATGTTCACCAAGGTGAAGCTGGAGCAGGTGCTGAAAGGCCCAGAGGAAGCCCTCGTGACCTGCAGACAAGTGCTGAGGCTGTGGCAGACCCTGTACAGCTTCTCCCA
GCTGGGAGGCCTAGAAAAGGATGGCAGCTTCGGTGAGGGCCTCACCATGAAGAAGCAGAGTGGCATGCACCTGACTTTGCCTGATGCCCATGATGCAGACTCTGGCTCCCGGCGGGCTTCGTCCATCG
CCGCCTCCCGGCTGGAGGAGGCCATGTCAGAGCTGACTATGCCCTCTTCGGTCCTGAAGCAGGGCCCCATGCAGCTGTGGACCACGCTGGAACAGATCTGGCTGCAGGCTGCTGAGCTGTTCATGGAG
CAGCAGCACCTCAAGGAAGCAGGTTTCTGCATCCAGGAGGCGGCGGGCCTCTTCCCCACTTCTCACTCAGTACTCTATATGCGGGGCCGGCTGGCTGAGGTGAAGGGCAACCTGGAGGAGGCCAAGCA
GCTGTACAAGGAGGCGCTCACGGTGAACCCAGATGGCGTGCGCATCATGCATAGCCTGGGTCTGATGCTGAGTCGGCTGGGCCACAAGAGCTTGGCCCAGAAGGTGCTTCGTGATGCCGTGGAGAGGC
AGAGTACGTGCCACGAGGCGTGGCAGGGCCTGGGCGAGGTGCTGCAGGCCCAGGGCCAGAACGAGGCTGCCGTTGACTGCTTCCTCACCGCCCTTGAGCTGGAGGCCAGCAGCCCTGTACTGCCCTTC
TCCATCATCCCCAGAGAGCTCTGACGACGCTGCAGCCGCAGGGAGGGAGGGGCTGGCCAGAGGGAGAGGCAGCAGGGAACGTGGGTCAGGGTGGGGCAACAGTGGCATCAGGTGCGGGGCCTCAGGGA
AATACATCTTTAGTGAACGCCTCTGCAGCTGCAGCCCTCGTTCTCTTGGCTGGGCCAAGAGGGCCTTCCTGGATTTCTTTGTTGGTGCCTTGGGAAACAGTCTGACTTGAACCCTAAGTGCCTTTGGA
GAGTTTTGTGGTGACCAGACTTGCTCCCCAAGAGCTGGGCAGCGGGGAGCCTCACAGCTGTCCTTCACCCTCACCCATGCCTCTGGCTTGGAGTCTGGGTGGGGGGTTCTCACTCCCCACTCTCAGCA
CAGTACAGACTTCTGGATCTCTCTCAGGTCTTGCCCAGGGCGGTCACAATGTGAAGAAACTGCGGGCAAGTGGGAAGACTATGAGATTTCTGGGTTCCCTTCTCAGACTTGGAGTTAGTAGATGATTC
CTGCATTGCCCCTGCTTGCCCTCTGAGACCAGCTGGGCCCCACCTTGCTCTTTCCCCCTGCTACCAAGTGCCTTTGGGGTCTGACCAGGGGTACTGAGCACCGGCCCTAACACTTCCATCTCCACCCA
CCCCATCTCCCTGGCGATGTGCTCCAGCCCAAGCAGCCTCCGTAGGCTTTAGATCCTGTGGTTGCTAGATCCAGTCCTTTCTAATACCCTGAGTCAACACATTACTCCTGCAGGTCTTAGGCTACAAT
