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Gene: QRICH1 (glutamine rich 1) Homo sapiens

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Symbol:

QRICH1

Name:

glutamine rich 1

RGD ID:

1606541

HGNC Page

HGNC:24713

Description:

Enables DNA binding activity. Involved in intracellular signal transduction; positive regulation of DNA-templated transcription; and positive regulation of apoptotic process. Located in nucleus.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

AB-DIP; FLJ20259; glutamine-rich 1; glutamine-rich protein 1; MGC131838; transcriptional regulator QRICH1; VERBRAS

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):	Qrich1 (glutamine-rich 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Qrich1 (glutamine-rich 1)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Qrich1 (glutamine rich 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	QRICH1 (glutamine rich 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	QRICH1 (glutamine rich 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Qrich1 (glutamine rich 1)	NCBI	Ortholog
Sus scrofa (pig):	IMPDH2 (inosine monophosphate dehydrogenase 2)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	QRICH1 (glutamine rich 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Qrich1 (glutamine rich 1)	NCBI	Ortholog
Other homologs ²
Sus scrofa (pig):	IMPDH2 (inosine monophosphate dehydrogenase 2)	HGNC	OMA, Panther
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Qrich1 (glutamine-rich 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Qrich1 (glutamine-rich 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	qrich1 (glutamine-rich 1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	woc	Alliance	DIOPT (OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus tropicalis (tropical clawed frog):	qrich1l	Alliance	DIOPT (Ensembl Compara\|OrthoInspector)
Xenopus tropicalis (tropical clawed frog):	qrich1	Alliance	DIOPT (OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	qrich1.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	qrich1l.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	qrich1l.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	qrich1.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	znf160	Alliance	DIOPT (Ensembl Compara\|OrthoInspector)

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	3	49,029,707 - 49,094,373 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	49,029,707 - 49,094,363 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	49,067,140 - 49,131,806 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	49,042,146 - 49,106,508 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	3	49,023,864 - 49,088,466 (-)	NCBI		Celera
Cytogenetic Map	3	p21.31	NCBI
HuRef	3	49,125,007 - 49,190,034 (-)	NCBI		HuRef
CHM1_1	3	49,019,703 - 49,084,299 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	3	49,057,747 - 49,122,441 (-)	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)
QRICH1	Human	Aicardi-Goutieres Syndrome 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1	ClinVar	PMID:16845398 and PMID:28492532
QRICH1	Human	autism spectrum disorder		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism spectrum disorder	ClinVar	PMID:25741868
QRICH1	Human	autosomal recessive limb-girdle muscular dystrophy type 2P		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P	ClinVar	PMID:20234391 more ...
QRICH1	Human	carnitine-acylcarnitine translocase deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency	ClinVar	PMID:20234391 more ...
QRICH1	Human	carnitine-acylcarnitine translocase deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency	ClinVar	PMID:25614308 and PMID:28492532
QRICH1	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 and PMID:34859529
QRICH1	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
QRICH1	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:27694994 and PMID:28492532
QRICH1	Human	intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868 more ...
QRICH1	Human	intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability and mild	ClinVar	PMID:25741868 more ...
QRICH1	Human	intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868 and PMID:34859529
QRICH1	Human	Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Microcephaly more ...	ClinVar	PMID:28492532
QRICH1	Human	VERVERI-BRADY SYNDROME		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Ververi-Brady syndrome	ClinVar	PMID:25741868
QRICH1	Human	VERVERI-BRADY SYNDROME		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Ververi-Brady syndrome	ClinVar	PMID:25741868 more ...
QRICH1	Human	VERVERI-BRADY SYNDROME		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Ververi-Brady syndrome	ClinVar	PMID:25741868 and PMID:34859529
QRICH1	Human	VERVERI-BRADY SYNDROME		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar
QRICH1	Human	VERVERI-BRADY SYNDROME		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: QRICH1-related condition	ClinVar	PMID:25741868 and PMID:28492532
QRICH1	Human	VERVERI-BRADY SYNDROME		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ververi-Brady syndrome	ClinVar	PMID:25741868 more ...
QRICH1	Human	VERVERI-BRADY SYNDROME		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ververi-Brady syndrome	ClinVar	PMID:25741868 more ...
QRICH1	Human	VERVERI-BRADY SYNDROME		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ververi-Brady syndrome	ClinVar	PMID:25741868 more ...
QRICH1	Human	VERVERI-BRADY SYNDROME		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ververi-Brady syndrome	ClinVar	PMID:28692176 and PMID:30281152

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
QRICH1	Human	VERVERI-BRADY SYNDROME		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)
QRICH1	Human	1,2-dimethylhydrazine	affects expression	ISO	Qrich1 (Mus musculus)	6480464	1 and 2-Dimethylhydrazine affects the expression of QRICH1 mRNA	CTD	PMID:22206623
QRICH1	Human	1,2-dimethylhydrazine	multiple interactions	ISO	Qrich1 (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of QRICH1 mRNA	CTD	PMID:22206623
QRICH1	Human	17beta-estradiol	increases expression	ISO	Qrich1 (Mus musculus)	6480464	Estradiol results in increased expression of QRICH1 mRNA	CTD	PMID:39298647
QRICH1	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Qrich1 (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of QRICH1 mRNA	CTD	PMID:21570461
QRICH1	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Qrich1 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of QRICH1 mRNA	CTD	PMID:33387578
QRICH1	Human	4,4'-diaminodiphenylmethane	increases expression	ISO	Qrich1 (Mus musculus)	6480464	4 and 4'-diaminodiphenylmethane results in increased expression of QRICH1 mRNA	CTD	PMID:18648102
QRICH1	Human	aflatoxin B1	increases methylation	EXP		6480464	Aflatoxin B1 results in increased methylation of QRICH1 gene	CTD	PMID:27153756
QRICH1	Human	amitrole	decreases expression	ISO	Qrich1 (Rattus norvegicus)	6480464	Amitrole results in decreased expression of QRICH1 mRNA	CTD	PMID:38685447
QRICH1	Human	aristolochic acid A	decreases expression	EXP		6480464	aristolochic acid I results in decreased expression of QRICH1 mRNA	CTD	PMID:33212167
QRICH1	Human	Aroclor 1254	decreases expression	ISO	Qrich1 (Mus musculus)	6480464	Chlorodiphenyl (54% Chlorine) results in decreased expression of QRICH1 mRNA	CTD	PMID:23650126
QRICH1	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of QRICH1 3' UTR	CTD	PMID:27901495
QRICH1	Human	benzo[a]pyrene diol epoxide I	decreases expression	EXP		6480464	7 more ...	CTD	PMID:19150397
QRICH1	Human	bis(2-ethylhexyl) phthalate	increases expression	ISO	Qrich1 (Mus musculus)	6480464	Diethylhexyl Phthalate results in increased expression of QRICH1 mRNA	CTD	PMID:33754040
QRICH1	Human	bisphenol A	affects expression	ISO	Qrich1 (Rattus norvegicus)	6480464	bisphenol A affects the expression of QRICH1 mRNA	CTD	PMID:25181051
QRICH1	Human	bisphenol A	decreases expression	ISO	Qrich1 (Mus musculus)	6480464	bisphenol A results in decreased expression of QRICH1 mRNA	CTD	PMID:33221593
QRICH1	Human	cadmium atom	multiple interactions	EXP		6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of QRICH1 mRNA	CTD	PMID:35301059
QRICH1	Human	cadmium dichloride	multiple interactions	EXP		6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of QRICH1 mRNA	CTD	PMID:35301059
QRICH1	Human	chloroprene	increases expression	ISO	Qrich1 (Rattus norvegicus)	6480464	Chloroprene results in increased expression of QRICH1 mRNA	CTD	PMID:23125180
QRICH1	Human	diazinon	increases methylation	EXP		6480464	Diazinon results in increased methylation of QRICH1 gene	CTD	PMID:22964155
QRICH1	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of QRICH1 mRNA	CTD	PMID:37042841
QRICH1	Human	enzyme inhibitor	multiple interactions	EXP		6480464	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of QRICH1 protein	CTD	PMID:23301498
QRICH1	Human	ethanol	affects splicing	ISO	Qrich1 (Mus musculus)	6480464	Ethanol affects the splicing of QRICH1 mRNA	CTD	PMID:30319688
QRICH1	Human	folic acid	decreases expression	ISO	Qrich1 (Mus musculus)	6480464	Folic Acid results in decreased expression of QRICH1 mRNA	CTD	PMID:25629700
QRICH1	Human	folic acid	multiple interactions	ISO	Qrich1 (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of QRICH1 mRNA	CTD	PMID:22206623
QRICH1	Human	genistein	multiple interactions	EXP		6480464	Genistein inhibits the reaction [Nocodazole results in increased phosphorylation of QRICH1 protein]	CTD	PMID:17510977
QRICH1	Human	indole-3-methanol	affects expression	ISO	Qrich1 (Rattus norvegicus)	6480464	indole-3-carbinol affects the expression of QRICH1 mRNA	CTD	PMID:21396975
QRICH1	Human	isobutanol	multiple interactions	EXP		6480464	[[Gasoline co-treated with isobutyl alcohol] results in increased abundance of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of QRICH1 mRNA	CTD	PMID:29432896
QRICH1	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of QRICH1 protein	CTD	PMID:32959892
QRICH1	Human	methimazole	decreases expression	ISO	Qrich1 (Rattus norvegicus)	6480464	Methimazole results in decreased expression of QRICH1 mRNA	CTD	PMID:38685447
QRICH1	Human	N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine	decreases expression	EXP		6480464	N more ...	CTD	PMID:12756304
QRICH1	Human	nocodazole	multiple interactions	EXP		6480464	Genistein inhibits the reaction [Nocodazole results in increased phosphorylation of QRICH1 protein]	CTD	PMID:17510977
QRICH1	Human	nocodazole	increases phosphorylation	EXP		6480464	Nocodazole results in increased phosphorylation of QRICH1 protein	CTD	PMID:17510977
QRICH1	Human	ozone	multiple interactions	EXP		6480464	[Air Pollutants results in increased abundance of Ozone] which affects the expression of QRICH1 mRNA	CTD	PMID:35430440
QRICH1	Human	paclitaxel	increases phosphorylation	EXP		6480464	Paclitaxel results in increased phosphorylation of QRICH1 protein	CTD	PMID:17510977
QRICH1	Human	paracetamol	affects expression	ISO	Qrich1 (Mus musculus)	6480464	Acetaminophen affects the expression of QRICH1 mRNA	CTD	PMID:17562736
QRICH1	Human	paracetamol	decreases expression	ISO	Qrich1 (Rattus norvegicus)	6480464	Acetaminophen results in decreased expression of QRICH1 mRNA	CTD	PMID:33387578
QRICH1	Human	silver atom	decreases expression	ISO	Qrich1 (Mus musculus)	6480464	Silver results in decreased expression of QRICH1 mRNA	CTD	PMID:27131904
QRICH1	Human	silver(0)	decreases expression	ISO	Qrich1 (Mus musculus)	6480464	Silver results in decreased expression of QRICH1 mRNA	CTD	PMID:27131904
QRICH1	Human	titanium dioxide	decreases methylation	ISO	Qrich1 (Mus musculus)	6480464	titanium dioxide results in decreased methylation of QRICH1 gene and titanium dioxide results in decreased methylation of QRICH1 promoter	CTD	PMID:35295148
QRICH1	Human	trichostatin A	affects expression	EXP		6480464	trichostatin A affects the expression of QRICH1 mRNA	CTD	PMID:28542535
QRICH1	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of QRICH1 mRNA	CTD	PMID:37042841
QRICH1	Human	triptonide	increases expression	ISO	Qrich1 (Mus musculus)	6480464	triptonide results in increased expression of QRICH1 mRNA	CTD	PMID:33045310
QRICH1	Human	triticonazole	decreases expression	ISO	Qrich1 (Rattus norvegicus)	6480464	triticonazole results in decreased expression of QRICH1 mRNA	CTD	PMID:36084822
QRICH1	Human	tungsten	decreases expression	ISO	Qrich1 (Mus musculus)	6480464	Tungsten results in decreased expression of QRICH1 mRNA	CTD	PMID:30912803
QRICH1	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of QRICH1 gene	CTD	PMID:29154799
QRICH1	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of QRICH1 mRNA	CTD	PMID:25979313
QRICH1	Human	valproic acid	affects expression	ISO	Qrich1 (Mus musculus)	6480464	Valproic Acid affects the expression of QRICH1 mRNA	CTD	PMID:17292431
QRICH1	Human	vincaleukoblastine	increases phosphorylation	EXP		6480464	Vinblastine results in increased phosphorylation of QRICH1 protein	CTD	PMID:17510977
QRICH1	Human	vincristine	increases phosphorylation	EXP		6480464	Vincristine results in increased phosphorylation of QRICH1 protein	CTD	PMID:17510977

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)
QRICH1	Human	endoplasmic reticulum unfolded protein response	involved_in	IMP		150520179	PMID:33384352	UniProt	PMID:33384352
QRICH1	Human	integrated stress response signaling	involved_in	IMP		150520179	PMID:33384352	UniProt	PMID:33384352
QRICH1	Human	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	involved_in	IMP		150520179	PMID:33384352	UniProt	PMID:33384352
QRICH1	Human	kidney development	acts_upstream_of_or_within	ISO	MGI:5554436	9068941	PMID:27002738	MGI	PMID:27002738
QRICH1	Human	PERK-mediated unfolded protein response	involved_in	IMP		150520179	PMID:33384352	UniProt	PMID:33384352
QRICH1	Human	positive regulation of apoptotic process	involved_in	IMP		150520179	PMID:33384352	UniProt	PMID:33384352
QRICH1	Human	positive regulation of DNA-templated transcription	involved_in	IMP		150520179	PMID:33384352	UniProt	PMID:33384352
QRICH1	Human	regulation of apoptotic process	involved_in	IEA	InterPro:IPR001315	150520179		InterPro	GO_REF:0000002
QRICH1	Human	response to endoplasmic reticulum stress	involved_in	IMP		150520179	PMID:33384352	UniProt	PMID:33384352
QRICH1	Human	response to unfolded protein	involved_in	IEA	UniProtKB-KW:KW-0834	150520179		UniProt	GO_REF:0000043

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)
QRICH1	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
QRICH1	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
QRICH1	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
QRICH1	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
QRICH1	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
QRICH1	Human	nucleus	located_in	IDA		150520179	PMID:33384352	UniProt	PMID:33384352
QRICH1	Human	plasma membrane	located_in	IEA	UniProtKB-KW:KW-1003	150520179		UniProt	GO_REF:0000043
QRICH1	Human	plasma membrane	located_in	IEA	UniProtKB-SubCell:SL-0039	150520179		UniProt	GO_REF:0000044

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)
QRICH1	Human	DNA binding	enables	IMP		150520179	PMID:33384352	UniProt	PMID:33384352
QRICH1	Human	protein binding	enables	IPI	UniProtKB:P49903 more ...	150520179	PMID:33961781	IntAct	PMID:33961781
QRICH1	Human	protein binding	enables	IPI	UniProtKB:A7E2Y1-2 more ...	150520179	PMID:32296183	IntAct	PMID:32296183
QRICH1	Human	protein binding	enables	IPI	UniProtKB:O43186 more ...	150520179	PMID:25416956	IntAct	PMID:25416956
QRICH1	Human	protein binding	enables	IPI	UniProtKB:Q96I25	150520179	PMID:31515488	IntAct	PMID:31515488
QRICH1	Human	protein binding	enables	IPI	UniProtKB:Q7Z3K3 and UniProtKB:Q96IK5	150520179	PMID:27107012	IntAct	PMID:27107012

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
QRICH1	Human	Autistic behavior		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Autosomal dominant inheritance		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Broad nasal tip		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Bulbous nose		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Clinodactyly of the 5th finger		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Congenital onset		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Cupped ear		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Delayed skeletal maturation		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Delayed speech and language development		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Everted lower lip vermilion		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Feeding difficulties		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	High palate		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Hypertelorism		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Hyporeflexia		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Hypotonia		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Intellectual disability		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Intention tremor		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Intrauterine growth retardation		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Low-set ears		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Macrotia		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Metaphyseal irregularity		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Microcephaly		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Mildly elevated creatine kinase		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Motor delay		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Prominent nose		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Ptosis		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Scoliosis		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Short stature		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Single umbilical artery		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Smooth philtrum		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Thin upper lip vermilion		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Transposition of the great arteries		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Unsteady gait		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Upslanted palpebral fissure		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Wide mouth		IAGP		8699517		HPO	MIM:617982
QRICH1	Human	Wide nose		IAGP		8699517		HPO	MIM:617982

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
QRICH1	Human	Autistic behavior		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism spectrum disorder	ClinVar	PMID:25741868
QRICH1	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868 more ...
QRICH1	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868 and PMID:34859529
QRICH1	Human	Intellectual disability, mild		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability and mild	ClinVar	PMID:25741868 more ...

