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Gene: CAMSAP2 (calmodulin regulated spectrin associated protein family member 2) Homo sapiens

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Symbol:

CAMSAP2

Name:

calmodulin regulated spectrin associated protein family member 2

RGD ID:

1604039

HGNC Page

HGNC:29188

Description:

Enables microtubule minus-end binding activity. Involved in several processes, including axon development; regulation of dendrite development; and regulation of organelle organization. Located in Golgi apparatus; cytosol; and microtubule cytoskeleton.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

calmodulin regulated spectrin-associated protein 1-like 1; calmodulin regulated spectrin-associated protein family, member 2; calmodulin-regulated spectrin-associated protein 1-like protein 1; calmodulin-regulated spectrin-associated protein 2; CAMSAP1L1; KIAA1078; MGC150680; MGC150681; RP11-93N17.1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	200,738,893 - 200,860,704 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	200,738,893 - 200,860,707 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	200,708,021 - 200,829,832 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	198,975,309 - 199,096,455 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	173,831,311 - 173,953,903 (+)	NCBI		Celera
Cytogenetic Map	1	q32.1	NCBI
HuRef	1	171,875,247 - 171,996,963 (+)	NCBI		HuRef
CHM1_1	1	202,131,398 - 202,252,507 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	199,995,917 - 200,117,682 (+)	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)
CAMSAP2	Human	familial adult myoclonic epilepsy 5		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Epilepsy more ...	ClinVar	PMID:28492532
CAMSAP2	Human	gastrointestinal stromal tumor		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Gastrointestinal stromal tumor	ClinVar	PMID:28492532
CAMSAP2	Human	Hypokalemic Periodic Paralysis, Type 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hypokalemic periodic paralysis and type 1	ClinVar	PMID:28492532
CAMSAP2	Human	parathyroid carcinoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Parathyroid carcinoma	ClinVar	PMID:28492532
CAMSAP2	Human	primary ovarian insufficiency		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Premature ovarian insufficiency	ClinVar	PMID:25741868

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CAMSAP2	Human	1,2-dimethylhydrazine	decreases expression	ISO	Camsap2 (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in decreased expression of CAMSAP2 mRNA	CTD	PMID:22206623
CAMSAP2	Human	2,3',4,4',5-Pentachlorobiphenyl	increases expression	ISO	Camsap2 (Mus musculus)	6480464	2 more ...	CTD	PMID:31388691
CAMSAP2	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Camsap2 (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of CAMSAP2 mRNA	CTD	PMID:21570461
CAMSAP2	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Camsap2 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of CAMSAP2 mRNA	CTD	PMID:33387578
CAMSAP2	Human	2-hydroxypropanoic acid	decreases expression	EXP		6480464	Lactic Acid results in decreased expression of CAMSAP2 mRNA	CTD	PMID:30851411
CAMSAP2	Human	3,4-methylenedioxymethamphetamine	decreases expression	ISO	Camsap2 (Mus musculus)	6480464	N-Methyl-3 and 4-methylenedioxyamphetamine results in decreased expression of CAMSAP2 mRNA	CTD	PMID:26251327
CAMSAP2	Human	3-isobutyl-1-methyl-7H-xanthine	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of CAMSAP2 mRNA	CTD	PMID:28628672
CAMSAP2	Human	4,4'-sulfonyldiphenol	decreases methylation	ISO	Camsap2 (Mus musculus)	6480464	bisphenol S results in decreased methylation of CAMSAP2 promoter	CTD	PMID:33297965
CAMSAP2	Human	4-hydroxyphenyl retinamide	decreases expression	ISO	Camsap2 (Mus musculus)	6480464	Fenretinide results in decreased expression of CAMSAP2 mRNA	CTD	PMID:28973697
CAMSAP2	Human	6-propyl-2-thiouracil	decreases expression	ISO	Camsap2 (Rattus norvegicus)	6480464	Propylthiouracil results in decreased expression of CAMSAP2 mRNA	CTD	PMID:24780913
CAMSAP2	Human	aflatoxin B1	increases expression	ISO	Camsap2 (Mus musculus)	6480464	Aflatoxin B1 results in increased expression of CAMSAP2 mRNA	CTD	PMID:19770486
CAMSAP2	Human	aflatoxin B1	increases expression	ISO	Camsap2 (Rattus norvegicus)	6480464	Aflatoxin B1 results in increased expression of CAMSAP2 mRNA	CTD	PMID:33354967
CAMSAP2	Human	all-trans-retinoic acid	increases expression	ISO	Camsap2 (Rattus norvegicus)	6480464	Tretinoin results in increased expression of CAMSAP2 mRNA	CTD	PMID:20488242
CAMSAP2	Human	all-trans-retinoic acid	increases expression	EXP		6480464	Tretinoin results in increased expression of CAMSAP2 mRNA	CTD	PMID:23724009
CAMSAP2	Human	arsane	affects methylation	EXP		6480464	Arsenic affects the methylation of CAMSAP2 gene	CTD	PMID:25304211
CAMSAP2	Human	arsenic atom	affects methylation	EXP		6480464	Arsenic affects the methylation of CAMSAP2 gene	CTD	PMID:25304211
CAMSAP2	Human	arsenite(3-)	multiple interactions	EXP		6480464	arsenite inhibits the reaction [G3BP1 protein binds to CAMSAP2 mRNA]	CTD	PMID:32406909
CAMSAP2	Human	atrazine	decreases expression	EXP		6480464	Atrazine results in decreased expression of CAMSAP2 mRNA	CTD	PMID:22378314
CAMSAP2	Human	atrazine	affects methylation	ISO	Camsap2 (Rattus norvegicus)	6480464	Atrazine affects the methylation of CAMSAP2 gene	CTD	PMID:35440735
CAMSAP2	Human	benzo[a]pyrene diol epoxide I	decreases expression	EXP		6480464	7 more ...	CTD	PMID:19150397
CAMSAP2	Human	bisphenol A	decreases expression	EXP		6480464	bisphenol A results in decreased expression of CAMSAP2 mRNA	CTD	PMID:20678512
CAMSAP2	Human	bisphenol A	decreases expression	ISO	Camsap2 (Mus musculus)	6480464	bisphenol A results in decreased expression of CAMSAP2 mRNA	CTD	PMID:33221593
CAMSAP2	Human	bisphenol A	affects expression	ISO	Camsap2 (Rattus norvegicus)	6480464	bisphenol A affects the expression of CAMSAP2 mRNA	CTD	PMID:25181051
CAMSAP2	Human	bisphenol F	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of CAMSAP2 mRNA	CTD	PMID:28628672
CAMSAP2	Human	bisphenol F	increases expression	ISO	Camsap2 (Mus musculus)	6480464	bisphenol F results in increased expression of CAMSAP2 mRNA	CTD	PMID:38685157
CAMSAP2	Human	Brodifacoum	decreases expression	ISO	Camsap2 (Rattus norvegicus)	6480464	bromfenacoum results in decreased expression of CAMSAP2 protein	CTD	PMID:28903499
CAMSAP2	Human	caffeine	affects phosphorylation	EXP		6480464	Caffeine affects the phosphorylation of CAMSAP2 protein	CTD	PMID:35688186
CAMSAP2	Human	chloropicrin	increases expression	EXP		6480464	chloropicrin results in increased expression of CAMSAP2 mRNA	CTD	PMID:26352163
CAMSAP2	Human	chlorpyrifos	increases expression	ISO	Camsap2 (Mus musculus)	6480464	Chlorpyrifos results in increased expression of CAMSAP2 mRNA	CTD	PMID:37019170
CAMSAP2	Human	choline	multiple interactions	ISO	Camsap2 (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of CAMSAP2 gene	CTD	PMID:20938992
CAMSAP2	Human	cisplatin	multiple interactions	EXP		6480464	[Cisplatin co-treated with jinfukang] results in decreased expression of CAMSAP2 mRNA	CTD	PMID:27392435
CAMSAP2	Human	Cuprizon	decreases expression	ISO	Camsap2 (Rattus norvegicus)	6480464	Cuprizone results in decreased expression of CAMSAP2 mRNA	CTD	PMID:27523638
CAMSAP2	Human	cyclosporin A	increases expression	EXP		6480464	Cyclosporine results in increased expression of CAMSAP2 mRNA	CTD	PMID:20106945 and PMID:25562108
CAMSAP2	Human	dexamethasone	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of CAMSAP2 mRNA	CTD	PMID:28628672
CAMSAP2	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of CAMSAP2 mRNA	CTD	PMID:37042841
CAMSAP2	Human	diethylstilbestrol	decreases expression	EXP		6480464	Diethylstilbestrol results in decreased expression of CAMSAP2 mRNA	CTD	PMID:36621641
CAMSAP2	Human	ethanol	affects splicing	ISO	Camsap2 (Mus musculus)	6480464	Ethanol affects the splicing of CAMSAP2 mRNA	CTD	PMID:30319688
CAMSAP2	Human	folic acid	multiple interactions	ISO	Camsap2 (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of CAMSAP2 gene	CTD	PMID:20938992
CAMSAP2	Human	folic acid	decreases expression	ISO	Camsap2 (Mus musculus)	6480464	Folic Acid results in decreased expression of CAMSAP2 mRNA	CTD	PMID:25629700
CAMSAP2	Human	FR900359	increases phosphorylation	EXP		6480464	FR900359 results in increased phosphorylation of CAMSAP2 protein	CTD	PMID:37730182
CAMSAP2	Human	furan	decreases expression	ISO	Camsap2 (Rattus norvegicus)	6480464	furan results in decreased expression of CAMSAP2 mRNA	CTD	PMID:25539665
CAMSAP2	Human	gallic acid	increases expression	EXP		6480464	Gallic Acid results in increased expression of CAMSAP2 mRNA	CTD	PMID:34408198
CAMSAP2	Human	hexadecanoic acid	increases phosphorylation	EXP		6480464	Palmitic Acid results in increased phosphorylation of CAMSAP2 protein	CTD	PMID:28073184
CAMSAP2	Human	hydrogen peroxide	affects expression	EXP		6480464	Hydrogen Peroxide affects the expression of CAMSAP2 mRNA	CTD	PMID:21179406
CAMSAP2	Human	indometacin	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of CAMSAP2 mRNA	CTD	PMID:28628672
CAMSAP2	Human	inulin	multiple interactions	ISO	Camsap2 (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Inulin] results in decreased expression of CAMSAP2 mRNA	CTD	PMID:36331819
CAMSAP2	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of CAMSAP2 protein	CTD	PMID:32959892
CAMSAP2	Human	L-methionine	multiple interactions	ISO	Camsap2 (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of CAMSAP2 gene	CTD	PMID:20938992
CAMSAP2	Human	methoxychlor	affects methylation	ISO	Camsap2 (Rattus norvegicus)	6480464	Methoxychlor affects the methylation of CAMSAP2 gene	CTD	PMID:35440735
CAMSAP2	Human	oxaliplatin	multiple interactions	ISO	Camsap2 (Rattus norvegicus)	6480464	[oxaliplatin co-treated with Topotecan] results in decreased expression of CAMSAP2 mRNA	CTD	PMID:25729387
CAMSAP2	Human	oxaliplatin	decreases expression	ISO	Camsap2 (Rattus norvegicus)	6480464	oxaliplatin results in decreased expression of CAMSAP2 mRNA	CTD	PMID:25729387
CAMSAP2	Human	paracetamol	increases expression	ISO	Camsap2 (Rattus norvegicus)	6480464	Acetaminophen results in increased expression of CAMSAP2 mRNA	CTD	PMID:33387578
CAMSAP2	Human	perfluorohexanesulfonic acid	decreases expression	EXP		6480464	perfluorohexanesulfonic acid results in decreased expression of CAMSAP2 mRNA	CTD	PMID:25812627
CAMSAP2	Human	perfluorononanoic acid	decreases expression	EXP		6480464	perfluoro-n-nonanoic acid results in decreased expression of CAMSAP2 mRNA	CTD	PMID:25812627
CAMSAP2	Human	perfluorooctane-1-sulfonic acid	multiple interactions	ISO	Camsap2 (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Inulin] results in decreased expression of CAMSAP2 mRNA	CTD	PMID:36331819
CAMSAP2	Human	perfluorooctanoic acid	decreases expression	EXP		6480464	perfluorooctanoic acid results in decreased expression of CAMSAP2 mRNA	CTD	PMID:25812627
CAMSAP2	Human	pregnenolone 16alpha-carbonitrile	decreases expression	ISO	Camsap2 (Mus musculus)	6480464	Pregnenolone Carbonitrile results in decreased expression of CAMSAP2 mRNA	CTD	PMID:22698814
CAMSAP2	Human	rac-lactic acid	decreases expression	EXP		6480464	Lactic Acid results in decreased expression of CAMSAP2 mRNA	CTD	PMID:30851411
CAMSAP2	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of CAMSAP2 mRNA	CTD	PMID:38568856
CAMSAP2	Human	sodium arsenite	multiple interactions	EXP		6480464	sodium arsenite promotes the reaction [CAMSAP2 protein binds to CAPRIN1 protein]	CTD	PMID:33939924
CAMSAP2	Human	sunitinib	increases expression	EXP		6480464	Sunitinib results in increased expression of CAMSAP2 mRNA	CTD	PMID:31533062
CAMSAP2	Human	testosterone enanthate	affects expression	EXP		6480464	testosterone enanthate affects the expression of CAMSAP2 mRNA	CTD	PMID:17440010
CAMSAP2	Human	thioacetamide	increases expression	ISO	Camsap2 (Rattus norvegicus)	6480464	Thioacetamide results in increased expression of CAMSAP2 mRNA	CTD	PMID:23411599 and PMID:34492290
CAMSAP2	Human	thiram	increases expression	EXP		6480464	Thiram results in increased expression of CAMSAP2 mRNA	CTD	PMID:38568856
CAMSAP2	Human	titanium dioxide	affects expression	ISO	Camsap2 (Mus musculus)	6480464	titanium dioxide affects the expression of CAMSAP2 mRNA	CTD	PMID:17656681
CAMSAP2	Human	topotecan	decreases expression	ISO	Camsap2 (Rattus norvegicus)	6480464	Topotecan results in decreased expression of CAMSAP2 mRNA	CTD	PMID:25729387
CAMSAP2	Human	topotecan	multiple interactions	ISO	Camsap2 (Rattus norvegicus)	6480464	[oxaliplatin co-treated with Topotecan] results in decreased expression of CAMSAP2 mRNA	CTD	PMID:25729387
CAMSAP2	Human	topotecan	affects response to substance	EXP		6480464	CAMSAP2 protein affects the susceptibility to Topotecan	CTD	PMID:16217747
CAMSAP2	Human	Tributyltin oxide	increases phosphorylation	ISO	Camsap2 (Mus musculus)	6480464	bis(tri-n-butyltin)oxide results in increased phosphorylation of CAMSAP2 protein	CTD	PMID:22174045
CAMSAP2	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of CAMSAP2 mRNA	CTD	PMID:25979313
CAMSAP2	Human	vinclozolin	increases expression	ISO	Camsap2 (Rattus norvegicus)	6480464	vinclozolin results in increased expression of CAMSAP2 mRNA	CTD	PMID:23034163
CAMSAP2	Human	vinclozolin	increases methylation	ISO	Camsap2 (Rattus norvegicus)	6480464	vinclozolin results in increased methylation of CAMSAP2 gene	CTD	PMID:31079544
CAMSAP2	Human	vorinostat	decreases expression	EXP		6480464	vorinostat results in decreased expression of CAMSAP2 mRNA	CTD	PMID:27188386
CAMSAP2	Human	zinc atom	multiple interactions	EXP		6480464	[PCI 5002 co-treated with Zinc] results in increased expression of CAMSAP2 mRNA	CTD	PMID:18593933
CAMSAP2	Human	zinc(0)	multiple interactions	EXP		6480464	[PCI 5002 co-treated with Zinc] results in increased expression of CAMSAP2 mRNA	CTD	PMID:18593933

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)
CAMSAP2	Human	axon development	involved_in	IEA	UniProtKB:D4AEC2 and ensembl:ENSRNOP00000057155	150520179		Ensembl	GO_REF:0000107
CAMSAP2	Human	axon development	involved_in	IDA		150520179	PMID:24908486	UniProt	PMID:24908486
CAMSAP2	Human	cytoplasmic microtubule organization	involved_in	IBA	FB:FBgn0263197 more ...	150520179		GO_Central	GO_REF:0000033
CAMSAP2	Human	microtubule cytoskeleton organization	involved_in	IDA		150520179	PMID:24486153 more ...	UniProt	PMID:24486153 more ...
CAMSAP2	Human	microtubule cytoskeleton organization	involved_in	IMP		150520179	PMID:23169647	UniProt	PMID:23169647
CAMSAP2	Human	negative regulation of microtubule depolymerization	involved_in	IBA	FB:FBgn0263197 and PANTHER:PTN001091246	150520179		GO_Central	GO_REF:0000033
CAMSAP2	Human	neuron projection development	involved_in	IEA	InterPro:IPR031372	150520179		InterPro	GO_REF:0000002
CAMSAP2	Human	regulation of dendrite development	involved_in	IEA	UniProtKB:D4AEC2 and ensembl:ENSRNOP00000057155	150520179		Ensembl	GO_REF:0000107
CAMSAP2	Human	regulation of dendrite development	involved_in	IDA		150520179	PMID:24908486	UniProt	PMID:24908486
CAMSAP2	Human	regulation of Golgi organization	involved_in	IDA		150520179	PMID:27666745	UniProt	PMID:27666745
CAMSAP2	Human	regulation of microtubule polymerization	involved_in	IDA		150520179	PMID:24486153 and PMID:24706919	UniProt	PMID:24486153 and PMID:24706919
CAMSAP2	Human	regulation of organelle organization	involved_in	IMP		150520179	PMID:23169647	UniProt	PMID:23169647

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)
CAMSAP2	Human	cell projection	located_in	IEA	UniProtKB-KW:KW-0966	150520179		UniProt	GO_REF:0000043
CAMSAP2	Human	centrosome	located_in	IDA		150520179	PMID:23169647	UniProt	PMID:23169647
CAMSAP2	Human	ciliary basal body	located_in	ISS	UniProtKB:Q8C1B1	150520179		UniProt	GO_REF:0000024
CAMSAP2	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
CAMSAP2	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
CAMSAP2	Human	cytoskeleton	located_in	IEA	UniProtKB-SubCell:SL-0090	150520179		UniProt	GO_REF:0000044
CAMSAP2	Human	cytoskeleton	located_in	IEA	UniProtKB-KW:KW-0206	150520179		UniProt	GO_REF:0000043
CAMSAP2	Human	cytosol	located_in	IDA		150520179		HPA	GO_REF:0000052
CAMSAP2	Human	Golgi apparatus	located_in	IEA	UniProtKB-SubCell:SL-0132	150520179		UniProt	GO_REF:0000044
CAMSAP2	Human	Golgi apparatus	located_in	IDA		150520179	PMID:27666745	HPA	GO_REF:0000052 and PMID:27666745
CAMSAP2	Human	Golgi apparatus	located_in	IEA	UniProtKB-KW:KW-0333	150520179		UniProt	GO_REF:0000043
CAMSAP2	Human	microtubule	located_in	IEA	UniRule:UR000400396	150520179		UniProt	GO_REF:0000104
CAMSAP2	Human	microtubule	located_in	IEA	UniProtKB-KW:KW-0493	150520179		UniProt	GO_REF:0000043
CAMSAP2	Human	microtubule cytoskeleton	located_in	ISO	Camsap2 (Mus musculus)	9068941	PMID:23169647	MGI	PMID:23169647
CAMSAP2	Human	microtubule end	located_in	IDA		150520179		HPA	GO_REF:0000052
CAMSAP2	Human	microtubule minus-end	located_in	IDA		150520179	PMID:24486153 more ...	UniProt	PMID:24486153 more ...
CAMSAP2	Human	microtubule minus-end	located_in	IBA	MGI:1916947 more ...	150520179		GO_Central	GO_REF:0000033