GCAGGTCCCTTGAGGGCCACCAACATGGAGGTAGGCAGTTTCTAGGACTGTCCCCAGTACATCTCACCACCCACAGCCCTTTTTTTGCCTTGATTCGAGCCTCACCCTGGCCTTTTGGCTTCCCCTGC
CTGAGAGAGACCTGAGGAGGGGACAGAGCCCAGCCCCTCTCCTGTGGCTGAGCAGGCCTCTGTGTCCATGACACCTGTCTTCCGGGCCTGGGGGCTGTGGGTGTATGTCCTCCCTACTGGCTTCCCCG
GCCCCTGCTGCATGATGCTCTTGGAACTCTTCTCCAAGGAGTCAGTCCCCCAGGCCTATCAGGGGATCCTTTTGTATCTGCACTTTGGGTTTTAGTTTCAAAGCTCCATCAGGTACAGCTTGCATTTC
AGGATGTGTGGAAAGCTCGGGTGAGGGCTGCCCTGGTTCATCATAGCTCCACCTTCCTCGGAAGGAGTGGGCTGTTGGAGACCCCCCATCCATGGCACACTAGCTCAGCACTGCATTTCCCGAGATGA
TTCCCAAGACAGCTGGTGCCTCCTGGCTTTCCTGTGCCAGGCCAAGGGGCACCACAGAGGACCCTGGATCCTTTGCCTCTTCTTGGTTGAAGGATCTCTATGTATGTGTGTATATAAATATAGTTTTT
TATCTATATATATAAAATAGAGATCTATTTTTTTTCTGGAATTCTGTTAGAAAAGTAAAGAAAAAGCAAATGCTGTTGGTTTATCTCAGGGTGCCCAAAGTGGTTATAGTCAATTTTTGGTACTAGGA
AAGGCACCCAATGCATTTCCTGACTTTTAAGCATTTCCTTGTTGGAAGCAGCAGAGGGCCAGGCCAAGTTGCTGACAGTGACTTTGCAGGTTGAATAAAGAAACCCTTGGAGGGGAAGCAGGCTTGTC
TGAAGCAGCATGTATATTCACTGGGCATGTAGCTCCCACACCAGCCTTGAGCCAGGCCCTGGACAGGAGGGGCTGTTGCAGGATGAGGGAGGCCAGAGAAGGCATCGAAGCCAAGACCTGGGCCCACC
TGGGGAGGGATGTGGGAAAGGAAGGATGGGAGGGAGGACCCTCTGGGAAAATGTGGATTTGAGCTGGTGAGAGTGTTGCTAAGGCTGGGCTAAAGCCTGGAGAGGGTAGGAGGAGGCAAGAGGGGTCC
AGGCAGGGCTGATCCTGGCCTCTGACCTGTCCAGGGCGACCCCTGAAGCCCCTGCTGCCTCTGGGCATTGCTGGGAGAGGCCAAGGCAGGACTCACGTCTGAACAGAGATCCCCTCGGGCATTGCTGA
TGGGCCACCTTCAGCTGCAGGGAAGAAGCCTAGGAGAGGAGGCATGGGAGGGACCTGGGCCTTGTTCAGATTGGCCACCTCTGCTGAGAAGTCCATACCAGTACACCCCTAATAAGTTATGCCACATA
CCAACGTACTGTGGATATTATAACCTGCATTAAAACAACTCTAAAGAA

