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Gene: ZSCAN5A (zinc finger and SCAN domain containing 5A) Homo sapiens

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Symbol:

ZSCAN5A

Name:

zinc finger and SCAN domain containing 5A

RGD ID:

1347881

HGNC Page

HGNC:23710

Description:

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

MGC4161; zinc finger and SCAN domain containing 5; zinc finger and SCAN domain-containing protein 5A; zinc finger protein 495; ZNF495; ZSCAN5

RGD Orthologs

Bonobo

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

LOC100421368

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	19	56,221,303 - 56,368,278 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	56,219,670 - 56,368,383 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	56,732,672 - 56,879,647 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	61,424,491 - 61,431,471 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	61,424,492 - 61,431,471	NCBI
Celera	19	53,776,367 - 53,783,348 (-)	NCBI		Celera
Cytogenetic Map	19	q13.43	NCBI
HuRef	19	53,042,474 - 53,049,455 (-)	NCBI		HuRef
CHM1_1	19	56,726,250 - 56,733,230 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	59,320,082 - 59,462,670 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

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Model

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ZSCAN5A	Human	acrylamide	increases expression	EXP		6480464	Acrylamide results in increased expression of ZSCAN5A mRNA	CTD	PMID:32763439
ZSCAN5A	Human	aflatoxin B1	increases methylation	EXP		6480464	Aflatoxin B1 results in increased methylation of ZSCAN5A intron	CTD	PMID:30157460
ZSCAN5A	Human	Aflatoxin B2 alpha	increases methylation	EXP		6480464	aflatoxin B2 results in increased methylation of ZSCAN5A intron	CTD	PMID:30157460
ZSCAN5A	Human	all-trans-retinoic acid	decreases expression	EXP		6480464	Tretinoin results in decreased expression of ZSCAN5A mRNA	CTD	PMID:33167477
ZSCAN5A	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of ZSCAN5A 3' UTR and Benzo(a)pyrene affects the methylation of ZSCAN5A intron	CTD	PMID:27901495 and PMID:30157460
ZSCAN5A	Human	benzo[a]pyrene diol epoxide I	decreases expression	EXP		6480464	7 more ...	CTD	PMID:26238291
ZSCAN5A	Human	benzo[e]pyrene	increases methylation	EXP		6480464	benzo(e)pyrene results in increased methylation of ZSCAN5A intron	CTD	PMID:30157460
ZSCAN5A	Human	beta-lapachone	decreases expression	EXP		6480464	beta-lapachone results in decreased expression of ZSCAN5A mRNA	CTD	PMID:38218311
ZSCAN5A	Human	bisphenol A	increases expression	EXP		6480464	bisphenol A results in increased expression of ZSCAN5A mRNA	CTD	PMID:27685785
ZSCAN5A	Human	cadmium atom	multiple interactions	EXP		6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in increased expression of ZSCAN5A mRNA	CTD	PMID:35301059
ZSCAN5A	Human	cadmium dichloride	multiple interactions	EXP		6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in increased expression of ZSCAN5A mRNA	CTD	PMID:35301059
ZSCAN5A	Human	caffeine	decreases phosphorylation	EXP		6480464	Caffeine results in decreased phosphorylation of ZSCAN5A protein	CTD	PMID:35688186
ZSCAN5A	Human	carbamazepine	affects expression	EXP		6480464	Carbamazepine affects the expression of ZSCAN5A mRNA	CTD	PMID:25979313
ZSCAN5A	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to ZSCAN5A gene]	CTD	PMID:28238834
ZSCAN5A	Human	cisplatin	multiple interactions	EXP		6480464	[Cisplatin co-treated with jinfukang] results in decreased expression of ZSCAN5A mRNA	CTD	PMID:27392435
ZSCAN5A	Human	copper(II) sulfate	decreases expression	EXP		6480464	Copper Sulfate results in decreased expression of ZSCAN5A mRNA	CTD	PMID:19549813
ZSCAN5A	Human	cyclosporin A	decreases expression	EXP		6480464	Cyclosporine results in decreased expression of ZSCAN5A mRNA	CTD	PMID:25562108
ZSCAN5A	Human	formaldehyde	decreases expression	EXP		6480464	Formaldehyde results in decreased expression of ZSCAN5A mRNA	CTD	PMID:23649840
ZSCAN5A	Human	FR900359	increases phosphorylation	EXP		6480464	FR900359 results in increased phosphorylation of ZSCAN5A protein	CTD	PMID:37730182
ZSCAN5A	Human	geraniol	increases expression	EXP		6480464	geraniol results in increased expression of ZSCAN5A mRNA	CTD	PMID:27683099
ZSCAN5A	Human	hydrogen peroxide	affects expression	EXP		6480464	Hydrogen Peroxide affects the expression of ZSCAN5A mRNA	CTD	PMID:20044591
ZSCAN5A	Human	iron dichloride	decreases expression	EXP		6480464	ferrous chloride results in decreased expression of ZSCAN5A mRNA	CTD	PMID:35984750
ZSCAN5A	Human	methapyrilene	increases methylation	EXP		6480464	Methapyrilene results in increased methylation of ZSCAN5A intron	CTD	PMID:30157460
ZSCAN5A	Human	sunitinib	decreases expression	EXP		6480464	Sunitinib results in decreased expression of ZSCAN5A mRNA	CTD	PMID:31533062
ZSCAN5A	Human	testosterone	decreases expression	EXP		6480464	Testosterone results in decreased expression of ZSCAN5A mRNA	CTD	PMID:33359661
ZSCAN5A	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of ZSCAN5A mRNA	CTD	PMID:37042841
ZSCAN5A	Human	vorinostat	increases expression	EXP		6480464	vorinostat results in increased expression of ZSCAN5A mRNA	CTD	PMID:27188386
ZSCAN5A	Human	zinc atom	multiple interactions	EXP		6480464	[PCI 5002 co-treated with Zinc] results in increased expression of ZSCAN5A mRNA	CTD	PMID:18593933
ZSCAN5A	Human	zinc(0)	multiple interactions	EXP		6480464	[PCI 5002 co-treated with Zinc] results in increased expression of ZSCAN5A 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)
ZSCAN5A	Human	regulation of transcription by RNA polymerase II	involved_in	IBA	FB:FBgn0004618 more ...	150520179		GO_Central	GO_REF:0000033