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)
CAMSAP2	Human	calmodulin binding	enables	IEA	InterPro:IPR031372 and InterPro:IPR032940	150520179		InterPro	GO_REF:0000002
CAMSAP2	Human	microtubule binding	enables	IEA	InterPro:IPR014797 and InterPro:IPR032940	150520179		InterPro	GO_REF:0000002
CAMSAP2	Human	microtubule minus-end binding	enables	IDA		150520179	PMID:23169647 more ...	UniProt	PMID:23169647 more ...
CAMSAP2	Human	microtubule minus-end binding	enables	IBA	FB:FBgn0263197 more ...	150520179		GO_Central	GO_REF:0000033
CAMSAP2	Human	protein binding	enables	IPI	UniProtKB:P29692	150520179	PMID:20195357	IntAct	PMID:20195357
CAMSAP2	Human	protein binding	enables	IPI	UniProtKB:Q99996	150520179	PMID:27666745	UniProt	PMID:27666745
CAMSAP2	Human	protein binding	enables	IPI	UniProtKB:O75449 and UniProtKB:Q9BVA0	150520179	PMID:24486153	UniProt	PMID:24486153
CAMSAP2	Human	spectrin binding	enables	IEA	InterPro:IPR031372	150520179		InterPro	GO_REF:0000002

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CAMSAP2	Human	Gastrointestinal stroma tumor		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Gastrointestinal stromal tumor	ClinVar	PMID:28492532
CAMSAP2	Human	Parathyroid carcinoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Parathyroid carcinoma	ClinVar	PMID:28492532
CAMSAP2	Human	Premature ovarian insufficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Premature ovarian insufficiency	ClinVar	PMID:25741868
CAMSAP2	Human	Premature ovarian insufficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Premature ovarian insufficiency	ClinVar	PMID:25741868

#	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:10470851	PMID:12107410	PMID:12477932	PMID:14702039	PMID:15345747	PMID:15561718	PMID:15897902	PMID:16713569	PMID:19322201	PMID:19508979	PMID:20195357	PMID:21873635
PMID:22116939	PMID:23169647	PMID:24148305	PMID:24486153	PMID:24706919	PMID:24908486	PMID:25544563	PMID:25921289	PMID:26496610	PMID:26638075	PMID:26673895	PMID:26972000
PMID:27173435	PMID:27666745	PMID:27684187	PMID:28514442	PMID:28718761	PMID:28726242	PMID:29089450	PMID:29507755	PMID:29509190	PMID:29568061	PMID:29778605	PMID:30021884
PMID:30344098	PMID:31024071	PMID:31527615	PMID:32084403	PMID:32206120	PMID:32238831	PMID:32908313	PMID:33782614	PMID:33845483	PMID:33916271	PMID:33961781	PMID:34048709
PMID:34079125	PMID:34349018	PMID:35188072	PMID:35271311	PMID:35575683	PMID:35831314	PMID:36114006	PMID:36215168	PMID:36779422	PMID:36931259	PMID:37567766	PMID:37814859
PMID:38159595

CAMSAP2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	200,738,893 - 200,860,704 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	200,738,893 - 200,860,707 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	200,708,021 - 200,829,832 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	198,975,309 - 199,096,455 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	173,831,311 - 173,953,903 (+)	NCBI		Celera
Cytogenetic Map	1	q32.1	NCBI
HuRef	1	171,875,247 - 171,996,963 (+)	NCBI		HuRef
CHM1_1	1	202,131,398 - 202,252,507 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	199,995,917 - 200,117,682 (+)	NCBI		T2T-CHM13v2.0

Camsap2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	1	136,195,861 - 136,273,855 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	1	136,195,861 - 136,273,842 (-)	Ensembl		GRCm39 Ensembl
GRCm38	1	136,268,123 - 136,346,117 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	1	136,268,123 - 136,346,104 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	1	138,164,700 - 138,242,681 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	1	138,084,534 - 138,162,515 (-)	NCBI		MGSCv36	mm8
Celera	1	138,903,839 - 138,981,241 (-)	NCBI		Celera
Cytogenetic Map	1	E4	NCBI
cM Map	1	59.61	NCBI

Camsap2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	13	50,274,950 - 50,354,298 (-)	NCBI		GRCr8
mRatBN7.2	13	47,723,251 - 47,802,606 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	13	47,723,121 - 47,802,597 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	13	50,331,217 - 50,410,686 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	13	51,619,305 - 51,698,772 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	13	48,886,259 - 48,965,470 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	13	53,145,712 - 53,225,349 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	13	53,145,712 - 53,225,349 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	13	58,197,543 - 58,276,697 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	13	49,309,232 - 49,388,931 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	13	49,323,577 - 49,402,350 (-)	NCBI
Celera	13	48,034,991 - 48,114,872 (-)	NCBI		Celera
Cytogenetic Map	13	q13	NCBI

Camsap2
(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_004955406	36,957,523 - 37,055,748 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955406	36,958,337 - 37,055,748 (+)	NCBI	ChiLan1.0	ChiLan1.0

CAMSAP2
(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	1	48,519,600 - 48,641,284 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	48,483,195 - 48,605,274 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	176,339,766 - 176,460,808 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	180,644,200 - 180,764,136 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	180,644,200 - 180,764,136 (+)	Ensembl	panpan1.1		panPan2

CAMSAP2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	7	2,317,986 - 2,432,421 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	7	2,320,220 - 2,432,603 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	7	2,002,197 - 2,118,572 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	7	1,963,896 - 2,080,591 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	7	1,964,323 - 2,080,846 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	7	1,948,044 - 2,064,659 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	7	2,050,067 - 2,166,198 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	7	2,080,488 - 2,197,121 (-)	NCBI		UU_Cfam_GSD_1.0

Camsap2
(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_024409344	74,262,628 - 74,356,299 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936567	3,497,046 - 3,590,392 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936567	3,497,304 - 3,590,967 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CAMSAP2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	10	23,275,322 - 23,360,167 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	10	23,275,302 - 23,360,167 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	10	27,745,913 - 27,800,098 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CAMSAP2
(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	25	28,542,480 - 28,659,197 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	25	28,542,143 - 28,659,060 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666055	29,342,156 - 29,456,839 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Camsap2
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624807	9,766,139 - 9,879,513 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624807	9,766,238 - 9,879,930 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in CAMSAP2
89 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	copy number gain	See cases [RCV000051857]	Chr1:187143981..224299417 [GRCh38] Chr1:187113113..224487119 [GRCh37] Chr1:185379736..222553742 [NCBI36] Chr1:1q31.1-42.11	pathogenic
NM_203459.2(CAMSAP2):c.2225C>T (p.Thr742Ile)	single nucleotide variant	Malignant melanoma [RCV000064437]	Chr1:200848994 [GRCh38] Chr1:200818122 [GRCh37] Chr1:199084745 [NCBI36] Chr1:1q32.1	not provided
GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	copy number loss	See cases [RCV000133625]	Chr1:200144603..203112078 [GRCh38] Chr1:200113731..203081206 [GRCh37] Chr1:198380354..201347829 [NCBI36] Chr1:1q32.1	pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	copy number gain	See cases [RCV000240137]	Chr1:197811907..228997888 [GRCh37] Chr1:1q31.3-42.13	pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	copy number gain	See cases [RCV000449172]	Chr1:195483439..249213000 [GRCh37] Chr1:1q31.3-44	pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)x1	copy number loss	See cases [RCV000445748]	Chr1:179413479..201764737 [GRCh37] Chr1:1q25.2-32.1	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
NM_203459.4(CAMSAP2):c.3715A>G (p.Thr1239Ala)	single nucleotide variant	not specified [RCV004314925]	Chr1:200853387 [GRCh38] Chr1:200822515 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.4174C>T (p.Arg1392Trp)	single nucleotide variant	not specified [RCV004304430]	Chr1:200857796 [GRCh38] Chr1:200826924 [GRCh37] Chr1:1q32.1	uncertain significance
GRCh37/hg19 1q32.1(chr1:200799541-201011646)x3	copy number gain	not provided [RCV000684685]	Chr1:200799541..201011646 [GRCh37] Chr1:1q32.1	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3	copy number gain	not provided [RCV000749265]	Chr1:185644663..221698833 [GRCh37] Chr1:1q25.3-41	pathogenic
NM_203459.4(CAMSAP2):c.1868T>C (p.Met623Thr)	single nucleotide variant	Premature ovarian insufficiency [RCV000766157]	Chr1:200848637 [GRCh38] Chr1:200817765 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.2510T>G (p.Ile837Arg)	single nucleotide variant	Premature ovarian insufficiency [RCV000766158]\|not provided [RCV004691293]	Chr1:200849279 [GRCh38] Chr1:200818407 [GRCh37] Chr1:1q32.1	uncertain significance
GRCh37/hg19 1q32.1(chr1:200575876-200784156)x4	copy number gain	not provided [RCV000846349]	Chr1:200575876..200784156 [GRCh37] Chr1:1q32.1	uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	copy number gain	not provided [RCV000845852]	Chr1:182388773..249111240 [GRCh37] Chr1:1q25.3-44	pathogenic
NM_203459.4(CAMSAP2):c.1790G>A (p.Gly597Asp)	single nucleotide variant	not specified [RCV004313483]	Chr1:200848559 [GRCh38] Chr1:200817687 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.3083C>G (p.Pro1028Arg)	single nucleotide variant	not provided [RCV000955260]	Chr1:200849852 [GRCh38] Chr1:200818980 [GRCh37] Chr1:1q32.1	benign
GRCh37/hg19 1q32.1(chr1:200795738-201013947)x3	copy number gain	not provided [RCV002472891]	Chr1:200795738..201013947 [GRCh37] Chr1:1q32.1	uncertain significance
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	copy number gain	not provided [RCV001249273]	Chr1:194356425..210988710 [GRCh37] Chr1:1q31.3-32.2	not provided
NC_000001.10:g.(?_130980840)_(248900000_?)dup	duplication	Gastrointestinal stromal tumor [RCV001300221]\|Parathyroid carcinoma [RCV001341077]	Chr1:130980840..248900000 [GRCh37] Chr1:1q12-44	uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	copy number loss	not specified [RCV002053780]	Chr1:179413479..201764737 [GRCh37] Chr1:1q25.2-32.1	pathogenic
NC_000001.10:g.(?_200522516)_(206945780_?)dup	duplication	Epilepsy, familial adult myoclonic, 5 [RCV003116306]	Chr1:200522516..206945780 [GRCh37] Chr1:1q32.1	uncertain significance
NC_000001.10:g.(?_200522516)_(208391267_?)dup	duplication	Hypokalemic periodic paralysis, type 1 [RCV003119239]\|not provided [RCV003119240]	Chr1:200522516..208391267 [GRCh37] Chr1:1q32.1-32.2	uncertain significance\|no classifications from unflagged records
NM_203459.4(CAMSAP2):c.4187G>A (p.Cys1396Tyr)	single nucleotide variant	not specified [RCV004289639]	Chr1:200857809 [GRCh38] Chr1:200826937 [GRCh37] Chr1:1q32.1	uncertain significance
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	copy number gain	See cases [RCV002287837]	Chr1:197867914..249224684 [GRCh37] Chr1:1q31.3-44	pathogenic
NM_203459.4(CAMSAP2):c.1961C>G (p.Thr654Ser)	single nucleotide variant	not specified [RCV004202514]	Chr1:200848730 [GRCh38] Chr1:200817858 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.3577A>G (p.Met1193Val)	single nucleotide variant	not specified [RCV004196647]	Chr1:200852652 [GRCh38] Chr1:200821780 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.3397T>C (p.Tyr1133His)	single nucleotide variant	not specified [RCV004157929]	Chr1:200850166 [GRCh38] Chr1:200819294 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.70C>T (p.His24Tyr)	single nucleotide variant	not specified [RCV004108280]	Chr1:200739897 [GRCh38] Chr1:200709025 [GRCh37] Chr1:1q32.1	uncertain significance
GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	copy number gain	not provided [RCV002475637]	Chr1:181453460..213107248 [GRCh37] Chr1:1q25.3-32.3	pathogenic
NM_203459.4(CAMSAP2):c.3290C>A (p.Pro1097His)	single nucleotide variant	not specified [RCV004100785]	Chr1:200850059 [GRCh38] Chr1:200819187 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.3619G>C (p.Glu1207Gln)	single nucleotide variant	not specified [RCV004095735]	Chr1:200853291 [GRCh38] Chr1:200822419 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.4105G>A (p.Glu1369Lys)	single nucleotide variant	not specified [RCV004147533]	Chr1:200857398 [GRCh38] Chr1:200826526 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.104A>G (p.Asn35Ser)	single nucleotide variant	not specified [RCV004202042]	Chr1:200739931 [GRCh38] Chr1:200709059 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.2243C>G (p.Ser748Cys)	single nucleotide variant	not provided [RCV004691507]\|not specified [RCV004082341]	Chr1:200849012 [GRCh38] Chr1:200818140 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.247C>T (p.Arg83Cys)	single nucleotide variant	not specified [RCV004181561]	Chr1:200760946 [GRCh38] Chr1:200730074 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.272G>A (p.Ser91Asn)	single nucleotide variant	not specified [RCV004222489]	Chr1:200760971 [GRCh38] Chr1:200730099 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.3379G>A (p.Asp1127Asn)	single nucleotide variant	not specified [RCV004096872]	Chr1:200850148 [GRCh38] Chr1:200819276 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.1067C>T (p.Ala356Val)	single nucleotide variant	not specified [RCV004096575]	Chr1:200844827 [GRCh38] Chr1:200813955 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.2180G>C (p.Trp727Ser)	single nucleotide variant	not specified [RCV004182675]	Chr1:200848949 [GRCh38] Chr1:200818077 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.2741A>G (p.Gln914Arg)	single nucleotide variant	not specified [RCV004230568]	Chr1:200849510 [GRCh38] Chr1:200818638 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.134G>A (p.Gly45Glu)	single nucleotide variant	not specified [RCV004155689]	Chr1:200739961 [GRCh38] Chr1:200709089 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.3914G>C (p.Gly1305Ala)	single nucleotide variant	not specified [RCV004224859]	Chr1:200856027 [GRCh38] Chr1:200825155 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.3805C>T (p.Pro1269Ser)	single nucleotide variant	not specified [RCV004142388]	Chr1:200853477 [GRCh38] Chr1:200822605 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.1120G>T (p.Ala374Ser)	single nucleotide variant	not specified [RCV004210250]	Chr1:200847220 [GRCh38] Chr1:200816348 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.2045C>G (p.Ser682Cys)	single nucleotide variant	not specified [RCV004144588]	Chr1:200848814 [GRCh38] Chr1:200817942 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.3122A>T (p.Lys1041Met)	single nucleotide variant	not specified [RCV004227349]	Chr1:200849891 [GRCh38] Chr1:200819019 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.803A>C (p.Glu268Ala)	single nucleotide variant	not specified [RCV004189846]	Chr1:200832721 [GRCh38] Chr1:200801849 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.769G>A (p.Asp257Asn)	single nucleotide variant	not specified [RCV004219452]	Chr1:200832323 [GRCh38] Chr1:200801451 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.1348C>T (p.Arg450Cys)	single nucleotide variant	not specified [RCV004086557]	Chr1:200848117 [GRCh38] Chr1:200817245 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.406C>T (p.His136Tyr)	single nucleotide variant	not specified [RCV004149900]	Chr1:200807382 [GRCh38] Chr1:200776510 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.1724T>C (p.Met575Thr)	single nucleotide variant	not specified [RCV004089791]	Chr1:200848493 [GRCh38] Chr1:200817621 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.635G>C (p.Gly212Ala)	single nucleotide variant	not specified [RCV004301333]	Chr1:200815634 [GRCh38] Chr1:200784762 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.61C>A (p.Pro21Thr)	single nucleotide variant	not specified [RCV004250914]	Chr1:200739888 [GRCh38] Chr1:200709016 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.3301G>A (p.Val1101Ile)	single nucleotide variant	not specified [RCV004251733]	Chr1:200850070 [GRCh38] Chr1:200819198 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.3682C>T (p.Arg1228Trp)	single nucleotide variant	not specified [RCV004262312]	Chr1:200853354 [GRCh38] Chr1:200822482 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.118G>A (p.Val40Met)	single nucleotide variant	not specified [RCV004268048]	Chr1:200739945 [GRCh38] Chr1:200709073 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.3554G>A (p.Arg1185Gln)	single nucleotide variant	not specified [RCV004283134]	Chr1:200852629 [GRCh38] Chr1:200821757 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.1342A>G (p.Ile448Val)	single nucleotide variant	not specified [RCV004263386]	Chr1:200848111 [GRCh38] Chr1:200817239 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.1861G>A (p.Glu621Lys)	single nucleotide variant	not specified [RCV004269918]	Chr1:200848630 [GRCh38] Chr1:200817758 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.109G>T (p.Ala37Ser)	single nucleotide variant	not specified [RCV004351224]	Chr1:200739936 [GRCh38] Chr1:200709064 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.3082C>T (p.Pro1028Ser)	single nucleotide variant	not specified [RCV004337002]	Chr1:200849851 [GRCh38] Chr1:200818979 [GRCh37] Chr1:1q32.1	uncertain significance
GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	copy number loss	not specified [RCV003986384]	Chr1:197216705..203683110 [GRCh37] Chr1:1q31.3-32.1	likely pathogenic
GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	copy number gain	not specified [RCV003986684]	Chr1:199373229..204335027 [GRCh37] Chr1:1q32.1	likely pathogenic
NM_203459.4(CAMSAP2):c.2984C>T (p.Pro995Leu)	single nucleotide variant	not specified [RCV004434712]	Chr1:200849753 [GRCh38] Chr1:200818881 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.3992C>T (p.Ala1331Val)	single nucleotide variant	not specified [RCV004434717]	Chr1:200856105 [GRCh38] Chr1:200825233 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.2639A>G (p.Tyr880Cys)	single nucleotide variant	not specified [RCV004434710]	Chr1:200849408 [GRCh38] Chr1:200818536 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.3806C>A (p.Pro1269Gln)	single nucleotide variant	not specified [RCV004434716]	Chr1:200853478 [GRCh38] Chr1:200822606 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.3697C>G (p.Leu1233Val)	single nucleotide variant	not specified [RCV004434715]	Chr1:200853369 [GRCh38] Chr1:200822497 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.436G>A (p.Ala146Thr)	single nucleotide variant	not specified [RCV004434719]	Chr1:200807412 [GRCh38] Chr1:200776540 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.2781G>T (p.Gln927His)	single nucleotide variant	not specified [RCV004434711]	Chr1:200849550 [GRCh38] Chr1:200818678 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.2167C>T (p.His723Tyr)	single nucleotide variant	not specified [RCV004434709]	Chr1:200848936 [GRCh38] Chr1:200818064 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.3383T>G (p.Val1128Gly)	single nucleotide variant	not specified [RCV004434713]	Chr1:200850152 [GRCh38] Chr1:200819280 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.343A>G (p.Thr115Ala)	single nucleotide variant	not specified [RCV004434714]	Chr1:200761042 [GRCh38] Chr1:200730170 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.4102A>C (p.Asn1368His)	single nucleotide variant	not specified [RCV004434718]	Chr1:200857395 [GRCh38] Chr1:200826523 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.2675A>G (p.His892Arg)	single nucleotide variant	not specified [RCV004600678]	Chr1:200849444 [GRCh38] Chr1:200818572 [GRCh37] Chr1:1q32.1	uncertain significance
NC_000001.10:g.(?_190829412)_(216061974_?)del	deletion	not provided [RCV004579260]	Chr1:190829412..216061974 [GRCh37] Chr1:1q31.2-41	pathogenic
NM_203459.4(CAMSAP2):c.3074A>C (p.Asp1025Ala)	single nucleotide variant	not specified [RCV004600676]	Chr1:200849843 [GRCh38] Chr1:200818971 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.1894T>G (p.Tyr632Asp)	single nucleotide variant	not specified [RCV004600679]	Chr1:200848663 [GRCh38] Chr1:200817791 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.1040T>A (p.Met347Lys)	single nucleotide variant	not specified [RCV004600677]	Chr1:200844800 [GRCh38] Chr1:200813928 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.479G>T (p.Cys160Phe)	single nucleotide variant	not specified [RCV004600680]	Chr1:200807455 [GRCh38] Chr1:200776583 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.3186C>G (p.Ile1062Met)	single nucleotide variant	not specified [RCV004607301]	Chr1:200849955 [GRCh38] Chr1:200819083 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.2284C>T (p.Arg762Cys)	single nucleotide variant	not specified [RCV004895547]	Chr1:200849053 [GRCh38] Chr1:200818181 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.1588C>A (p.Leu530Ile)	single nucleotide variant	not specified [RCV004895552]	Chr1:200848357 [GRCh38] Chr1:200817485 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.984G>A (p.Pro328=)	single nucleotide variant	not specified [RCV004892634]	Chr1:200842050 [GRCh38] Chr1:200811178 [GRCh37] Chr1:1q32.1	likely benign
NM_203459.4(CAMSAP2):c.3227C>G (p.Pro1076Arg)	single nucleotide variant	not specified [RCV004895538]	Chr1:200849996 [GRCh38] Chr1:200819124 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.1165C>T (p.Arg389Cys)	single nucleotide variant	not specified [RCV004895540]	Chr1:200847265 [GRCh38] Chr1:200816393 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.3025C>T (p.Pro1009Ser)	single nucleotide variant	not specified [RCV004895541]	Chr1:200849794 [GRCh38] Chr1:200818922 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.1589T>C (p.Leu530Pro)	single nucleotide variant	not specified [RCV004895542]	Chr1:200848358 [GRCh38] Chr1:200817486 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.638G>T (p.Gly213Val)	single nucleotide variant	not specified [RCV004895543]	Chr1:200815637 [GRCh38] Chr1:200784765 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.3845C>T (p.Ser1282Leu)	single nucleotide variant	not specified [RCV004895544]	Chr1:200854838 [GRCh38] Chr1:200823966 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.1936T>C (p.Phe646Leu)	single nucleotide variant	not specified [RCV004895548]	Chr1:200848705 [GRCh38] Chr1:200817833 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.3132G>C (p.Leu1044Phe)	single nucleotide variant	not specified [RCV004895549]	Chr1:200849901 [GRCh38] Chr1:200819029 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.421G>A (p.Asp141Asn)	single nucleotide variant	not specified [RCV004895550]	Chr1:200807397 [GRCh38] Chr1:200776525 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.2876C>T (p.Ser959Phe)	single nucleotide variant	not specified [RCV004895551]	Chr1:200849645 [GRCh38] Chr1:200818773 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.524A>G (p.Tyr175Cys)	single nucleotide variant	not specified [RCV004895553]	Chr1:200807500 [GRCh38] Chr1:200776628 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.650G>A (p.Arg217His)	single nucleotide variant	not specified [RCV004895554]	Chr1:200832204 [GRCh38] Chr1:200801332 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.3853A>G (p.Thr1285Ala)	single nucleotide variant	not specified [RCV004892633]	Chr1:200854846 [GRCh38] Chr1:200823974 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.1100T>A (p.Phe367Tyr)	single nucleotide variant	not specified [RCV004895539]	Chr1:200844860 [GRCh38] Chr1:200813988 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.3958G>A (p.Asp1320Asn)	single nucleotide variant	not specified [RCV004895555]	Chr1:200856071 [GRCh38] Chr1:200825199 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.4406C>A (p.Thr1469Lys)	single nucleotide variant	not specified [RCV004895556]	Chr1:200858028 [GRCh38] Chr1:200827156 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.4426A>G (p.Thr1476Ala)	single nucleotide variant	not specified [RCV004895546]	Chr1:200858048 [GRCh38] Chr1:200827176 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.3932G>A (p.Arg1311His)	single nucleotide variant	not specified [RCV004895535]	Chr1:200856045 [GRCh38] Chr1:200825173 [GRCh37] Chr1:1q32.1	uncertain significance
NM_203459.4(CAMSAP2):c.782T>C (p.Leu261Ser)	single nucleotide variant	not specified [RCV004895536]	Chr1:200832336 [GRCh38] Chr1:200801464 [GRCh37] Chr1:1q32.1	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	2135
Count of miRNA genes:	753
Interacting mature miRNAs:	860
Transcripts:	ENST00000236925, ENST00000358823, ENST00000413307, ENST00000447701, ENST00000475326, ENST00000532732
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
597225832	GWAS1321906_H	heel bone mineral density QTL GWAS1321906 (human)		2e-20	heel bone mineral density	bone mineral density (CMO:0001226)	1	200738940	200738941	Human
597348636	GWAS1444710_H	myocardial infarction QTL GWAS1444710 (human)		0.000007	myocardial infarction		1	200846799	200846800	Human
597111086	GWAS1207160_H	Thyroid preparation use measurement QTL GWAS1207160 (human)		4e-10	Thyroid preparation use measurement		1	200842637	200842638	Human
596968235	GWAS1087754_H	telomere length, COVID-19 QTL GWAS1087754 (human)		8e-09	telomere length, COVID-19		1	200754881	200754882	Human
597065240	GWAS1161314_H	type 1 diabetes mellitus QTL GWAS1161314 (human)		4e-08	type 1 diabetes mellitus		1	200845831	200845832	Human
597376644	GWAS1472718_H	epilepsy QTL GWAS1472718 (human)		1e-08	brain integrity trait (VT:0010579)		1	200857641	200857642	Human