hide sequence

RefSeq Acc Id:

XM_047445145 ⟹ XP_047301101

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	46,956,839 - 47,076,123 (+)	NCBI

RefSeq Acc Id:

XM_047445146 ⟹ XP_047301102

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	46,941,224 - 47,076,123 (+)	NCBI

RefSeq Acc Id:

XM_047445147 ⟹ XP_047301103

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	46,941,224 - 47,046,237 (+)	NCBI

RefSeq Acc Id:

XM_047445148 ⟹ XP_047301104

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	46,916,486 - 47,076,123 (+)	NCBI

RefSeq Acc Id:

XM_047445149 ⟹ XP_047301105

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	46,941,224 - 47,046,368 (+)	NCBI

RefSeq Acc Id:

XM_047445150 ⟹ XP_047301106

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	46,941,224 - 47,024,328 (+)	NCBI

RefSeq Acc Id:

XM_054343089 ⟹ XP_054199064

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	46,946,000 - 47,080,920 (+)	NCBI

RefSeq Acc Id:

XM_054343090 ⟹ XP_054199065

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	46,949,934 - 47,080,920 (+)	NCBI

RefSeq Acc Id:

XM_054343091 ⟹ XP_054199066

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	46,946,000 - 47,080,920 (+)	NCBI

RefSeq Acc Id:

XM_054343092 ⟹ XP_054199067

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	46,961,616 - 47,080,920 (+)	NCBI

RefSeq Acc Id:

XM_054343093 ⟹ XP_054199068

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	46,946,000 - 47,080,920 (+)	NCBI

RefSeq Acc Id:

XM_054343094 ⟹ XP_054199069

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	46,946,000 - 47,056,035 (+)	NCBI

RefSeq Acc Id:

XM_054343095 ⟹ XP_054199070

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	46,946,000 - 47,051,026 (+)	NCBI

RefSeq Acc Id:

XM_054343096 ⟹ XP_054199071

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	46,921,260 - 47,080,920 (+)	NCBI

RefSeq Acc Id:

XM_054343097 ⟹ XP_054199072

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	46,946,000 - 47,051,157 (+)	NCBI

RefSeq Acc Id:

XM_054343098 ⟹ XP_054199073

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	46,982,625 - 47,080,920 (+)	NCBI

RefSeq Acc Id:

XM_054343099 ⟹ XP_054199074

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	47,003,554 - 47,080,920 (+)	NCBI

RefSeq Acc Id:

XM_054343100 ⟹ XP_054199075

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	47,010,024 - 47,080,920 (+)	NCBI

RefSeq Acc Id:

XM_054343101 ⟹ XP_054199076

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	46,946,000 - 47,029,117 (+)	NCBI

RefSeq Acc Id:

XR_007078570

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	46,941,224 - 47,060,827 (+)	NCBI

RefSeq Acc Id:

XR_008486460

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	46,946,000 - 47,065,619 (+)	NCBI