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:12477932	PMID:14702039	PMID:15231748	PMID:15489334	PMID:15923395	PMID:16344560	PMID:16713569	PMID:21873635	PMID:22658674	PMID:22863883	PMID:24453475	PMID:24705354
PMID:25416956	PMID:25609649	PMID:25921289	PMID:26186194	PMID:26949251	PMID:26972000	PMID:27107012	PMID:28514442	PMID:28692176	PMID:29509190	PMID:29656893	PMID:30021884
PMID:30281152	PMID:30884312	PMID:31073040	PMID:31515488	PMID:31617661	PMID:32296183	PMID:32344865	PMID:32416067	PMID:32694731	PMID:33009816	PMID:33226137	PMID:33384352
PMID:33738978	PMID:33961781	PMID:34189442	PMID:34687317	PMID:34795231	PMID:34859529	PMID:35013556	PMID:35256949	PMID:35271311	PMID:35439318	PMID:35831314	PMID:35914814
PMID:36215168	PMID:36949045	PMID:37223481	PMID:37331002	PMID:37689310	PMID:37704626	PMID:37788672	PMID:37827155	PMID:39227586

QRICH1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	3	49,029,707 - 49,094,373 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	49,029,707 - 49,094,363 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	49,067,140 - 49,131,806 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	49,042,146 - 49,106,508 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	3	49,023,864 - 49,088,466 (-)	NCBI		Celera
Cytogenetic Map	3	p21.31	NCBI
HuRef	3	49,125,007 - 49,190,034 (-)	NCBI		HuRef
CHM1_1	3	49,019,703 - 49,084,299 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	3	49,057,747 - 49,122,441 (-)	NCBI		T2T-CHM13v2.0

Qrich1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	9	108,394,010 - 108,437,366 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	9	108,394,005 - 108,437,362 (+)	Ensembl		GRCm39 Ensembl
GRCm38	9	108,516,982 - 108,560,167 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	9	108,516,806 - 108,560,163 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	9	108,419,418 - 108,462,498 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	9	108,375,206 - 108,403,439 (+)	NCBI		MGSCv36	mm8
Celera	9	108,126,784 - 108,171,369 (+)	NCBI		Celera
Cytogenetic Map	9	F2	NCBI
cM Map	9	59.45	NCBI

Qrich1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	8	118,095,435 - 118,135,001 (+)	NCBI		GRCr8
mRatBN7.2	8	109,216,900 - 109,256,472 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	8	109,217,376 - 109,261,359 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	8	114,835,711 - 114,874,722 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	8	113,035,043 - 113,074,056 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	8	110,877,683 - 110,916,696 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	8	117,305,803 - 117,346,738 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	8	117,307,339 - 117,346,736 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	8	116,650,497 - 116,691,241 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	8	113,564,863 - 113,606,732 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	8	113,595,328 - 113,614,144 (+)	NCBI
Celera	8	108,513,880 - 108,552,244 (+)	NCBI		Celera
Cytogenetic Map	8	q32	NCBI

Qrich1
(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_004955532	1,052,174 - 1,091,449 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955532	1,052,174 - 1,092,211 (-)	NCBI	ChiLan1.0	ChiLan1.0

QRICH1
(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	2	49,008,529 - 49,072,921 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	3	49,013,297 - 49,077,676 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	3	48,954,345 - 49,018,745 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	3	50,035,676 - 50,098,667 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	3	50,035,676 - 50,097,596 (-)	Ensembl	panpan1.1		panPan2

QRICH1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	20	40,086,141 - 40,135,810 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	20	40,097,149 - 40,135,140 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	20	40,004,483 - 40,053,996 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	20	40,443,202 - 40,492,987 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	20	40,443,208 - 40,493,037 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	20	39,810,050 - 39,859,593 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	20	40,213,555 - 40,263,420 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	20	40,493,861 - 40,542,932 (+)	NCBI		UU_Cfam_GSD_1.0

Qrich1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405602	63,993,345 - 64,041,171 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936529	753,844 - 801,861 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936529	753,842 - 802,405 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

IMPDH2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	13	31,658,642 - 31,714,455 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	13	31,663,812 - 31,714,523 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	13	34,906,818 - 34,956,134 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