RH92112

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	200,826,563 - 200,826,730	UniSTS	GRCh37
Build 36	1	199,093,186 - 199,093,353	RGD	NCBI36
Celera	1	173,950,634 - 173,950,801	RGD
Cytogenetic Map	1	q32.1	UniSTS
HuRef	1	171,993,693 - 171,993,860	UniSTS
GeneMap99-GB4 RH Map	1	665.63	UniSTS

RH101923

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	200,827,226 - 200,827,357	UniSTS	GRCh37
Build 36	1	199,093,849 - 199,093,980	RGD	NCBI36
Celera	1	173,951,297 - 173,951,428	RGD
Cytogenetic Map	1	q32.1	UniSTS
HuRef	1	171,994,356 - 171,994,487	UniSTS
GeneMap99-GB4 RH Map	1	665.11	UniSTS

SHGC-81869

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	200,712,043 - 200,712,331	UniSTS	GRCh37
Build 36	1	198,978,666 - 198,978,954	RGD	NCBI36
Celera	1	173,834,668 - 173,834,956	RGD
Cytogenetic Map	1	q32.1	UniSTS
HuRef	1	171,878,604 - 171,878,892	UniSTS
TNG Radiation Hybrid Map	1	98021.0	UniSTS

SHGC-76143

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	200,712,524 - 200,712,646	UniSTS	GRCh37
Build 36	1	198,979,147 - 198,979,269	RGD	NCBI36
Celera	1	173,835,149 - 173,835,271	RGD
Cytogenetic Map	1	q32.1	UniSTS
HuRef	1	171,879,082 - 171,879,204	UniSTS
TNG Radiation Hybrid Map	1	98021.0	UniSTS
GeneMap99-GB4 RH Map	1	667.02	UniSTS
NCBI RH Map	1	1662.0	UniSTS

SHGC-33046

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	200,752,439 - 200,752,588	UniSTS	GRCh37
Build 36	1	199,019,062 - 199,019,211	RGD	NCBI36
Celera	1	173,875,054 - 173,875,203	RGD
Cytogenetic Map	1	q32.1	UniSTS
HuRef	1	171,919,490 - 171,919,639	UniSTS
Stanford-G3 RH Map	1	7742.0	UniSTS
GeneMap99-GB4 RH Map	1	665.38	UniSTS
GeneMap99-GB4 RH Map	1	665.11	UniSTS
Whitehead-RH Map	1	823.5	UniSTS
NCBI RH Map	1	1673.9	UniSTS
GeneMap99-G3 RH Map	1	7698.0	UniSTS

SHGC-76122

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	200,829,729 - 200,829,828	UniSTS	GRCh37
Build 36	1	199,096,352 - 199,096,451	RGD	NCBI36
Celera	1	173,953,800 - 173,953,899	RGD
Cytogenetic Map	1	q32.1	UniSTS
HuRef	1	171,996,860 - 171,996,959	UniSTS
GeneMap99-GB4 RH Map	1	665.63	UniSTS
Whitehead-RH Map	1	823.3	UniSTS
NCBI RH Map	1	1670.6	UniSTS

SHGC-76118

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	200,819,041 - 200,819,281	UniSTS	GRCh37
Build 36	1	199,085,664 - 199,085,904	RGD	NCBI36
Celera	1	173,943,112 - 173,943,352	RGD
Cytogenetic Map	1	q32.1	UniSTS
HuRef	1	171,986,181 - 171,986,421	UniSTS
GeneMap99-GB4 RH Map	1	665.18	UniSTS

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2252	4973	1726	2351	6	624	1929	465	2269	7285	6451	53	3734	1	852	1744	1617	175	1


RefSeq Transcripts	NM_001297707	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001297708	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001389638	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_203459	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005245041	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017000799	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047416200	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047416203	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054335487	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054335488	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054335489	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA625716	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB029001	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF087998	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK026348	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK095640	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK126821	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL110158	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL450104	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC011385	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC029449	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC045721	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC056910	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC065508	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC125229	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC125230	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CA388618	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471067	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	H14341	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000236925 ⟹ ENSP00000236925

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	200,739,779 - 200,860,707 (+)	Ensembl

Ensembl Acc Id:

ENST00000358823 ⟹ ENSP00000351684

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	200,738,893 - 200,860,704 (+)	Ensembl

Ensembl Acc Id:

ENST00000413307 ⟹ ENSP00000416800

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	200,739,779 - 200,858,119 (+)	Ensembl

Ensembl Acc Id:

ENST00000447701 ⟹ ENSP00000395365

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	200,832,716 - 200,853,415 (+)	Ensembl

Ensembl Acc Id:

ENST00000475326 ⟹ ENSP00000434766

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	200,856,094 - 200,857,724 (+)	Ensembl

Ensembl Acc Id:

ENST00000532732

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	200,832,108 - 200,832,834 (+)	Ensembl

RefSeq Acc Id:

NM_001297707 ⟹ NP_001284636

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	200,738,893 - 200,860,704 (+)	NCBI
CHM1_1	1	202,131,398 - 202,252,510 (+)	NCBI
T2T-CHM13v2.0	1	199,995,917 - 200,117,682 (+)	NCBI

Sequence:

show sequence

AGTCTCCGCATCTGCTCCTTCATCCAGTGCCGCAGCCGGAAAACCGCAGCGGCGGCGGCGGCGGCTGAGGGGGAACGATCCAGCGAGCTGCAGAAAGGGGGGCAGGAAAAAATTACAAGGACATTACT
GATAAGACAGGAACTGAGAGCTTGGGATTCGCGGCCTCTCCCCGGCCACCACCTTCGCCGTCAGCAAGGGAGGAAGACCCGGGAGACGGCAGCGGCGACGGCGGCAGGGGAAGGAGGAGACGGCGACG
GGAGGGAGCACAGAGGAGGGGACGGGCCGGCGGCGGCCTGTGAGCCGCAGTGATTTTGACGTTTTCCGCTGCTGCGTCTCCGGCGGGCAGGGGCCGGGCTGCGCTGGGTGGGCCAGCTCGCCCCGCGC
TTCCCCCTCGTCCTGCTCGTCCCTCCGCCCACCCGGGGCCTGAGGGGTCTCCCCGCTCCGAGGGAAGGGGAGAGGGAGGCGAGGGCGTGCGGGCATCGCGATGGCGGGGACATTTTCCACAACGTGAT
TGTTGAAGGCTCCCCCCATCCCCCCTCCCTTAAAATTCCGGGCCCTTCCAGCCTCCACCCTCCCCCAAGCCCGTGTGACTAAACCGAGACAAAGGGGAGGCGGCCTCGCTCACACGCGGGCTCGCGGG
GCGGGTGGCTCGGAGGGGCGCGGGCACGGGGCGGACCTCGCGCGGACGGACGGACGGAGACGGCGCCGCCACATTCCTATGCCCGGGAGCGGCGGCGGCGGCGGCGGCGGCTCCCGCGGGAGGCGGCA
GGCGCGCGGCGCGGACAGCTGAGCTTCTCCTCCGTCGGCGCCCGGGCGGACATCGCCCGGGCCCCGATGGTTTGAGCTTGCTTCTCCCTCCCTCCCGACCCCCGTGGTGGCGAGGCCACGCCATGTGA
AGGTTAGGGCCGGGACATCCCGAGGAGCCGCGGTGAAAGATGGGGGATGCTGCAGACCCCAGGGAGATGAGAAAGACGTTCATTGTTCCAGCCATCAAGCCTTTTGACCACTATGATTTCTCCAGGGC
CAAAATCGCCTGCAATCTGGCCTGGCTGGTGGCCAAAGCCTTTGGGACAGAAAATGTGCCAGAGGAACTTCAAGAACCATTTTACACAGATCAGTATGACCAGGAACACATCAAACCACCTGTTGTTA
ATTTGCTTCTATCGGCTGAACTATACTGTCGTGCTGGGAGTCTCATTCTCAAGAGTGATGCTGCAAAACCCCTTTTGGGCCATGATGCTGTAATCCAGGCTTTAGCACAGAAAGGTCTTTATGTCACT
GACCAGGAAAAATTGGTAACTGAACGAGATCTCCACAAGAAACCCATACAGATGAGTGCACATTTGGCCATGATCGATACCCTCATGATGGCTTATACTGTAGAAATGGTCAGTATAGAAAAAGTAAT
TGCGTGTGCTCAGCAGTATTCAGCTTTTTTTCAAGCCACAGATCTGCCCTATGATATTGAGGACGCTGTCATGTACTGGATAAATAAGGTAAATGAACATTTGAAAGACATAATGGAACAAGAACAAA
AACTGAAAGAACATCACACAGTTGAAGCTCCAGGAGGTCAAAAGTCTCCTTCCAAATGGTTTTGGAAACTGGTTCCAGCTCGTTATCGGAAAGAGCAAACATTGCTTAAGCAACTGCCTTGCATTCCA
TTGGTAGAAAATTTGTTGAAGGATGGGACAGATGGCTGTGCATTAGCTGCCCTTATTCATTTTTACTGTCCTGATGTTGTCAGATTAGAGGATATTTGTTTGAAAGAAACTATGTCTTTGGCTGATAG
CCTGTATAATCTGCAGCTGATTCAAGAATTTTGCCAAGAATACTTGAACCAGTGTTGCCATTTCACTCTGGAAGATATGCTCTATGCTGCTTCATCCATAAAGAGTAATTATTTGGTGTTCATGGCGG
AACTGTTCTGGTGGTTTGAAGTGGTGAAGCCGTCTTTTGTACAGCCTCGTGTTGTTCGTCCACAAGGAGCTGAACCTGTAAAAGATATGCCTTCAATTCCTGTCTTGAATGCTGCCAAAAGAAATGTC
TTAGATAGTAGTTCTGACTTCCCTTCAAGTGGGGAAGGAGCTACATTTACACAGTCTCATCATCATTTGCCTTCTAGGTATTCACGTCCCCAGGCTCATTCTTCAGCCTCAGGAGGAATTAGAAGGTC
TTCATCTATGTCTTATGTTGATGGCTTCATAGGGACATGGCCCAAAGAGAAAAGATCATCAGTGCATGGCGTATCATTTGATATTTCTTTTGATAAAGAAGATAGTGTACAGAGATCCACTCCAAACC
GAGGAATCACTCGTTCTATTAGTAATGAAGGACTTACTCTGAACAACAGTCATGTATCTAAACACATTAGGAAAAATTTGTCCTTCAAGCCAATAAATGGAGAAGAGGAAGCAGAGAGCATTGAAGAA
GAACTTAATATAGATTCTCACAGTGACCTCAAATCTTGTGTGCCCCTTAACACAAATGAACTAAATTCTAATGAGAATATTCATTACAAGCTTCCAAATGGAGCTTTACAAAATAGAATACTTCTTGA
CGAGTTTGGCAATCAGATCGAGACACCAAGCATTGAAGAAGCATTACAAATAATTCATGATACTGAAAAATCTCCTCATACACCTCAGCCAGACCAAATTGCTAATGGCTTCTTTCTTCATAGTCAAG
AAATGAGTATCTTAAATTCAAATATCAAGTTAAATCAATCTAGTCCTGATAATGTAACTGATACGAAAGGTGCCTTGAGTCCCATAACTGACAATACTGAAGTAGACACTGGAATTCACGTTCCTTCA
GAAGATATTCCTGAAACTATGGACGAAGATTCTTCGTTGAGAGATTATACTGTAAGCTTGGACTCTGACATGGATGATGCATCTAAATTTCTTCAGGATTATGATATTCGAACTGGCAACACCAGGGA
AGCTTTGAGTCCTTGTCCAAGTACTGTAAGTACCAAGTCTCAGCCAGGCAGCAGTGCTTCTTCTAGTTCTGGAGTTAAAATGACCAGCTTTGCTGAACAAAAATTCAGGAAACTGAATCATACCGATG
GAAAAAGTAGTGGAAGCAGTTCTCAAAAAACTACACCAGAAGGCTCTGAACTTAATATTCCTCATGTGGTTGCTTGGGCACAAATTCCAGAAGAAACAGGGCTTCCACAGGGACGGGACACTACCCAG
CTGTTGGCCTCTGAAATGGTGCATCTTAGGATGAAACTAGAAGAAAAGAGGCGTGCTATAGAAGCCCAGAAAAAGAAAATGGAAGCTGCTTTTACCAAACAGAGACAGAAAATGGGAAGGACAGCATT
CCTTACTGTAGTGAAAAAGAAAGGGGATGGGATATCTCCTCTACGAGAGGAAGCGGCGGGTGCAGAAGATGAGAAAGTATATACTGATCGAGCAAAAGAAAAGGAATCACAAAAAACTGATGGACAAA
GGAGCAAGTCACTGGCAGATATAAAAGAGAGCATGGAGAATCCTCAAGCCAAATGGCTAAAGTCTCCAACTACACCTATTGATCCTGAGAAGCAGTGGAACCTGGCAAGCCCCTCAGAAGAAACTTTA
AATGAAGGAGAGATTTTAGAATATACCAAATCCATTGAAAAGTTAAATTCATCCCTGCATTTTCTACAACAAGAAATGCAACGCTTGTCACTTCAGCAGGAGATGTTAATGCAGATGAGAGAGCAACA
ATCTTGGGTGATTTCACCTCCACAACCCTCTCCACAGAAACAGATTCGAGATTTTAAGCCTTCTAAGCAGGCAGGCCTGTCATCAGCCATTGCACCATTCTCCTCAGACTCCCCTCGTCCTACTCACC
CATCTCCACAGTCTTCTAACAGGAAAAGTGCATCTTTTTCTGTTAAAAGTCAAAGGACTCCTAGGCCAAATGAGTTAAAAATAACACCTTTGAATCGAACCTTGACACCTCCTCGGTCTGTGGATAGC
CTTCCTCGGTTAAGGAGGTTTTCACCAAGTCAAGTTCCTATTCAAACTAGGTCATTTGTATGTTTTGGGGATGATGGAGAACCTCAGTTAAAGGAATCCAAACCTAAAGAGGAAGTTAAAAAGGAGGA
ATTGGAATCCAAAGGGACTTTGGAACAGCGTGGACATAATCCAGAAGAAAAGGAAATCAAACCTTTTGAGTCAACAGTCTCTGAAGTCCTATCACTGCCTGTCACAGAGACTGTATGTCTGACACCAA
ATGAGGACCAATTGAATCAACCCACAGAACCCCCTCCTAAACCCGTTTTCCCACCCACTGCTCCAAAAAATGTTAATCTGATTGAAGTTTCCCTCTCAGATTTGAAACCCCCTGAAAAGGCTGATGTA
CCTGTTGAAAAATATGATGGAGAAAGTGATAAAGAACAATTTGATGATGACCAGAAAGTATGCTGTGGATTCTTTTTTAAGGATGATCAAAAAGCAGAAAATGATATGGCAATGAAACGGGCAGCTTT
GTTGGAGAAAAGATTAAGAAGGGAAAAGGAAACTCAGCTCCGGAAACAACAGTTGGAAGCAGAAATGGAGCATAAGAAGGAGGAAACAAGGCGTAAAACTGAGGAAGAACGTCAGAAGAAAGAAGATG
AGAGAGCACGCAGAGAATTTATTAGGCAAGAATATATGAGGCGGAAACAACTGAAACTAATGGAAGATATGGATACAGTAATTAAACCCCGTCCTCAAGTAGTAAAACAAAAAAAACAGCGACCAAAA
TCTATTCACAGAGATCATATTGAATCCCCCAAAACACCAATAAAGGGTCCTCCAGTCTCTAGCCTTTCTTTGGCATCGCTGAACACGGGTGATAACGAGAGTGTACATTCAGGCAAGAGGACGCCAAG
ATCAGAGTCTGTAGAAGGCTTCTTATCTCCAAGTCGTTGTGGCAGTCGAAATGGAGAAAAAGACTGGGAGAATGCATCAACAACTTCTTCAGTGGCTTCTGGAACAGAATATACAGGACCAAAGCTCT
ACAAAGAACCCAGTGCAAAATCCAATAAGCACATAATACAAAATGCTTTAGCTCATTGCTGTTTGGCTGGAAAAGTAAATGAAGGTCAGAAGAAAAAAATACTGGAGGAAATGGAGAAATCAGATGCC
AACAACTTCTTAATCTTGTTCCGGGATTCAGGATGCCAGTTCAGATCTTTATACACTTATTGCCCAGAAACTGAAGAAATCAATAAACTGACTGGGATAGGCCCTAAATCTATCACTAAAAAAATGAT
TGAAGGACTTTACAAATATAATTCTGACAGGAAACAGTTTAGCCACATACCCGCTAAAACTTTATCTGCCAGTGTTGATGCAATTACCATTCATAGCCATTTATGGCAGACCAAAAGACCAGTAACAC
CCAAAAAACTTTTACCCACTAAGGCATAGAAGTTGGGAAATACTTGCTTCAGAACATTCATGGTAAATTTGCACTTCATCTTTCCTGCCTATAGAAAATCTTTCTAATTGCCAACAAGACTTTTATTA
ATTAAAACTGGACATTAAGCTCTGTTGTCATGAACAACTGGAATGTAAACCACAGTATTTTGGAGTGCAGAACATTCTCAATTAAGTGATAAGTCCAAATGATGAAGGAAATGTTTTAATTCACAAAT
GGAGATTTGTATGTGTTATCAGGTTCACCTGCTTGATATTAGATACATTAAAGCACTGAATTTTCATGGATATTAGTTGGATTTATCATTGAAATATGGTTAAGATTACAAATTATGTGTTTTATTTG
TTGCTTTTTTTTAACCTTTTAATGTATATTCTTGTCTTCAGATGGTTTGCTATTTTTCTCTCCTGGGGGTTTATTCTAAGATACCTTTGTATTTTATTTCATGTGGAGATCATGAAAGTAGGAAATAT
ACCTTTAGAAGTAACTCGCACCTTTCTTATGATGTTAAGAGAAACACTAGTGTTTAGTTTTACAGTAACCCTCATATTTTAATGGTGTTACAGCATTTGCAAAAATTATTCTGCTAAGTATTTACAAC
TCTATTTATTATTCACTCAAGTATTAACATTCTCTATTAAATAAGAGGAGGTGTTGTAAAGAGCTGCTAGTAGGTTCGCTTTAAACCACATGAGCTTAACCAAGAATATGTTATGAGAAGTTGCTGAT
TAAATCAGTGCTGTTTTTACACCACTTCTGGCCAACTCAGAATAATTTAGATTGTTCTTTTAACAAAAAAGGCTTTCTATCTCTTTTAAAGTAAGTCACTTTATAAGTTGGCAGAAGTGAATGACACT
TTGAGAGTAGTCTTTCAATCTGAAGATGTAAGACTTCCTGAAACAAGTTCTCAAGAAGTCTTTACATTATATTTATAACTCATATAAAAATTATATTTAGAATTTTTAAACATGTACAAAGGGCTACA
TTTTAATTTTAAAATAGCTTCACATTATTTTACTTATATTGGGTTTTTCTTCATTTTAATCCTTTTCAAGTGGAATGGCTTAGAATAAGTATACACTTGAAATCTCCTCTACATGATCTTTGTTCTTT
AACAGTGTATACCAGAGGGTTAGTTGGGGAAAAACTTCATTCTCAGGAAAAGACTTGAATGATTATGTGACCCTGTTATATTTCAGTGTTGTGACAAATGTGTAAACTAGCGGGGGAAGACAGTATTG
TATCATAAATGAGATGCGTAGTTTGTTTTCTTTCATGGGAAGTAGAGATAAAAATATATACATTTCTCTAATTGAGTTGTTTAGAGAAAGAACTAATGTCTCATATGATGTATTTACTTATTTTAAAA
AAAAGAATAGGAATGAGATGTCCCTGAGCTGTACTTTTCTATTATTATAAGGCCTTTAGGCATCAGTGCATCTGGGTTATCAACATTTTCTCAAATGCTGTCAATATTTTACTGTAATTTATGTTCTT
ATATTTATGTATATTTGTTAAAACTGTAAAAAAATTTCACAGATTTTTTTCCAATACCTGTGCAAGATACATGTGTAGCTCAAAACTATTTGTGATCTACTGTTTGCATGTAAGAGACCAGGATATGT
AACTCTTATATTTTAAGTGTATACATATTGTGTATATAACATATGGATATTAAAAATGGGGAATTGCACATTTTACCTTTTGGACAGTAATTTCTATCACAGTTAGAAGGAAATGATAGTCAAATACA
CGTTTAGATTAAAACTAGTTTAAAAAATTATAAATGAATCTAATCAAAATGTGAATAGTAGTCAAAAGGATAATTTAATAAGCATTTTACGTTACTAAATTTGTTCATTTCAATATTAACTAAATTTC
CCTCATCAAAGCAATCTTTGTGATATTACTTCGCTATTAAATAAAGAAAATTGGATGCAAGACAATGGAGAAACTTTAAAACTAAACAGGACCACCCTTTATTCTTAAATTTGTGTGTGTCCAACAGT
TGAATTGAATGTCTATAAGGTCTAAAGGTAGAATGTGAATATTGCCACAGAGTTCATTGCTCTCAGTATAAGATTTTACTTTATTAATGCAGAAGGAATATGGATATATTTCTTTAAGTCTGCAGATT
TTTTTATTATGGTGCAGCTTTTTTTTAATTATGTTTTTAAAATTATACAGTTGAAAAATATGCCATTTCATAAAGTCTGAGGATTTTCGTCAACCTTACTGAAACACACTGGTGCTTTCATCATCAGA
GGTCAAATTATTATGATAACTATTCCATTAAGTTTGCCAAACATTTGTCGTGGTTACCAGTGCAGCCTGTCAAATTCTGCTATTTGACACAGCTTTGGAAAGATTTAGTTCTTGGTTTTTCCGTTTTG
TATTAGAATGACTGTTACAGTTTTATTTGGCTGTTTAAAGCCAAATTCAGCTATTTAATTATGGTTTCATGGACACTGTTGAGCAATGTACAGTGTATGGTGTGCTTACCTGTCCACTCTAGAGCATT
GCTTACAGGTTTTTTGTTTTTTAAGATGCTGTGCTGTAAAATACTGTCATACTTGCTATTTCCTGGTACAGTGTAGTTTTTCCCCTTTCATTTGAATAAAAGCATGGCACCAAA