Cellular Component

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ZSCAN5A	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
ZSCAN5A	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
ZSCAN5A	Human	nucleus	located_in	IEA	UniRule:UR000415288	150520179		UniProt	GO_REF:0000104

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)
ZSCAN5A	Human	DNA binding	enables	IEA	UniProtKB-KW:KW-0238	150520179		UniProt	GO_REF:0000043
ZSCAN5A	Human	DNA-binding transcription factor activity, RNA polymerase II-specific	enables	IBA	FB:FBgn0004618 more ...	150520179		GO_Central	GO_REF:0000033
ZSCAN5A	Human	metal ion binding	enables	IEA	UniProtKB-KW:KW-0479	150520179		UniProt	GO_REF:0000043
ZSCAN5A	Human	protein binding	enables	IPI	UniProtKB:A8MQ03 more ...	150520179	PMID:32296183	IntAct	PMID:32296183
ZSCAN5A	Human	RNA polymerase II cis-regulatory region sequence-specific DNA binding	enables	IBA	MGI:1338823 more ...	150520179		GO_Central	GO_REF:0000033
ZSCAN5A	Human	sequence-specific double-stranded DNA binding	enables	IDA		150520179	PMID:28473536	ARUK-UCL	PMID:28473536
ZSCAN5A	Human	zinc ion binding	enables	IEA	UniProtKB-KW:KW-0863	150520179		UniProt	GO_REF:0000043

#	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:8125298	PMID:12477932	PMID:15489334	PMID:16344560	PMID:21832049	PMID:21873635	PMID:26496610	PMID:27705803	PMID:27732952	PMID:28473536	PMID:28514442	PMID:30804502
PMID:32296183	PMID:32393512	PMID:32891193	PMID:33961781	PMID:36543142

ZSCAN5A
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	56,221,303 - 56,368,278 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	56,219,670 - 56,368,383 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	56,732,672 - 56,879,647 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	61,424,491 - 61,431,471 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	61,424,492 - 61,431,471	NCBI
Celera	19	53,776,367 - 53,783,348 (-)	NCBI		Celera
Cytogenetic Map	19	q13.43	NCBI
HuRef	19	53,042,474 - 53,049,455 (-)	NCBI		HuRef
CHM1_1	19	56,726,250 - 56,733,230 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	59,320,082 - 59,462,670 (-)	NCBI		T2T-CHM13v2.0

ZSCAN5A
(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	20	62,512,430 - 62,604,126 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	64,304,181 - 64,395,645 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	53,250,736 - 53,257,856 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	62,045,995 - 62,053,099 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	62,046,002 - 62,053,019 (-)	Ensembl	panpan1.1		panPan2