QRICH1
(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	22	10,430,015 - 10,496,127 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	22	10,430,774 - 10,478,690 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666041	156,585,427 - 156,652,252 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Qrich1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624730	3,076,106 - 3,123,002 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in QRICH1
165 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_017730.2(QRICH1):c.1338+4611G>T	single nucleotide variant	Lung cancer [RCV000093590]	Chr3:49052251 [GRCh38] Chr3:49089684 [GRCh37] Chr3:3p21.31	uncertain significance
GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	copy number gain	See cases [RCV000133650]	Chr3:45879883..50749922 [GRCh38] Chr3:45921375..50787353 [GRCh37] Chr3:45896379..50762357 [NCBI36] Chr3:3p21.31-21.2	pathogenic
NM_198880.3(QRICH1):c.851C>T (p.Pro284Leu)	single nucleotide variant	Ververi-Brady syndrome [RCV001332178]	Chr3:49057349 [GRCh38] Chr3:49094782 [GRCh37] Chr3:3p21.31	conflicting interpretations of pathogenicity\|uncertain significance
GRCh38/hg38 3p21.31(chr3:48950685-49171381)x4	copy number gain	See cases [RCV000143510]	Chr3:48950685..49171381 [GRCh38] Chr3:48988118..49208814 [GRCh37] Chr3:48963122..49183818 [NCBI36] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.914dup (p.Gly306fs)	duplication	Intellectual disability [RCV001526610]\|Ververi-Brady syndrome [RCV001799766]	Chr3:49057285..49057286 [GRCh38] Chr3:49094718..49094719 [GRCh37] Chr3:3p21.31	likely pathogenic
GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	copy number gain	See cases [RCV000240519]	Chr3:37028313..49929220 [GRCh37] Chr3:3p22.2-21.31	likely pathogenic
NM_198880.3(QRICH1):c.1414T>G (p.Ser472Ala)	single nucleotide variant	not provided [RCV003239044]	Chr3:49047171 [GRCh38] Chr3:49084604 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1355T>C (p.Val452Ala)	single nucleotide variant	not provided [RCV002284686]	Chr3:49047230 [GRCh38] Chr3:49084663 [GRCh37] Chr3:3p21.31	uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	copy number gain	See cases [RCV000511055]	Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29	pathogenic
NM_198880.3(QRICH1):c.1807G>C (p.Val603Leu)	single nucleotide variant	not provided [RCV003327848]	Chr3:49033208 [GRCh38] Chr3:49070641 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.250G>A (p.Val84Ile)	single nucleotide variant	Inborn genetic diseases [RCV003285104]	Chr3:49076768 [GRCh38] Chr3:49114201 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.138_139delinsTT (p.Gln46_Gln47delinsHisTer)	indel	Ververi-Brady syndrome [RCV000627086]	Chr3:49076879..49076880 [GRCh38] Chr3:49114312..49114313 [GRCh37] Chr3:3p21.31	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	copy number gain	See cases [RCV000512358]	Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29	pathogenic
NM_198880.3(QRICH1):c.1954C>T (p.Arg652Ter)	single nucleotide variant	Intellectual disability [RCV001194662]\|Ververi-Brady syndrome [RCV000627084]\|not provided [RCV002225697]	Chr3:49032715 [GRCh38] Chr3:49070148 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1953dup (p.Arg652fs)	duplication	Ververi-Brady syndrome [RCV000627085]	Chr3:49032715..49032716 [GRCh38] Chr3:49070148..49070149 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1378C>T (p.Gln460Ter)	single nucleotide variant	Ververi-Brady syndrome [RCV000708566]	Chr3:49047207 [GRCh38] Chr3:49084640 [GRCh37] Chr3:3p21.31	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3	copy number gain	not provided [RCV000742138]	Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3	copy number gain	not provided [RCV000742133]	Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29	pathogenic
NM_198880.3(QRICH1):c.1585dup (p.Cys529fs)	duplication	Ververi-Brady syndrome [RCV001554342]	Chr3:49046510..49046511 [GRCh38] Chr3:49083943..49083944 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1606C>T (p.Arg536Ter)	single nucleotide variant	Ververi-Brady syndrome [RCV000761208]\|not provided [RCV001592947]	Chr3:49046490 [GRCh38] Chr3:49083923 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1306C>G (p.Gln436Glu)	single nucleotide variant	Ververi-Brady syndrome [RCV000987267]	Chr3:49056894 [GRCh38] Chr3:49094327 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.845dup (p.Leu282fs)	duplication	Ververi-Brady syndrome [RCV003459146]	Chr3:49057354..49057355 [GRCh38] Chr3:49094787..49094788 [GRCh37] Chr3:3p21.31	pathogenic
GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	copy number gain	not provided [RCV000767704]	Chr3:45153770..53878616 [GRCh37] Chr3:3p21.31-21.1	pathogenic
NM_198880.3(QRICH1):c.2166C>T (p.Asp722=)	single nucleotide variant	QRICH1-related disorder [RCV003970750]\|not provided [RCV000953350]	Chr3:49030617 [GRCh38] Chr3:49068050 [GRCh37] Chr3:3p21.31	benign\|likely benign
NM_198880.3(QRICH1):c.64dup (p.Val22fs)	duplication	Ververi-Brady syndrome [RCV000987269]	Chr3:49076953..49076954 [GRCh38] Chr3:49114386..49114387 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1147_1150del (p.Leu383fs)	microsatellite	Ververi-Brady syndrome [RCV000987268]	Chr3:49057050..49057053 [GRCh38] Chr3:49094483..49094486 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.832_833del (p.Ser278fs)	microsatellite	Intellectual disability [RCV001194624]\|Ververi-Brady syndrome [RCV001507075]	Chr3:49057367..49057368 [GRCh38] Chr3:49094800..49094801 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1812_1813del (p.Glu605fs)	deletion	Intellectual disability, mild [RCV001195178]\|Ververi-Brady syndrome [RCV001507076]	Chr3:49033202..49033203 [GRCh38] Chr3:49070635..49070636 [GRCh37] Chr3:3p21.31	pathogenic
GRCh37/hg19 3p21.31(chr3:48346677-49630228)x1	copy number loss	not provided [RCV001005432]	Chr3:48346677..49630228 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.728A>C (p.Gln243Pro)	single nucleotide variant	Autism spectrum disorder [RCV003127262]	Chr3:49057472 [GRCh38] Chr3:49094905 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1243A>G (p.Ile415Val)	single nucleotide variant	Inborn genetic diseases [RCV003273310]	Chr3:49056957 [GRCh38] Chr3:49094390 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.625C>T (p.Gln209Ter)	single nucleotide variant	Ververi-Brady syndrome [RCV004699107]	Chr3:49057575 [GRCh38] Chr3:49095008 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_198880.3(QRICH1):c.1149_1150del (p.Phe384fs)	microsatellite	Inborn genetic diseases [RCV002570672]\|Ververi-Brady syndrome [RCV001548773]\|not provided [RCV001546229]	Chr3:49057050..49057051 [GRCh38] Chr3:49094483..49094484 [GRCh37] Chr3:3p21.31	pathogenic\|uncertain significance
NM_198880.3(QRICH1):c.532C>T (p.Gln178Ter)	single nucleotide variant	not provided [RCV004812827]	Chr3:49057668 [GRCh38] Chr3:49095101 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.400C>T (p.Gln134Ter)	single nucleotide variant	Inborn genetic diseases [RCV003274795]	Chr3:49057800 [GRCh38] Chr3:49095233 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.651dup (p.Ala218fs)	duplication	not provided [RCV001591594]	Chr3:49057548..49057549 [GRCh38] Chr3:49094981..49094982 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_198880.3(QRICH1):c.1362A>G (p.Glu454=)	single nucleotide variant	not provided [RCV000933386]	Chr3:49047223 [GRCh38] Chr3:49084656 [GRCh37] Chr3:3p21.31	likely benign
NM_198880.3(QRICH1):c.1148dup (p.Phe384fs)	duplication	not provided [RCV001238449]	Chr3:49057051..49057052 [GRCh38] Chr3:49094484..49094485 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.2114T>G (p.Leu705Arg)	single nucleotide variant	not provided [RCV003108263]	Chr3:49032207 [GRCh38] Chr3:49069640 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.2139-17A>C	single nucleotide variant	not specified [RCV002470108]	Chr3:49030661 [GRCh38] Chr3:49068094 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1081A>T (p.Met361Leu)	single nucleotide variant	not provided [RCV004814617]	Chr3:49057119 [GRCh38] Chr3:49094552 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.2207G>A (p.Ser736Asn)	single nucleotide variant	Ververi-Brady syndrome [RCV001250985]	Chr3:49030576 [GRCh38] Chr3:49068009 [GRCh37] Chr3:3p21.31	pathogenic\|likely pathogenic
NM_198880.3(QRICH1):c.1807G>T (p.Val603Leu)	single nucleotide variant	Ververi-Brady syndrome [RCV001262345]	Chr3:49033208 [GRCh38] Chr3:49070641 [GRCh37] Chr3:3p21.31	likely pathogenic\|uncertain significance
GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	copy number loss	not provided [RCV001259686]	Chr3:48807193..51363558 [GRCh37] Chr3:3p21.31-21.2	pathogenic
NM_198880.3(QRICH1):c.770C>T (p.Ser257Phe)	single nucleotide variant	Ververi-Brady syndrome [RCV001270763]	Chr3:49057430 [GRCh38] Chr3:49094863 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1265C>T (p.Pro422Leu)	single nucleotide variant	not provided [RCV002280242]	Chr3:49056935 [GRCh38] Chr3:49094368 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1511T>C (p.Ile504Thr)	single nucleotide variant	not provided [RCV004598846]	Chr3:49047074 [GRCh38] Chr3:49084507 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.68C>T (p.Pro23Leu)	single nucleotide variant	Ververi-Brady syndrome [RCV001391660]	Chr3:49076950 [GRCh38] Chr3:49114383 [GRCh37] Chr3:3p21.31	likely pathogenic
NC_000003.11:g.(?_48507870)_(50340407_?)del	deletion	Aicardi-Goutieres syndrome 1 [RCV001380369]	Chr3:48507870..50340407 [GRCh37] Chr3:3p21.31	pathogenic
NM_017730.3:c.2207G>A	single nucleotide variant	Ververi-Brady syndrome [RCV001507074]	Chr3:3p21.31	pathogenic
NM_017730.3:c.1812_1813del	deletion	Ververi-Brady syndrome [RCV001507076]	Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.161T>C (p.Val54Ala)	single nucleotide variant	not provided [RCV001757052]	Chr3:49076857 [GRCh38] Chr3:49114290 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.646G>A (p.Val216Met)	single nucleotide variant	not specified [RCV002246743]	Chr3:49057554 [GRCh38] Chr3:49094987 [GRCh37] Chr3:3p21.31	benign
NM_198880.3(QRICH1):c.955C>T (p.Arg319Trp)	single nucleotide variant	not provided [RCV001763334]	Chr3:49057245 [GRCh38] Chr3:49094678 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.443C>A (p.Ala148Asp)	single nucleotide variant	not provided [RCV001773009]	Chr3:49057757 [GRCh38] Chr3:49095190 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.199A>G (p.Thr67Ala)	single nucleotide variant	not provided [RCV001763829]	Chr3:49076819 [GRCh38] Chr3:49114252 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.310-2A>C	single nucleotide variant	Ververi-Brady syndrome [RCV001800218]	Chr3:49057892 [GRCh38] Chr3:49095325 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.756G>T (p.Met252Ile)	single nucleotide variant	Ververi-Brady syndrome [RCV001800220]	Chr3:49057444 [GRCh38] Chr3:49094877 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_198880.3(QRICH1):c.1180C>G (p.His394Asp)	single nucleotide variant	Ververi-Brady syndrome [RCV001800224]	Chr3:49057020 [GRCh38] Chr3:49094453 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_198880.3(QRICH1):c.1626del (p.Tyr543fs)	deletion	Ververi-Brady syndrome [RCV001800231]	Chr3:49046470 [GRCh38] Chr3:49083903 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1649A>G (p.Tyr550Cys)	single nucleotide variant	Ververi-Brady syndrome [RCV001800232]\|not provided [RCV002469412]	Chr3:49046447 [GRCh38] Chr3:49083880 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_198880.3(QRICH1):c.136del (p.Gln46fs)	deletion	Ververi-Brady syndrome [RCV001800217]\|not provided [RCV003223727]	Chr3:49076882 [GRCh38] Chr3:49114315 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.541C>T (p.Gln181Ter)	single nucleotide variant	Ververi-Brady syndrome [RCV001800219]	Chr3:49057659 [GRCh38] Chr3:49095092 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1531C>T (p.Arg511Ter)	single nucleotide variant	Ververi-Brady syndrome [RCV001800229]\|not provided [RCV003235598]	Chr3:49046565 [GRCh38] Chr3:49083998 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.823C>T (p.Gln275Ter)	single nucleotide variant	Ververi-Brady syndrome [RCV001800221]	Chr3:49057377 [GRCh38] Chr3:49094810 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1258C>T (p.Gln420Ter)	single nucleotide variant	Ververi-Brady syndrome [RCV001800225]	Chr3:49056942 [GRCh38] Chr3:49094375 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1579G>A (p.Gly527Arg)	single nucleotide variant	Ververi-Brady syndrome [RCV001800230]	Chr3:49046517 [GRCh38] Chr3:49083950 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_198880.3(QRICH1):c.1655del (p.Phe552fs)	deletion	Ververi-Brady syndrome [RCV001800233]	Chr3:49046441 [GRCh38] Chr3:49083874 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_198880.3(QRICH1):c.1787-2A>G	single nucleotide variant	Ververi-Brady syndrome [RCV001800235]\|not provided [RCV003319479]	Chr3:49033230 [GRCh38] Chr3:49070663 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1884C>G (p.Phe628Leu)	single nucleotide variant	Ververi-Brady syndrome [RCV001800237]	Chr3:49033131 [GRCh38] Chr3:49070564 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_198880.3(QRICH1):c.2216G>A (p.Trp739Ter)	single nucleotide variant	Ververi-Brady syndrome [RCV001800239]	Chr3:49030567 [GRCh38] Chr3:49068000 [GRCh37] Chr3:3p21.31	pathogenic\|conflicting interpretations of pathogenicity
NM_198880.3(QRICH1):c.1291A>G (p.Thr431Ala)	single nucleotide variant	not provided [RCV001760780]	Chr3:49056909 [GRCh38] Chr3:49094342 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.961del (p.Asp321fs)	deletion	Ververi-Brady syndrome [RCV001800222]\|not provided [RCV003328682]	Chr3:49057239 [GRCh38] Chr3:49094672 [GRCh37] Chr3:3p21.31	pathogenic\|likely pathogenic
NM_198880.3(QRICH1):c.985del (p.His329fs)	deletion	Ververi-Brady syndrome [RCV001800223]	Chr3:49057215 [GRCh38] Chr3:49094648 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1896-2A>G	single nucleotide variant	Ververi-Brady syndrome [RCV001800238]	Chr3:49032775 [GRCh38] Chr3:49070208 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1292dup (p.Pro432fs)	duplication	Inborn genetic diseases [RCV002541337]\|Ververi-Brady syndrome [RCV001800226]	Chr3:49056907..49056908 [GRCh38] Chr3:49094340..49094341 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1720T>G (p.Tyr574Asp)	single nucleotide variant	Ververi-Brady syndrome [RCV001800234]	Chr3:49044456 [GRCh38] Chr3:49081889 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_198880.3(QRICH1):c.46C>T (p.Arg16Ter)	single nucleotide variant	Ververi-Brady syndrome [RCV001800216]\|not provided [RCV004770204]	Chr3:49076972 [GRCh38] Chr3:49114405 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1304A>G (p.Gln435Arg)	single nucleotide variant	Ververi-Brady syndrome [RCV001800227]\|not provided [RCV002276899]	Chr3:49056896 [GRCh38] Chr3:49094329 [GRCh37] Chr3:3p21.31	likely pathogenic\|uncertain significance
NM_198880.3(QRICH1):c.1578T>C (p.Tyr526=)	single nucleotide variant	not provided [RCV001815922]	Chr3:49046518 [GRCh38] Chr3:49083951 [GRCh37] Chr3:3p21.31	likely benign
NM_198880.3(QRICH1):c.2214C>G (p.Ile738Met)	single nucleotide variant	Ververi-Brady syndrome [RCV001843861]	Chr3:49030569 [GRCh38] Chr3:49068002 [GRCh37] Chr3:3p21.31	uncertain significance
GRCh37/hg19 3p21.31(chr3:49060512-49678685)	copy number gain	not specified [RCV002053349]	Chr3:49060512..49678685 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1998G>A (p.Thr666=)	single nucleotide variant	not provided [RCV002214289]	Chr3:49032671 [GRCh38] Chr3:49070104 [GRCh37] Chr3:3p21.31	likely benign
NM_198880.3(QRICH1):c.1786+1G>A	single nucleotide variant	Ververi-Brady syndrome [RCV002221890]	Chr3:49044389 [GRCh38] Chr3:49081822 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_017730.4(QRICH1):c.1498A>G (p.Arg500Gly)	single nucleotide variant	not provided [RCV002221942]		uncertain significance
NC_000003.11:g.(?_45435946)_(49137751_?)dup	duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003116297]	Chr3:45435946..49137751 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1441G>A (p.Val481Ile)	single nucleotide variant	not specified [RCV003123503]	Chr3:49047144 [GRCh38] Chr3:49084577 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.887G>A (p.Ser296Asn)	single nucleotide variant	Ververi-Brady syndrome [RCV003148449]	Chr3:49057313 [GRCh38] Chr3:49094746 [GRCh37] Chr3:3p21.31	uncertain significance
GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	copy number loss	not provided [RCV002279744]	Chr3:44948482..49115809 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1711G>A (p.Asp571Asn)	single nucleotide variant	Ververi-Brady syndrome [RCV002266607]	Chr3:49044465 [GRCh38] Chr3:49081898 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.418del (p.Gln140fs)	deletion	Ververi-Brady syndrome [RCV002277749]	Chr3:49057782 [GRCh38] Chr3:49095215 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.2266C>T (p.Arg756Trp)	single nucleotide variant	Inborn genetic diseases [RCV003164415]\|not provided [RCV002281278]	Chr3:49030517 [GRCh38] Chr3:49067950 [GRCh37] Chr3:3p21.31	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_198880.3(QRICH1):c.2257A>G (p.Met753Val)	single nucleotide variant	not provided [RCV002269560]	Chr3:49030526 [GRCh38] Chr3:49067959 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.2005C>T (p.Arg669Trp)	single nucleotide variant	not provided [RCV002285574]	Chr3:49032664 [GRCh38] Chr3:49070097 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.2080A>G (p.Asn694Asp)	single nucleotide variant	not provided [RCV002269618]	Chr3:49032241 [GRCh38] Chr3:49069674 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.476C>A (p.Pro159His)	single nucleotide variant	Ververi-Brady syndrome [RCV003130378]	Chr3:49057724 [GRCh38] Chr3:49095157 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1245A>G (p.Ile415Met)	single nucleotide variant	Ververi-Brady syndrome [RCV002470543]\|not specified [RCV004690298]	Chr3:49056955 [GRCh38] Chr3:49094388 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.2280_2281del (p.Ile760fs)	deletion	Ververi-Brady syndrome [RCV003233405]	Chr3:49030502..49030503 [GRCh38] Chr3:49067935..49067936 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_198880.3(QRICH1):c.114G>T (p.Gly38=)	single nucleotide variant	not provided [RCV002512227]	Chr3:49076904 [GRCh38] Chr3:49114337 [GRCh37] Chr3:3p21.31	likely benign
NM_198880.3(QRICH1):c.519C>A (p.His173Gln)	single nucleotide variant	Inborn genetic diseases [RCV002689956]	Chr3:49057681 [GRCh38] Chr3:49095114 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.486dup (p.Gln163fs)	duplication	not provided [RCV002880305]	Chr3:49057713..49057714 [GRCh38] Chr3:49095146..49095147 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.259C>T (p.Gln87Ter)	single nucleotide variant	Inborn genetic diseases [RCV002661581]	Chr3:49076759 [GRCh38] Chr3:49114192 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1214C>T (p.Thr405Met)	single nucleotide variant	Inborn genetic diseases [RCV002951232]	Chr3:49056986 [GRCh38] Chr3:49094419 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1315C>T (p.Gln439Ter)	single nucleotide variant	not provided [RCV002828871]	Chr3:49056885 [GRCh38] Chr3:49094318 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.190A>G (p.Thr64Ala)	single nucleotide variant	Inborn genetic diseases [RCV002812475]	Chr3:49076828 [GRCh38] Chr3:49114261 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.41A>G (p.Tyr14Cys)	single nucleotide variant	Inborn genetic diseases [RCV002668779]	Chr3:49076977 [GRCh38] Chr3:49114410 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.2248A>G (p.Met750Val)	single nucleotide variant	Inborn genetic diseases [RCV002988161]	Chr3:49030535 [GRCh38] Chr3:49067968 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.456G>C (p.Gln152His)	single nucleotide variant	Inborn genetic diseases [RCV002807432]	Chr3:49057744 [GRCh38] Chr3:49095177 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.325C>T (p.Gln109Ter)	single nucleotide variant	Inborn genetic diseases [RCV002965254]	Chr3:49057875 [GRCh38] Chr3:49095308 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.59G>A (p.Arg20Gln)	single nucleotide variant	Inborn genetic diseases [RCV002718724]	Chr3:49076959 [GRCh38] Chr3:49114392 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.186A>G (p.Ile62Met)	single nucleotide variant	not provided [RCV003156641]	Chr3:49076832 [GRCh38] Chr3:49114265 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.2207G>T (p.Ser736Ile)	single nucleotide variant	not provided [RCV004780951]	Chr3:49030576 [GRCh38] Chr3:49068009 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.292C>T (p.Gln98Ter)	single nucleotide variant	Ververi-Brady syndrome [RCV003133745]	Chr3:49076726 [GRCh38] Chr3:49114159 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_198880.3(QRICH1):c.598G>A (p.Val200Met)	single nucleotide variant	Ververi-Brady syndrome [RCV003227099]	Chr3:49057602 [GRCh38] Chr3:49095035 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1981C>T (p.Pro661Ser)	single nucleotide variant	Ververi-Brady syndrome [RCV003135194]	Chr3:49032688 [GRCh38] Chr3:49070121 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.701G>A (p.Arg234Gln)	single nucleotide variant	Ververi-Brady syndrome [RCV003135195]	Chr3:49057499 [GRCh38] Chr3:49094932 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1965GAA[1] (p.Lys656del)	microsatellite	not provided [RCV003321140]	Chr3:49032699..49032701 [GRCh38] Chr3:49070132..49070134 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1828G>T (p.Glu610Ter)	single nucleotide variant	Inborn genetic diseases [RCV003356943]	Chr3:49033187 [GRCh38] Chr3:49070620 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.623G>A (p.Gly208Asp)	single nucleotide variant	not provided [RCV003332680]	Chr3:49057577 [GRCh38] Chr3:49095010 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.697G>C (p.Glu233Gln)	single nucleotide variant	QRICH1-related disorder [RCV003394448]	Chr3:49057503 [GRCh38] Chr3:49094936 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1234A>T (p.Thr412Ser)	single nucleotide variant	Inborn genetic diseases [RCV003369903]	Chr3:49056966 [GRCh38] Chr3:49094399 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.2264C>T (p.Thr755Met)	single nucleotide variant	Inborn genetic diseases [RCV003363224]	Chr3:49030519 [GRCh38] Chr3:49067952 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.60G>A (p.Arg20=)	single nucleotide variant	not provided [RCV003433590]	Chr3:49076958 [GRCh38] Chr3:49114391 [GRCh37] Chr3:3p21.31	likely benign
NM_198880.3(QRICH1):c.2229G>C (p.Gln743His)	single nucleotide variant	QRICH1-related disorder [RCV003404235]	Chr3:49030554 [GRCh38] Chr3:49067987 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1964A>G (p.Lys655Arg)	single nucleotide variant	not provided [RCV003437838]	Chr3:49032705 [GRCh38] Chr3:49070138 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.743G>A (p.Arg248His)	single nucleotide variant	QRICH1-related disorder [RCV003404644]	Chr3:49057457 [GRCh38] Chr3:49094890 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1479A>G (p.Leu493=)	single nucleotide variant	not provided [RCV003433588]	Chr3:49047106 [GRCh38] Chr3:49084539 [GRCh37] Chr3:3p21.31	likely benign
NM_198880.3(QRICH1):c.2066C>G (p.Ala689Gly)	single nucleotide variant	not provided [RCV003457111]	Chr3:49032255 [GRCh38] Chr3:49069688 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.2035A>C (p.Thr679Pro)	single nucleotide variant	not provided [RCV004819089]	Chr3:49032634 [GRCh38] Chr3:49070067 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.157A>G (p.Met53Val)	single nucleotide variant	not provided [RCV003433589]	Chr3:49076861 [GRCh38] Chr3:49114294 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.608A>G (p.Gln203Arg)	single nucleotide variant	not provided [RCV003443774]	Chr3:49057592 [GRCh38] Chr3:49095025 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.2076G>A (p.Thr692=)	single nucleotide variant	not provided [RCV003437837]	Chr3:49032245 [GRCh38] Chr3:49069678 [GRCh37] Chr3:3p21.31	likely benign
NM_198880.3(QRICH1):c.336G>T (p.Pro112=)	single nucleotide variant	not provided [RCV003437840]	Chr3:49057864 [GRCh38] Chr3:49095297 [GRCh37] Chr3:3p21.31	likely benign
NM_198880.3(QRICH1):c.1517-8C>T	single nucleotide variant	QRICH1-related disorder [RCV003929128]\|not provided [RCV003437839]	Chr3:49046587 [GRCh38] Chr3:49084020 [GRCh37] Chr3:3p21.31	benign\|likely benign
NM_198880.3(QRICH1):c.1234del (p.Thr412fs)	deletion	Ververi-Brady syndrome [RCV003388853]	Chr3:49056966 [GRCh38] Chr3:49094399 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_198880.3(QRICH1):c.556C>A (p.Pro186Thr)	single nucleotide variant	not provided [RCV003442698]	Chr3:49057644 [GRCh38] Chr3:49095077 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.2159G>A (p.Arg720Gln)	single nucleotide variant	Ververi-Brady syndrome [RCV003594711]	Chr3:49030624 [GRCh38] Chr3:49068057 [GRCh37] Chr3:3p21.31	likely pathogenic
GRCh37/hg19 3p21.31(chr3:49112665-49175315)x1	copy number loss	not specified [RCV003986428]	Chr3:49112665..49175315 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.427G>A (p.Ala143Thr)	single nucleotide variant	QRICH1-related disorder [RCV003934775]	Chr3:49057773 [GRCh38] Chr3:49095206 [GRCh37] Chr3:3p21.31	likely benign
NM_198880.3(QRICH1):c.2265G>A (p.Thr755=)	single nucleotide variant	QRICH1-related disorder [RCV003932235]	Chr3:49030518 [GRCh38] Chr3:49067951 [GRCh37] Chr3:3p21.31	benign
NM_198880.3(QRICH1):c.729A>G (p.Gln243=)	single nucleotide variant	QRICH1-related disorder [RCV003951723]	Chr3:49057471 [GRCh38] Chr3:49094904 [GRCh37] Chr3:3p21.31	likely benign
NM_198880.3(QRICH1):c.1618G>C (p.Gly540Arg)	single nucleotide variant	Ververi-Brady syndrome [RCV004555270]	Chr3:49046478 [GRCh38] Chr3:49083911 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1147del (p.Leu383fs)	deletion	Ververi-Brady syndrome [RCV004555002]	Chr3:49057053 [GRCh38] Chr3:49094486 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_198880.3(QRICH1):c.1597C>T (p.Arg533Trp)	single nucleotide variant	QRICH1-related disorder [RCV004755167]	Chr3:49046499 [GRCh38] Chr3:49083932 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.372C>T (p.Thr124=)	single nucleotide variant	QRICH1-related disorder [RCV003944375]	Chr3:49057828 [GRCh38] Chr3:49095261 [GRCh37] Chr3:3p21.31	likely benign
NM_198880.3(QRICH1):c.187T>C (p.Tyr63His)	single nucleotide variant	Ververi-Brady syndrome [RCV003992001]	Chr3:49076831 [GRCh38] Chr3:49114264 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3:c.309+9376_1339-2808dup	duplication	Ververi-Brady syndrome [RCV004555211]		likely pathogenic
NM_198880.3(QRICH1):c.949dup (p.Gln317fs)	duplication	Ververi-Brady syndrome [RCV004594957]	Chr3:49057250..49057251 [GRCh38] Chr3:49094683..49094684 [GRCh37] Chr3:3p21.31	pathogenic
NC_000003.11:g.(?_48895143)_(49213234_?)del	deletion	Carnitine acylcarnitine translocase deficiency [RCV004580965]	Chr3:48895143..49213234 [GRCh37] Chr3:3p21.31	pathogenic
NC_000003.11:g.(?_48895920)_(49570632_?)del	deletion	Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV004580970]\|Carnitine acylcarnitine translocase deficiency [RCV004580969]	Chr3:48895920..49570632 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1227G>A (p.Thr409=)	single nucleotide variant	not provided [RCV004585511]	Chr3:49056973 [GRCh38] Chr3:49094406 [GRCh37] Chr3:3p21.31	likely benign
NM_198880.3(QRICH1):c.1671G>A (p.Lys557=)	single nucleotide variant	not provided [RCV004592382]	Chr3:49046425 [GRCh38] Chr3:49083858 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1453T>G (p.Trp485Gly)	single nucleotide variant	Ververi-Brady syndrome [RCV004595063]	Chr3:49047132 [GRCh38] Chr3:49084565 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_198880.3(QRICH1):c.975G>C (p.Gln325His)	single nucleotide variant	Inborn genetic diseases [RCV004662896]	Chr3:49057225 [GRCh38] Chr3:49094658 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.630G>T (p.Gln210His)	single nucleotide variant	Inborn genetic diseases [RCV004662898]	Chr3:49057570 [GRCh38] Chr3:49095003 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.2175C>G (p.Tyr725Ter)	single nucleotide variant	not provided [RCV004698004]	Chr3:49030608 [GRCh38] Chr3:49068041 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1517-3C>G	single nucleotide variant	not provided [RCV004698005]	Chr3:49046582 [GRCh38] Chr3:49084015 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_198880.3(QRICH1):c.1244T>C (p.Ile415Thr)	single nucleotide variant	Inborn genetic diseases [RCV004662895]	Chr3:49056956 [GRCh38] Chr3:49094389 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.714G>A (p.Thr238=)	single nucleotide variant	not provided [RCV004597702]	Chr3:49057486 [GRCh38] Chr3:49094919 [GRCh37] Chr3:3p21.31	likely benign
NM_198880.3(QRICH1):c.1337C>G (p.Ser446Ter)	single nucleotide variant	not provided [RCV004698006]	Chr3:49056863 [GRCh38] Chr3:49094296 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.1453_1454del (p.Trp485fs)	deletion	not provided [RCV004811047]	Chr3:49047131..49047132 [GRCh38] Chr3:49084564..49084565 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.656T>G (p.Leu219Arg)	single nucleotide variant	QRICH1-related disorder [RCV004755477]	Chr3:49057544 [GRCh38] Chr3:49094977 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1990A>G (p.Lys664Glu)	single nucleotide variant	not provided [RCV004777347]	Chr3:49032679 [GRCh38] Chr3:49070112 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.16del (p.Glu6fs)	deletion	QRICH1-related disorder [RCV004755549]	Chr3:49077002 [GRCh38] Chr3:49114435 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1151T>G (p.Phe384Cys)	single nucleotide variant	QRICH1-related disorder [RCV004732317]	Chr3:49057049 [GRCh38] Chr3:49094482 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1158_1159insTTC (p.Ala386_Gln387insPhe)	insertion	not provided [RCV004762599]		uncertain significance
NM_198880.3(QRICH1):c.2209C>A (p.Pro737Thr)	single nucleotide variant	QRICH1-related disorder [RCV004730401]	Chr3:49030574 [GRCh38] Chr3:49068007 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1485G>C (p.Lys495Asn)	single nucleotide variant	not provided [RCV004776013]	Chr3:49047100 [GRCh38] Chr3:49084533 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.652G>T (p.Ala218Ser)	single nucleotide variant	not provided [RCV004761018]		uncertain significance
NM_198880.3(QRICH1):c.347C>T (p.Ser116Leu)	single nucleotide variant	not provided [RCV004764109]		uncertain significance
NM_198880.3(QRICH1):c.2329_2330dup (p.Ter777CysextTer?)	duplication	not provided [RCV004759855]		uncertain significance
NM_198880.3(QRICH1):c.695G>C (p.Gly232Ala)	single nucleotide variant	not provided [RCV004766181]	Chr3:49057505 [GRCh38] Chr3:49094938 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1615G>A (p.Glu539Lys)	single nucleotide variant	Inborn genetic diseases [RCV004957447]	Chr3:49046481 [GRCh38] Chr3:49083914 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1630G>T (p.Asp544Tyr)	single nucleotide variant	Inborn genetic diseases [RCV004957455]	Chr3:49046466 [GRCh38] Chr3:49083899 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.392A>C (p.Gln131Pro)	single nucleotide variant	Inborn genetic diseases [RCV004957446]	Chr3:49057808 [GRCh38] Chr3:49095241 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.2323A>G (p.Met775Val)	single nucleotide variant	Inborn genetic diseases [RCV004957454]	Chr3:49030460 [GRCh38] Chr3:49067893 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1274A>G (p.Gln425Arg)	single nucleotide variant	Inborn genetic diseases [RCV004957445]	Chr3:49056926 [GRCh38] Chr3:49094359 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1421A>G (p.Lys474Arg)	single nucleotide variant	Inborn genetic diseases [RCV004957456]	Chr3:49047164 [GRCh38] Chr3:49084597 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.863C>G (p.Thr288Arg)	single nucleotide variant	Inborn genetic diseases [RCV004957449]	Chr3:49057337 [GRCh38] Chr3:49094770 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.3G>A (p.Met1Ile)	single nucleotide variant	Inborn genetic diseases [RCV004957450]	Chr3:49077015 [GRCh38] Chr3:49114448 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.2284G>A (p.Glu762Lys)	single nucleotide variant	Inborn genetic diseases [RCV004957453]	Chr3:49030499 [GRCh38] Chr3:49067932 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.2212A>G (p.Ile738Val)	single nucleotide variant	not provided [RCV005001559]	Chr3:49030571 [GRCh38] Chr3:49068004 [GRCh37] Chr3:3p21.31	uncertain significance
GRCh37/hg19 3p21.31-21.2(chr3:48855503-51285217)x3	copy number gain	not provided [RCV004819277]	Chr3:48855503..51285217 [GRCh37] Chr3:3p21.31-21.2	likely pathogenic
NM_198880.3(QRICH1):c.1335T>G (p.Cys445Trp)	single nucleotide variant	not provided [RCV005001836]	Chr3:49056865 [GRCh38] Chr3:49094298 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1346_1351delinsGT (p.Thr449fs)	indel	Ververi-Brady syndrome [RCV005227171]	Chr3:49047234..49047239 [GRCh38] Chr3:49084667..49084672 [GRCh37] Chr3:3p21.31	pathogenic
NM_198880.3(QRICH1):c.2281dup (p.Arg761fs)	duplication	not provided [RCV005227542]	Chr3:49030501..49030502 [GRCh38] Chr3:49067934..49067935 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1642C>G (p.Leu548Val)	single nucleotide variant	not provided [RCV005143354]	Chr3:49046454 [GRCh38] Chr3:49083887 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1005A>T (p.Glu335Asp)	single nucleotide variant	not provided [RCV005140551]	Chr3:49057195 [GRCh38] Chr3:49094628 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.764C>T (p.Thr255Ile)	single nucleotide variant	Inborn genetic diseases [RCV004957452]	Chr3:49057436 [GRCh38] Chr3:49094869 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.455A>C (p.Gln152Pro)	single nucleotide variant	Inborn genetic diseases [RCV003356740]	Chr3:49057745 [GRCh38] Chr3:49095178 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1726C>T (p.Arg576Trp)	single nucleotide variant	Inborn genetic diseases [RCV004440759]	Chr3:49044450 [GRCh38] Chr3:49081883 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.326A>T (p.Gln109Leu)	single nucleotide variant	Inborn genetic diseases [RCV004440761]	Chr3:49057874 [GRCh38] Chr3:49095307 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.593A>G (p.Gln198Arg)	single nucleotide variant	Inborn genetic diseases [RCV004440762]	Chr3:49057607 [GRCh38] Chr3:49095040 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.582_629del (p.Ala197_Gln212del)	deletion	Ververi-Brady syndrome [RCV004698904]	Chr3:49057571..49057618 [GRCh38] Chr3:49095004..49095051 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.442G>T (p.Ala148Ser)	single nucleotide variant	Inborn genetic diseases [RCV004669349]	Chr3:49057758 [GRCh38] Chr3:49095191 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1619G>A (p.Gly540Asp)	single nucleotide variant	Inborn genetic diseases [RCV004669350]	Chr3:49046477 [GRCh38] Chr3:49083910 [GRCh37] Chr3:3p21.31	uncertain significance
NM_198880.3(QRICH1):c.1345dup (p.Thr449fs)	duplication	Inborn genetic diseases [RCV004957451]	Chr3:49047239..49047240 [GRCh38] Chr3:49084672..49084673 [GRCh37] Chr3:3p21.31	pathogenic