hide sequence

RefSeq Acc Id:

NM_001297708 ⟹ NP_001284637

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	200,738,893 - 200,860,704 (+)	NCBI
CHM1_1	1	202,131,398 - 202,252,510 (+)	NCBI
T2T-CHM13v2.0	1	199,995,917 - 200,117,682 (+)	NCBI

Sequence:

show sequence

AGTCTCCGCATCTGCTCCTTCATCCAGTGCCGCAGCCGGAAAACCGCAGCGGCGGCGGCGGCGGCTGAGGGGGAACGATCCAGCGAGCTGCAGAAAGGGGGGCAGGAAAAAATTACAAGGACATTACT
GATAAGACAGGAACTGAGAGCTTGGGATTCGCGGCCTCTCCCCGGCCACCACCTTCGCCGTCAGCAAGGGAGGAAGACCCGGGAGACGGCAGCGGCGACGGCGGCAGGGGAAGGAGGAGACGGCGACG
GGAGGGAGCACAGAGGAGGGGACGGGCCGGCGGCGGCCTGTGAGCCGCAGTGATTTTGACGTTTTCCGCTGCTGCGTCTCCGGCGGGCAGGGGCCGGGCTGCGCTGGGTGGGCCAGCTCGCCCCGCGC
TTCCCCCTCGTCCTGCTCGTCCCTCCGCCCACCCGGGGCCTGAGGGGTCTCCCCGCTCCGAGGGAAGGGGAGAGGGAGGCGAGGGCGTGCGGGCATCGCGATGGCGGGGACATTTTCCACAACGTGAT
TGTTGAAGGCTCCCCCCATCCCCCCTCCCTTAAAATTCCGGGCCCTTCCAGCCTCCACCCTCCCCCAAGCCCGTGTGACTAAACCGAGACAAAGGGGAGGCGGCCTCGCTCACACGCGGGCTCGCGGG
GCGGGTGGCTCGGAGGGGCGCGGGCACGGGGCGGACCTCGCGCGGACGGACGGACGGAGACGGCGCCGCCACATTCCTATGCCCGGGAGCGGCGGCGGCGGCGGCGGCGGCTCCCGCGGGAGGCGGCA
GGCGCGCGGCGCGGACAGCTGAGCTTCTCCTCCGTCGGCGCCCGGGCGGACATCGCCCGGGCCCCGATGGTTTGAGCTTGCTTCTCCCTCCCTCCCGACCCCCGTGGTGGCGAGGCCACGCCATGTGA
AGGTTAGGGCCGGGACATCCCGAGGAGCCGCGGTGAAAGATGGGGGATGCTGCAGACCCCAGGGAGATGAGAAAGACGTTCATTGTTCCAGCCATCAAGCCTTTTGACCACTATGATTTCTCCAGGGC
CAAAATCGCCTGCAATCTGGCCTGGCTGGTGGCCAAAGCCTTTGGGACAGAAAATGTGCCAGAGGAACTTCAAGAACCATTTTACACAGATCAGTATGACCAGGAACACATCAAACCACCTGTTGTTA
ATTTGCTTCTATCGGCTGAACTATACTGTCGTGCTGGGAGTCTCATTCTCAAGAGTGATGCTGCAAAACCCCTTTTGGGCCATGATGCTGTAATCCAGGCTTTAGCACAGAAAGGTCTTTATGTCACT
GACCAGGAAAAATTGGTAACTGAACGAGATCTCCACAAGAAACCCATACAGATGAGTGCACATTTGGCCATGATCGATACCCTCATGATGGCTTATACTGTAGAAATGGTCAGTATAGAAAAAGTAAT
TGCGTGTGCTCAGCAGTATTCAGCTTTTTTTCAAGCCACAGATCTGCCCTATGATATTGAGGACGCTGTCATGTACTGGATAAATAAGGTAAATGAACATTTGAAAGACATAATGGAACAAGAACAAA
AACTGAAAGAACATCACACAGTTGAAGCTCCAGGAGGTCAAAAGGCTCGTTATCGGAAAGAGCAAACATTGCTTAAGCAACTGCCTTGCATTCCATTGGTAGAAAATTTGTTGAAGGATGGGACAGAT
GGCTGTGCATTAGCTGCCCTTATTCATTTTTACTGTCCTGATGTTGTCAGATTAGAGGATATTTGTTTGAAAGAAACTATGTCTTTGGCTGATAGCCTGTATAATCTGCAGCTGATTCAAGAATTTTG
CCAAGAATACTTGAACCAGTGTTGCCATTTCACTCTGGAAGATATGCTCTATGCTGCTTCATCCATAAAGAGTAATTATTTGGTGTTCATGGCGGAACTGTTCTGGTGGTTTGAAGTGGTGAAGCCGT
CTTTTGTACAGCCTCGTGTTGTTCGTCCACAAGGAGCTGAACCTGTAAAAGATATGCCTTCAATTCCTGTCTTGAATGCTGCCAAAAGAAATGTCTTAGATAGTAGTTCTGACTTCCCTTCAAGGTAT
TCACGTCCCCAGGCTCATTCTTCAGCCTCAGGAGGAATTAGAAGGTCTTCATCTATGTCTTATGTTGATGGCTTCATAGGGACATGGCCCAAAGAGAAAAGATCATCAGTGCATGGCGTATCATTTGA
TATTTCTTTTGATAAAGAAGATAGTGTACAGAGATCCACTCCAAACCGAGGAATCACTCGTTCTATTAGTAATGAAGGACTTACTCTGAACAACAGTCATGTATCTAAACACATTAGGAAAAATTTGT
CCTTCAAGCCAATAAATGGAGAAGAGGAAGCAGAGAGCATTGAAGAAGAACTTAATATAGATTCTCACAGTGACCTCAAATCTTGTGTGCCCCTTAACACAAATGAACTAAATTCTAATGAGAATATT
CATTACAAGCTTCCAAATGGAGCTTTACAAAATAGAATACTTCTTGACGAGTTTGGCAATCAGATCGAGACACCAAGCATTGAAGAAGCATTACAAATAATTCATGATACTGAAAAATCTCCTCATAC
ACCTCAGCCAGACCAAATTGCTAATGGCTTCTTTCTTCATAGTCAAGAAATGAGTATCTTAAATTCAAATATCAAGTTAAATCAATCTAGTCCTGATAATGTAACTGATACGAAAGGTGCCTTGAGTC
CCATAACTGACAATACTGAAGTAGACACTGGAATTCACGTTCCTTCAGAAGATATTCCTGAAACTATGGACGAAGATTCTTCGTTGAGAGATTATACTGTAAGCTTGGACTCTGACATGGATGATGCA
TCTAAATTTCTTCAGGATTATGATATTCGAACTGGCAACACCAGGGAAGCTTTGAGTCCTTGTCCAAGTACTGTAAGTACCAAGTCTCAGCCAGGCAGCAGTGCTTCTTCTAGTTCTGGAGTTAAAAT
GACCAGCTTTGCTGAACAAAAATTCAGGAAACTGAATCATACCGATGGAAAAAGTAGTGGAAGCAGTTCTCAAAAAACTACACCAGAAGGCTCTGAACTTAATATTCCTCATGTGGTTGCTTGGGCAC
AAATTCCAGAAGAAACAGGGCTTCCACAGGGACGGGACACTACCCAGCTGTTGGCCTCTGAAATGGTGCATCTTAGGATGAAACTAGAAGAAAAGAGGCGTGCTATAGAAGCCCAGAAAAAGAAAATG
GAAGCTGCTTTTACCAAACAGAGACAGAAAATGGGAAGGACAGCATTCCTTACTGTAGTGAAAAAGAAAGGGGATGGGATATCTCCTCTACGAGAGGAAGCGGCGGGTGCAGAAGATGAGAAAGTATA
TACTGATCGAGCAAAAGAAAAGGAATCACAAAAAACTGATGGACAAAGGAGCAAGTCACTGGCAGATATAAAAGAGAGCATGGAGAATCCTCAAGCCAAATGGCTAAAGTCTCCAACTACACCTATTG
ATCCTGAGAAGCAGTGGAACCTGGCAAGCCCCTCAGAAGAAACTTTAAATGAAGGAGAGATTTTAGAATATACCAAATCCATTGAAAAGTTAAATTCATCCCTGCATTTTCTACAACAAGAAATGCAA
CGCTTGTCACTTCAGCAGGAGATGTTAATGCAGATGAGAGAGCAACAATCTTGGGTGATTTCACCTCCACAACCCTCTCCACAGAAACAGATTCGAGATTTTAAGCCTTCTAAGCAGGCAGGCCTGTC
ATCAGCCATTGCACCATTCTCCTCAGACTCCCCTCGTCCTACTCACCCATCTCCACAGTCTTCTAACAGGAAAAGTGCATCTTTTTCTGTTAAAAGTCAAAGGACTCCTAGGCCAAATGAGTTAAAAA
TAACACCTTTGAATCGAACCTTGACACCTCCTCGGTCTGTGGATAGCCTTCCTCGGTTAAGGAGGTTTTCACCAAGTCAAGTTCCTATTCAAACTAGGTCATTTGTATGTTTTGGGGATGATGGAGAA
CCTCAGTTAAAGGAATCCAAACCTAAAGAGGAAGTTAAAAAGGAGGAATTGGAATCCAAAGGGACTTTGGAACAGCGTGGACATAATCCAGAAGAAAAGGAAATCAAACCTTTTGAGTCAACAGTCTC
TGAAGTCCTATCACTGCCTGTCACAGAGACTGTATGTCTGACACCAAATGAGGACCAATTGAATCAACCCACAGAACCCCCTCCTAAACCCGTTTTCCCACCCACTGCTCCAAAAAATGTTAATCTGA
TTGAAGTTTCCCTCTCAGATTTGAAACCCCCTGAAAAGGCTGATGTACCTGTTGAAAAATATGATGGAGAAAGTGATAAAGAACAATTTGATGATGACCAGAAAGTATGCTGTGGATTCTTTTTTAAG
GATGATCAAAAAGCAGAAAATGATATGGCAATGAAACGGGCAGCTTTGTTGGAGAAAAGATTAAGAAGGGAAAAGGAAACTCAGCTCCGGAAACAACAGTTGGAAGCAGAAATGGAGCATAAGAAGGA
GGAAACAAGGCGTAAAACTGAGGAAGAACGTCAGAAGAAAGAAGATGAGAGAGCACGCAGAGAATTTATTAGGCAAGAATATATGAGGCGGAAACAACTGAAACTAATGGAAGATATGGATACAGTAA
TTAAACCCCGTCCTCAAGTAGTAAAACAAAAAAAACAGCGACCAAAATCTATTCACAGAGATCATATTGAATCCCCCAAAACACCAATAAAGGGTCCTCCAGTCTCTAGCCTTTCTTTGGCATCGCTG
AACACGGGTGATAACGAGAGTGTACATTCAGGCAAGAGGACGCCAAGATCAGAGTCTGTAGAAGGCTTCTTATCTCCAAGTCGTTGTGGCAGTCGAAATGGAGAAAAAGACTGGGAGAATGCATCAAC
AACTTCTTCAGTGGCTTCTGGAACAGAATATACAGGACCAAAGCTCTACAAAGAACCCAGTGCAAAATCCAATAAGCACATAATACAAAATGCTTTAGCTCATTGCTGTTTGGCTGGAAAAGTAAATG
AAGGTCAGAAGAAAAAAATACTGGAGGAAATGGAGAAATCAGATGCCAACAACTTCTTAATCTTGTTCCGGGATTCAGGATGCCAGTTCAGATCTTTATACACTTATTGCCCAGAAACTGAAGAAATC
AATAAACTGACTGGGATAGGCCCTAAATCTATCACTAAAAAAATGATTGAAGGACTTTACAAATATAATTCTGACAGGAAACAGTTTAGCCACATACCCGCTAAAACTTTATCTGCCAGTGTTGATGC
AATTACCATTCATAGCCATTTATGGCAGACCAAAAGACCAGTAACACCCAAAAAACTTTTACCCACTAAGGCATAGAAGTTGGGAAATACTTGCTTCAGAACATTCATGGTAAATTTGCACTTCATCT
TTCCTGCCTATAGAAAATCTTTCTAATTGCCAACAAGACTTTTATTAATTAAAACTGGACATTAAGCTCTGTTGTCATGAACAACTGGAATGTAAACCACAGTATTTTGGAGTGCAGAACATTCTCAA
TTAAGTGATAAGTCCAAATGATGAAGGAAATGTTTTAATTCACAAATGGAGATTTGTATGTGTTATCAGGTTCACCTGCTTGATATTAGATACATTAAAGCACTGAATTTTCATGGATATTAGTTGGA
TTTATCATTGAAATATGGTTAAGATTACAAATTATGTGTTTTATTTGTTGCTTTTTTTTAACCTTTTAATGTATATTCTTGTCTTCAGATGGTTTGCTATTTTTCTCTCCTGGGGGTTTATTCTAAGA
TACCTTTGTATTTTATTTCATGTGGAGATCATGAAAGTAGGAAATATACCTTTAGAAGTAACTCGCACCTTTCTTATGATGTTAAGAGAAACACTAGTGTTTAGTTTTACAGTAACCCTCATATTTTA
ATGGTGTTACAGCATTTGCAAAAATTATTCTGCTAAGTATTTACAACTCTATTTATTATTCACTCAAGTATTAACATTCTCTATTAAATAAGAGGAGGTGTTGTAAAGAGCTGCTAGTAGGTTCGCTT
TAAACCACATGAGCTTAACCAAGAATATGTTATGAGAAGTTGCTGATTAAATCAGTGCTGTTTTTACACCACTTCTGGCCAACTCAGAATAATTTAGATTGTTCTTTTAACAAAAAAGGCTTTCTATC
TCTTTTAAAGTAAGTCACTTTATAAGTTGGCAGAAGTGAATGACACTTTGAGAGTAGTCTTTCAATCTGAAGATGTAAGACTTCCTGAAACAAGTTCTCAAGAAGTCTTTACATTATATTTATAACTC
ATATAAAAATTATATTTAGAATTTTTAAACATGTACAAAGGGCTACATTTTAATTTTAAAATAGCTTCACATTATTTTACTTATATTGGGTTTTTCTTCATTTTAATCCTTTTCAAGTGGAATGGCTT
AGAATAAGTATACACTTGAAATCTCCTCTACATGATCTTTGTTCTTTAACAGTGTATACCAGAGGGTTAGTTGGGGAAAAACTTCATTCTCAGGAAAAGACTTGAATGATTATGTGACCCTGTTATAT
TTCAGTGTTGTGACAAATGTGTAAACTAGCGGGGGAAGACAGTATTGTATCATAAATGAGATGCGTAGTTTGTTTTCTTTCATGGGAAGTAGAGATAAAAATATATACATTTCTCTAATTGAGTTGTT
TAGAGAAAGAACTAATGTCTCATATGATGTATTTACTTATTTTAAAAAAAAGAATAGGAATGAGATGTCCCTGAGCTGTACTTTTCTATTATTATAAGGCCTTTAGGCATCAGTGCATCTGGGTTATC
AACATTTTCTCAAATGCTGTCAATATTTTACTGTAATTTATGTTCTTATATTTATGTATATTTGTTAAAACTGTAAAAAAATTTCACAGATTTTTTTCCAATACCTGTGCAAGATACATGTGTAGCTC
AAAACTATTTGTGATCTACTGTTTGCATGTAAGAGACCAGGATATGTAACTCTTATATTTTAAGTGTATACATATTGTGTATATAACATATGGATATTAAAAATGGGGAATTGCACATTTTACCTTTT
GGACAGTAATTTCTATCACAGTTAGAAGGAAATGATAGTCAAATACACGTTTAGATTAAAACTAGTTTAAAAAATTATAAATGAATCTAATCAAAATGTGAATAGTAGTCAAAAGGATAATTTAATAA
GCATTTTACGTTACTAAATTTGTTCATTTCAATATTAACTAAATTTCCCTCATCAAAGCAATCTTTGTGATATTACTTCGCTATTAAATAAAGAAAATTGGATGCAAGACAATGGAGAAACTTTAAAA
CTAAACAGGACCACCCTTTATTCTTAAATTTGTGTGTGTCCAACAGTTGAATTGAATGTCTATAAGGTCTAAAGGTAGAATGTGAATATTGCCACAGAGTTCATTGCTCTCAGTATAAGATTTTACTT
TATTAATGCAGAAGGAATATGGATATATTTCTTTAAGTCTGCAGATTTTTTTATTATGGTGCAGCTTTTTTTTAATTATGTTTTTAAAATTATACAGTTGAAAAATATGCCATTTCATAAAGTCTGAG
GATTTTCGTCAACCTTACTGAAACACACTGGTGCTTTCATCATCAGAGGTCAAATTATTATGATAACTATTCCATTAAGTTTGCCAAACATTTGTCGTGGTTACCAGTGCAGCCTGTCAAATTCTGCT
ATTTGACACAGCTTTGGAAAGATTTAGTTCTTGGTTTTTCCGTTTTGTATTAGAATGACTGTTACAGTTTTATTTGGCTGTTTAAAGCCAAATTCAGCTATTTAATTATGGTTTCATGGACACTGTTG
AGCAATGTACAGTGTATGGTGTGCTTACCTGTCCACTCTAGAGCATTGCTTACAGGTTTTTTGTTTTTTAAGATGCTGTGCTGTAAAATACTGTCATACTTGCTATTTCCTGGTACAGTGTAGTTTTT
CCCCTTTCATTTGAATAAAAGCATGGCACCAAA