Protein RefSeqs	NP_001275880	(Get FASTA)	NCBI Sequence Viewer
	NP_001275882	(Get FASTA)	NCBI Sequence Viewer
	NP_001275884	(Get FASTA)	NCBI Sequence Viewer
	NP_065191	(Get FASTA)	NCBI Sequence Viewer
	XP_011531301	(Get FASTA)	NCBI Sequence Viewer
	XP_011531302	(Get FASTA)	NCBI Sequence Viewer
	XP_011531303	(Get FASTA)	NCBI Sequence Viewer
	XP_016860013	(Get FASTA)	NCBI Sequence Viewer
	XP_016860014	(Get FASTA)	NCBI Sequence Viewer
	XP_016860015	(Get FASTA)	NCBI Sequence Viewer
	XP_024308781	(Get FASTA)	NCBI Sequence Viewer
	XP_047301101	(Get FASTA)	NCBI Sequence Viewer
	XP_047301102	(Get FASTA)	NCBI Sequence Viewer
	XP_047301103	(Get FASTA)	NCBI Sequence Viewer
	XP_047301104	(Get FASTA)	NCBI Sequence Viewer
	XP_047301105	(Get FASTA)	NCBI Sequence Viewer
	XP_047301106	(Get FASTA)	NCBI Sequence Viewer
	XP_054199064	(Get FASTA)	NCBI Sequence Viewer
	XP_054199065	(Get FASTA)	NCBI Sequence Viewer
	XP_054199066	(Get FASTA)	NCBI Sequence Viewer
	XP_054199067	(Get FASTA)	NCBI Sequence Viewer
	XP_054199068	(Get FASTA)	NCBI Sequence Viewer
	XP_054199069	(Get FASTA)	NCBI Sequence Viewer
	XP_054199070	(Get FASTA)	NCBI Sequence Viewer
	XP_054199071	(Get FASTA)	NCBI Sequence Viewer
	XP_054199072	(Get FASTA)	NCBI Sequence Viewer
	XP_054199073	(Get FASTA)	NCBI Sequence Viewer
	XP_054199074	(Get FASTA)	NCBI Sequence Viewer
	XP_054199075	(Get FASTA)	NCBI Sequence Viewer
	XP_054199076	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH01978	(Get FASTA)	NCBI Sequence Viewer
	AAH27457	(Get FASTA)	NCBI Sequence Viewer
	AAH65554	(Get FASTA)	NCBI Sequence Viewer
	AAI11488	(Get FASTA)	NCBI Sequence Viewer
	AAI14366	(Get FASTA)	NCBI Sequence Viewer
	BAA86454	(Get FASTA)	NCBI Sequence Viewer
	BAG51719	(Get FASTA)	NCBI Sequence Viewer
	CAD39046	(Get FASTA)	NCBI Sequence Viewer
	EAX00226	(Get FASTA)	NCBI Sequence Viewer
	EAX00227	(Get FASTA)	NCBI Sequence Viewer
	EAX00228	(Get FASTA)	NCBI Sequence Viewer
	EAX00229	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000316699
	ENSP00000316699.5
	ENSP00000378320
	ENSP00000378320.2
	ENSP00000386307
GenBank Protein	Q9ULT0	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_065191 ⟸ NM_020458
- Peptide Label:	isoform 2
- UniProtKB:	Q8ND67 (UniProtKB/Swiss-Prot), Q6PIX4 (UniProtKB/Swiss-Prot), Q2T9J9 (UniProtKB/Swiss-Prot), Q9BUS3 (UniProtKB/Swiss-Prot), Q9ULT0 (UniProtKB/Swiss-Prot), B3KPK7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAAKGAHGSYLKVESELERCRAEGHWDRMPELVRQLQTLSMPGGGGNRRGSPSAAFTFPDTDDFGKLLLAEALLEQCLKENHAKIKDSMPLLEKNEPKMSEAKNYLSSILNHGRLSPQYMCEAMLILG KLHYVEGSYRDAISMYARAGIDDMSMENKPLYQMRLLSEAFVIKGLSLERLPNSIASRFRLTEREEEVITCFERASWIAQVFLQELEKTTNNSTSRHLKGCHPLDYELTYFLEAALQSAYVKNLKKGN IVKGMRELREVLRTVETKATQNFKVMAAKHLAGVLLHSLSEECYWSPLSHPLPEFMGKEESSFATQALRKPHLYEGDNLYCPKDNIEEALLLLLISESMATRDVVLSRVPEQEEDRTVSLQNAAAIYD LLSITLGRRGQYVMLSECLERAMKFAFGEFHLWYQVALSMVACGKSAYAVSLLRECVKLRPSDPTVPLMAAKVCIGSLRWLEEAEHFAMMVISLGEEAGEFLPKGYLALGLTYSLQATDATLKSKQDE LHRKALQTLERAQQLAPSDPQVILYVSLQLALVRQISSAMEQLQEALKVRKDDAHALHLLALLFSAQKHHQHALDVVNMAITEHPENFNLMFTKVKLEQVLKGPEEALVTCRQVLRLWQTLYSFSQLG GLEKDGSFGEGLTMKKQSGMHLTLPDAHDADSGSRRASSIAASRLEEAMSELTMPSSVLKQGPMQLWTTLEQIWLQAAELFMEQQHLKEAGFCIQEAAGLFPTSHSVLYMRGRLAEVKGNLEEAKQLY KEALTVNPDGVRIMHSLGLMLSRLGHKSLAQKVLRDAVERQSTCHEAWQGLGEVLQAQGQNEAAVDCFLTALELEASSPVLPFSIIPREL hide sequence