Predicted Target Of

	Summary Value
Count of predictions:	2288
Count of miRNA genes:	865
Interacting mature miRNAs:	1031
Transcripts:	ENST00000357496, ENST00000395443, ENST00000411682, ENST00000424300, ENST00000430979, ENST00000437939, ENST00000450685, ENST00000469910, ENST00000477021, ENST00000479449, ENST00000489642, ENST00000498392, ENST00000498440
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597587583	GWAS1644443_H	eosinophil count QTL GWAS1644443 (human)		3e-20	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	3	49053263	49053264	Human
596976180	GWAS1095699_H	body height QTL GWAS1095699 (human)		4e-21	body height		3	49055944	49055945	Human
1298487	BFD1_H	Body fluid distribution QTL 1 (human)	3.94		Body fluid distribution	impedance ratio	3	36380712	62380712	Human
597445017	GWAS1541091_H	thioredoxin domain-containing protein 12 measurement QTL GWAS1541091 (human)		3e-81	thioredoxin domain-containing protein 12 measurement		3	49046262	49046263	Human
1298489	RA4_H	Rheumatoid arthritis QTL 4 (human)		0.0283	Joint/bone inflammation	rheumatoid arthritis	3	36380712	62380712	Human
1643509	BW293_H	Body Weight QTL 293 (human)	1.42		Body weight	BMI	3	36380712	62380712	Human
597266997	GWAS1363071_H	BMI-adjusted waist circumference QTL GWAS1363071 (human)		3e-08	body size trait (VT:0100005)		3	49051631	49051632	Human
597420309	GWAS1516383_H	cognitive function measurement QTL GWAS1516383 (human)		5e-13	cognitive behavior trait (VT:0010450)		3	49088219	49088220	Human
597467788	GWAS1563862_H	mood instability measurement QTL GWAS1563862 (human)		4e-11	mood instability measurement		3	49046133	49046134	Human
597073926	GWAS1170000_H	coronary artery disease QTL GWAS1170000 (human)		6e-09	coronary artery disease		3	49092945	49092946	Human
597049153	GWAS1145227_H	BMI-adjusted waist-hip ratio QTL GWAS1145227 (human)		3e-18	body size trait (VT:0100005)		3	49072486	49072487	Human
597225423	GWAS1321497_H	neuroticism measurement QTL GWAS1321497 (human)		4e-08	neuroticism measurement		3	49092945	49092946	Human
597343234	GWAS1439308_H	sexual dimorphism measurement QTL GWAS1439308 (human)		5e-08	sexual dimorphism measurement		3	49051631	49051632	Human
597580006	GWAS1636866_H	eosinophil count QTL GWAS1636866 (human)		1e-19	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	3	49053263	49053264	Human
597345318	GWAS1441392_H	body mass index QTL GWAS1441392 (human)		6e-15	body mass index	body mass index (BMI) (CMO:0000105)	3	49074445	49074446	Human
2316061	GLUCO194_H	Glucose level QTL 194 (human)		0.02	Glucose level		3	23380774	49380774	Human
2289308	BW392_H	Body weight QTL 392 (human)	1.42		Body weight	BMI	3	36380712	62380712	Human

RH80406

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	49,114,054 - 49,114,292	UniSTS	GRCh37
Build 36	3	49,089,058 - 49,089,296	RGD	NCBI36
Celera	3	49,070,813 - 49,071,051	RGD
Cytogenetic Map	3	p21.31	UniSTS
HuRef	3	49,171,537 - 49,171,775	UniSTS

RH93145

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	49,124,161 - 49,124,329	UniSTS	GRCh37
Build 36	3	49,099,165 - 49,099,333	RGD	NCBI36
Cytogenetic Map	3	p21.31	UniSTS
HuRef	3	49,181,642 - 49,181,810	UniSTS
GeneMap99-GB4 RH Map	3	157.44	UniSTS

RH122928

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	49,130,138 - 49,130,437	UniSTS	GRCh37
Build 36	3	49,105,142 - 49,105,441	RGD	NCBI36
Celera	3	49,087,100 - 49,087,399	RGD
Cytogenetic Map	3	p21.31	UniSTS
HuRef	3	49,188,668 - 49,188,967	UniSTS
TNG Radiation Hybrid Map	3	30995.0	UniSTS

D3S2759E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	49,067,892 - 49,067,972	UniSTS	GRCh37
Build 36	3	49,042,896 - 49,042,976	RGD	NCBI36
Celera	3	49,024,614 - 49,024,694	RGD
Cytogenetic Map	3	p21.31	UniSTS
HuRef	3	49,125,757 - 49,125,837	UniSTS

D3S4029

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	49,099,366 - 49,099,490	UniSTS	GRCh37
Build 36	3	49,074,370 - 49,074,494	RGD	NCBI36
Celera	3	49,056,074 - 49,056,198	RGD
HuRef	3	49,156,897 - 49,157,021	UniSTS

G16539

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	49,105,879 - 49,106,100	UniSTS	GRCh37
GRCh37	6	140,563,329 - 140,563,382	UniSTS	GRCh37
Build 36	3	49,080,883 - 49,081,104	RGD	NCBI36
Celera	6	141,304,198 - 141,304,251	RGD
HuRef	3	49,163,407 - 49,163,629	UniSTS
HuRef	6	138,126,593 - 138,126,646	UniSTS

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2438	2788	2252	4972	1726	2351	5	624	1951	465	2269	7303	6470	53	3734	1	852	1744	1617	175	1


RefSeq Transcripts	NM_001320580	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001320581	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001320582	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001320583	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001320584	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001320585	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_017730	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_198880	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011533863	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047448399	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054347004	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054347005	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC135506	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC137630	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK000266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK022524	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK025013	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK074313	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK093259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK124205	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK292536	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW673597	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC000978	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC098375	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC110855	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC130340	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC130342	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI459089	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471055	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068275	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA238657	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA241522	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA388875	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB062061	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB062422	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB062828	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HF584068	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY006215	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000357496 ⟹ ENSP00000350094

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,029,932 - 49,094,062 (-)	Ensembl

Ensembl Acc Id:

ENST00000395443 ⟹ ENSP00000378830

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,029,707 - 49,094,071 (-)	Ensembl

Ensembl Acc Id:

ENST00000411682 ⟹ ENSP00000412870

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,030,265 - 49,094,363 (-)	Ensembl

Ensembl Acc Id:

ENST00000424300 ⟹ ENSP00000412890

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,030,212 - 49,093,611 (-)	Ensembl

Ensembl Acc Id:

ENST00000430979 ⟹ ENSP00000405505

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,076,873 - 49,094,051 (-)	Ensembl

Ensembl Acc Id:

ENST00000437939 ⟹ ENSP00000416133

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,076,707 - 49,094,071 (-)	Ensembl

Ensembl Acc Id:

ENST00000450685 ⟹ ENSP00000413051

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,045,942 - 49,094,348 (-)	Ensembl

Ensembl Acc Id:

ENST00000469910

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,032,619 - 49,033,168 (-)	Ensembl

Ensembl Acc Id:

ENST00000477021

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,032,183 - 49,033,201 (-)	Ensembl

Ensembl Acc Id:

ENST00000479449

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,033,083 - 49,057,875 (-)	Ensembl

Ensembl Acc Id:

ENST00000489642

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,030,375 - 49,044,442 (-)	Ensembl

Ensembl Acc Id:

ENST00000498392

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,029,931 - 49,033,830 (-)	Ensembl

Ensembl Acc Id:

ENST00000498440

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,033,047 - 49,046,458 (-)	Ensembl

Ensembl Acc Id:

ENST00000703871 ⟹ ENSP00000515516

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,029,788 - 49,093,620 (-)	Ensembl

Ensembl Acc Id:

ENST00000703872 ⟹ ENSP00000515517

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,029,909 - 49,094,071 (-)	Ensembl

Ensembl Acc Id:

ENST00000703873 ⟹ ENSP00000515518

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,030,160 - 49,094,062 (-)	Ensembl

Ensembl Acc Id:

ENST00000703938 ⟹ ENSP00000515569

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,029,839 - 49,093,976 (-)	Ensembl

Ensembl Acc Id:

ENST00000703939 ⟹ ENSP00000515570

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,029,896 - 49,094,071 (-)	Ensembl

Ensembl Acc Id:

ENST00000703940 ⟹ ENSP00000515571

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,029,903 - 49,094,071 (-)	Ensembl

Ensembl Acc Id:

ENST00000703941 ⟹ ENSP00000515572

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,029,992 - 49,094,071 (-)	Ensembl

Ensembl Acc Id:

ENST00000703942 ⟹ ENSP00000515573

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,030,107 - 49,093,608 (-)	Ensembl

Ensembl Acc Id:

ENST00000703943 ⟹ ENSP00000515574

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	49,030,392 - 49,094,071 (-)	Ensembl

RefSeq Acc Id:

NM_001320580 ⟹ NP_001307509

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	49,029,707 - 49,093,610 (-)	NCBI
CHM1_1	3	49,019,701 - 49,083,860 (-)	NCBI
T2T-CHM13v2.0	3	49,057,747 - 49,121,678 (-)	NCBI

Sequence:

show sequence

GCGTTCCCGGCCCGGATATCTCTGCTCTAGGAGCTGTGGCCCGTGGGCAACCGCGGCTTTCTGGAGCGCGCGCCCGTGACGACCCCCAGTTTTGGGGCGCGCGCTCTGATATCGGGTGGCGGTGCTGC
CTCGAGAGCGCGCAGGAGGCTTCTGCTGAGCAGAGGGCCGGCCGCGGCTCGTTGCGCTGGGAAGGTTGAGGATTGGGTCCTTTCTGGTCTGGTGACGTTCCCGGGCATCCGTGGCCTCGGCCTGGAGA
GAAACCAACCAGCTTTGCTGTCTGGCTTGCGGTTCCGCTCCTCTGTGAGGGGGGCGAGATTGCCCGTTCTCCTCGAAGAATGCCGTTACTTGAGGCCCAAAATATTAGAAGTCTTAAGAACTCAGGAC
AAGCAGCAGAAATACATGCAACATGGTGACTGGAACCCTAAGGACTCTGCAATATGAATAATTCCCTAGAGAACACCATCTCCTTTGAAGAGTACATCCGAGTAAAGGCACGGTCTGTCCCGCAACAC
AGGATGAAGGAATTTCTGGACTCACTGGCCTCTAAGGGGCCAGAAGCCCTTCAGGAGTTCCAGCAGACAGCCACCACTACCATGGTGTACCAACAGGGTGGGAACTGCATATACACAGACAGCACTGA
AGTGGCTGGGTCTTTGCTTGAACTTGCCTGTCCAGTCACCACCAGTGTTCAGCCACAAACCCAGCAAGAACAGCAGATCCAGGTTCAGCAGCCGCAGCAGGTTCAGGTCCAGGTGCAGGTACAGCAGT
CTCCGCAACAGGTCTCGGCTCAGCTCTCCCCACAACTCACCGTTCACCAGCCTACTGAGCAACCCATCCAGGTCCAGGTGCAGATCCAAGGCCAGGCACCACAGTCAGCAGCCCCCTCCATTCAGACC
CCGTCTCTGCAGAGTCCCAGTCCCTCGCAGCTGCAAGCAGCTCAGATCCAGGTGCAGCACGTGCAAGCAGCCCAGCAGATCCAGGCTGCAGAAATCCCGGAGGAGCACATCCCACATCAGCAAATCCA
GGCTCAGCTGGTGGCTGGCCAGTCTCTTGCTGGTGGTCAGCAGATCCAAATCCAGACCGTGGGTGCCCTTTCCCCACCACCATCCCAGCAGGGCTCACCCCGGGAAGGGGAGCGGCGGGTTGGCACGG
CCAGTGTCCTCCAACCAGTGAAGAAGCGCAAAGTGGACATGCCCATCACTGTGTCCTACGCCATCTCAGGGCAGCCGGTGGCCACCGTGCTGGCCATTCCACAGGGCCAGCAGCAGAGTTATGTGTCT
TTGAGGCCAGACTTACTGACAGTAGACAGTGCCCACCTGTACAGTGCCACTGGGACCATTACTAGCCCTACAGGAGAAACCTGGACCATCCCTGTTTATTCTGCCCAGCCCCGGGGGGACCCTCAGCA
GCAGAGCATTACCCACATTGCCATTCCCCAGGAAGCCTACAACGCAGTTCACGTCAGTGGCTCACCCACAGCCCTGGCAGCTGTTAAGCTGGAGGATGACAAGGAGAAGATGGTGGGCACCACATCTG
TAGTGAAAAACTCCCATGAAGAGGTAGTGCAGACCCTTGCAAACTCTCTCTTTCCAGCACAGTTCATGAATGGCAACATCCACATTCCAGTGGCTGTGCAGGCTGTGGCAGGCACGTACCAGAATACG
GCTCAAACTGTCCATATATGGGACCCCCAACAGCAGCCGCAGCAGCAAACTCCCCAGGAACAGACACCACCACCACAGCAGCAGCAGCAGCAACTCCAAGTTACTTGTTCAGCTCAAACTGTCCAGGT
TGCTGAAGTTGAACCACAGTCACAGCCACAGCCTTCCCCAGAACTTCTGCTTCCAAATTCTTTGAAGCCAGAAGAAGGGCTTGAAGTATGGAAAAACTGGGCCCAGACCAAGAATGCTGAACTAGAGA
AGGATGCTCAGAACAGATTGGCACCCATTGGGAGGCGCCAACTGCTGCGATTCCAGGAAGATCTCATCTCCTCTGCTGTGGCAGAGTTGAATTATGGGCTCTGTCTAATGACACGGGAAGCTCGAAAT
GGAGAAGGTGAACCCTATGACCCAGATGTGCTCTACTATATTTTCCTGTGTATTCAAAAGTATCTTTTTGAAAATGGAAGGGTAGATGACATTTTCTCCGATCTTTATTATGTTCGGTTCACGGAGTG
GCTACATGAAGTTCTGAAGGATGTTCAGCCCCGGGTCACTCCACTTGGCTATGTCTTGCCCAGCCACGTGACTGAGGAGATGCTATGGGAGTGCAAGCAGCTTGGGGCTCACTCCCCCTCCACCTTGC
TGACCACCCTCATGTTCTTTAATACCAAGTACTTCCTATTGAAGACAGTGGACCAGCACATGAAGCTGGCCTTCTCCAAGGTCTTGCGACAGACAAAGAAGAACCCCTCTAATCCCAAGGATAAAAGC
ACGAGTATCCGGTACTTGAAGGCCCTTGGAATACACCAGACTGGCCAGAAAGTTACAGATGACATGTATGCAGAACAGACGGAAAATCCAGAGAATCCATTGAGATGTCCCATCAAGCTCTATGATTT
CTACCTCTTCAAATGCCCCCAGAGTGTGAAAGGCCGGAATGACACCTTTTACCTGACACCTGAGCCAGTGGTGGCCCCCAACAGCCCAATCTGGTACTCAGTCCAGCCTATCAGCAGAGAGCAGATGG
GACAAATGCTGACGCGGATCCTGGTGATAAGAGAAATTCAGGAGGCCATCGCAGTGGCCAATGCAAGCACTATGCACTGAGATGCCTTGGCCATGGCACAAGAGAAACCAGCCAGGAAAAACCAGACA
GACTTTCACACTAAAGAAGAGGCCTCCATTTTTTTTTTTCTTTTTTTTATTGGTGTAGTTACGAAGCCTTTCAGGCTGCTTCTGTTTAAAATATAAAAGAAAACTTTGCCCCCTTTGCATCTTCATAA
ACCTGCTGCGGCAGACTCCTCAGCCGATGGTGGCTCTGGGTTTCCTTGAGTGTCATATGTCCTAGAAAGTTGCTGGCTGACTCTTTTTTGTCTGGGGCCTGGGGAAAGGGCTTGGACTGTGAAAAGAA
ATGTGGCCCCTTTCCATCTTCAAGAGAGATGGAATTAATGATGGATGGACCCTGGAGGGAATCTCCCCAGCCGACTTCCACTGGGCTGACAGACTTTGCTGACCACAGGGGAACGATGTTCTTTTCTT
TCTTCATGATCAGACATAAACTTAGCATCTTAATGGAAGAAAAATGAGGGGAACTTCAATTATGATTTATTAAAGACAATTTCTATTACACCCTCCTTTATGACAAGTGACATTTTAGATGTAAAAGT
AAAAACTTTACCATGCCTTTTTTTTTTTTGTTGGCCTAACATTGAGGCCTTAAAACCTGAGGCTCCTGTGCCTGATGGAATTCTTGTAACATACACTTGTGTATCATATAAAGATACCACTCTGTTTC
TCTTATGTATTCTTACTCTAGTTGTTTATTAAGAATGACAAGCACGTCTTTTCAACA

hide sequence

RefSeq Acc Id:

NM_001320581 ⟹ NP_001307510

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	49,029,707 - 49,093,610 (-)	NCBI
CHM1_1	3	49,019,701 - 49,083,860 (-)	NCBI
T2T-CHM13v2.0	3	49,057,747 - 49,121,678 (-)	NCBI