hide sequence

RefSeq Acc Id:

NM_001389638 ⟹ NP_001376567

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	200,738,893 - 200,860,704 (+)	NCBI
T2T-CHM13v2.0	1	199,995,917 - 200,117,682 (+)	NCBI

Sequence:

show sequence

AGTCTCCGCATCTGCTCCTTCATCCAGTGCCGCAGCCGGAAAACCGCAGCGGCGGCGGCGGCGG
CTGAGGGGGAACGATCCAGCGAGCTGCAGAAAGGGGGGCAGGAAAAAATTACAAGGACATTACTGATAAGACAGGAACTGAGAGCTTGGGATTCGCGGCCTCTCCCCGGCCACCACCTTCGCCGTCAG
CAAGGGAGGAAGACCCGGGAGACGGCAGCGGCGACGGCGGCAGGGGAAGGAGGAGACGGCGACGGGAGGGAGCACAGAGGAGGGGACGGGCCGGCGGCGGCCTGTGAGCCGCAGTGATTTTGACGTTT
TCCGCTGCTGCGTCTCCGGCGGGCAGGGGCCGGGCTGCGCTGGGTGGGCCAGCTCGCCCCGCGCTTCCCCCTCGTCCTGCTCGTCCCTCCGCCCACCCGGGGCCTGAGGGGTCTCCCCGCTCCGAGGG
AAGGGGAGAGGGAGGCGAGGGCGTGCGGGCATCGCGATGGCGGGGACATTTTCCACAACGTGATTGTTGAAGGCTCCCCCCATCCCCCCTCCCTTAAAATTCCGGGCCCTTCCAGCCTCCACCCTCCC
CCAAGCCCGTGTGACTAAACCGAGACAAAGGGGAGGCGGCCTCGCTCACACGCGGGCTCGCGGGGCGGGTGGCTCGGAGGGGCGCGGGCACGGGGCGGACCTCGCGCGGACGGACGGACGGAGACGGC
GCCGCCACATTCCTATGCCCGGGAGCGGCGGCGGCGGCGGCGGCGGCTCCCGCGGGAGGCGGCAGGCGCGCGGCGCGGACAGCTGAGCTTCTCCTCCGTCGGCGCCCGGGCGGACATCGCCCGGGCCC
CGATGGTTTGAGCTTGCTTCTCCCTCCCTCCCGACCCCCGTGGTGGCGAGGCCACGCCATGTGAAGGTTAGGGCCGGGACATCCCGAGGAGCCGCGGTGAAAGATGGGGGATGCTGCAGACCCCAGGG
AGATGAGAAAGACGTTCATTGTTCCAGCCATCAAGCCTTTTGACCACTATGATTTCTCCAGGGCCAAAATCGCCTGCAATCTGGCCTGGCTGGTGGCCAAAGCCTTTGGGACAGAAAATGTGCCAGAG
GAACTTCAAGAACCATTTTACACAGATCAGTATGACCAGGAACACATCAAACCACCTGTTGTTAATTTGCTTCTATCGGCTGAACTATACTGTCGTGCTGGGAGTCTCATTCTCAAGAGTGATGCTGC
AAAACCCCTTTTGGGCCATGATGCTGTAATCCAGGCTTTAGCACAGAAAGGTCTTTATGTCACTGACCAGGAAAAATTGGTAACTGAACGAGATCTCCACAAGAAACCCATACAGATGAGTGCACATT
TGGCCATGATCGATACCCTCATGATGGCTTATACTGTAGAAATGGTCAGTATAGAAAAAGTAATTGCGTGTGCTCAGCAGTATTCAGCTTTTTTTCAAGCCACAGATCTGCCCTATGATATTGAGGAC
GCTGTCATGTACTGGATAAATAAGGTAAATGAACATTTGAAAGACATAATGGAACAAGAACAAAAACTGAAAGAACATCACACAGTTGAAGCTCCAGGAGGTCAAAAGTCTCCTTCCAAATGGTTTTG
GAAACTGGTTCCAGCTCGTTATCGGAAAGAGCAAACATTGCTTAAGCAACTGCCTTGCATTCCATTGGTAGAAAATTTGTTGAAGGATGGGACAGATGGCTGTGCATTAGCTGCCCTTATTCATTTTT
ACTGTCCTGATGTTGTCAGATTAGAGGATATTTGTTTGAAAGAAACTATGTCTTTGGCTGATAGCCTGTATAATCTGCAGCTGATTCAAGAATTTTGCCAAGAATACTTGAACCAGTGTTGCCATTTC
ACTCTGGAAGATATGCTCTATGCTGCTTCATCCATAAAGAGTAATTATTTGGTGTTCATGGCGGAACTGTTCTGGTGGTTTGAAGTGGTGAAGCCGTCTTTTGTACAGCCTCGTGTTGTTCGTCCACA
AGGAGCTGAACCTGTAAAAGATATGCCTTCAATTCCTGTCTTGAATGCTGCCAAAAGAAATGTCTTAGATAGTAGTTCTGACTTCCCTTCAAGGTATTCACGTCCCCAGGCTCATTCTTCAGCCTCAG
GAGGAATTAGAAGGTCTTCATCTATGTCTTATGTTGATGGCTTCATAGGGACATGGCCCAAAGAGAAAAGATCATCAGTGCATGGCGTATCATTTGATATTTCTTTTGATAAAGAAGATAGTGTACAG
AGATCCACTCCAAACCGAGGAATCACTCGTTCTATTAGTAATGAAGGACTTACTCTGAACAACAGTCATGTATCTAAACACATTAGGAAAAATTTGTCCTTCAAGCCAATAAATGGAGAAGAGGAAGC
AGAGAGCATTGAAGAAGAACTTAATATAGATTCTCACAGTGACCTCAAATCTTGTGTGCCCCTTAACACAAATGAACTAAATTCTAATGAGAATATTCATTACAAGCTTCCAAATGGAGCTTTACAAA
ATAGAATACTTCTTGACGAGTTTGGCAATCAGATCGAGACACCAAGCATTGAAGAAGCATTACAAATAATTCATGATACTGAAAAATCTCCTCATACACCTCAGCCAGACCAAATTGCTAATGGCTTC
TTTCTTCATAGTCAAGAAATGAGTATCTTAAATTCAAATATCAAGTTAAATCAATCTAGTCCTGATAATGTAACTGATACGAAAGGTGCCTTGAGTCCCATAACTGACAATACTGAAGTAGACACTGG
AATTCACGTTCCTTCAGAAGATATTCCTGAAACTATGGACGAAGATTCTTCGTTGAGAGATTATACTGTAAGCTTGGACTCTGACATGGATGATGCATCTAAATTTCTTCAGGATTATGATATTCGAA
CTGGCAACACCAGGGAAGCTTTGAGTCCTTGTCCAAGTACTGTAAGTACCAAGTCTCAGCCAGGCAGCAGTGCTTCTTCTAGTTCTGGAGTTAAAATGACCAGCTTTGCTGAACAAAAATTCAGGAAA
CTGAATCATACCGATGGAAAAAGTAGTGGAAGCAGTTCTCAAAAAACTACACCAGAAGGCTCTGAACTTAATATTCCTCATGTGGTTGCTTGGGCACAAATTCCAGAAGAAACAGGGCTTCCACAGGG
ACGGGACACTACCCAGCTGTTGGCCTCTGAAATGGTGCATCTTAGGATGAAACTAGAAGAAAAGAGGCGTGCTATAGAAGCCCAGAAAAAGAAAATGGAAGCTGCTTTTACCAAACAGAGACAGAAAA
TGGGAAGGACAGCATTCCTTACTGTAGTGAAAAAGAAAGGGGATGGGATATCTCCTCTACGAGAGGAAGCGGCGGGTGCAGAAGATGAGAAAGTATATACTGATCGAGCAAAAGAAAAGGAATCACAA
AAAACTGATGGACAAAGGAGCAAGTCACTGGCAGATATAAAAGAGAGCATGGAGAATCCTCAAGCCAAATGGCTAAAGTCTCCAACTACACCTATTGATCCTGAGAAGCAGTGGAACCTGGCAAGCCC
CTCAGAAGAAACTTTAAATGAAGGAGAGATTTTAGAATATACCAAATCCATTGAAAAGTTAAATTCATCCCTGCATTTTCTACAACAAGAAATGCAACGCTTGTCACTTCAGCAGGAGATGTTAATGC
AGATGAGAGAGCAACAATCTTGGGTGATTTCACCTCCACAACCCTCTCCACAGAAACAGATTCGAGATTTTAAGCCTTCTAAGCAGGCAGGCCTGTCATCAGCCATTGCACCATTCTCCTCAGACTCC
CCTCGTCCTACTCACCCATCTCCACAGTCTTCTAACAGGAAAAGTGCATCTTTTTCTGTTAAAAGTCAAAGGACTCCTAGGCCAAATGAGTTAAAAATAACACCTTTGAATCGAACCTTGACACCTCC
TCGGTCTGTGGATAGCCTTCCTCGGTTAAGGAGGTTTTCACCAAGTCAAGTTCCTATTCAAACTAGGTCATTTGTATGTTTTGGGGATGATGGAGAACCTCAGTTAAAGGAATCCAAACCTAAAGAGG
AAGTTAAAAAGGAGGAATTGGAATCCAAAGGGACTTTGGAACAGCGTGGACATAATCCAGAAGAAAAGGAAATCAAACCTTTTGAGTCAACAGTCTCTGAAGTCCTATCACTGCCTGTCACAGAGACT
GTATGTCTGACACCAAATGAGGACCAATTGAATCAACCCACAGAACCCCCTCCTAAACCCGTTTTCCCACCCACTGCTCCAAAAAATGTTAATCTGATTGAAGTTTCCCTCTCAGATTTGAAACCCCC
TGAAAAGGCTGATGTACCTGTTGAAAAATATGATGGAGAAAGTGATAAAGAACAATTTGATGATGACCAGAAAGTATGCTGTGGATTCTTTTTTAAGGATGATCAAAAAGCAGAAAATGATATGGCAA
TGAAACGGGCAGCTTTGTTGGAGAAAAGATTAAGAAGGGAAAAGGAAACTCAGCTCCGGAAACAACAGTTGGAAGCAGAAATGGAGCATAAGAAGGAGGAAACAAGGCGTAAAACTGAGGAAGAACGT
CAGAAGAAAGAAGATGAGAGAGCACGCAGAGAATTTATTAGGCAAGAATATATGAGGCGGAAACAACTGAAACTAATGGAAGATATGGATACAGTAATTAAACCCCGTCCTCAAGTAGTAAAACAAAA
AAAACAGCGACCAAAATCTATTCACAGAGATCATATTGAATCCCCCAAAACACCAATAAAGGGTCCTCCAGTCTCTAGCCTTTCTTTGGCATCGCTGAACACGGGTGATAACGAGAGTGTACATTCAG
GCAAGAGGACGCCAAGATCAGAGTCTGTAGAAGGCTTCTTATCTCCAAGTCGTTGTGGCAGTCGAAATGGAGAAAAAGACTGGGAGAATGCATCAACAACTTCTTCAGTGGCTTCTGGAACAGAATAT
ACAGGACCAAAGCTCTACAAAGAACCCAGTGCAAAATCCAATAAGCACATAATACAAAATGCTTTAGCTCATTGCTGTTTGGCTGGAAAAGTAAATGAAGGTCAGAAGAAAAAAATACTGGAGGAAAT
GGAGAAATCAGATGCCAACAACTTCTTAATCTTGTTCCGGGATTCAGGATGCCAGTTCAGATCTTTATACACTTATTGCCCAGAAACTGAAGAAATCAATAAACTGACTGGGATAGGCCCTAAATCTA
TCACTAAAAAAATGATTGAAGGACTTTACAAATATAATTCTGACAGGAAACAGTTTAGCCACATACCCGCTAAAACTTTATCTGCCAGTGTTGATGCAATTACCATTCATAGCCATTTATGGCAGACC
AAAAGACCAGTAACACCCAAAAAACTTTTACCCACTAAGGCATAGAAGTTGGGAAATACTTGCTTCAGAACATTCATGGTAAATTTGCACTTCATCTTTCCTGCCTATAGAAAATCTTTCTAATTGCC
AACAAGACTTTTATTAATTAAAACTGGACATTAAGCTCTGTTGTCATGAACAACTGGAATGTAAACCACAGTATTTTGGAGTGCAGAACATTCTCAATTAAGTGATAAGTCCAAATGATGAAGGAAAT
GTTTTAATTCACAAATGGAGATTTGTATGTGTTATCAGGTTCACCTGCTTGATATTAGATACATTAAAGCACTGAATTTTCATGGATATTAGTTGGATTTATCATTGAAATATGGTTAAGATTACAAA
TTATGTGTTTTATTTGTTGCTTTTTTTTAACCTTTTAATGTATATTCTTGTCTTCAGATGGTTTGCTATTTTTCTCTCCTGGGGGTTTATTCTAAGATACCTTTGTATTTTATTTCATGTGGAGATCA
TGAAAGTAGGAAATATACCTTTAGAAGTAACTCGCACCTTTCTTATGATGTTAAGAGAAACACTAGTGTTTAGTTTTACAGTAACCCTCATATTTTAATGGTGTTACAGCATTTGCAAAAATTATTCT
GCTAAGTATTTACAACTCTATTTATTATTCACTCAAGTATTAACATTCTCTATTAAATAAGAGGAGGTGTTGTAAAGAGCTGCTAGTAGGTTCGCTTTAAACCACATGAGCTTAACCAAGAATATGTT
ATGAGAAGTTGCTGATTAAATCAGTGCTGTTTTTACACCACTTCTGGCCAACTCAGAATAATTTAGATTGTTCTTTTAACAAAAAAGGCTTTCTATCTCTTTTAAAGTAAGTCACTTTATAAGTTGGC
AGAAGTGAATGACACTTTGAGAGTAGTCTTTCAATCTGAAGATGTAAGACTTCCTGAAACAAGTTCTCAAGAAGTCTTTACATTATATTTATAACTCATATAAAAATTATATTTAGAATTTTTAAACA
TGTACAAAGGGCTACATTTTAATTTTAAAATAGCTTCACATTATTTTACTTATATTGGGTTTTTCTTCATTTTAATCCTTTTCAAGTGGAATGGCTTAGAATAAGTATACACTTGAAATCTCCTCTAC
ATGATCTTTGTTCTTTAACAGTGTATACCAGAGGGTTAGTTGGGGAAAAACTTCATTCTCAGGAAAAGACTTGAATGATTATGTGACCCTGTTATATTTCAGTGTTGTGACAAATGTGTAAACTAGCG
GGGGAAGACAGTATTGTATCATAAATGAGATGCGTAGTTTGTTTTCTTTCATGGGAAGTAGAGATAAAAATATATACATTTCTCTAATTGAGTTGTTTAGAGAAAGAACTAATGTCTCATATGATGTA
TTTACTTATTTTAAAAAAAAGAATAGGAATGAGATGTCCCTGAGCTGTACTTTTCTATTATTATAAGGCCTTTAGGCATCAGTGCATCTGGGTTATCAACATTTTCTCAAATGCTGTCAATATTTTAC
TGTAATTTATGTTCTTATATTTATGTATATTTGTTAAAACTGTAAAAAAATTTCACAGATTTTTTTCCAATACCTGTGCAAGATACATGTGTAGCTCAAAACTATTTGTGATCTACTGTTTGCATGTA
AGAGACCAGGATATGTAACTCTTATATTTTAAGTGTATACATATTGTGTATATAACATATGGATATTAAAAATGGGGAATTGCACATTTTACCTTTTGGACAGTAATTTCTATCACAGTTAGAAGGAA
ATGATAGTCAAATACACGTTTAGATTAAAACTAGTTTAAAAAATTATAAATGAATCTAATCAAAATGTGAATAGTAGTCAAAAGGATAATTTAATAAGCATTTTACGTTACTAAATTTGTTCATTTCA
ATATTAACTAAATTTCCCTCATCAAAGCAATCTTTGTGATATTACTTCGCTATTAAATAAAGAAAATTGGATGCAAGACAATGGAGAAACTTTAAAACTAAACAGGACCACCCTTTATTCTTAAATTT
GTGTGTGTCCAACAGTTGAATTGAATGTCTATAAGGTCTAAAGGTAGAATGTGAATATTGCCACAGAGTTCATTGCTCTCAGTATAAGATTTTACTTTATTAATGCAGAAGGAATATGGATATATTTC
TTTAAGTCTGCAGATTTTTTTATTATGGTGCAGCTTTTTTTTAATTATGTTTTTAAAATTATACAGTTGAAAAATATGCCATTTCATAAAGTCTGAGGATTTTCGTCAACCTTACTGAAACACACTGG
TGCTTTCATCATCAGAGGTCAAATTATTATGATAACTATTCCATTAAGTTTGCCAAACATTTGTCGTGGTTACCAGTGCAGCCTGTCAAATTCTGCTATTTGACACAGCTTTGGAAAGATTTAGTTCT
TGGTTTTTCCGTTTTGTATTAGAATGACTGTTACAGTTTTATTTGGCTGTTTAAAGCCAAATTCAGCTATTTAATTATGGTTTCATGGACACTGTTGAGCAATGTACAGTGTATGGTGTGCTTACCTG
TCCACTCTAGAGCATTGCTTACAGGTTTTTTGTTTTTTAAGATGCTGTGCTGTAAAATACTGTCATACTTGCTATTTCCTGGTACAGTGTAGTTTTTCCCCTTTCATTTGAATAAAAGCATGGCACCA
AA