RefSeq Acc Id:	NP_001275882 ⟸ NM_001288953
- Peptide Label:	isoform 3
- UniProtKB:	B3KPK7 (UniProtKB/TrEMBL), G5E9G4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVPSSSRTPGFKQSSHHLRLPKCWDYRDDFGKLLLAEALLEQCLKENHAKIKDSMPLLEKNEPKMSEAKNYLSSILNHGRLSPQYMCEAMLILGKLHYVEGSYRDAISMYARAGIDDMSMENKPLYQM RLLSEAFVIKGLSLERLPNSIASRFRLTEREEEVITCFERASWIAQVFLQELEKTTNNSTSRHLKGCHPLDYELTYFLEAALQSAYVKNLKKGNIVKGMRELREVLRTVETKATQNFKVMAAKHLAGV LLHSLSEECYWSPLSHPLPEFMGKEESSFATQALRKPHLYEGDNLYCPKDNIEEALLLLLISESMATRDVVLSRVPEQEEDRTVSLQNAAAIYDLLSITLGRRGQYVMLSECLERAMKFAFGEFHLWY QVALSMVACGKSAYAVSLLRECVKLRPSDPTVPLMAAKVCIGSLRWLEEAEHFAMMVISLGEEAGEFLPKGYLALGLTYSLQATDATLKSKQDELHRKALQTLERAQQLAPSDPQVILYVSLQLALVR QISSAMEQLQEALKVRKDDAHALHLLALLFSAQKHHQHALDVVNMAITEHPENFNLMFTKVKLEQVLKGPEEALVTCRQVLRLWQTLYSFSQLGGLEKDGSFGEGLTMKKQSGMHLTLPDAHDADSGS RRASSIAASRLEEAMSELTMPSSVLKQGPMQLWTTLEQIWLQAAELFMEQQHLKEAGFCIQEAAGLFPTSHSVLYMRGRLAEVKGNLEEAKQLYKEALTVNPDGVRIMHSLGLMLSRLGHKSLAQKVL RDAVERQSTCHEAWQGLGEVLQAQGQNEAAVDCFLTALELEASSPVLPFSIIPREL hide sequence

RefSeq Acc Id:	NP_001275880 ⟸ NM_001288951
- Peptide Label:	isoform 1
- UniProtKB:	B3KPK7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAAKGAHGSYLKVESELERCRAEGHWDRMPELVRQLQTLSMPGGGGNRRGSPSAAFTFPDTDDF GKLLLAEALLEQCLKENHAKIKDSMPLLEKNEPKMSEAKNYLSSILNHGRLSPQYMCEAMLILGKLHYVEGSYRDAISMYARAGIDDMSMENKPLYQMRLLSEAFVIKGLSLERLPNSIASRFRLTER EEEVITCFERASWIAQVFLQELEKTTNNSTSRHLKGCHPLDYELTYFLEAALQSAYVKNLKKGNIVKGMRELREVLRTVETKATQNFKVMAAKHLAGVLLHSLSEECYWSPLSHPLPEFMGKEESSFA TQALRKPHLYEGDNLYCPKDNIEEALLLLLISESMATRDVVLSRVPEQEEDRTVSLQNAAAIYDLLSITLGRRGQYVMLSECLERAMKFAFGEFHLWYQVALSMVACGKSAYAVSLLRECVKLRPSDP TVPLMAAKVCIGSLRWLEEAEHFAMMVISLGEEAGEFLPKGYLALGLTYSLQATDATLKSKQDELHRKALQTLERAQQLAPSDPQVILYVSLQLALVRQISSAMEQLQEALKVRKDDAHALHLLALLF SAQKHHQHALDVVNMAITEHPENFNLMFTKVKLEQVLKGPEEALVTCRQVLRLWQTLYSFSQLGDFRSPEGFQTPQRNICNSEIYRGGGLEKDGSFGEGLTMKKQSGMHLTLPDAHDADSGSRRASSI AASRLEEAMSELTMPSSVLKQGPMQLWTTLEQIWLQAAELFMEQQHLKEAGFCIQEAAGLFPTSHSVLYMRGRLAEVKGNLEEAKQLYKEALTVNPDGVRIMHSLGLMLSRLGHKSLAQKVLRDAVER QSTCHEAWQGLGEVLQAQGQNEAAVDCFLTALELEASSPVLPFSIIPREL hide sequence