Sequence:

show sequence

GCGTTCCCGGCCCGGATATCTCTGCTCTAGGAGCTGTGGCCCGTGGGCAACCGCGGCTTTCTGG
AGCGCGCGCCCGTGACGACCCCCAGTTTTGGGGCGCGCGCTCTGATATCGGGTGGCGGTGCTGCCTCGAGAGCGCGCAGGAGGCTTCTGCTGAGCAGAGGGCCGGCCGCGGCTCGTTGCGCTGGGAAG
GTTGAGGATTGGGTCCTTTCTGGTCTGGTGACGTTCCCGGGCATCCGTGGCCTCGGCCTGGAGAGAAACCAACCAGCTTTGCTGTCTGGCTTGCGGTTCCGCTCCTCTGTGAGGGGGGCGAGATTGCC
CGTTCTCCTCGAAGAATGCCGTTACTTGAGGCCCAAGTACGGTGCGGGTGCTTGGAATATTAGAAGTCTTAAGAACTCAGGACAAGCAGCAGAAATACATGCAACATGGTGACTGGAACCCTAAGGAC
TCTGCAATATGAATAATTCCCTAGAGAACACCATCTCCTTTGAAGAGTACATCCGAGTAAAGGCACGGTCTGTCCCGCAACACAGGATGAAGGAATTTCTGGACTCACTGGCCTCTAAGGGGCCAGAA
GCCCTTCAGGAGTTCCAGCAGACAGCCACCACTACCATGGTGTACCAACAGGGTGGGAACTGCATATACACAGACAGCACTGAAGTGGCTGGGTCTTTGCTTGAACTTGCCTGTCCAGTCACCACCAG
TGTTCAGCCACAAACCCAGCAAGAACAGCAGATCCAGGTTCAGCAGCCGCAGCAGGTTCAGGTCCAGGTGCAGGTACAGCAGTCTCCGCAACAGGTCTCGGCTCAGCTCTCCCCACAACTCACCGTTC
ACCAGCCTACTGAGCAACCCATCCAGGTCCAGGTGCAGATCCAAGGCCAGGCACCACAGTCAGCAGCCCCCTCCATTCAGACCCCGTCTCTGCAGAGTCCCAGTCCCTCGCAGCTGCAAGCAGCTCAG
ATCCAGGTGCAGCACGTGCAAGCAGCCCAGCAGATCCAGGCTGCAGAAATCCCGGAGGAGCACATCCCACATCAGCAAATCCAGGCTCAGCTGGTGGCTGGCCAGTCTCTTGCTGGTGGTCAGCAGAT
CCAAATCCAGACCGTGGGTGCCCTTTCCCCACCACCATCCCAGCAGGGCTCACCCCGGGAAGGGGAGCGGCGGGTTGGCACGGCCAGTGTCCTCCAACCAGTGAAGAAGCGCAAAGTGGACATGCCCA
TCACTGTGTCCTACGCCATCTCAGGGCAGCCGGTGGCCACCGTGCTGGCCATTCCACAGGGCCAGCAGCAGAGTTATGTGTCTTTGAGGCCAGACTTACTGACAGTAGACAGTGCCCACCTGTACAGT
GCCACTGGGACCATTACTAGCCCTACAGGAGAAACCTGGACCATCCCTGTTTATTCTGCCCAGCCCCGGGGGGACCCTCAGCAGCAGAGCATTACCCACATTGCCATTCCCCAGGAAGCCTACAACGC
AGTTCACGTCAGTGGCTCACCCACAGCCCTGGCAGCTGTTAAGCTGGAGGATGACAAGGAGAAGATGGTGGGCACCACATCTGTAGTGAAAAACTCCCATGAAGAGGTAGTGCAGACCCTTGCAAACT
CTCTCTTTCCAGCACAGTTCATGAATGGCAACATCCACATTCCAGTGGCTGTGCAGGCTGTGGCAGGCACGTACCAGAATACGGCTCAAACTGTCCATATATGGGACCCCCAACAGCAGCCGCAGCAG
CAAACTCCCCAGGAACAGACACCACCACCACAGCAGCAGCAGCAGCAACTCCAAGTTACTTGTTCAGCTCAAACTGTCCAGGTTGCTGAAGTTGAACCACAGTCACAGCCACAGCCTTCCCCAGAACT
TCTGCTTCCAAATTCTTTGAAGCCAGAAGAAGGGCTTGAAGTATGGAAAAACTGGGCCCAGACCAAGAATGCTGAACTAGAGAAGGATGCTCAGAACAGATTGGCACCCATTGGGAGGCGCCAACTGC
TGCGATTCCAGGAAGATCTCATCTCCTCTGCTGTGGCAGAGTTGAATTATGGGCTCTGTCTAATGACACGGGAAGCTCGAAATGGAGAAGGTGAACCCTATGACCCAGATGTGCTCTACTATATTTTC
CTGTGTATTCAAAAGTATCTTTTTGAAAATGGAAGGGTAGATGACATTTTCTCCGATCTTTATTATGTTCGGTTCACGGAGTGGCTACATGAAGTTCTGAAGGATGTTCAGCCCCGGGTCACTCCACT
TGGCTATGTCTTGCCCAGCCACGTGACTGAGGAGATGCTATGGGAGTGCAAGCAGCTTGGGGCTCACTCCCCCTCCACCTTGCTGACCACCCTCATGTTCTTTAATACCAAGTACTTCCTATTGAAGA
CAGTGGACCAGCACATGAAGCTGGCCTTCTCCAAGGTCTTGCGACAGACAAAGAAGAACCCCTCTAATCCCAAGGATAAAAGCACGAGTATCCGGTACTTGAAGGCCCTTGGAATACACCAGACTGGC
CAGAAAGTTACAGATGACATGTATGCAGAACAGACGGAAAATCCAGAGAATCCATTGAGATGTCCCATCAAGCTCTATGATTTCTACCTCTTCAAATGCCCCCAGAGTGTGAAAGGCCGGAATGACAC
CTTTTACCTGACACCTGAGCCAGTGGTGGCCCCCAACAGCCCAATCTGGTACTCAGTCCAGCCTATCAGCAGAGAGCAGATGGGACAAATGCTGACGCGGATCCTGGTGATAAGAGAAATTCAGGAGG
CCATCGCAGTGGCCAATGCAAGCACTATGCACTGAGATGCCTTGGCCATGGCACAAGAGAAACCAGCCAGGAAAAACCAGACAGACTTTCACACTAAAGAAGAGGCCTCCATTTTTTTTTTTCTTTTT
TTTATTGGTGTAGTTACGAAGCCTTTCAGGCTGCTTCTGTTTAAAATATAAAAGAAAACTTTGCCCCCTTTGCATCTTCATAAACCTGCTGCGGCAGACTCCTCAGCCGATGGTGGCTCTGGGTTTCC
TTGAGTGTCATATGTCCTAGAAAGTTGCTGGCTGACTCTTTTTTGTCTGGGGCCTGGGGAAAGGGCTTGGACTGTGAAAAGAAATGTGGCCCCTTTCCATCTTCAAGAGAGATGGAATTAATGATGGA
TGGACCCTGGAGGGAATCTCCCCAGCCGACTTCCACTGGGCTGACAGACTTTGCTGACCACAGGGGAACGATGTTCTTTTCTTTCTTCATGATCAGACATAAACTTAGCATCTTAATGGAAGAAAAAT
GAGGGGAACTTCAATTATGATTTATTAAAGACAATTTCTATTACACCCTCCTTTATGACAAGTGACATTTTAGATGTAAAAGTAAAAACTTTACCATGCCTTTTTTTTTTTTGTTGGCCTAACATTGA
GGCCTTAAAACCTGAGGCTCCTGTGCCTGATGGAATTCTTGTAACATACACTTGTGTATCATATAAAGATACCACTCTGTTTCTCTTATGTATTCTTACTCTAGTTGTTTATTAAGAATGACAAGCAC
GTCTTTTCAACA

hide sequence

RefSeq Acc Id:

NM_001320582 ⟹ NP_001307511

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	49,029,707 - 49,093,610 (-)	NCBI
CHM1_1	3	49,019,701 - 49,083,860 (-)	NCBI
T2T-CHM13v2.0	3	49,057,747 - 49,121,678 (-)	NCBI

Sequence:

show sequence

GCGTTCCCGGCCCGGATATCTCTGCTCTAGGAGCTGTGGCCCGTGGGCAACCGCGGCTTTCTGG
AGCGCGCGCCCGTGACGACCCCCAGTTTTGGGGCGCGCGCTCTGATATCGGGTGGCGGTGCTGCCTCGAGAGCGCGCAGGAGGCTTCTGCTGAGCAGAGGGCCGGCCGCGGCTCGTTGCGCTGGGAAG
GTTGAGGATTGGGTCCTTTCTGGTCTGGTGACGTTCCCGGGCATCCGTGGCCTCGGCCTGGAGAGAAACCAACCAGCTTTGCTGTCTGGCTTGCGGTTCCGCTCCTCTGTGAGGGGGGCGAGATTGCC
CGTTCTCCTCGAAGAATGCCGTTACTTGAGGCCCAAGTACGGTGCGGGTGCTTGGGAACCCTAAGGACTCTGCAATATGAATAATTCCCTAGAGAACACCATCTCCTTTGAAGAGTACATCCGAGTAA
AGGCACGGTCTGTCCCGCAACACAGGATGAAGGAATTTCTGGACTCACTGGCCTCTAAGGGGCCAGAAGCCCTTCAGGAGTTCCAGCAGACAGCCACCACTACCATGGTGTACCAACAGGGTGGGAAC
TGCATATACACAGACAGCACTGAAGTGGCTGGGTCTTTGCTTGAACTTGCCTGTCCAGTCACCACCAGTGTTCAGCCACAAACCCAGCAAGAACAGCAGATCCAGGTTCAGCAGCCGCAGCAGGTTCA
GGTCCAGGTGCAGGTACAGCAGTCTCCGCAACAGGTCTCGGCTCAGCTCTCCCCACAACTCACCGTTCACCAGCCTACTGAGCAACCCATCCAGGTCCAGGTGCAGATCCAAGGCCAGGCACCACAGT
CAGCAGCCCCCTCCATTCAGACCCCGTCTCTGCAGAGTCCCAGTCCCTCGCAGCTGCAAGCAGCTCAGATCCAGGTGCAGCACGTGCAAGCAGCCCAGCAGATCCAGGCTGCAGAAATCCCGGAGGAG
CACATCCCACATCAGCAAATCCAGGCTCAGCTGGTGGCTGGCCAGTCTCTTGCTGGTGGTCAGCAGATCCAAATCCAGACCGTGGGTGCCCTTTCCCCACCACCATCCCAGCAGGGCTCACCCCGGGA
AGGGGAGCGGCGGGTTGGCACGGCCAGTGTCCTCCAACCAGTGAAGAAGCGCAAAGTGGACATGCCCATCACTGTGTCCTACGCCATCTCAGGGCAGCCGGTGGCCACCGTGCTGGCCATTCCACAGG
GCCAGCAGCAGAGTTATGTGTCTTTGAGGCCAGACTTACTGACAGTAGACAGTGCCCACCTGTACAGTGCCACTGGGACCATTACTAGCCCTACAGGAGAAACCTGGACCATCCCTGTTTATTCTGCC
CAGCCCCGGGGGGACCCTCAGCAGCAGAGCATTACCCACATTGCCATTCCCCAGGAAGCCTACAACGCAGTTCACGTCAGTGGCTCACCCACAGCCCTGGCAGCTGTTAAGCTGGAGGATGACAAGGA
GAAGATGGTGGGCACCACATCTGTAGTGAAAAACTCCCATGAAGAGGTAGTGCAGACCCTTGCAAACTCTCTCTTTCCAGCACAGTTCATGAATGGCAACATCCACATTCCAGTGGCTGTGCAGGCTG
TGGCAGGCACGTACCAGAATACGGCTCAAACTGTCCATATATGGGACCCCCAACAGCAGCCGCAGCAGCAAACTCCCCAGGAACAGACACCACCACCACAGCAGCAGCAGCAGCAACTCCAAGTTACT
TGTTCAGCTCAAACTGTCCAGGTTGCTGAAGTTGAACCACAGTCACAGCCACAGCCTTCCCCAGAACTTCTGCTTCCAAATTCTTTGAAGCCAGAAGAAGGGCTTGAAGTATGGAAAAACTGGGCCCA
GACCAAGAATGCTGAACTAGAGAAGGATGCTCAGAACAGATTGGCACCCATTGGGAGGCGCCAACTGCTGCGATTCCAGGAAGATCTCATCTCCTCTGCTGTGGCAGAGTTGAATTATGGGCTCTGTC
TAATGACACGGGAAGCTCGAAATGGAGAAGGTGAACCCTATGACCCAGATGTGCTCTACTATATTTTCCTGTGTATTCAAAAGTATCTTTTTGAAAATGGAAGGGTAGATGACATTTTCTCCGATCTT
TATTATGTTCGGTTCACGGAGTGGCTACATGAAGTTCTGAAGGATGTTCAGCCCCGGGTCACTCCACTTGGCTATGTCTTGCCCAGCCACGTGACTGAGGAGATGCTATGGGAGTGCAAGCAGCTTGG
GGCTCACTCCCCCTCCACCTTGCTGACCACCCTCATGTTCTTTAATACCAAGTACTTCCTATTGAAGACAGTGGACCAGCACATGAAGCTGGCCTTCTCCAAGGTCTTGCGACAGACAAAGAAGAACC
CCTCTAATCCCAAGGATAAAAGCACGAGTATCCGGTACTTGAAGGCCCTTGGAATACACCAGACTGGCCAGAAAGTTACAGATGACATGTATGCAGAACAGACGGAAAATCCAGAGAATCCATTGAGA
TGTCCCATCAAGCTCTATGATTTCTACCTCTTCAAATGCCCCCAGAGTGTGAAAGGCCGGAATGACACCTTTTACCTGACACCTGAGCCAGTGGTGGCCCCCAACAGCCCAATCTGGTACTCAGTCCA
GCCTATCAGCAGAGAGCAGATGGGACAAATGCTGACGCGGATCCTGGTGATAAGAGAAATTCAGGAGGCCATCGCAGTGGCCAATGCAAGCACTATGCACTGAGATGCCTTGGCCATGGCACAAGAGA
AACCAGCCAGGAAAAACCAGACAGACTTTCACACTAAAGAAGAGGCCTCCATTTTTTTTTTTCTTTTTTTTATTGGTGTAGTTACGAAGCCTTTCAGGCTGCTTCTGTTTAAAATATAAAAGAAAACT
TTGCCCCCTTTGCATCTTCATAAACCTGCTGCGGCAGACTCCTCAGCCGATGGTGGCTCTGGGTTTCCTTGAGTGTCATATGTCCTAGAAAGTTGCTGGCTGACTCTTTTTTGTCTGGGGCCTGGGGA
AAGGGCTTGGACTGTGAAAAGAAATGTGGCCCCTTTCCATCTTCAAGAGAGATGGAATTAATGATGGATGGACCCTGGAGGGAATCTCCCCAGCCGACTTCCACTGGGCTGACAGACTTTGCTGACCA
CAGGGGAACGATGTTCTTTTCTTTCTTCATGATCAGACATAAACTTAGCATCTTAATGGAAGAAAAATGAGGGGAACTTCAATTATGATTTATTAAAGACAATTTCTATTACACCCTCCTTTATGACA
AGTGACATTTTAGATGTAAAAGTAAAAACTTTACCATGCCTTTTTTTTTTTTGTTGGCCTAACATTGAGGCCTTAAAACCTGAGGCTCCTGTGCCTGATGGAATTCTTGTAACATACACTTGTGTATC
ATATAAAGATACCACTCTGTTTCTCTTATGTATTCTTACTCTAGTTGTTTATTAAGAATGACAAGCACGTCTTTTCAACA

hide sequence

RefSeq Acc Id:

NM_001320583 ⟹ NP_001307512

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	49,029,707 - 49,093,610 (-)	NCBI
CHM1_1	3	49,019,701 - 49,083,860 (-)	NCBI
T2T-CHM13v2.0	3	49,057,747 - 49,121,678 (-)	NCBI

Sequence:

show sequence

GCGTTCCCGGCCCGGATATCTCTGCTCTAGGAGCTGTGGCCCGTGGGCAACCGCGGCTTTCTGGAGCGCGCGCCCGTGACGACCCCCAGTTTTGGGGCGCGCGCTCTGATATCGGGTGGCGGTGCTGC
CTCGAGAGCGCGCAGGAGGCTTCTGCTGAGCAGAGGGCCGGCCGCGGCTCGTTGCGCTGGGAAGGTTGAGGATTGGGTCCTTTCTGGTCTGGTGACGTTCCCGGGCATCCGTGGCCTCGGCCTGGAGA
GAAACCAACCAGCTTTGCTGTCTGGCTTGCGGTTCCGCTCCTCTGTGAGGGGGGCGAGATTGCCCGTTCTCCTCGAAGAATGCCGTTACTTGAGGCCCAAGAACCCTAAGGACTCTGCAATATGAATA
ATTCCCTAGAGAACACCATCTCCTTTGAAGAGTACATCCGAGTAAAGGCACGGTCTGTCCCGCAACACAGGATGAAGGAATTTCTGGACTCACTGGCCTCTAAGGGGCCAGAAGCCCTTCAGGAGTTC
CAGCAGACAGCCACCACTACCATGGTGTACCAACAGGGTGGGAACTGCATATACACAGACAGCACTGAAGTGGCTGGGTCTTTGCTTGAACTTGCCTGTCCAGTCACCACCAGTGTTCAGCCACAAAC
CCAGCAAGAACAGCAGATCCAGGTTCAGCAGCCGCAGCAGGTTCAGGTCCAGGTGCAGGTACAGCAGTCTCCGCAACAGGTCTCGGCTCAGCTCTCCCCACAACTCACCGTTCACCAGCCTACTGAGC
AACCCATCCAGGTCCAGGTGCAGATCCAAGGCCAGGCACCACAGTCAGCAGCCCCCTCCATTCAGACCCCGTCTCTGCAGAGTCCCAGTCCCTCGCAGCTGCAAGCAGCTCAGATCCAGGTGCAGCAC
GTGCAAGCAGCCCAGCAGATCCAGGCTGCAGAAATCCCGGAGGAGCACATCCCACATCAGCAAATCCAGGCTCAGCTGGTGGCTGGCCAGTCTCTTGCTGGTGGTCAGCAGATCCAAATCCAGACCGT
GGGTGCCCTTTCCCCACCACCATCCCAGCAGGGCTCACCCCGGGAAGGGGAGCGGCGGGTTGGCACGGCCAGTGTCCTCCAACCAGTGAAGAAGCGCAAAGTGGACATGCCCATCACTGTGTCCTACG
CCATCTCAGGGCAGCCGGTGGCCACCGTGCTGGCCATTCCACAGGGCCAGCAGCAGAGTTATGTGTCTTTGAGGCCAGACTTACTGACAGTAGACAGTGCCCACCTGTACAGTGCCACTGGGACCATT
ACTAGCCCTACAGGAGAAACCTGGACCATCCCTGTTTATTCTGCCCAGCCCCGGGGGGACCCTCAGCAGCAGAGCATTACCCACATTGCCATTCCCCAGGAAGCCTACAACGCAGTTCACGTCAGTGG
CTCACCCACAGCCCTGGCAGCTGTTAAGCTGGAGGATGACAAGGAGAAGATGGTGGGCACCACATCTGTAGTGAAAAACTCCCATGAAGAGGTAGTGCAGACCCTTGCAAACTCTCTCTTTCCAGCAC
AGTTCATGAATGGCAACATCCACATTCCAGTGGCTGTGCAGGCTGTGGCAGGCACGTACCAGAATACGGCTCAAACTGTCCATATATGGGACCCCCAACAGCAGCCGCAGCAGCAAACTCCCCAGGAA
CAGACACCACCACCACAGCAGCAGCAGCAGCAACTCCAAGTTACTTGTTCAGCTCAAACTGTCCAGGTTGCTGAAGTTGAACCACAGTCACAGCCACAGCCTTCCCCAGAACTTCTGCTTCCAAATTC
TTTGAAGCCAGAAGAAGGGCTTGAAGTATGGAAAAACTGGGCCCAGACCAAGAATGCTGAACTAGAGAAGGATGCTCAGAACAGATTGGCACCCATTGGGAGGCGCCAACTGCTGCGATTCCAGGAAG
ATCTCATCTCCTCTGCTGTGGCAGAGTTGAATTATGGGCTCTGTCTAATGACACGGGAAGCTCGAAATGGAGAAGGTGAACCCTATGACCCAGATGTGCTCTACTATATTTTCCTGTGTATTCAAAAG
TATCTTTTTGAAAATGGAAGGGTAGATGACATTTTCTCCGATCTTTATTATGTTCGGTTCACGGAGTGGCTACATGAAGTTCTGAAGGATGTTCAGCCCCGGGTCACTCCACTTGGCTATGTCTTGCC
CAGCCACGTGACTGAGGAGATGCTATGGGAGTGCAAGCAGCTTGGGGCTCACTCCCCCTCCACCTTGCTGACCACCCTCATGTTCTTTAATACCAAGTACTTCCTATTGAAGACAGTGGACCAGCACA
TGAAGCTGGCCTTCTCCAAGGTCTTGCGACAGACAAAGAAGAACCCCTCTAATCCCAAGGATAAAAGCACGAGTATCCGGTACTTGAAGGCCCTTGGAATACACCAGACTGGCCAGAAAGTTACAGAT
GACATGTATGCAGAACAGACGGAAAATCCAGAGAATCCATTGAGATGTCCCATCAAGCTCTATGATTTCTACCTCTTCAAATGCCCCCAGAGTGTGAAAGGCCGGAATGACACCTTTTACCTGACACC
TGAGCCAGTGGTGGCCCCCAACAGCCCAATCTGGTACTCAGTCCAGCCTATCAGCAGAGAGCAGATGGGACAAATGCTGACGCGGATCCTGGTGATAAGAGAAATTCAGGAGGCCATCGCAGTGGCCA
ATGCAAGCACTATGCACTGAGATGCCTTGGCCATGGCACAAGAGAAACCAGCCAGGAAAAACCAGACAGACTTTCACACTAAAGAAGAGGCCTCCATTTTTTTTTTTCTTTTTTTTATTGGTGTAGTT
ACGAAGCCTTTCAGGCTGCTTCTGTTTAAAATATAAAAGAAAACTTTGCCCCCTTTGCATCTTCATAAACCTGCTGCGGCAGACTCCTCAGCCGATGGTGGCTCTGGGTTTCCTTGAGTGTCATATGT
CCTAGAAAGTTGCTGGCTGACTCTTTTTTGTCTGGGGCCTGGGGAAAGGGCTTGGACTGTGAAAAGAAATGTGGCCCCTTTCCATCTTCAAGAGAGATGGAATTAATGATGGATGGACCCTGGAGGGA
ATCTCCCCAGCCGACTTCCACTGGGCTGACAGACTTTGCTGACCACAGGGGAACGATGTTCTTTTCTTTCTTCATGATCAGACATAAACTTAGCATCTTAATGGAAGAAAAATGAGGGGAACTTCAAT
TATGATTTATTAAAGACAATTTCTATTACACCCTCCTTTATGACAAGTGACATTTTAGATGTAAAAGTAAAAACTTTACCATGCCTTTTTTTTTTTTGTTGGCCTAACATTGAGGCCTTAAAACCTGA
GGCTCCTGTGCCTGATGGAATTCTTGTAACATACACTTGTGTATCATATAAAGATACCACTCTGTTTCTCTTATGTATTCTTACTCTAGTTGTTTATTAAGAATGACAAGCACGTCTTTTCAACA

hide sequence

RefSeq Acc Id:

NM_001320584 ⟹ NP_001307513

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	49,029,707 - 49,094,373 (-)	NCBI
CHM1_1	3	49,019,701 - 49,084,601 (-)	NCBI
T2T-CHM13v2.0	3	49,057,747 - 49,122,441 (-)	NCBI

Sequence:

show sequence

GTGCTCGACCAAAGGAGGCTCTGGCGGGCGACGGAAGGAACCCTAAGGACTCTGCAATATGAATAATTCCCTAGAGAACACCATCTCCTTTGAAGAGTACATCCGAGTAAAGGCACGGTCTGTCCCGC
AACACAGGATGAAGGAATTTCTGGACTCACTGGCCTCTAAGGGGCCAGAAGCCCTTCAGGAGTTCCAGCAGACAGCCACCACTACCATGGTGTACCAACAGGGTGGGAACTGCATATACACAGACAGC
ACTGAAGTGGCTGGGTCTTTGCTTGAACTTGCCTGTCCAGTCACCACCAGTGTTCAGCCACAAACCCAGCAAGAACAGCAGATCCAGGTTCAGCAGCCGCAGCAGGTTCAGGTCCAGGTGCAGGTACA
GCAGTCTCCGCAACAGGTCTCGGCTCAGCTCTCCCCACAACTCACCGTTCACCAGCCTACTGAGCAACCCATCCAGGTCCAGGTGCAGATCCAAGGCCAGGCACCACAGTCAGCAGCCCCCTCCATTC
AGACCCCGTCTCTGCAGAGTCCCAGTCCCTCGCAGCTGCAAGCAGCTCAGATCCAGGTGCAGCACGTGCAAGCAGCCCAGCAGATCCAGGCTGCAGAAATCCCGGAGGAGCACATCCCACATCAGCAA
ATCCAGGCTCAGCTGGTGGCTGGCCAGTCTCTTGCTGGTGGTCAGCAGATCCAAATCCAGACCGTGGGTGCCCTTTCCCCACCACCATCCCAGCAGGGCTCACCCCGGGAAGGGGAGCGGCGGGTTGG
CACGGCCAGTGTCCTCCAACCAGTGAAGAAGCGCAAAGTGGACATGCCCATCACTGTGTCCTACGCCATCTCAGGGCAGCCGGTGGCCACCGTGCTGGCCATTCCACAGGGCCAGCAGCAGAGTTATG
TGTCTTTGAGGCCAGACTTACTGACAGTAGACAGTGCCCACCTGTACAGTGCCACTGGGACCATTACTAGCCCTACAGGAGAAACCTGGACCATCCCTGTTTATTCTGCCCAGCCCCGGGGGGACCCT
CAGCAGCAGAGCATTACCCACATTGCCATTCCCCAGGAAGCCTACAACGCAGTTCACGTCAGTGGCTCACCCACAGCCCTGGCAGCTGTTAAGCTGGAGGATGACAAGGAGAAGATGGTGGGCACCAC
ATCTGTAGTGAAAAACTCCCATGAAGAGGTAGTGCAGACCCTTGCAAACTCTCTCTTTCCAGCACAGTTCATGAATGGCAACATCCACATTCCAGTGGCTGTGCAGGCTGTGGCAGGCACGTACCAGA
ATACGGCTCAAACTGTCCATATATGGGACCCCCAACAGCAGCCGCAGCAGCAAACTCCCCAGGAACAGACACCACCACCACAGCAGCAGCAGCAGCAACTCCAAGTTACTTGTTCAGCTCAAACTGTC
CAGGTTGCTGAAGTTGAACCACAGTCACAGCCACAGCCTTCCCCAGAACTTCTGCTTCCAAATTCTTTGAAGCCAGAAGAAGGGCTTGAAGTATGGAAAAACTGGGCCCAGACCAAGAATGCTGAACT
AGAGAAGGATGCTCAGAACAGATTGGCACCCATTGGGAGGCGCCAACTGCTGCGATTCCAGGAAGATCTCATCTCCTCTGCTGTGGCAGAGTTGAATTATGGGCTCTGTCTAATGACACGGGAAGCTC
GAAATGGAGAAGGTGAACCCTATGACCCAGATGTGCTCTACTATATTTTCCTGTGTATTCAAAAGTATCTTTTTGAAAATGGAAGGGTAGATGACATTTTCTCCGATCTTTATTATGTTCGGTTCACG
GAGTGGCTACATGAAGTTCTGAAGGATGTTCAGCCCCGGGTCACTCCACTTGGCTATGTCTTGCCCAGCCACGTGACTGAGGAGATGCTATGGGAGTGCAAGCAGCTTGGGGCTCACTCCCCCTCCAC
CTTGCTGACCACCCTCATGTTCTTTAATACCAAGTACTTCCTATTGAAGACAGTGGACCAGCACATGAAGCTGGCCTTCTCCAAGGTCTTGCGACAGACAAAGAAGAACCCCTCTAATCCCAAGGATA
AAAGCACGAGTATCCGGTACTTGAAGGCCCTTGGAATACACCAGACTGGCCAGAAAGTTACAGATGACATGTATGCAGAACAGACGGAAAATCCAGAGAATCCATTGAGATGTCCCATCAAGCTCTAT
GATTTCTACCTCTTCAAATGCCCCCAGAGTGTGAAAGGCCGGAATGACACCTTTTACCTGACACCTGAGCCAGTGGTGGCCCCCAACAGCCCAATCTGGTACTCAGTCCAGCCTATCAGCAGAGAGCA
GATGGGACAAATGCTGACGCGGATCCTGGTGATAAGAGAAATTCAGGAGGCCATCGCAGTGGCCAATGCAAGCACTATGCACTGAGATGCCTTGGCCATGGCACAAGAGAAACCAGCCAGGAAAAACC
AGACAGACTTTCACACTAAAGAAGAGGCCTCCATTTTTTTTTTTCTTTTTTTTATTGGTGTAGTTACGAAGCCTTTCAGGCTGCTTCTGTTTAAAATATAAAAGAAAACTTTGCCCCCTTTGCATCTT
CATAAACCTGCTGCGGCAGACTCCTCAGCCGATGGTGGCTCTGGGTTTCCTTGAGTGTCATATGTCCTAGAAAGTTGCTGGCTGACTCTTTTTTGTCTGGGGCCTGGGGAAAGGGCTTGGACTGTGAA
AAGAAATGTGGCCCCTTTCCATCTTCAAGAGAGATGGAATTAATGATGGATGGACCCTGGAGGGAATCTCCCCAGCCGACTTCCACTGGGCTGACAGACTTTGCTGACCACAGGGGAACGATGTTCTT
TTCTTTCTTCATGATCAGACATAAACTTAGCATCTTAATGGAAGAAAAATGAGGGGAACTTCAATTATGATTTATTAAAGACAATTTCTATTACACCCTCCTTTATGACAAGTGACATTTTAGATGTA
AAAGTAAAAACTTTACCATGCCTTTTTTTTTTTTGTTGGCCTAACATTGAGGCCTTAAAACCTGAGGCTCCTGTGCCTGATGGAATTCTTGTAACATACACTTGTGTATCATATAAAGATACCACTCT
GTTTCTCTTATGTATTCTTACTCTAGTTGTTTATTAAGAATGACAAGCACGTCTTTTCAACAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001320585 ⟹ NP_001307514

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	49,029,707 - 49,094,373 (-)	NCBI
CHM1_1	3	49,019,701 - 49,084,601 (-)	NCBI
T2T-CHM13v2.0	3	49,057,747 - 49,122,441 (-)	NCBI

Sequence:

show sequence

GTGCTCGACCAAAGGAGGCTCTGGCGGGCGACGGAAGGTGGGTCCAAAGAGCTAGCTTGGAGCCCTAGCCTTCCGAGACTCCACTACTAGGCCAAGCCACGGCCCTAGCTCCGCCCCACATGGAGAGG
CGTCCATGGGCGGAGCGAGCCGCTCCATACCCTAGGATCCACTATCCGCTCTAGCGGCCAGAAGCGCGGCCACCTTCCCCTGCTGAAGCGTTCACTTTAATTTTGGCCGGAACCCTAAGGACTCTGCA
ATATGAATAATTCCCTAGAGAACACCATCTCCTTTGAAGAGTACATCCGAGTAAAGGCACGGTCTGTCCCGCAACACAGGATGAAGGAATTTCTGGACTCACTGGCCTCTAAGGGGCCAGAAGCCCTT
CAGGAGTTCCAGCAGACAGCCACCACTACCATGGTGTACCAACAGGGTGGGAACTGCATATACACAGACAGCACTGAAGTGGCTGGGTCTTTGCTTGAACTTGCCTGTCCAGTCACCACCAGTGTTCA
GCCACAAACCCAGCAAGAACAGCAGATCCAGGTTCAGCAGCCGCAGCAGGTTCAGGTCCAGGTGCAGGTACAGCAGTCTCCGCAACAGGTCTCGGCTCAGCTCTCCCCACAACTCACCGTTCACCAGC
CTACTGAGCAACCCATCCAGGTCCAGGTGCAGATCCAAGGCCAGGCACCACAGTCAGCAGCCCCCTCCATTCAGACCCCGTCTCTGCAGAGTCCCAGTCCCTCGCAGCTGCAAGCAGCTCAGATCCAG
GTGCAGCACGTGCAAGCAGCCCAGCAGATCCAGGCTGCAGAAATCCCGGAGGAGCACATCCCACATCAGCAAATCCAGGCTCAGCTGGTGGCTGGCCAGTCTCTTGCTGGTGGTCAGCAGATCCAAAT
CCAGACCGTGGGTGCCCTTTCCCCACCACCATCCCAGCAGGGCTCACCCCGGGAAGGGGAGCGGCGGGTTGGCACGGCCAGTGTCCTCCAACCAGTGAAGAAGCGCAAAGTGGACATGCCCATCACTG
TGTCCTACGCCATCTCAGGGCAGCCGGTGGCCACCGTGCTGGCCATTCCACAGGGCCAGCAGCAGAGTTATGTGTCTTTGAGGCCAGACTTACTGACAGTAGACAGTGCCCACCTGTACAGTGCCACT
GGGACCATTACTAGCCCTACAGGAGAAACCTGGACCATCCCTGTTTATTCTGCCCAGCCCCGGGGGGACCCTCAGCAGCAGAGCATTACCCACATTGCCATTCCCCAGGAAGCCTACAACGCAGTTCA
CGTCAGTGGCTCACCCACAGCCCTGGCAGCTGTTAAGCTGGAGGATGACAAGGAGAAGATGGTGGGCACCACATCTGTAGTGAAAAACTCCCATGAAGAGGTAGTGCAGACCCTTGCAAACTCTCTCT
TTCCAGCACAGTTCATGAATGGCAACATCCACATTCCAGTGGCTGTGCAGGCTGTGGCAGGCACGTACCAGAATACGGCTCAAACTGTCCATATATGGGACCCCCAACAGCAGCCGCAGCAGCAAACT
CCCCAGGAACAGACACCACCACCACAGCAGCAGCAGCAGCAACTCCAAGTTACTTGTTCAGCTCAAACTGTCCAGGTTGCTGAAGTTGAACCACAGTCACAGCCACAGCCTTCCCCAGAACTTCTGCT
TCCAAATTCTTTGAAGCCAGAAGAAGGGCTTGAAGTATGGAAAAACTGGGCCCAGACCAAGAATGCTGAACTAGAGAAGGATGCTCAGAACAGATTGGCACCCATTGGGAGGCGCCAACTGCTGCGAT
TCCAGGAAGATCTCATCTCCTCTGCTGTGGCAGAGTTGAATTATGGGCTCTGTCTAATGACACGGGAAGCTCGAAATGGAGAAGGTGAACCCTATGACCCAGATGTGCTCTACTATATTTTCCTGTGT
ATTCAAAAGTATCTTTTTGAAAATGGAAGGGTAGATGACATTTTCTCCGATCTTTATTATGTTCGGTTCACGGAGTGGCTACATGAAGTTCTGAAGGATGTTCAGCCCCGGGTCACTCCACTTGGCTA
TGTCTTGCCCAGCCACGTGACTGAGGAGATGCTATGGGAGTGCAAGCAGCTTGGGGCTCACTCCCCCTCCACCTTGCTGACCACCCTCATGTTCTTTAATACCAAGTACTTCCTATTGAAGACAGTGG
ACCAGCACATGAAGCTGGCCTTCTCCAAGGTCTTGCGACAGACAAAGAAGAACCCCTCTAATCCCAAGGATAAAAGCACGAGTATCCGGTACTTGAAGGCCCTTGGAATACACCAGACTGGCCAGAAA
GTTACAGATGACATGTATGCAGAACAGACGGAAAATCCAGAGAATCCATTGAGATGTCCCATCAAGCTCTATGATTTCTACCTCTTCAAATGCCCCCAGAGTGTGAAAGGCCGGAATGACACCTTTTA
CCTGACACCTGAGCCAGTGGTGGCCCCCAACAGCCCAATCTGGTACTCAGTCCAGCCTATCAGCAGAGAGCAGATGGGACAAATGCTGACGCGGATCCTGGTGATAAGAGAAATTCAGGAGGCCATCG
CAGTGGCCAATGCAAGCACTATGCACTGAGATGCCTTGGCCATGGCACAAGAGAAACCAGCCAGGAAAAACCAGACAGACTTTCACACTAAAGAAGAGGCCTCCATTTTTTTTTTTCTTTTTTTTATT
GGTGTAGTTACGAAGCCTTTCAGGCTGCTTCTGTTTAAAATATAAAAGAAAACTTTGCCCCCTTTGCATCTTCATAAACCTGCTGCGGCAGACTCCTCAGCCGATGGTGGCTCTGGGTTTCCTTGAGT
GTCATATGTCCTAGAAAGTTGCTGGCTGACTCTTTTTTGTCTGGGGCCTGGGGAAAGGGCTTGGACTGTGAAAAGAAATGTGGCCCCTTTCCATCTTCAAGAGAGATGGAATTAATGATGGATGGACC
CTGGAGGGAATCTCCCCAGCCGACTTCCACTGGGCTGACAGACTTTGCTGACCACAGGGGAACGATGTTCTTTTCTTTCTTCATGATCAGACATAAACTTAGCATCTTAATGGAAGAAAAATGAGGGG
AACTTCAATTATGATTTATTAAAGACAATTTCTATTACACCCTCCTTTATGACAAGTGACATTTTAGATGTAAAAGTAAAAACTTTACCATGCCTTTTTTTTTTTTGTTGGCCTAACATTGAGGCCTT
AAAACCTGAGGCTCCTGTGCCTGATGGAATTCTTGTAACATACACTTGTGTATCATATAAAGATACCACTCTGTTTCTCTTATGTATTCTTACTCTAGTTGTTTATTAAGAATGACAAGCACGTCTTT
TCAACAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_017730 ⟹ NP_060200

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	49,029,707 - 49,094,071 (-)	NCBI
GRCh37	3	49,067,140 - 49,131,504 (-)	NCBI
Build 36	3	49,042,146 - 49,106,508 (-)	NCBI Archive
Celera	3	49,023,864 - 49,088,466 (-)	RGD
HuRef	3	49,125,007 - 49,190,034 (-)	ENTREZGENE
CHM1_1	3	49,019,701 - 49,084,601 (-)	NCBI
T2T-CHM13v2.0	3	49,057,747 - 49,122,139 (-)	NCBI