hide sequence

RefSeq Acc Id:

NM_203459 ⟹ NP_982284

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	200,738,893 - 200,860,704 (+)	NCBI
GRCh37	1	200,708,686 - 200,829,832 (+)	RGD
Build 36	1	198,975,309 - 199,096,455 (+)	NCBI Archive
Celera	1	173,831,311 - 173,953,903 (+)	RGD
HuRef	1	171,875,247 - 171,996,963 (+)	ENTREZGENE
CHM1_1	1	202,131,398 - 202,252,510 (+)	NCBI
T2T-CHM13v2.0	1	199,995,917 - 200,117,682 (+)	NCBI

Sequence:

show sequence

AGTCTCCGCATCTGCTCCTTCATCCAGTGCCGCAGCCGGAAAACCGCAGCGGCGGCGGCGGCGG
CTGAGGGGGAACGATCCAGCGAGCTGCAGAAAGGGGGGCAGGAAAAAATTACAAGGACATTACTGATAAGACAGGAACTGAGAGCTTGGGATTCGCGGCCTCTCCCCGGCCACCACCTTCGCCGTCAG
CAAGGGAGGAAGACCCGGGAGACGGCAGCGGCGACGGCGGCAGGGGAAGGAGGAGACGGCGACGGGAGGGAGCACAGAGGAGGGGACGGGCCGGCGGCGGCCTGTGAGCCGCAGTGATTTTGACGTTT
TCCGCTGCTGCGTCTCCGGCGGGCAGGGGCCGGGCTGCGCTGGGTGGGCCAGCTCGCCCCGCGCTTCCCCCTCGTCCTGCTCGTCCCTCCGCCCACCCGGGGCCTGAGGGGTCTCCCCGCTCCGAGGG
AAGGGGAGAGGGAGGCGAGGGCGTGCGGGCATCGCGATGGCGGGGACATTTTCCACAACGTGATTGTTGAAGGCTCCCCCCATCCCCCCTCCCTTAAAATTCCGGGCCCTTCCAGCCTCCACCCTCCC
CCAAGCCCGTGTGACTAAACCGAGACAAAGGGGAGGCGGCCTCGCTCACACGCGGGCTCGCGGGGCGGGTGGCTCGGAGGGGCGCGGGCACGGGGCGGACCTCGCGCGGACGGACGGACGGAGACGGC
GCCGCCACATTCCTATGCCCGGGAGCGGCGGCGGCGGCGGCGGCGGCTCCCGCGGGAGGCGGCAGGCGCGCGGCGCGGACAGCTGAGCTTCTCCTCCGTCGGCGCCCGGGCGGACATCGCCCGGGCCC
CGATGGTTTGAGCTTGCTTCTCCCTCCCTCCCGACCCCCGTGGTGGCGAGGCCACGCCATGTGAAGGTTAGGGCCGGGACATCCCGAGGAGCCGCGGTGAAAGATGGGGGATGCTGCAGACCCCAGGG
AGATGAGAAAGACGTTCATTGTTCCAGCCATCAAGCCTTTTGACCACTATGATTTCTCCAGGGCCAAAATCGCCTGCAATCTGGCCTGGCTGGTGGCCAAAGCCTTTGGGACAGAAAATGTGCCAGAG
GAACTTCAAGAACCATTTTACACAGATCAGTATGACCAGGAACACATCAAACCACCTGTTGTTAATTTGCTTCTATCGGCTGAACTATACTGTCGTGCTGGGAGTCTCATTCTCAAGAGTGATGCTGC
AAAACCCCTTTTGGGCCATGATGCTGTAATCCAGGCTTTAGCACAGAAAGGTCTTTATGTCACTGACCAGGAAAAATTGGTAACTGAACGAGATCTCCACAAGAAACCCATACAGATGAGTGCACATT
TGGCCATGATCGATACCCTCATGATGGCTTATACTGTAGAAATGGTCAGTATAGAAAAAGTAATTGCGTGTGCTCAGCAGTATTCAGCTTTTTTTCAAGCCACAGATCTGCCCTATGATATTGAGGAC
GCTGTCATGTACTGGATAAATAAGGTAAATGAACATTTGAAAGACATAATGGAACAAGAACAAAAACTGAAAGAACATCACACAGTTGAAGCTCCAGGAGGTCAAAAGGCTCGTTATCGGAAAGAGCA
AACATTGCTTAAGCAACTGCCTTGCATTCCATTGGTAGAAAATTTGTTGAAGGATGGGACAGATGGCTGTGCATTAGCTGCCCTTATTCATTTTTACTGTCCTGATGTTGTCAGATTAGAGGATATTT
GTTTGAAAGAAACTATGTCTTTGGCTGATAGCCTGTATAATCTGCAGCTGATTCAAGAATTTTGCCAAGAATACTTGAACCAGTGTTGCCATTTCACTCTGGAAGATATGCTCTATGCTGCTTCATCC
ATAAAGAGTAATTATTTGGTGTTCATGGCGGAACTGTTCTGGTGGTTTGAAGTGGTGAAGCCGTCTTTTGTACAGCCTCGTGTTGTTCGTCCACAAGGAGCTGAACCTGTAAAAGATATGCCTTCAAT
TCCTGTCTTGAATGCTGCCAAAAGAAATGTCTTAGATAGTAGTTCTGACTTCCCTTCAAGTGGGGAAGGAGCTACATTTACACAGTCTCATCATCATTTGCCTTCTAGGTATTCACGTCCCCAGGCTC
ATTCTTCAGCCTCAGGAGGAATTAGAAGGTCTTCATCTATGTCTTATGTTGATGGCTTCATAGGGACATGGCCCAAAGAGAAAAGATCATCAGTGCATGGCGTATCATTTGATATTTCTTTTGATAAA
GAAGATAGTGTACAGAGATCCACTCCAAACCGAGGAATCACTCGTTCTATTAGTAATGAAGGACTTACTCTGAACAACAGTCATGTATCTAAACACATTAGGAAAAATTTGTCCTTCAAGCCAATAAA
TGGAGAAGAGGAAGCAGAGAGCATTGAAGAAGAACTTAATATAGATTCTCACAGTGACCTCAAATCTTGTGTGCCCCTTAACACAAATGAACTAAATTCTAATGAGAATATTCATTACAAGCTTCCAA
ATGGAGCTTTACAAAATAGAATACTTCTTGACGAGTTTGGCAATCAGATCGAGACACCAAGCATTGAAGAAGCATTACAAATAATTCATGATACTGAAAAATCTCCTCATACACCTCAGCCAGACCAA
ATTGCTAATGGCTTCTTTCTTCATAGTCAAGAAATGAGTATCTTAAATTCAAATATCAAGTTAAATCAATCTAGTCCTGATAATGTAACTGATACGAAAGGTGCCTTGAGTCCCATAACTGACAATAC
TGAAGTAGACACTGGAATTCACGTTCCTTCAGAAGATATTCCTGAAACTATGGACGAAGATTCTTCGTTGAGAGATTATACTGTAAGCTTGGACTCTGACATGGATGATGCATCTAAATTTCTTCAGG
ATTATGATATTCGAACTGGCAACACCAGGGAAGCTTTGAGTCCTTGTCCAAGTACTGTAAGTACCAAGTCTCAGCCAGGCAGCAGTGCTTCTTCTAGTTCTGGAGTTAAAATGACCAGCTTTGCTGAA
CAAAAATTCAGGAAACTGAATCATACCGATGGAAAAAGTAGTGGAAGCAGTTCTCAAAAAACTACACCAGAAGGCTCTGAACTTAATATTCCTCATGTGGTTGCTTGGGCACAAATTCCAGAAGAAAC
AGGGCTTCCACAGGGACGGGACACTACCCAGCTGTTGGCCTCTGAAATGGTGCATCTTAGGATGAAACTAGAAGAAAAGAGGCGTGCTATAGAAGCCCAGAAAAAGAAAATGGAAGCTGCTTTTACCA
AACAGAGACAGAAAATGGGAAGGACAGCATTCCTTACTGTAGTGAAAAAGAAAGGGGATGGGATATCTCCTCTACGAGAGGAAGCGGCGGGTGCAGAAGATGAGAAAGTATATACTGATCGAGCAAAA
GAAAAGGAATCACAAAAAACTGATGGACAAAGGAGCAAGTCACTGGCAGATATAAAAGAGAGCATGGAGAATCCTCAAGCCAAATGGCTAAAGTCTCCAACTACACCTATTGATCCTGAGAAGCAGTG
GAACCTGGCAAGCCCCTCAGAAGAAACTTTAAATGAAGGAGAGATTTTAGAATATACCAAATCCATTGAAAAGTTAAATTCATCCCTGCATTTTCTACAACAAGAAATGCAACGCTTGTCACTTCAGC
AGGAGATGTTAATGCAGATGAGAGAGCAACAATCTTGGGTGATTTCACCTCCACAACCCTCTCCACAGAAACAGATTCGAGATTTTAAGCCTTCTAAGCAGGCAGGCCTGTCATCAGCCATTGCACCA
TTCTCCTCAGACTCCCCTCGTCCTACTCACCCATCTCCACAGTCTTCTAACAGGAAAAGTGCATCTTTTTCTGTTAAAAGTCAAAGGACTCCTAGGCCAAATGAGTTAAAAATAACACCTTTGAATCG
AACCTTGACACCTCCTCGGTCTGTGGATAGCCTTCCTCGGTTAAGGAGGTTTTCACCAAGTCAAGTTCCTATTCAAACTAGGTCATTTGTATGTTTTGGGGATGATGGAGAACCTCAGTTAAAGGAAT
CCAAACCTAAAGAGGAAGTTAAAAAGGAGGAATTGGAATCCAAAGGGACTTTGGAACAGCGTGGACATAATCCAGAAGAAAAGGAAATCAAACCTTTTGAGTCAACAGTCTCTGAAGTCCTATCACTG
CCTGTCACAGAGACTGTATGTCTGACACCAAATGAGGACCAATTGAATCAACCCACAGAACCCCCTCCTAAACCCGTTTTCCCACCCACTGCTCCAAAAAATGTTAATCTGATTGAAGTTTCCCTCTC
AGATTTGAAACCCCCTGAAAAGGCTGATGTACCTGTTGAAAAATATGATGGAGAAAGTGATAAAGAACAATTTGATGATGACCAGAAAGTATGCTGTGGATTCTTTTTTAAGGATGATCAAAAAGCAG
AAAATGATATGGCAATGAAACGGGCAGCTTTGTTGGAGAAAAGATTAAGAAGGGAAAAGGAAACTCAGCTCCGGAAACAACAGTTGGAAGCAGAAATGGAGCATAAGAAGGAGGAAACAAGGCGTAAA
ACTGAGGAAGAACGTCAGAAGAAAGAAGATGAGAGAGCACGCAGAGAATTTATTAGGCAAGAATATATGAGGCGGAAACAACTGAAACTAATGGAAGATATGGATACAGTAATTAAACCCCGTCCTCA
AGTAGTAAAACAAAAAAAACAGCGACCAAAATCTATTCACAGAGATCATATTGAATCCCCCAAAACACCAATAAAGGGTCCTCCAGTCTCTAGCCTTTCTTTGGCATCGCTGAACACGGGTGATAACG
AGAGTGTACATTCAGGCAAGAGGACGCCAAGATCAGAGTCTGTAGAAGGCTTCTTATCTCCAAGTCGTTGTGGCAGTCGAAATGGAGAAAAAGACTGGGAGAATGCATCAACAACTTCTTCAGTGGCT
TCTGGAACAGAATATACAGGACCAAAGCTCTACAAAGAACCCAGTGCAAAATCCAATAAGCACATAATACAAAATGCTTTAGCTCATTGCTGTTTGGCTGGAAAAGTAAATGAAGGTCAGAAGAAAAA
AATACTGGAGGAAATGGAGAAATCAGATGCCAACAACTTCTTAATCTTGTTCCGGGATTCAGGATGCCAGTTCAGATCTTTATACACTTATTGCCCAGAAACTGAAGAAATCAATAAACTGACTGGGA
TAGGCCCTAAATCTATCACTAAAAAAATGATTGAAGGACTTTACAAATATAATTCTGACAGGAAACAGTTTAGCCACATACCCGCTAAAACTTTATCTGCCAGTGTTGATGCAATTACCATTCATAGC
CATTTATGGCAGACCAAAAGACCAGTAACACCCAAAAAACTTTTACCCACTAAGGCATAGAAGTTGGGAAATACTTGCTTCAGAACATTCATGGTAAATTTGCACTTCATCTTTCCTGCCTATAGAAA
ATCTTTCTAATTGCCAACAAGACTTTTATTAATTAAAACTGGACATTAAGCTCTGTTGTCATGAACAACTGGAATGTAAACCACAGTATTTTGGAGTGCAGAACATTCTCAATTAAGTGATAAGTCCA
AATGATGAAGGAAATGTTTTAATTCACAAATGGAGATTTGTATGTGTTATCAGGTTCACCTGCTTGATATTAGATACATTAAAGCACTGAATTTTCATGGATATTAGTTGGATTTATCATTGAAATAT
GGTTAAGATTACAAATTATGTGTTTTATTTGTTGCTTTTTTTTAACCTTTTAATGTATATTCTTGTCTTCAGATGGTTTGCTATTTTTCTCTCCTGGGGGTTTATTCTAAGATACCTTTGTATTTTAT
TTCATGTGGAGATCATGAAAGTAGGAAATATACCTTTAGAAGTAACTCGCACCTTTCTTATGATGTTAAGAGAAACACTAGTGTTTAGTTTTACAGTAACCCTCATATTTTAATGGTGTTACAGCATT
TGCAAAAATTATTCTGCTAAGTATTTACAACTCTATTTATTATTCACTCAAGTATTAACATTCTCTATTAAATAAGAGGAGGTGTTGTAAAGAGCTGCTAGTAGGTTCGCTTTAAACCACATGAGCTT
AACCAAGAATATGTTATGAGAAGTTGCTGATTAAATCAGTGCTGTTTTTACACCACTTCTGGCCAACTCAGAATAATTTAGATTGTTCTTTTAACAAAAAAGGCTTTCTATCTCTTTTAAAGTAAGTC
ACTTTATAAGTTGGCAGAAGTGAATGACACTTTGAGAGTAGTCTTTCAATCTGAAGATGTAAGACTTCCTGAAACAAGTTCTCAAGAAGTCTTTACATTATATTTATAACTCATATAAAAATTATATT
TAGAATTTTTAAACATGTACAAAGGGCTACATTTTAATTTTAAAATAGCTTCACATTATTTTACTTATATTGGGTTTTTCTTCATTTTAATCCTTTTCAAGTGGAATGGCTTAGAATAAGTATACACT
TGAAATCTCCTCTACATGATCTTTGTTCTTTAACAGTGTATACCAGAGGGTTAGTTGGGGAAAAACTTCATTCTCAGGAAAAGACTTGAATGATTATGTGACCCTGTTATATTTCAGTGTTGTGACAA
ATGTGTAAACTAGCGGGGGAAGACAGTATTGTATCATAAATGAGATGCGTAGTTTGTTTTCTTTCATGGGAAGTAGAGATAAAAATATATACATTTCTCTAATTGAGTTGTTTAGAGAAAGAACTAAT
GTCTCATATGATGTATTTACTTATTTTAAAAAAAAGAATAGGAATGAGATGTCCCTGAGCTGTACTTTTCTATTATTATAAGGCCTTTAGGCATCAGTGCATCTGGGTTATCAACATTTTCTCAAATG
CTGTCAATATTTTACTGTAATTTATGTTCTTATATTTATGTATATTTGTTAAAACTGTAAAAAAATTTCACAGATTTTTTTCCAATACCTGTGCAAGATACATGTGTAGCTCAAAACTATTTGTGATC
TACTGTTTGCATGTAAGAGACCAGGATATGTAACTCTTATATTTTAAGTGTATACATATTGTGTATATAACATATGGATATTAAAAATGGGGAATTGCACATTTTACCTTTTGGACAGTAATTTCTAT
CACAGTTAGAAGGAAATGATAGTCAAATACACGTTTAGATTAAAACTAGTTTAAAAAATTATAAATGAATCTAATCAAAATGTGAATAGTAGTCAAAAGGATAATTTAATAAGCATTTTACGTTACTA
AATTTGTTCATTTCAATATTAACTAAATTTCCCTCATCAAAGCAATCTTTGTGATATTACTTCGCTATTAAATAAAGAAAATTGGATGCAAGACAATGGAGAAACTTTAAAACTAAACAGGACCACCC
TTTATTCTTAAATTTGTGTGTGTCCAACAGTTGAATTGAATGTCTATAAGGTCTAAAGGTAGAATGTGAATATTGCCACAGAGTTCATTGCTCTCAGTATAAGATTTTACTTTATTAATGCAGAAGGA
ATATGGATATATTTCTTTAAGTCTGCAGATTTTTTTATTATGGTGCAGCTTTTTTTTAATTATGTTTTTAAAATTATACAGTTGAAAAATATGCCATTTCATAAAGTCTGAGGATTTTCGTCAACCTT
ACTGAAACACACTGGTGCTTTCATCATCAGAGGTCAAATTATTATGATAACTATTCCATTAAGTTTGCCAAACATTTGTCGTGGTTACCAGTGCAGCCTGTCAAATTCTGCTATTTGACACAGCTTTG
GAAAGATTTAGTTCTTGGTTTTTCCGTTTTGTATTAGAATGACTGTTACAGTTTTATTTGGCTGTTTAAAGCCAAATTCAGCTATTTAATTATGGTTTCATGGACACTGTTGAGCAATGTACAGTGTA
TGGTGTGCTTACCTGTCCACTCTAGAGCATTGCTTACAGGTTTTTTGTTTTTTAAGATGCTGTGCTGTAAAATACTGTCATACTTGCTATTTCCTGGTACAGTGTAGTTTTTCCCCTTTCATTTGAAT
AAAAGCATGGCACCAAA

hide sequence

RefSeq Acc Id:

XM_017000799 ⟹ XP_016856288

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	200,738,893 - 200,860,704 (+)	NCBI

Sequence:

show sequence

TGCTCCTTCATCCAGTGCCGCAGCCGGAAAACCGCAGCGGCGGCGGCGGCGGCTGAGGGGGAAC
GATCCAGCGAGCTGCAGAAAGGGGGGCAGGAAAAAATTACAAGGACATTACTGATAAGACAGGAACTGAGAGCTTGGGATTCGCGGCCTCTCCCCGGCCACCACCTTCGCCGTCAGCAAGGGAGGAAG
ACCCGGGAGACGGCAGCGGCGACGGCGGCAGGGGAAGGAGGAGACGGCGACGGGAGGGAGCACAGAGGAGGGGACGGGCCGGCGGCGGCCTGTGAGCCGCAGTGATTTTGACGTTTTCCGCTGCTGCG
TCTCCGGCGGGCAGGGGCCGGGCTGCGCTGGGTGGGCCAGCTCGCCCCGCGCTTCCCCCTCGTCCTGCTCGTCCCTCCGCCCACCCGGGGCCTGAGGGGTCTCCCCGCTCCGAGGGAAGGGGAGAGGG
AGGCGAGGGCGTGCGGGCATCGCGATGGCGGGGACATTTTCCACAACGTGATTGTTGAAGGCTCCCCCCATCCCCCCTCCCTTAAAATTCCGGGCCCTTCCAGCCTCCACCCTCCCCCAAGCCCGTGT
GACTAAACCGAGACAAAGGGGAGGCGGCCTCGCTCACACGCGGGCTCGCGGGGCGGGTGGCTCGGAGGGGCGCGGGCACGGGGCGGACCTCGCGCGGACGGACGGACGGAGACGGCGCCGCCACATTC
CTATGCCCGGGAGCGGCGGCGGCGGCGGCGGCGGCTCCCGCGGGAGGCGGCAGGCGCGCGGCGCGGACAGCTGAGCTTCTCCTCCGTCGGCGCCCGGGCGGACATCGCCCGGGCCCCGATGGTTTGAG
CTTGCTTCTCCCTCCCTCCCGACCCCCGTGGTGGCGAGGCCACGCCATGTGAAGGTTAGGGCCGGGACATCCCGAGGAGCCGCGGTGAAAGATGGGGGATGCTGCAGACCCCAGGGAGATGAGAAAGA
CGTTCATTGTTCCAGCCATCAAGCCTTTTGACCACTATGATTTCTCCAGGGCCAAAATCGCCTGCAATCTGGCCTGGCTGGTGGCCAAAGCCTTTGGGACAGAGTGCACATTTGGCCATGATCGATAC
CCTCATGATGGCTTATACTGTAGAAATGGTCAGTATAGAAAAAGTAATTGCGTGTGCTCAGCAGTATTCAGCTTTTTTTCAAGCCACAGATCTGCCCTATGATATTGAGGACGCTGTCATGTACTGGA
TAAATAAGGTAAATGAACATTTGAAAGACATAATGGAACAAGAACAAAAACTGAAAGAACATCACACAGTTGAAGCTCCAGGAGGTCAAAAGTCTCCTTCCAAATGGTTTTGGAAACTGGTTCCAGCT
CGTTATCGGAAAGAGCAAACATTGCTTAAGCAACTGCCTTGCATTCCATTGGTAGAAAATTTGTTGAAGGATGGGACAGATGGCTGTGCATTAGCTGCCCTTATTCATTTTTACTGTCCTGATGTTGT
CAGATTAGAGGATATTTGTTTGAAAGAAACTATGTCTTTGGCTGATAGCCTGTATAATCTGCAGCTGATTCAAGAATTTTGCCAAGAATACTTGAACCAGTGTTGCCATTTCACTCTGGAAGATATGC
TCTATGCTGCTTCATCCATAAAGAGTAATTATTTGGTGTTCATGGCGGAACTGTTCTGGTGGTTTGAAGTGGTGAAGCCGTCTTTTGTACAGCCTCGTGTTGTTCGTCCACAAGGAGCTGAACCTGTA
AAAGATATGCCTTCAATTCCTGTCTTGAATGCTGCCAAAAGAAATGTCTTAGATAGTAGTTCTGACTTCCCTTCAAGTGGGGAAGGAGCTACATTTACACAGTCTCATCATCATTTGCCTTCTAGGTA
TTCACGTCCCCAGGCTCATTCTTCAGCCTCAGGAGGAATTAGAAGGTCTTCATCTATGTCTTATGTTGATGGCTTCATAGGGACATGGCCCAAAGAGAAAAGATCATCAGTGCATGGCGTATCATTTG
ATATTTCTTTTGATAAAGAAGATAGTGTACAGAGATCCACTCCAAACCGAGGAATCACTCGTTCTATTAGTAATGAAGGACTTACTCTGAACAACAGTCATGTATCTAAACACATTAGGAAAAATTTG
TCCTTCAAGCCAATAAATGGAGAAGAGGAAGCAGAGAGCATTGAAGAAGAACTTAATATAGATTCTCACAGTGACCTCAAATCTTGTGTGCCCCTTAACACAAATGAACTAAATTCTAATGAGAATAT
TCATTACAAGCTTCCAAATGGAGCTTTACAAAATAGAATACTTCTTGACGAGTTTGGCAATCAGATCGAGACACCAAGCATTGAAGAAGCATTACAAATAATTCATGATACTGAAAAATCTCCTCATA
CACCTCAGCCAGACCAAATTGCTAATGGCTTCTTTCTTCATAGTCAAGAAATGAGTATCTTAAATTCAAATATCAAGTTAAATCAATCTAGTCCTGATAATGTAACTGATACGAAAGGTGCCTTGAGT
CCCATAACTGACAATACTGAAGTAGACACTGGAATTCACGTTCCTTCAGAAGATATTCCTGAAACTATGGACGAAGATTCTTCGTTGAGAGATTATACTGTAAGCTTGGACTCTGACATGGATGATGC
ATCTAAATTTCTTCAGGATTATGATATTCGAACTGGCAACACCAGGGAAGCTTTGAGTCCTTGTCCAAGTACTGTAAGTACCAAGTCTCAGCCAGGCAGCAGTGCTTCTTCTAGTTCTGGAGTTAAAA
TGACCAGCTTTGCTGAACAAAAATTCAGGAAACTGAATCATACCGATGGAAAAAGTAGTGGAAGCAGTTCTCAAAAAACTACACCAGAAGGCTCTGAACTTAATATTCCTCATGTGGTTGCTTGGGCA
CAAATTCCAGAAGAAACAGGGCTTCCACAGGGACGGGACACTACCCAGCTGTTGGCCTCTGAAATGGTGCATCTTAGGATGAAACTAGAAGAAAAGAGGCGTGCTATAGAAGCCCAGAAAAAGAAAAT
GGAAGCTGCTTTTACCAAACAGAGACAGAAAATGGGAAGGACAGCATTCCTTACTGTAGTGAAAAAGAAAGGGGATGGGATATCTCCTCTACGAGAGGAAGCGGCGGGTGCAGAAGATGAGAAAGTAT
ATACTGATCGAGCAAAAGAAAAGGAATCACAAAAAACTGATGGACAAAGGAGCAAGTCACTGGCAGATATAAAAGAGAGCATGGAGAATCCTCAAGCCAAATGGCTAAAGTCTCCAACTACACCTATT
GATCCTGAGAAGCAGTGGAACCTGGCAAGCCCCTCAGAAGAAACTTTAAATGAAGGAGAGATTTTAGAATATACCAAATCCATTGAAAAGTTAAATTCATCCCTGCATTTTCTACAACAAGAAATGCA
ACGCTTGTCACTTCAGCAGGAGATGTTAATGCAGATGAGAGAGCAACAATCTTGGGTGATTTCACCTCCACAACCCTCTCCACAGAAACAGATTCGAGATTTTAAGCCTTCTAAGCAGGCAGGCCTGT
CATCAGCCATTGCACCATTCTCCTCAGACTCCCCTCGTCCTACTCACCCATCTCCACAGTCTTCTAACAGGAAAAGTGCATCTTTTTCTGTTAAAAGTCAAAGGACTCCTAGGCCAAATGAGTTAAAA
ATAACACCTTTGAATCGAACCTTGACACCTCCTCGGTCTGTGGATAGCCTTCCTCGGTTAAGGAGGTTTTCACCAAGTCAAGTTCCTATTCAAACTAGGTCATTTGTATGTTTTGGGGATGATGGAGA
ACCTCAGTTAAAGGAATCCAAACCTAAAGAGGAAGTTAAAAAGGAGGAATTGGAATCCAAAGGGACTTTGGAACAGCGTGGACATAATCCAGAAGAAAAGGAAATCAAACCTTTTGAGTCAACAGTCT
CTGAAGTCCTATCACTGCCTGTCACAGAGACTGTATGTCTGACACCAAATGAGGACCAATTGAATCAACCCACAGAACCCCCTCCTAAACCCGTTTTCCCACCCACTGCTCCAAAAAATGTTAATCTG
ATTGAAGTTTCCCTCTCAGATTTGAAACCCCCTGAAAAGGCTGATGTACCTGTTGAAAAATATGATGGAGAAAGTGATAAAGAACAATTTGATGATGACCAGAAAGTATGCTGTGGATTCTTTTTTAA
GGATGATCAAAAAGCAGAAAATGATATGGCAATGAAACGGGCAGCTTTGTTGGAGAAAAGATTAAGAAGGGAAAAGGAAACTCAGCTCCGGAAACAACAGTTGGAAGCAGAAATGGAGCATAAGAAGG
AGGAAACAAGGCGTAAAACTGAGGAAGAACGTCAGAAGAAAGAAGATGAGAGAGCACGCAGAGAATTTATTAGGCAAGAATATATGAGGCGGAAACAACTGAAACTAATGGAAGATATGGATACAGTA
ATTAAACCCCGTCCTCAAGTAGTAAAACAAAAAAAACAGCGACCAAAATCTATTCACAGAGATCATATTGAATCCCCCAAAACACCAATAAAGGGTCCTCCAGTCTCTAGCCTTTCTTTGGCATCGCT
GAACACGGGTGATAACGAGAGTGTACATTCAGGCAAGAGGACGCCAAGATCAGAGTCTGTAGAAGGCTTCTTATCTCCAAGTCGTTGTGGCAGTCGAAATGGAGAAAAAGACTGGGAGAATGCATCAA
CAACTTCTTCAGTGGCTTCTGGAACAGAATATACAGGACCAAAGCTCTACAAAGAACCCAGTGCAAAATCCAATAAGCACATAATACAAAATGCTTTAGCTCATTGCTGTTTGGCTGGAAAAGTAAAT
GAAGGTCAGAAGAAAAAAATACTGGAGGAAATGGAGAAATCAGATGCCAACAACTTCTTAATCTTGTTCCGGGATTCAGGATGCCAGTTCAGATCTTTATACACTTATTGCCCAGAAACTGAAGAAAT
CAATAAACTGACTGGGATAGGCCCTAAATCTATCACTAAAAAAATGATTGAAGGACTTTACAAATATAATTCTGACAGGAAACAGTTTAGCCACATACCCGCTAAAACTTTATCTGCCAGTGTTGATG
CAATTACCATTCATAGCCATTTATGGCAGACCAAAAGACCAGTAACACCCAAAAAACTTTTACCCACTAAGGCATAGAAGTTGGGAAATACTTGCTTCAGAACATTCATGGTAAATTTGCACTTCATC
TTTCCTGCCTATAGAAAATCTTTCTAATTGCCAACAAGACTTTTATTAATTAAAACTGGACATTAAGCTCTGTTGTCATGAACAACTGGAATGTAAACCACAGTATTTTGGAGTGCAGAACATTCTCA
ATTAAGTGATAAGTCCAAATGATGAAGGAAATGTTTTAATTCACAAATGGAGATTTGTATGTGTTATCAGGTTCACCTGCTTGATATTAGATACATTAAAGCACTGAATTTTCATGGATATTAGTTGG
ATTTATCATTGAAATATGGTTAAGATTACAAATTATGTGTTTTATTTGTTGCTTTTTTTTAACCTTTTAATGTATATTCTTGTCTTCAGATGGTTTGCTATTTTTCTCTCCTGGGGGTTTATTCTAAG
ATACCTTTGTATTTTATTTCATGTGGAGATCATGAAAGTAGGAAATATACCTTTAGAAGTAACTCGCACCTTTCTTATGATGTTAAGAGAAACACTAGTGTTTAGTTTTACAGTAACCCTCATATTTT
AATGGTGTTACAGCATTTGCAAAAATTATTCTGCTAAGTATTTACAACTCTATTTATTATTCACTCAAGTATTAACATTCTCTATTAAATAAGAGGAGGTGTTGTAAAGAGCTGCTAGTAGGTTCGCT
TTAAACCACATGAGCTTAACCAAGAATATGTTATGAGAAGTTGCTGATTAAATCAGTGCTGTTTTTACACCACTTCTGGCCAACTCAGAATAATTTAGATTGTTCTTTTAACAAAAAAGGCTTTCTAT
CTCTTTTAAAGTAAGTCACTTTATAAGTTGGCAGAAGTGAATGACACTTTGAGAGTAGTCTTTCAATCTGAAGATGTAAGACTTCCTGAAACAAGTTCTCAAGAAGTCTTTACATTATATTTATAACT
CATATAAAAATTATATTTAGAATTTTTAAACATGTACAAAGGGCTACATTTTAATTTTAAAATAGCTTCACATTATTTTACTTATATTGGGTTTTTCTTCATTTTAATCCTTTTCAAGTGGAATGGCT
TAGAATAAGTATACACTTGAAATCTCCTCTACATGATCTTTGTTCTTTAACAGTGTATACCAGAGGGTTAGTTGGGGAAAAACTTCATTCTCAGGAAAAGACTTGAATGATTATGTGACCCTGTTATA
TTTCAGTGTTGTGACAAATGTGTAAACTAGCGGGGGAAGACAGTATTGTATCATAAATGAGATGCGTAGTTTGTTTTCTTTCATGGGAAGTAGAGATAAAAATATATACATTTCTCTAATTGAGTTGT
TTAGAGAAAGAACTAATGTCTCATATGATGTATTTACTTATTTTAAAAAAAAGAATAGGAATGAGATGTCCCTGAGCTGTACTTTTCTATTATTATAAGGCCTTTAGGCATCAGTGCATCTGGGTTAT
CAACATTTTCTCAAATGCTGTCAATATTTTACTGTAATTTATGTTCTTATATTTATGTATATTTGTTAAAACTGTAAAAAAATTTCACAGATTTTTTTCCAATACCTGTGCAAGATACATGTGTAGCT
CAAAACTATTTGTGATCTACTGTTTGCATGTAAGAGACCAGGATATGTAACTCTTATATTTTAAGTGTATACATATTGTGTATATAACATATGGATATTAAAAATGGGGAATTGCACATTTTACCTTT
TGGACAGTAATTTCTATCACAGTTAGAAGGAAATGATAGTCAAATACACGTTTAGATTAAAACTAGTTTAAAAAATTATAAATGAATCTAATCAAAATGTGAATAGTAGTCAAAAGGATAATTTAATA
AGCATTTTACGTTACTAAATTTGTTCATTTCAATATTAACTAAATTTCCCTCATCAAAGCAATCTTTGTGATATTACTTCGCTATTAAATAAAGAAAATTGGATGCAAGACAATGGAGAAACTTTAAA
ACTAAACAGGACCACCCTTTATTCTTAAATTTGTGTGTGTCCAACAGTTGAATTGAATGTCTATAAGGTCTAAAGGTAGAATGTGAATATTGCCACAGAGTTCATTGCTCTCAGTATAAGATTTTACT
TTATTAATGCAGAAGGAATATGGATATATTTCTTTAAGTCTGCAGATTTTTTTATTATGGTGCAGCTTTTTTTTAATTATGTTTTTAAAATTATACAGTTGAAAAATATGCCATTTCATAAAGTCTGA
GGATTTTCGTCAACCTTACTGAAACACACTGGTGCTTTCATCATCAGAGGTCAAATTATTATGATAACTATTCCATTAAGTTTGCCAAACATTTGTCGTGGTTACCAGTGCAGCCTGTCAAATTCTGC
TATTTGACACAGCTTTGGAAAGATTTAGTTCTTGGTTTTTCCGTTTTGTATTAGAATGACTGTTACAGTTTTATTTGGCTGTTTAAAGCCAAATTCAGCTATTTAATTATGGTTTCATGGACACTGTT
GAGCAATGTACAGTGTATGGTGTGCTTACCTGTCCACTCTAGAGCATTGCTTACAGGTTTTTTGTTTTTTAAGATGCTGTGCTGTAAAATACTGTCATACTTGCTATTTCCTGGTACAGTGTAGTTTT
TCCCCTTTCATTTGAATAAAAGCATGGCACCAAATGA

hide sequence

RefSeq Acc Id:

XM_047416200 ⟹ XP_047272156

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	200,738,893 - 200,860,704 (+)	NCBI

RefSeq Acc Id:

XM_047416203 ⟹ XP_047272159

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	200,738,893 - 200,860,704 (+)	NCBI

RefSeq Acc Id:

XM_054335487 ⟹ XP_054191462

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	199,995,917 - 200,117,682 (+)	NCBI

RefSeq Acc Id:

XM_054335488 ⟹ XP_054191463

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	199,995,917 - 200,117,682 (+)	NCBI

RefSeq Acc Id:

XM_054335489 ⟹ XP_054191464

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	199,995,917 - 200,117,682 (+)	NCBI