RefSeq Acc Id:	NP_001275884 ⟸ NM_001288955
- Peptide Label:	isoform 4
- UniProtKB:	I6L9J2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MATRDVVLSRVPEQEEDRTVSLQNAAAIYDLLSITLGRRGQYVMLSECLERAMKFAFGEFHLWY QVALSMVACGKSAYAVSLLRECVKLRPSDPTVPLMAAKVCIGSLRWLEEAEHFAMMVISLGEEAGEFLPKGYLALGLTYSLQATDATLKSKQDELHRKALQTLERAQQLAPSDPQVILYVSLQLALVR QISSAMEQLQEALKVRKDDAHALHLLALLFSAQKHHQHALDVVNMAITEHPENFNLMFTKVKLEQVLKGPEEALVTCRQVLRLWQTLYSFSQLGGLEKDGSFGEGLTMKKQSGMHLTLPDAHDADSGS RRASSIAASRLEEAMSELTMPSSVLKQGPMQLWTTLEQIWLQAAELFMEQQHLKEAGFCIQEAAGLFPTSHSVLYMRGRLAEVKGNLEEAKQLYKEALTVNPDGVRIMHSLGLMLSRLGHKSLAQKVL RDAVERQSTCHEAWQGLGEVLQAQGQNEAAVDCFLTALELEASSPVLPFSIIPREL hide sequence

RefSeq Acc Id:

XP_011531301 ⟸ XM_011532999

- Peptide Label:

isoform X6

- Sequence:

show sequence

MAAKGAHGSYLKVESELERCRAEGHWDRMPELVRQLQTLSMPGGGGNRRGSPSAAFTFPDTDDF
GKLLLAEALLEQCLKENHAKIKDSMPLLEKNEPKMSEAKNYLSSILNHGRLSPQYMCEAMLILGKLHYVEGSYRDAISMYARAGIDDMSMENKPLYQMRLLSEAFVIKGLSLERLPNSIASRFRLTER
EEEVITCFERASWIAQVFLQELEKTTNNSTSRHLKGCHPLDYELTYFLEAALQSAYVKNLKKGNIVKGMRELREVLRTVETKATQNFKVMAAKHLAGVLLHSLSEECYWSPLSHPLPEFMGKEESSFA
TQALRKPHLYEGDNLYCPKDNIEEALLLLLISESMATRDVVLSRVPEQEEDRTVSLQNAAAIYDLLSITLGRRGQYVMLSECLERAMKFAFGEFHLWYQVALSMVACGKSAYAVSLLRECVKLRPSDP
TVPLMAAKVCIGSLRWLEEAEHFAMMVISLGEEAGEFLPKGYLALGLTYSLQATDATLKSKQDELHRKALQTLERAQQLAPSDPQVILYVSLQLALVRQISSAMEQLQEALKVRKDDAHALHLLALLF
SAQKHHQHALDVVNMAITEHPENFNLMFTKVKLEQVLKGPEEALVTCRQVLRLWQTLYSFSQLGGLEKDGSFGEGLTMKKQSGMHLTLPDAHDADSGSSQRPQST

hide sequence

Protein Domains

Tetratricopeptide repeat protein 7 N-terminal

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9ULT0-F1-model_v2	AlphaFold	Q9ULT0	1-858	view protein structure

RGD ID:

6860246

Promoter ID:

EPDNEW_H3288

Type:

initiation region

Name:

TTC7A_4

Description:

tetratricopeptide repeat domain 7A

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H3286 EPDNEW_H3289 EPDNEW_H3290

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	46,916,152 - 46,916,212	EPDNEW

RGD ID:

6860248

Promoter ID:

EPDNEW_H3289

Type:

initiation region

Name:

TTC7A_1

Description:

tetratricopeptide repeat domain 7A

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H3286 EPDNEW_H3288 EPDNEW_H3290

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	46,941,229 - 46,941,289	EPDNEW

RGD ID:

6860250

Promoter ID:

EPDNEW_H3290

Type:

initiation region

Name:

TTC7A_3

Description:

tetratricopeptide repeat domain 7A

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H3286 EPDNEW_H3288 EPDNEW_H3289

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	46,941,502 - 46,941,562	EPDNEW

RGD ID:

6798386

Promoter ID:

HG_KWN:32536

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

ENST00000263737, NM_020458, UC002RVN.1, UC010FBB.1, UC010FBC.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	47,020,911 - 47,021,997 (+)	MPROMDB

RGD ID:

6798364

Promoter ID:

HG_KWN:32539

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

OTTHUMT00000329705, UC002RVQ.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	47,058,781 - 47,059,542 (+)	MPROMDB

RGD ID:

6798371

Promoter ID:

HG_KWN:32541

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

OTTHUMT00000329706

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	47,086,331 - 47,086,831 (+)	MPROMDB

RGD ID:

6798372

Promoter ID:

HG_KWN:32542

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

OTTHUMT00000329707

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	47,114,671 - 47,115,171 (+)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	TTC7A	COSMIC
Ensembl Genes	ENSG00000068724	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000319190	ENTREZGENE
	ENST00000319190.11	UniProtKB/Swiss-Prot
	ENST00000394850	ENTREZGENE
	ENST00000394850.6	UniProtKB/Swiss-Prot
	ENST00000409245	ENTREZGENE
	ENST00000491786	ENTREZGENE
	ENST00000651415	ENTREZGENE
Gene3D-CATH	1.25.40.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000068724	GTEx
HGNC ID	HGNC:19750	ENTREZGENE
Human Proteome Map	TTC7A	Human Proteome Map
InterPro	Endocytosis_PI4K-reg_protein	UniProtKB/Swiss-Prot
	TPR-like_helical_dom_sf	UniProtKB/Swiss-Prot
	TPR_repeat	UniProtKB/Swiss-Prot
	TTC7_N	UniProtKB/Swiss-Prot
KEGG Report	hsa:57217	UniProtKB/Swiss-Prot
NCBI Gene	57217	ENTREZGENE
OMIM	609332	OMIM
PANTHER	PTHR23083:SF475	UniProtKB/Swiss-Prot
	TETRATRICOPEPTIDE REPEAT PROTEIN, TPR	UniProtKB/Swiss-Prot
Pfam	TPR_8	UniProtKB/Swiss-Prot
	TTC7_N	UniProtKB/Swiss-Prot
PharmGKB	PA134993362	PharmGKB
PROSITE	TPR	UniProtKB/Swiss-Prot
	TPR_REGION	UniProtKB/Swiss-Prot
SMART	TPR	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF48452	UniProtKB/Swiss-Prot
UniProt	A0A8V8TMV0_HUMAN	UniProtKB/TrEMBL
	B3KPK7	ENTREZGENE, UniProtKB/TrEMBL
	G5E9G4	ENTREZGENE, UniProtKB/TrEMBL
	H0Y3V7_HUMAN	UniProtKB/TrEMBL
	H7C055_HUMAN	UniProtKB/TrEMBL
	H7C1P2_HUMAN	UniProtKB/TrEMBL
	I6L9J2	ENTREZGENE, UniProtKB/TrEMBL
	Q2T9J9	ENTREZGENE
	Q6P0M3	ENTREZGENE, UniProtKB/TrEMBL
	Q6PIX4	ENTREZGENE
	Q8ND67	ENTREZGENE
	Q9BUS3	ENTREZGENE
	Q9ULT0	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	Q2T9J9	UniProtKB/Swiss-Prot
	Q6PIX4	UniProtKB/Swiss-Prot
	Q8ND67	UniProtKB/Swiss-Prot
	Q9BUS3	UniProtKB/Swiss-Prot

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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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