Sequence:

show sequence

ATTGGCTGTGAGGGTTGAATGTAAGATGGCGCCCAGGGAGCTGTGAGGAGAAAACCCTGTCGGT
CTTGGAGCGACGACGGCAGAACCAGGGTCCCTGGCGGTGCGGCGGGGCCGGCGGGTGCAGCGGAGGCGGCGGCGGCGGCGGCAGTGACGTCGCCGGAATATTAGAAGTCTTAAGAACTCAGGACAAGC
AGCAGAAATACATGCAACATGGTGACTGGAACCCTAAGGACTCTGCAATATGAATAATTCCCTAGAGAACACCATCTCCTTTGAAGAGTACATCCGAGTAAAGGCACGGTCTGTCCCGCAACACAGGA
TGAAGGAATTTCTGGACTCACTGGCCTCTAAGGGGCCAGAAGCCCTTCAGGAGTTCCAGCAGACAGCCACCACTACCATGGTGTACCAACAGGGTGGGAACTGCATATACACAGACAGCACTGAAGTG
GCTGGGTCTTTGCTTGAACTTGCCTGTCCAGTCACCACCAGTGTTCAGCCACAAACCCAGCAAGAACAGCAGATCCAGGTTCAGCAGCCGCAGCAGGTTCAGGTCCAGGTGCAGGTACAGCAGTCTCC
GCAACAGGTCTCGGCTCAGCTCTCCCCACAACTCACCGTTCACCAGCCTACTGAGCAACCCATCCAGGTCCAGGTGCAGATCCAAGGCCAGGCACCACAGTCAGCAGCCCCCTCCATTCAGACCCCGT
CTCTGCAGAGTCCCAGTCCCTCGCAGCTGCAAGCAGCTCAGATCCAGGTGCAGCACGTGCAAGCAGCCCAGCAGATCCAGGCTGCAGAAATCCCGGAGGAGCACATCCCACATCAGCAAATCCAGGCT
CAGCTGGTGGCTGGCCAGTCTCTTGCTGGTGGTCAGCAGATCCAAATCCAGACCGTGGGTGCCCTTTCCCCACCACCATCCCAGCAGGGCTCACCCCGGGAAGGGGAGCGGCGGGTTGGCACGGCCAG
TGTCCTCCAACCAGTGAAGAAGCGCAAAGTGGACATGCCCATCACTGTGTCCTACGCCATCTCAGGGCAGCCGGTGGCCACCGTGCTGGCCATTCCACAGGGCCAGCAGCAGAGTTATGTGTCTTTGA
GGCCAGACTTACTGACAGTAGACAGTGCCCACCTGTACAGTGCCACTGGGACCATTACTAGCCCTACAGGAGAAACCTGGACCATCCCTGTTTATTCTGCCCAGCCCCGGGGGGACCCTCAGCAGCAG
AGCATTACCCACATTGCCATTCCCCAGGAAGCCTACAACGCAGTTCACGTCAGTGGCTCACCCACAGCCCTGGCAGCTGTTAAGCTGGAGGATGACAAGGAGAAGATGGTGGGCACCACATCTGTAGT
GAAAAACTCCCATGAAGAGGTAGTGCAGACCCTTGCAAACTCTCTCTTTCCAGCACAGTTCATGAATGGCAACATCCACATTCCAGTGGCTGTGCAGGCTGTGGCAGGCACGTACCAGAATACGGCTC
AAACTGTCCATATATGGGACCCCCAACAGCAGCCGCAGCAGCAAACTCCCCAGGAACAGACACCACCACCACAGCAGCAGCAGCAGCAACTCCAAGTTACTTGTTCAGCTCAAACTGTCCAGGTTGCT
GAAGTTGAACCACAGTCACAGCCACAGCCTTCCCCAGAACTTCTGCTTCCAAATTCTTTGAAGCCAGAAGAAGGGCTTGAAGTATGGAAAAACTGGGCCCAGACCAAGAATGCTGAACTAGAGAAGGA
TGCTCAGAACAGATTGGCACCCATTGGGAGGCGCCAACTGCTGCGATTCCAGGAAGATCTCATCTCCTCTGCTGTGGCAGAGTTGAATTATGGGCTCTGTCTAATGACACGGGAAGCTCGAAATGGAG
AAGGTGAACCCTATGACCCAGATGTGCTCTACTATATTTTCCTGTGTATTCAAAAGTATCTTTTTGAAAATGGAAGGGTAGATGACATTTTCTCCGATCTTTATTATGTTCGGTTCACGGAGTGGCTA
CATGAAGTTCTGAAGGATGTTCAGCCCCGGGTCACTCCACTTGGCTATGTCTTGCCCAGCCACGTGACTGAGGAGATGCTATGGGAGTGCAAGCAGCTTGGGGCTCACTCCCCCTCCACCTTGCTGAC
CACCCTCATGTTCTTTAATACCAAGTACTTCCTATTGAAGACAGTGGACCAGCACATGAAGCTGGCCTTCTCCAAGGTCTTGCGACAGACAAAGAAGAACCCCTCTAATCCCAAGGATAAAAGCACGA
GTATCCGGTACTTGAAGGCCCTTGGAATACACCAGACTGGCCAGAAAGTTACAGATGACATGTATGCAGAACAGACGGAAAATCCAGAGAATCCATTGAGATGTCCCATCAAGCTCTATGATTTCTAC
CTCTTCAAATGCCCCCAGAGTGTGAAAGGCCGGAATGACACCTTTTACCTGACACCTGAGCCAGTGGTGGCCCCCAACAGCCCAATCTGGTACTCAGTCCAGCCTATCAGCAGAGAGCAGATGGGACA
AATGCTGACGCGGATCCTGGTGATAAGAGAAATTCAGGAGGCCATCGCAGTGGCCAATGCAAGCACTATGCACTGAGATGCCTTGGCCATGGCACAAGAGAAACCAGCCAGGAAAAACCAGACAGACT
TTCACACTAAAGAAGAGGCCTCCATTTTTTTTTTTCTTTTTTTTATTGGTGTAGTTACGAAGCCTTTCAGGCTGCTTCTGTTTAAAATATAAAAGAAAACTTTGCCCCCTTTGCATCTTCATAAACCT
GCTGCGGCAGACTCCTCAGCCGATGGTGGCTCTGGGTTTCCTTGAGTGTCATATGTCCTAGAAAGTTGCTGGCTGACTCTTTTTTGTCTGGGGCCTGGGGAAAGGGCTTGGACTGTGAAAAGAAATGT
GGCCCCTTTCCATCTTCAAGAGAGATGGAATTAATGATGGATGGACCCTGGAGGGAATCTCCCCAGCCGACTTCCACTGGGCTGACAGACTTTGCTGACCACAGGGGAACGATGTTCTTTTCTTTCTT
CATGATCAGACATAAACTTAGCATCTTAATGGAAGAAAAATGAGGGGAACTTCAATTATGATTTATTAAAGACAATTTCTATTACACCCTCCTTTATGACAAGTGACATTTTAGATGTAAAAGTAAAA
ACTTTACCATGCCTTTTTTTTTTTTGTTGGCCTAACATTGAGGCCTTAAAACCTGAGGCTCCTGTGCCTGATGGAATTCTTGTAACATACACTTGTGTATCATATAAAGATACCACTCTGTTTCTCTT
ATGTATTCTTACTCTAGTTGTTTATTAAGAATGACAAGCACGTCTTTTCAACA

hide sequence

RefSeq Acc Id:

NM_198880 ⟹ NP_942581

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	49,029,707 - 49,094,071 (-)	NCBI
GRCh37	3	49,067,140 - 49,131,504 (-)	NCBI
Build 36	3	49,042,146 - 49,106,508 (-)	NCBI Archive
Celera	3	49,023,864 - 49,088,466 (-)	RGD
HuRef	3	49,125,007 - 49,190,034 (-)	ENTREZGENE
CHM1_1	3	49,019,701 - 49,084,601 (-)	NCBI
T2T-CHM13v2.0	3	49,057,747 - 49,122,139 (-)	NCBI

Sequence:

show sequence

ATTGGCTGTGAGGGTTGAATGTAAGATGGCGCCCAGGGAGCTGTGAGGAGAAAACCCTGTCGGT
CTTGGAGCGACGACGGCAGAACCAGGGTCCCTGGCGGTGCGGCGGGGCCGGCGGGTGCAGCGGAGGCGGCGGCGGCGGCGGCAGTGACGTCGCCGGGAACCCTAAGGACTCTGCAATATGAATAATTC
CCTAGAGAACACCATCTCCTTTGAAGAGTACATCCGAGTAAAGGCACGGTCTGTCCCGCAACACAGGATGAAGGAATTTCTGGACTCACTGGCCTCTAAGGGGCCAGAAGCCCTTCAGGAGTTCCAGC
AGACAGCCACCACTACCATGGTGTACCAACAGGGTGGGAACTGCATATACACAGACAGCACTGAAGTGGCTGGGTCTTTGCTTGAACTTGCCTGTCCAGTCACCACCAGTGTTCAGCCACAAACCCAG
CAAGAACAGCAGATCCAGGTTCAGCAGCCGCAGCAGGTTCAGGTCCAGGTGCAGGTACAGCAGTCTCCGCAACAGGTCTCGGCTCAGCTCTCCCCACAACTCACCGTTCACCAGCCTACTGAGCAACC
CATCCAGGTCCAGGTGCAGATCCAAGGCCAGGCACCACAGTCAGCAGCCCCCTCCATTCAGACCCCGTCTCTGCAGAGTCCCAGTCCCTCGCAGCTGCAAGCAGCTCAGATCCAGGTGCAGCACGTGC
AAGCAGCCCAGCAGATCCAGGCTGCAGAAATCCCGGAGGAGCACATCCCACATCAGCAAATCCAGGCTCAGCTGGTGGCTGGCCAGTCTCTTGCTGGTGGTCAGCAGATCCAAATCCAGACCGTGGGT
GCCCTTTCCCCACCACCATCCCAGCAGGGCTCACCCCGGGAAGGGGAGCGGCGGGTTGGCACGGCCAGTGTCCTCCAACCAGTGAAGAAGCGCAAAGTGGACATGCCCATCACTGTGTCCTACGCCAT
CTCAGGGCAGCCGGTGGCCACCGTGCTGGCCATTCCACAGGGCCAGCAGCAGAGTTATGTGTCTTTGAGGCCAGACTTACTGACAGTAGACAGTGCCCACCTGTACAGTGCCACTGGGACCATTACTA
GCCCTACAGGAGAAACCTGGACCATCCCTGTTTATTCTGCCCAGCCCCGGGGGGACCCTCAGCAGCAGAGCATTACCCACATTGCCATTCCCCAGGAAGCCTACAACGCAGTTCACGTCAGTGGCTCA
CCCACAGCCCTGGCAGCTGTTAAGCTGGAGGATGACAAGGAGAAGATGGTGGGCACCACATCTGTAGTGAAAAACTCCCATGAAGAGGTAGTGCAGACCCTTGCAAACTCTCTCTTTCCAGCACAGTT
CATGAATGGCAACATCCACATTCCAGTGGCTGTGCAGGCTGTGGCAGGCACGTACCAGAATACGGCTCAAACTGTCCATATATGGGACCCCCAACAGCAGCCGCAGCAGCAAACTCCCCAGGAACAGA
CACCACCACCACAGCAGCAGCAGCAGCAACTCCAAGTTACTTGTTCAGCTCAAACTGTCCAGGTTGCTGAAGTTGAACCACAGTCACAGCCACAGCCTTCCCCAGAACTTCTGCTTCCAAATTCTTTG
AAGCCAGAAGAAGGGCTTGAAGTATGGAAAAACTGGGCCCAGACCAAGAATGCTGAACTAGAGAAGGATGCTCAGAACAGATTGGCACCCATTGGGAGGCGCCAACTGCTGCGATTCCAGGAAGATCT
CATCTCCTCTGCTGTGGCAGAGTTGAATTATGGGCTCTGTCTAATGACACGGGAAGCTCGAAATGGAGAAGGTGAACCCTATGACCCAGATGTGCTCTACTATATTTTCCTGTGTATTCAAAAGTATC
TTTTTGAAAATGGAAGGGTAGATGACATTTTCTCCGATCTTTATTATGTTCGGTTCACGGAGTGGCTACATGAAGTTCTGAAGGATGTTCAGCCCCGGGTCACTCCACTTGGCTATGTCTTGCCCAGC
CACGTGACTGAGGAGATGCTATGGGAGTGCAAGCAGCTTGGGGCTCACTCCCCCTCCACCTTGCTGACCACCCTCATGTTCTTTAATACCAAGTACTTCCTATTGAAGACAGTGGACCAGCACATGAA
GCTGGCCTTCTCCAAGGTCTTGCGACAGACAAAGAAGAACCCCTCTAATCCCAAGGATAAAAGCACGAGTATCCGGTACTTGAAGGCCCTTGGAATACACCAGACTGGCCAGAAAGTTACAGATGACA
TGTATGCAGAACAGACGGAAAATCCAGAGAATCCATTGAGATGTCCCATCAAGCTCTATGATTTCTACCTCTTCAAATGCCCCCAGAGTGTGAAAGGCCGGAATGACACCTTTTACCTGACACCTGAG
CCAGTGGTGGCCCCCAACAGCCCAATCTGGTACTCAGTCCAGCCTATCAGCAGAGAGCAGATGGGACAAATGCTGACGCGGATCCTGGTGATAAGAGAAATTCAGGAGGCCATCGCAGTGGCCAATGC
AAGCACTATGCACTGAGATGCCTTGGCCATGGCACAAGAGAAACCAGCCAGGAAAAACCAGACAGACTTTCACACTAAAGAAGAGGCCTCCATTTTTTTTTTTCTTTTTTTTATTGGTGTAGTTACGA
AGCCTTTCAGGCTGCTTCTGTTTAAAATATAAAAGAAAACTTTGCCCCCTTTGCATCTTCATAAACCTGCTGCGGCAGACTCCTCAGCCGATGGTGGCTCTGGGTTTCCTTGAGTGTCATATGTCCTA
GAAAGTTGCTGGCTGACTCTTTTTTGTCTGGGGCCTGGGGAAAGGGCTTGGACTGTGAAAAGAAATGTGGCCCCTTTCCATCTTCAAGAGAGATGGAATTAATGATGGATGGACCCTGGAGGGAATCT
CCCCAGCCGACTTCCACTGGGCTGACAGACTTTGCTGACCACAGGGGAACGATGTTCTTTTCTTTCTTCATGATCAGACATAAACTTAGCATCTTAATGGAAGAAAAATGAGGGGAACTTCAATTATG
ATTTATTAAAGACAATTTCTATTACACCCTCCTTTATGACAAGTGACATTTTAGATGTAAAAGTAAAAACTTTACCATGCCTTTTTTTTTTTTGTTGGCCTAACATTGAGGCCTTAAAACCTGAGGCT
CCTGTGCCTGATGGAATTCTTGTAACATACACTTGTGTATCATATAAAGATACCACTCTGTTTCTCTTATGTATTCTTACTCTAGTTGTTTATTAAGAATGACAAGCACGTCTTTTCAACA

hide sequence

RefSeq Acc Id:

XM_011533863 ⟹ XP_011532165

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	49,029,707 - 49,094,071 (-)	NCBI

Sequence:

show sequence

ATTGGCTGTGAGGGTTGAATGTAAGATGGCGCCCAGGGAGCTGTGAGGAGAAAACCCTGTCGGTCTTGGAGCGACGACGGCAGAACCAGGGTCCCTGGCGGTGCGGCGGGGCCGGCGGGTGCAGCGGA
GGCGGCGGCGGCGGCGGCAGTGACGTCGCCGGGTGAGGGCTCCAGTGCGGGAACCCTAAGGACTCTGCAATATGAATAATTCCCTAGAGAACACCATCTCCTTTGAAGAGTACATCCGAGTAAAGGCA
CGGTCTGTCCCGCAACACAGGATGAAGGAATTTCTGGACTCACTGGCCTCTAAGGGGCCAGAAGCCCTTCAGGAGTTCCAGCAGACAGCCACCACTACCATGGTGTACCAACAGGGTGGGAACTGCAT
ATACACAGACAGCACTGAAGTGGCTGGGTCTTTGCTTGAACTTGCCTGTCCAGTCACCACCAGTGTTCAGCCACAAACCCAGCAAGAACAGCAGATCCAGGTTCAGCAGCCGCAGCAGGTTCAGGTCC
AGGTGCAGGTACAGCAGTCTCCGCAACAGGTCTCGGCTCAGCTCTCCCCACAACTCACCGTTCACCAGCCTACTGAGCAACCCATCCAGGTCCAGGTGCAGATCCAAGGCCAGGCACCACAGTCAGCA
GCCCCCTCCATTCAGACCCCGTCTCTGCAGAGTCCCAGTCCCTCGCAGCTGCAAGCAGCTCAGATCCAGGTGCAGCACGTGCAAGCAGCCCAGCAGATCCAGGCTGCAGAAATCCCGGAGGAGCACAT
CCCACATCAGCAAATCCAGGCTCAGCTGGTGGCTGGCCAGTCTCTTGCTGGTGGTCAGCAGATCCAAATCCAGACCGTGGGTGCCCTTTCCCCACCACCATCCCAGCAGGGCTCACCCCGGGAAGGGG
AGCGGCGGGTTGGCACGGCCAGTGTCCTCCAACCAGTGAAGAAGCGCAAAGTGGACATGCCCATCACTGTGTCCTACGCCATCTCAGGGCAGCCGGTGGCCACCGTGCTGGCCATTCCACAGGGCCAG
CAGCAGAGTTATGTGTCTTTGAGGCCAGACTTACTGACAGTAGACAGTGCCCACCTGTACAGTGCCACTGGGACCATTACTAGCCCTACAGGAGAAACCTGGACCATCCCTGTTTATTCTGCCCAGCC
CCGGGGGGACCCTCAGCAGCAGAGCATTACCCACATTGCCATTCCCCAGGAAGCCTACAACGCAGTTCACGTCAGTGGCTCACCCACAGCCCTGGCAGCTGTTAAGCTGGAGGATGACAAGGAGAAGA
TGGTGGGCACCACATCTGTAGTGAAAAACTCCCATGAAGAGGTAGTGCAGACCCTTGCAAACTCTCTCTTTCCAGCACAGTTCATGAATGGCAACATCCACATTCCAGTGGCTGTGCAGGCTGTGGCA
GGCACGTACCAGAATACGGCTCAAACTGTCCATATATGGGACCCCCAACAGCAGCCGCAGCAGCAAACTCCCCAGGAACAGACACCACCACCACAGCAGCAGCAGCAGCAACTCCAAGTTACTTGTTC
AGCTCAAACTGTCCAGGTTGCTGAAGTTGAACCACAGTCACAGCCACAGCCTTCCCCAGAACTTCTGCTTCCAAATTCTTTGAAGCCAGAAGAAGGGCTTGAAGTATGGAAAAACTGGGCCCAGACCA
AGAATGCTGAACTAGAGAAGGATGCTCAGAACAGATTGGCACCCATTGGGAGGCGCCAACTGCTGCGATTCCAGGAAGATCTCATCTCCTCTGCTGTGGCAGAGTTGAATTATGGGCTCTGTCTAATG
ACACGGGAAGCTCGAAATGGAGAAGGTGAACCCTATGACCCAGATGTGCTCTACTATATTTTCCTGTGTATTCAAAAGTATCTTTTTGAAAATGGAAGGGTAGATGACATTTTCTCCGATCTTTATTA
TGTTCGGTTCACGGAGTGGCTACATGAAGTTCTGAAGGATGTTCAGCCCCGGGTCACTCCACTTGGCTATGTCTTGCCCAGCCACGTGACTGAGGAGATGCTATGGGAGTGCAAGCAGCTTGGGGCTC
ACTCCCCCTCCACCTTGCTGACCACCCTCATGTTCTTTAATACCAAGTACTTCCTATTGAAGACAGTGGACCAGCACATGAAGCTGGCCTTCTCCAAGGTCTTGCGACAGACAAAGAAGAACCCCTCT
AATCCCAAGGATAAAAGCACGAGTATCCGGTACTTGAAGGCCCTTGGAATACACCAGACTGGCCAGAAAGTTACAGATGACATGTATGCAGAACAGACGGAAAATCCAGAGAATCCATTGAGATGTCC
CATCAAGCTCTATGATTTCTACCTCTTCAAATGCCCCCAGAGTGTGAAAGGCCGGAATGACACCTTTTACCTGACACCTGAGCCAGTGGTGGCCCCCAACAGCCCAATCTGGTACTCAGTCCAGCCTA
TCAGCAGAGAGCAGATGGGACAAATGCTGACGCGGATCCTGGTGATAAGAGAAATTCAGGAGGCCATCGCAGTGGCCAATGCAAGCACTATGCACTGAGATGCCTTGGCCATGGCACAAGAGAAACCA
GCCAGGAAAAACCAGACAGACTTTCACACTAAAGAAGAGGCCTCCATTTTTTTTTTTCTTTTTTTTATTGGTGTAGTTACGAAGCCTTTCAGGCTGCTTCTGTTTAAAATATAAAAGAAAACTTTGCC
CCCTTTGCATCTTCATAAACCTGCTGCGGCAGACTCCTCAGCCGATGGTGGCTCTGGGTTTCCTTGAGTGTCATATGTCCTAGAAAGTTGCTGGCTGACTCTTTTTTGTCTGGGGCCTGGGGAAAGGG
CTTGGACTGTGAAAAGAAATGTGGCCCCTTTCCATCTTCAAGAGAGATGGAATTAATGATGGATGGACCCTGGAGGGAATCTCCCCAGCCGACTTCCACTGGGCTGACAGACTTTGCTGACCACAGGG
GAACGATGTTCTTTTCTTTCTTCATGATCAGACATAAACTTAGCATCTTAATGGAAGAAAAATGAGGGGAACTTCAATTATGATTTATTAAAGACAATTTCTATTACACCCTCCTTTATGACAAGTGA
CATTTTAGATGTAAAAGTAAAAACTTTACCATGCCTTTTTTTTTTTTGTTGGCCTAACATTGAGGCCTTAAAACCTGAGGCTCCTGTGCCTGATGGAATTCTTGTAACATACACTTGTGTATCATATA
AAGATACCACTCTGTTTCTCTTATGTATTCTTACTCTAGTTGTTTATTAAGAATGACAAGCACGTCTTTTCAACA

hide sequence

RefSeq Acc Id:

XM_047448399 ⟹ XP_047304355

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	49,029,707 - 49,093,610 (-)	NCBI

RefSeq Acc Id:

XM_054347004 ⟹ XP_054202979

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	3	49,057,747 - 49,122,341 (-)	NCBI

RefSeq Acc Id:

XM_054347005 ⟹ XP_054202980

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	3	49,057,747 - 49,121,672 (-)	NCBI


Protein RefSeqs	NP_001307509	(Get FASTA)	NCBI Sequence Viewer
	NP_001307510	(Get FASTA)	NCBI Sequence Viewer
	NP_001307511	(Get FASTA)	NCBI Sequence Viewer
	NP_001307512	(Get FASTA)	NCBI Sequence Viewer
	NP_001307513	(Get FASTA)	NCBI Sequence Viewer
	NP_001307514	(Get FASTA)	NCBI Sequence Viewer
	NP_060200	(Get FASTA)	NCBI Sequence Viewer
	NP_942581	(Get FASTA)	NCBI Sequence Viewer
	XP_011532165	(Get FASTA)	NCBI Sequence Viewer
	XP_047304355	(Get FASTA)	NCBI Sequence Viewer
	XP_054202979	(Get FASTA)	NCBI Sequence Viewer
	XP_054202980	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH00978	(Get FASTA)	NCBI Sequence Viewer
	AAH98375	(Get FASTA)	NCBI Sequence Viewer
	AAI10856	(Get FASTA)	NCBI Sequence Viewer
	AAI30341	(Get FASTA)	NCBI Sequence Viewer
	AAI30343	(Get FASTA)	NCBI Sequence Viewer
	BAA91042	(Get FASTA)	NCBI Sequence Viewer
	BAB14076	(Get FASTA)	NCBI Sequence Viewer
	BAB85047	(Get FASTA)	NCBI Sequence Viewer
	BAF85225	(Get FASTA)	NCBI Sequence Viewer
	CCQ43565	(Get FASTA)	NCBI Sequence Viewer
	EAW64948	(Get FASTA)	NCBI Sequence Viewer
	EAW64949	(Get FASTA)	NCBI Sequence Viewer
	EAW64950	(Get FASTA)	NCBI Sequence Viewer
	EAW64951	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000350094
	ENSP00000350094.2
	ENSP00000378830
	ENSP00000378830.2
	ENSP00000412870
	ENSP00000412870.2
	ENSP00000412890
	ENSP00000412890.1
	ENSP00000515516
	ENSP00000515516.1
	ENSP00000515573
	ENSP00000515573.1
GenBank Protein	Q2TAL8	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_060200 ⟸ NM_017730

- UniProtKB:

Q7L621 (UniProtKB/Swiss-Prot), Q4G0F7 (UniProtKB/Swiss-Prot), Q8TEA5 (UniProtKB/Swiss-Prot), Q2TAL8 (UniProtKB/Swiss-Prot), A1L3Z9 (UniProtKB/TrEMBL), A1L3Z7 (UniProtKB/TrEMBL), A0A024R2T7 (UniProtKB/TrEMBL), A0A994J6Q4 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MNNSLENTISFEEYIRVKARSVPQHRMKEFLDSLASKGPEALQEFQQTATTTMVYQQGGNCIYTDSTEVAGSLLELACPVTTSVQPQTQQEQQIQVQQPQQVQVQVQVQQSPQQVSAQLSPQLTVHQP
TEQPIQVQVQIQGQAPQSAAPSIQTPSLQSPSPSQLQAAQIQVQHVQAAQQIQAAEIPEEHIPHQQIQAQLVAGQSLAGGQQIQIQTVGALSPPPSQQGSPREGERRVGTASVLQPVKKRKVDMPITV
SYAISGQPVATVLAIPQGQQQSYVSLRPDLLTVDSAHLYSATGTITSPTGETWTIPVYSAQPRGDPQQQSITHIAIPQEAYNAVHVSGSPTALAAVKLEDDKEKMVGTTSVVKNSHEEVVQTLANSLF
PAQFMNGNIHIPVAVQAVAGTYQNTAQTVHIWDPQQQPQQQTPQEQTPPPQQQQQQLQVTCSAQTVQVAEVEPQSQPQPSPELLLPNSLKPEEGLEVWKNWAQTKNAELEKDAQNRLAPIGRRQLLRF
QEDLISSAVAELNYGLCLMTREARNGEGEPYDPDVLYYIFLCIQKYLFENGRVDDIFSDLYYVRFTEWLHEVLKDVQPRVTPLGYVLPSHVTEEMLWECKQLGAHSPSTLLTTLMFFNTKYFLLKTVD
QHMKLAFSKVLRQTKKNPSNPKDKSTSIRYLKALGIHQTGQKVTDDMYAEQTENPENPLRCPIKLYDFYLFKCPQSVKGRNDTFYLTPEPVVAPNSPIWYSVQPISREQMGQMLTRILVIREIQEAIA
VANASTMH

hide sequence

RefSeq Acc Id:

NP_942581 ⟸ NM_198880

- UniProtKB:

- Sequence:

show sequence

MNNSLENTISFEEYIRVKARSVPQHRMKEFLDSLASKGPEALQEFQQTATTTMVYQQGGNCIYT
DSTEVAGSLLELACPVTTSVQPQTQQEQQIQVQQPQQVQVQVQVQQSPQQVSAQLSPQLTVHQPTEQPIQVQVQIQGQAPQSAAPSIQTPSLQSPSPSQLQAAQIQVQHVQAAQQIQAAEIPEEHIPH
QQIQAQLVAGQSLAGGQQIQIQTVGALSPPPSQQGSPREGERRVGTASVLQPVKKRKVDMPITVSYAISGQPVATVLAIPQGQQQSYVSLRPDLLTVDSAHLYSATGTITSPTGETWTIPVYSAQPRG
DPQQQSITHIAIPQEAYNAVHVSGSPTALAAVKLEDDKEKMVGTTSVVKNSHEEVVQTLANSLFPAQFMNGNIHIPVAVQAVAGTYQNTAQTVHIWDPQQQPQQQTPQEQTPPPQQQQQQLQVTCSAQ
TVQVAEVEPQSQPQPSPELLLPNSLKPEEGLEVWKNWAQTKNAELEKDAQNRLAPIGRRQLLRFQEDLISSAVAELNYGLCLMTREARNGEGEPYDPDVLYYIFLCIQKYLFENGRVDDIFSDLYYVR
FTEWLHEVLKDVQPRVTPLGYVLPSHVTEEMLWECKQLGAHSPSTLLTTLMFFNTKYFLLKTVDQHMKLAFSKVLRQTKKNPSNPKDKSTSIRYLKALGIHQTGQKVTDDMYAEQTENPENPLRCPIK
LYDFYLFKCPQSVKGRNDTFYLTPEPVVAPNSPIWYSVQPISREQMGQMLTRILVIREIQEAIAVANASTMH

hide sequence

RefSeq Acc Id:	XP_011532165 ⟸ XM_011533863
- Peptide Label:	isoform X1
- UniProtKB:	Q7L621 (UniProtKB/Swiss-Prot), Q4G0F7 (UniProtKB/Swiss-Prot), Q8TEA5 (UniProtKB/Swiss-Prot), Q2TAL8 (UniProtKB/Swiss-Prot), A1L3Z9 (UniProtKB/TrEMBL), A1L3Z7 (UniProtKB/TrEMBL), A0A024R2T7 (UniProtKB/TrEMBL), A0A994J6Q4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MNNSLENTISFEEYIRVKARSVPQHRMKEFLDSLASKGPEALQEFQQTATTTMVYQQGGNCIYTDSTEVAGSLLELACPVTTSVQPQTQQEQQIQVQQPQQVQVQVQVQQSPQQVSAQLSPQLTVHQP TEQPIQVQVQIQGQAPQSAAPSIQTPSLQSPSPSQLQAAQIQVQHVQAAQQIQAAEIPEEHIPHQQIQAQLVAGQSLAGGQQIQIQTVGALSPPPSQQGSPREGERRVGTASVLQPVKKRKVDMPITV SYAISGQPVATVLAIPQGQQQSYVSLRPDLLTVDSAHLYSATGTITSPTGETWTIPVYSAQPRGDPQQQSITHIAIPQEAYNAVHVSGSPTALAAVKLEDDKEKMVGTTSVVKNSHEEVVQTLANSLF PAQFMNGNIHIPVAVQAVAGTYQNTAQTVHIWDPQQQPQQQTPQEQTPPPQQQQQQLQVTCSAQTVQVAEVEPQSQPQPSPELLLPNSLKPEEGLEVWKNWAQTKNAELEKDAQNRLAPIGRRQLLRF QEDLISSAVAELNYGLCLMTREARNGEGEPYDPDVLYYIFLCIQKYLFENGRVDDIFSDLYYVRFTEWLHEVLKDVQPRVTPLGYVLPSHVTEEMLWECKQLGAHSPSTLLTTLMFFNTKYFLLKTVD QHMKLAFSKVLRQTKKNPSNPKDKSTSIRYLKALGIHQTGQKVTDDMYAEQTENPENPLRCPIKLYDFYLFKCPQSVKGRNDTFYLTPEPVVAPNSPIWYSVQPISREQMGQMLTRILVIREIQEAIA VANASTMH hide sequence

RefSeq Acc Id:

NP_001307513 ⟸ NM_001320584

- UniProtKB:

- Sequence:

show sequence

MNNSLENTISFEEYIRVKARSVPQHRMKEFLDSLASKGPEALQEFQQTATTTMVYQQGGNCIYT
DSTEVAGSLLELACPVTTSVQPQTQQEQQIQVQQPQQVQVQVQVQQSPQQVSAQLSPQLTVHQPTEQPIQVQVQIQGQAPQSAAPSIQTPSLQSPSPSQLQAAQIQVQHVQAAQQIQAAEIPEEHIPH
QQIQAQLVAGQSLAGGQQIQIQTVGALSPPPSQQGSPREGERRVGTASVLQPVKKRKVDMPITVSYAISGQPVATVLAIPQGQQQSYVSLRPDLLTVDSAHLYSATGTITSPTGETWTIPVYSAQPRG
DPQQQSITHIAIPQEAYNAVHVSGSPTALAAVKLEDDKEKMVGTTSVVKNSHEEVVQTLANSLFPAQFMNGNIHIPVAVQAVAGTYQNTAQTVHIWDPQQQPQQQTPQEQTPPPQQQQQQLQVTCSAQ
TVQVAEVEPQSQPQPSPELLLPNSLKPEEGLEVWKNWAQTKNAELEKDAQNRLAPIGRRQLLRFQEDLISSAVAELNYGLCLMTREARNGEGEPYDPDVLYYIFLCIQKYLFENGRVDDIFSDLYYVR
FTEWLHEVLKDVQPRVTPLGYVLPSHVTEEMLWECKQLGAHSPSTLLTTLMFFNTKYFLLKTVDQHMKLAFSKVLRQTKKNPSNPKDKSTSIRYLKALGIHQTGQKVTDDMYAEQTENPENPLRCPIK
LYDFYLFKCPQSVKGRNDTFYLTPEPVVAPNSPIWYSVQPISREQMGQMLTRILVIREIQEAIAVANASTMH

hide sequence

RefSeq Acc Id:

NP_001307514 ⟸ NM_001320585

- UniProtKB:

- Sequence:

show sequence

MNNSLENTISFEEYIRVKARSVPQHRMKEFLDSLASKGPEALQEFQQTATTTMVYQQGGNCIYTDSTEVAGSLLELACPVTTSVQPQTQQEQQIQVQQPQQVQVQVQVQQSPQQVSAQLSPQLTVHQP
TEQPIQVQVQIQGQAPQSAAPSIQTPSLQSPSPSQLQAAQIQVQHVQAAQQIQAAEIPEEHIPHQQIQAQLVAGQSLAGGQQIQIQTVGALSPPPSQQGSPREGERRVGTASVLQPVKKRKVDMPITV
SYAISGQPVATVLAIPQGQQQSYVSLRPDLLTVDSAHLYSATGTITSPTGETWTIPVYSAQPRGDPQQQSITHIAIPQEAYNAVHVSGSPTALAAVKLEDDKEKMVGTTSVVKNSHEEVVQTLANSLF
PAQFMNGNIHIPVAVQAVAGTYQNTAQTVHIWDPQQQPQQQTPQEQTPPPQQQQQQLQVTCSAQTVQVAEVEPQSQPQPSPELLLPNSLKPEEGLEVWKNWAQTKNAELEKDAQNRLAPIGRRQLLRF
QEDLISSAVAELNYGLCLMTREARNGEGEPYDPDVLYYIFLCIQKYLFENGRVDDIFSDLYYVRFTEWLHEVLKDVQPRVTPLGYVLPSHVTEEMLWECKQLGAHSPSTLLTTLMFFNTKYFLLKTVD
QHMKLAFSKVLRQTKKNPSNPKDKSTSIRYLKALGIHQTGQKVTDDMYAEQTENPENPLRCPIKLYDFYLFKCPQSVKGRNDTFYLTPEPVVAPNSPIWYSVQPISREQMGQMLTRILVIREIQEAIA
VANASTMH

hide sequence

Protein Domains

CARD DUF3504

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q2TAL8-F1-model_v2	AlphaFold	Q2TAL8	1-776	view protein structure

RGD ID:

6801495

Promoter ID:

HG_KWN:44986

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

OTTHUMT00000345670, OTTHUMT00000345676, OTTHUMT00000345677

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	3	49,044,771 - 49,045,271 (-)	MPROMDB

RGD ID:

6801497

Promoter ID:

HG_KWN:44989

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, Lymphoblastoid

Transcripts:

OTTHUMT00000345678

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	3	49,069,789 - 49,070,289 (-)	MPROMDB

RGD ID:

6864374

Promoter ID:

EPDNEW_H5352

Type:

initiation region

Name:

QRICH1_1

Description:

glutamine rich 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H5353

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	49,094,071 - 49,094,131	EPDNEW

RGD ID:

6864376

Promoter ID:

EPDNEW_H5353

Type:

initiation region

Name:

QRICH1_2

Description:

glutamine rich 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H5352

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	49,094,363 - 49,094,423	EPDNEW

RGD ID:

6801496

Promoter ID:

HG_KWN:44992

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

NM_017730, OTTHUMT00000345669, OTTHUMT00000345674, OTTHUMT00000345679, OTTHUMT00000345680, OTTHUMT00000345681, OTTHUMT00000345682, UC010HKQ.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	3	49,105,516 - 49,107,047 (-)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	QRICH1	COSMIC
Ensembl Genes	ENSG00000198218	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000357496	ENTREZGENE
	ENST00000357496.6	UniProtKB/Swiss-Prot
	ENST00000395443	ENTREZGENE
	ENST00000395443.7	UniProtKB/Swiss-Prot
	ENST00000411682	ENTREZGENE
	ENST00000411682.2	UniProtKB/Swiss-Prot
	ENST00000424300	ENTREZGENE
	ENST00000424300.5	UniProtKB/Swiss-Prot
	ENST00000703871	ENTREZGENE
	ENST00000703871.1	UniProtKB/Swiss-Prot
	ENST00000703942	ENTREZGENE
	ENST00000703942.1	UniProtKB/Swiss-Prot
GTEx	ENSG00000198218	GTEx
HGNC ID	HGNC:24713	ENTREZGENE
Human Proteome Map	QRICH1	Human Proteome Map
InterPro	DUF3504	UniProtKB/Swiss-Prot
	ZnF_MYMT-QRICH1	UniProtKB/Swiss-Prot
KEGG Report	hsa:54870	UniProtKB/Swiss-Prot
NCBI Gene	54870	ENTREZGENE
OMIM	617387	OMIM
PANTHER	TRANSCRIPTIONAL REGULATOR QRICH1	UniProtKB/Swiss-Prot
	ZINC FINGER MYM-TYPE PROTEIN	UniProtKB/Swiss-Prot
Pfam	DUF3504	UniProtKB/Swiss-Prot
PharmGKB	PA142671106	PharmGKB
UniProt	A0A024R2T7	ENTREZGENE
	A0A994J424_HUMAN	UniProtKB/TrEMBL
	A0A994J457_HUMAN	UniProtKB/TrEMBL
	A0A994J492_HUMAN	UniProtKB/TrEMBL
	A0A994J4K3_HUMAN	UniProtKB/TrEMBL
	A0A994J4P1_HUMAN	UniProtKB/TrEMBL
	A0A994J6Q4	ENTREZGENE, UniProtKB/TrEMBL
	A0A994J751_HUMAN	UniProtKB/TrEMBL
	A1L3Z7	ENTREZGENE
	A1L3Z9	ENTREZGENE, UniProtKB/TrEMBL
	C9JAL2_HUMAN	UniProtKB/TrEMBL
	C9JIA8_HUMAN	UniProtKB/TrEMBL
	L8E8D2_HUMAN	UniProtKB/TrEMBL
	Q2TAL8	ENTREZGENE
	Q4G0F7	ENTREZGENE
	Q7L621	ENTREZGENE
	Q8TEA5	ENTREZGENE
	QRIC1_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	Q4G0F7	UniProtKB/Swiss-Prot
	Q7L621	UniProtKB/Swiss-Prot
	Q8TEA5	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-02	QRICH1	glutamine rich 1		glutamine-rich 1	Symbol and/or name change	5135510	APPROVED

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


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


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

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