Protein RefSeqs	NP_001284636	(Get FASTA)	NCBI Sequence Viewer
	NP_001284637	(Get FASTA)	NCBI Sequence Viewer
	NP_001376567	(Get FASTA)	NCBI Sequence Viewer
	NP_982284	(Get FASTA)	NCBI Sequence Viewer
	XP_016856288	(Get FASTA)	NCBI Sequence Viewer
	XP_047272156	(Get FASTA)	NCBI Sequence Viewer
	XP_047272159	(Get FASTA)	NCBI Sequence Viewer
	XP_054191462	(Get FASTA)	NCBI Sequence Viewer
	XP_054191463	(Get FASTA)	NCBI Sequence Viewer
	XP_054191464	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH11385	(Get FASTA)	NCBI Sequence Viewer
	AAH56910	(Get FASTA)	NCBI Sequence Viewer
	AAI25230	(Get FASTA)	NCBI Sequence Viewer
	AAI25231	(Get FASTA)	NCBI Sequence Viewer
	BAA83030	(Get FASTA)	NCBI Sequence Viewer
	BAG53096	(Get FASTA)	NCBI Sequence Viewer
	BAG54376	(Get FASTA)	NCBI Sequence Viewer
	CAB53664	(Get FASTA)	NCBI Sequence Viewer
	EAW91320	(Get FASTA)	NCBI Sequence Viewer
	EAW91321	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000236925
	ENSP00000236925.4
	ENSP00000351684
	ENSP00000351684.2
	ENSP00000416800
	ENSP00000416800.2
GenBank Protein	Q08AD1	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_982284 ⟸ NM_203459
- Peptide Label:	isoform 2
- UniProtKB:	Q08AD1 (UniProtKB/Swiss-Prot), B3KTI4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGDAADPREMRKTFIVPAIKPFDHYDFSRAKIACNLAWLVAKAFGTENVPEELQEPFYTDQYDQEHIKPPVVNLLLSAELYCRAGSLILKSDAAKPLLGHDAVIQALAQKGLYVTDQEKLVTERDLHK KPIQMSAHLAMIDTLMMAYTVEMVSIEKVIACAQQYSAFFQATDLPYDIEDAVMYWINKVNEHLKDIMEQEQKLKEHHTVEAPGGQKARYRKEQTLLKQLPCIPLVENLLKDGTDGCALAALIHFYCP DVVRLEDICLKETMSLADSLYNLQLIQEFCQEYLNQCCHFTLEDMLYAASSIKSNYLVFMAELFWWFEVVKPSFVQPRVVRPQGAEPVKDMPSIPVLNAAKRNVLDSSSDFPSSGEGATFTQSHHHLP SRYSRPQAHSSASGGIRRSSSMSYVDGFIGTWPKEKRSSVHGVSFDISFDKEDSVQRSTPNRGITRSISNEGLTLNNSHVSKHIRKNLSFKPINGEEEAESIEEELNIDSHSDLKSCVPLNTNELNSN ENIHYKLPNGALQNRILLDEFGNQIETPSIEEALQIIHDTEKSPHTPQPDQIANGFFLHSQEMSILNSNIKLNQSSPDNVTDTKGALSPITDNTEVDTGIHVPSEDIPETMDEDSSLRDYTVSLDSDM DDASKFLQDYDIRTGNTREALSPCPSTVSTKSQPGSSASSSSGVKMTSFAEQKFRKLNHTDGKSSGSSSQKTTPEGSELNIPHVVAWAQIPEETGLPQGRDTTQLLASEMVHLRMKLEEKRRAIEAQK KKMEAAFTKQRQKMGRTAFLTVVKKKGDGISPLREEAAGAEDEKVYTDRAKEKESQKTDGQRSKSLADIKESMENPQAKWLKSPTTPIDPEKQWNLASPSEETLNEGEILEYTKSIEKLNSSLHFLQQ EMQRLSLQQEMLMQMREQQSWVISPPQPSPQKQIRDFKPSKQAGLSSAIAPFSSDSPRPTHPSPQSSNRKSASFSVKSQRTPRPNELKITPLNRTLTPPRSVDSLPRLRRFSPSQVPIQTRSFVCFGD DGEPQLKESKPKEEVKKEELESKGTLEQRGHNPEEKEIKPFESTVSEVLSLPVTETVCLTPNEDQLNQPTEPPPKPVFPPTAPKNVNLIEVSLSDLKPPEKADVPVEKYDGESDKEQFDDDQKVCCGF FFKDDQKAENDMAMKRAALLEKRLRREKETQLRKQQLEAEMEHKKEETRRKTEEERQKKEDERARREFIRQEYMRRKQLKLMEDMDTVIKPRPQVVKQKKQRPKSIHRDHIESPKTPIKGPPVSSLSL ASLNTGDNESVHSGKRTPRSESVEGFLSPSRCGSRNGEKDWENASTTSSVASGTEYTGPKLYKEPSAKSNKHIIQNALAHCCLAGKVNEGQKKKILEEMEKSDANNFLILFRDSGCQFRSLYTYCPET EEINKLTGIGPKSITKKMIEGLYKYNSDRKQFSHIPAKTLSASVDAITIHSHLWQTKRPVTPKKLLPTKA hide sequence

RefSeq Acc Id:	NP_001284636 ⟸ NM_001297707
- Peptide Label:	isoform 1
- UniProtKB:	Q9UG20 (UniProtKB/Swiss-Prot), Q96FB3 (UniProtKB/Swiss-Prot), Q6PGN8 (UniProtKB/Swiss-Prot), Q08AD2 (UniProtKB/Swiss-Prot), B1APG6 (UniProtKB/Swiss-Prot), Q9UPS4 (UniProtKB/Swiss-Prot), Q08AD1 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MGDAADPREMRKTFIVPAIKPFDHYDFSRAKIACNLAWLVAKAFGTENVPEELQEPFYTDQYDQEHIKPPVVNLLLSAELYCRAGSLILKSDAAKPLLGHDAVIQALAQKGLYVTDQEKLVTERDLHK KPIQMSAHLAMIDTLMMAYTVEMVSIEKVIACAQQYSAFFQATDLPYDIEDAVMYWINKVNEHLKDIMEQEQKLKEHHTVEAPGGQKSPSKWFWKLVPARYRKEQTLLKQLPCIPLVENLLKDGTDGC ALAALIHFYCPDVVRLEDICLKETMSLADSLYNLQLIQEFCQEYLNQCCHFTLEDMLYAASSIKSNYLVFMAELFWWFEVVKPSFVQPRVVRPQGAEPVKDMPSIPVLNAAKRNVLDSSSDFPSSGEG ATFTQSHHHLPSRYSRPQAHSSASGGIRRSSSMSYVDGFIGTWPKEKRSSVHGVSFDISFDKEDSVQRSTPNRGITRSISNEGLTLNNSHVSKHIRKNLSFKPINGEEEAESIEEELNIDSHSDLKSC VPLNTNELNSNENIHYKLPNGALQNRILLDEFGNQIETPSIEEALQIIHDTEKSPHTPQPDQIANGFFLHSQEMSILNSNIKLNQSSPDNVTDTKGALSPITDNTEVDTGIHVPSEDIPETMDEDSSL RDYTVSLDSDMDDASKFLQDYDIRTGNTREALSPCPSTVSTKSQPGSSASSSSGVKMTSFAEQKFRKLNHTDGKSSGSSSQKTTPEGSELNIPHVVAWAQIPEETGLPQGRDTTQLLASEMVHLRMKL EEKRRAIEAQKKKMEAAFTKQRQKMGRTAFLTVVKKKGDGISPLREEAAGAEDEKVYTDRAKEKESQKTDGQRSKSLADIKESMENPQAKWLKSPTTPIDPEKQWNLASPSEETLNEGEILEYTKSIE KLNSSLHFLQQEMQRLSLQQEMLMQMREQQSWVISPPQPSPQKQIRDFKPSKQAGLSSAIAPFSSDSPRPTHPSPQSSNRKSASFSVKSQRTPRPNELKITPLNRTLTPPRSVDSLPRLRRFSPSQVP IQTRSFVCFGDDGEPQLKESKPKEEVKKEELESKGTLEQRGHNPEEKEIKPFESTVSEVLSLPVTETVCLTPNEDQLNQPTEPPPKPVFPPTAPKNVNLIEVSLSDLKPPEKADVPVEKYDGESDKEQ FDDDQKVCCGFFFKDDQKAENDMAMKRAALLEKRLRREKETQLRKQQLEAEMEHKKEETRRKTEEERQKKEDERARREFIRQEYMRRKQLKLMEDMDTVIKPRPQVVKQKKQRPKSIHRDHIESPKTP IKGPPVSSLSLASLNTGDNESVHSGKRTPRSESVEGFLSPSRCGSRNGEKDWENASTTSSVASGTEYTGPKLYKEPSAKSNKHIIQNALAHCCLAGKVNEGQKKKILEEMEKSDANNFLILFRDSGCQ FRSLYTYCPETEEINKLTGIGPKSITKKMIEGLYKYNSDRKQFSHIPAKTLSASVDAITIHSHLWQTKRPVTPKKLLPTKA hide sequence

RefSeq Acc Id:	NP_001284637 ⟸ NM_001297708
- Peptide Label:	isoform 3
- UniProtKB:	Q08AD1 (UniProtKB/Swiss-Prot), B3KTI4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGDAADPREMRKTFIVPAIKPFDHYDFSRAKIACNLAWLVAKAFGTENVPEELQEPFYTDQYDQEHIKPPVVNLLLSAELYCRAGSLILKSDAAKPLLGHDAVIQALAQKGLYVTDQEKLVTERDLHK KPIQMSAHLAMIDTLMMAYTVEMVSIEKVIACAQQYSAFFQATDLPYDIEDAVMYWINKVNEHLKDIMEQEQKLKEHHTVEAPGGQKARYRKEQTLLKQLPCIPLVENLLKDGTDGCALAALIHFYCP DVVRLEDICLKETMSLADSLYNLQLIQEFCQEYLNQCCHFTLEDMLYAASSIKSNYLVFMAELFWWFEVVKPSFVQPRVVRPQGAEPVKDMPSIPVLNAAKRNVLDSSSDFPSRYSRPQAHSSASGGI RRSSSMSYVDGFIGTWPKEKRSSVHGVSFDISFDKEDSVQRSTPNRGITRSISNEGLTLNNSHVSKHIRKNLSFKPINGEEEAESIEEELNIDSHSDLKSCVPLNTNELNSNENIHYKLPNGALQNRI LLDEFGNQIETPSIEEALQIIHDTEKSPHTPQPDQIANGFFLHSQEMSILNSNIKLNQSSPDNVTDTKGALSPITDNTEVDTGIHVPSEDIPETMDEDSSLRDYTVSLDSDMDDASKFLQDYDIRTGN TREALSPCPSTVSTKSQPGSSASSSSGVKMTSFAEQKFRKLNHTDGKSSGSSSQKTTPEGSELNIPHVVAWAQIPEETGLPQGRDTTQLLASEMVHLRMKLEEKRRAIEAQKKKMEAAFTKQRQKMGR TAFLTVVKKKGDGISPLREEAAGAEDEKVYTDRAKEKESQKTDGQRSKSLADIKESMENPQAKWLKSPTTPIDPEKQWNLASPSEETLNEGEILEYTKSIEKLNSSLHFLQQEMQRLSLQQEMLMQMR EQQSWVISPPQPSPQKQIRDFKPSKQAGLSSAIAPFSSDSPRPTHPSPQSSNRKSASFSVKSQRTPRPNELKITPLNRTLTPPRSVDSLPRLRRFSPSQVPIQTRSFVCFGDDGEPQLKESKPKEEVK KEELESKGTLEQRGHNPEEKEIKPFESTVSEVLSLPVTETVCLTPNEDQLNQPTEPPPKPVFPPTAPKNVNLIEVSLSDLKPPEKADVPVEKYDGESDKEQFDDDQKVCCGFFFKDDQKAENDMAMKR AALLEKRLRREKETQLRKQQLEAEMEHKKEETRRKTEEERQKKEDERARREFIRQEYMRRKQLKLMEDMDTVIKPRPQVVKQKKQRPKSIHRDHIESPKTPIKGPPVSSLSLASLNTGDNESVHSGKR TPRSESVEGFLSPSRCGSRNGEKDWENASTTSSVASGTEYTGPKLYKEPSAKSNKHIIQNALAHCCLAGKVNEGQKKKILEEMEKSDANNFLILFRDSGCQFRSLYTYCPETEEINKLTGIGPKSITK KMIEGLYKYNSDRKQFSHIPAKTLSASVDAITIHSHLWQTKRPVTPKKLLPTKA hide sequence

RefSeq Acc Id:

XP_016856288 ⟸ XM_017000799

- Peptide Label:

isoform X1

- Sequence:

show sequence

MISPGPKSPAIWPGWWPKPLGQSAHLAMIDTLMMAYTVEMVSIEKVIACAQQYSAFFQATDLPY
DIEDAVMYWINKVNEHLKDIMEQEQKLKEHHTVEAPGGQKSPSKWFWKLVPARYRKEQTLLKQLPCIPLVENLLKDGTDGCALAALIHFYCPDVVRLEDICLKETMSLADSLYNLQLIQEFCQEYLNQ
CCHFTLEDMLYAASSIKSNYLVFMAELFWWFEVVKPSFVQPRVVRPQGAEPVKDMPSIPVLNAAKRNVLDSSSDFPSSGEGATFTQSHHHLPSRYSRPQAHSSASGGIRRSSSMSYVDGFIGTWPKEK
RSSVHGVSFDISFDKEDSVQRSTPNRGITRSISNEGLTLNNSHVSKHIRKNLSFKPINGEEEAESIEEELNIDSHSDLKSCVPLNTNELNSNENIHYKLPNGALQNRILLDEFGNQIETPSIEEALQI
IHDTEKSPHTPQPDQIANGFFLHSQEMSILNSNIKLNQSSPDNVTDTKGALSPITDNTEVDTGIHVPSEDIPETMDEDSSLRDYTVSLDSDMDDASKFLQDYDIRTGNTREALSPCPSTVSTKSQPGS
SASSSSGVKMTSFAEQKFRKLNHTDGKSSGSSSQKTTPEGSELNIPHVVAWAQIPEETGLPQGRDTTQLLASEMVHLRMKLEEKRRAIEAQKKKMEAAFTKQRQKMGRTAFLTVVKKKGDGISPLREE
AAGAEDEKVYTDRAKEKESQKTDGQRSKSLADIKESMENPQAKWLKSPTTPIDPEKQWNLASPSEETLNEGEILEYTKSIEKLNSSLHFLQQEMQRLSLQQEMLMQMREQQSWVISPPQPSPQKQIRD
FKPSKQAGLSSAIAPFSSDSPRPTHPSPQSSNRKSASFSVKSQRTPRPNELKITPLNRTLTPPRSVDSLPRLRRFSPSQVPIQTRSFVCFGDDGEPQLKESKPKEEVKKEELESKGTLEQRGHNPEEK
EIKPFESTVSEVLSLPVTETVCLTPNEDQLNQPTEPPPKPVFPPTAPKNVNLIEVSLSDLKPPEKADVPVEKYDGESDKEQFDDDQKVCCGFFFKDDQKAENDMAMKRAALLEKRLRREKETQLRKQQ
LEAEMEHKKEETRRKTEEERQKKEDERARREFIRQEYMRRKQLKLMEDMDTVIKPRPQVVKQKKQRPKSIHRDHIESPKTPIKGPPVSSLSLASLNTGDNESVHSGKRTPRSESVEGFLSPSRCGSRN
GEKDWENASTTSSVASGTEYTGPKLYKEPSAKSNKHIIQNALAHCCLAGKVNEGQKKKILEEMEKSDANNFLILFRDSGCQFRSLYTYCPETEEINKLTGIGPKSITKKMIEGLYKYNSDRKQFSHIP
AKTLSASVDAITIHSHLWQTKRPVTPKKLLPTKA

hide sequence

Ensembl Acc Id:

ENSP00000416800 ⟸ ENST00000413307

Protein Domains

Calmodulin-regulated spectrin-associated protein- Calponin-homology (CH) CKK

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q08AD1-F1-model_v2	AlphaFold	Q08AD1	1-1489	view protein structure

RGD ID:

6784850

Promoter ID:

HG_KWN:6732

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000367344, NM_203459, OTTHUMT00000087034, UC001GVL.1, UC001GVM.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	198,974,451 - 198,975,352 (+)	MPROMDB

RGD ID:

6858516

Promoter ID:

EPDNEW_H2423

Type:

initiation region

Name:

CAMSAP2_1

Description:

calmodulin regulated spectrin associated protein family member2

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	200,738,893 - 200,738,953	EPDNEW

Database	Acc Id	Source(s)
COSMIC	CAMSAP2	COSMIC
Ensembl Genes	ENSG00000118200	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000236925	ENTREZGENE
	ENST00000236925.9	UniProtKB/Swiss-Prot
	ENST00000358823	ENTREZGENE
	ENST00000358823.7	UniProtKB/Swiss-Prot
	ENST00000413307	ENTREZGENE
	ENST00000413307.6	UniProtKB/Swiss-Prot
Gene3D-CATH	3.10.20.360	UniProtKB/Swiss-Prot
GTEx	ENSG00000118200	GTEx
HGNC ID	HGNC:29188	ENTREZGENE
Human Proteome Map	CAMSAP2	Human Proteome Map
InterPro	CAMSAP	UniProtKB/Swiss-Prot
	CAMSAP_CC1	UniProtKB/Swiss-Prot
	CAMSAP_CH	UniProtKB/Swiss-Prot
	CH-domain	UniProtKB/Swiss-Prot
	CH_dom_sf	UniProtKB/Swiss-Prot
	CKK_dom_sf	UniProtKB/Swiss-Prot
	CKK_domain	UniProtKB/Swiss-Prot
	PRC_barrel-like_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:23271	UniProtKB/Swiss-Prot
NCBI Gene	23271	ENTREZGENE
OMIM	613775	OMIM
PANTHER	CALMODULIN-REGULATED SPECTRIN-ASSOCIATED PROTEIN 2	UniProtKB/Swiss-Prot
	PTHR21595	UniProtKB/Swiss-Prot
Pfam	CAMSAP_CC1	UniProtKB/Swiss-Prot
	CAMSAP_CH	UniProtKB/Swiss-Prot
	CAMSAP_CKK	UniProtKB/Swiss-Prot
PharmGKB	PA142672206	PharmGKB
PROSITE	CKK	UniProtKB/Swiss-Prot
	PS50021	UniProtKB/Swiss-Prot
SMART	CAMSAP_CKK	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF47576	UniProtKB/Swiss-Prot
	SSF50346	UniProtKB/Swiss-Prot
UniProt	B1APG6	ENTREZGENE
	B3KTI4	ENTREZGENE, UniProtKB/TrEMBL
	CAMP2_HUMAN	UniProtKB/Swiss-Prot
	H0Y4Z1_HUMAN	UniProtKB/TrEMBL
	H0YE13_HUMAN	UniProtKB/TrEMBL
	Q08AD1	ENTREZGENE
	Q08AD2	ENTREZGENE
	Q6PGN8	ENTREZGENE
	Q96FB3	ENTREZGENE
	Q9UG20	ENTREZGENE
	Q9UPS4	ENTREZGENE
UniProt Secondary	B1APG6	UniProtKB/Swiss-Prot
	Q08AD2	UniProtKB/Swiss-Prot
	Q6PGN8	UniProtKB/Swiss-Prot
	Q96FB3	UniProtKB/Swiss-Prot
	Q9UG20	UniProtKB/Swiss-Prot
	Q9UPS4	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	CAMSAP2	calmodulin regulated spectrin associated protein family member 2		calmodulin regulated spectrin-associated protein family, member 2	Symbol and/or name change	5135510	APPROVED
2011-09-01	CAMSAP2	calmodulin regulated spectrin-associated protein family, member 2	CAMSAP1L1	calmodulin regulated spectrin-associated protein 1-like 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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Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

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