Variants in ZSCAN5A
65 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	copy number gain	See cases [RCV000050883]	Chr19:50191219..58535818 [GRCh38] Chr19:50694476..59047185 [GRCh37] Chr19:55386288..63738997 [NCBI36] Chr19:19q13.33-13.43	pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	copy number gain	See cases [RCV000052925]	Chr19:49907832..58557889 [GRCh38] Chr19:50411089..59069256 [GRCh37] Chr19:55102901..63761068 [NCBI36] Chr19:19q13.33-13.43	pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	copy number gain	See cases [RCV000052926]	Chr19:51141518..58539965 [GRCh38] Chr19:51644775..59051332 [GRCh37] Chr19:56336587..63743144 [NCBI36] Chr19:19q13.41-13.43	pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	copy number gain	See cases [RCV000052914]	Chr19:47908540..58539965 [GRCh38] Chr19:48411797..59051332 [GRCh37] Chr19:53103609..63743144 [NCBI36] Chr19:19q13.33-13.43	pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	copy number gain	See cases [RCV000052915]	Chr19:47929575..58572206 [GRCh38] Chr19:48432832..59083573 [GRCh37] Chr19:53124644..63775385 [NCBI36] Chr19:19q13.33-13.43	pathogenic
NM_024303.1(ZSCAN5A):c.1106C>T (p.Ser369Phe)	single nucleotide variant	Malignant melanoma [RCV000072393]	Chr19:56221960 [GRCh38] Chr19:56733329 [GRCh37] Chr19:61425141 [NCBI36] Chr19:19q13.43	not provided
NM_024303.1(ZSCAN5A):c.759G>A (p.Lys253=)	single nucleotide variant	Malignant melanoma [RCV000072394]	Chr19:56222307 [GRCh38] Chr19:56733676 [GRCh37] Chr19:61425488 [NCBI36] Chr19:19q13.43	not provided
NM_024303.1(ZSCAN5A):c.35G>A (p.Gly12Glu)	single nucleotide variant	Malignant melanoma [RCV000063650]	Chr19:56225012 [GRCh38] Chr19:56736381 [GRCh37] Chr19:61428193 [NCBI36] Chr19:19q13.43	not provided
GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	copy number gain	See cases [RCV000134174]	Chr19:52612432..58581203 [GRCh38] Chr19:53115685..59092570 [GRCh37] Chr19:57807497..63784382 [NCBI36] Chr19:19q13.41-13.43	pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	copy number gain	See cases [RCV000134139]	Chr19:52955056..58581203 [GRCh38] Chr19:53458309..59092570 [GRCh37] Chr19:58150121..63784382 [NCBI36] Chr19:19q13.41-13.43	pathogenic
GRCh38/hg38 19q13.42-13.43(chr19:55550939-57031576)x1	copy number loss	See cases [RCV000135287]	Chr19:55550939..57031576 [GRCh38] Chr19:56062305..57542944 [GRCh37] Chr19:60754117..62234756 [NCBI36] Chr19:19q13.42-13.43	likely pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	copy number gain	See cases [RCV000135843]	Chr19:50152520..58581203 [GRCh38] Chr19:50655777..59092570 [GRCh37] Chr19:55347589..63784382 [NCBI36] Chr19:19q13.33-13.43	pathogenic
GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	copy number gain	See cases [RCV000138139]	Chr19:55048514..56972458 [GRCh38] Chr19:55595687..57483826 [GRCh37] Chr19:60251694..62175638 [NCBI36] Chr19:19q13.42-13.43	likely pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	copy number gain	See cases [RCV000142008]	Chr19:52143873..58445521 [GRCh38] Chr19:52647126..58956888 [GRCh37] Chr19:57338938..63648700 [NCBI36] Chr19:19q13.41-13.43	pathogenic
GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	copy number gain	See cases [RCV000142245]	Chr19:55037146..56982033 [GRCh38] Chr19:55548514..57493401 [GRCh37] Chr19:60240326..62185213 [NCBI36] Chr19:19q13.42-13.43	uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:56200298-57654005)x1	copy number loss	Breast ductal adenocarcinoma [RCV000207313]	Chr19:56200298..57654005 [GRCh37] Chr19:19q13.42-13.43	uncertain significance
chr19:56133299..57648277 complex variant	complex	Breast ductal adenocarcinoma [RCV000207023]	Chr19:56133299..57648277 [GRCh37] Chr19:19q13.42-13.43	uncertain significance
GRCh38/hg38 19q13.43(chr19:56353449-58445521)x3	copy number gain	See cases [RCV000141900]	Chr19:56353449..58445521 [GRCh38] Chr19:56864818..58956888 [GRCh37] Chr19:61556630..63648700 [NCBI36] Chr19:19q13.43	uncertain significance
GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	copy number gain	See cases [RCV000052927]	Chr19:56363208..58581203 [GRCh38] Chr19:56874577..59092570 [GRCh37] Chr19:61566389..63784382 [NCBI36] Chr19:19q13.43	pathogenic
NM_001322064.3(ZSCAN5A):c.622G>A (p.Val208Ile)	single nucleotide variant	not specified [RCV004293605]	Chr19:56222708 [GRCh38] Chr19:56734077 [GRCh37] Chr19:19q13.43	uncertain significance
GRCh37/hg19 19q13.43(chr19:56463675-56918488)x3	copy number gain	not provided [RCV000488228]	Chr19:56463675..56918488 [GRCh37] Chr19:19q13.43	uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	copy number gain	See cases [RCV000445925]	Chr19:50489390..59095359 [GRCh37] Chr19:19q13.33-13.43	pathogenic
GRCh37/hg19 19q13.43(chr19:56573129-56736675)x3	copy number gain	See cases [RCV000445942]	Chr19:56573129..56736675 [GRCh37] Chr19:19q13.43	uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:54344821-58956888)x3	copy number gain	See cases [RCV000448186]	Chr19:54344821..58956888 [GRCh37] Chr19:19q13.42-13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	See cases [RCV000511289]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
NM_001322064.3(ZSCAN5A):c.856G>A (p.Gly286Arg)	single nucleotide variant	not specified [RCV004331990]	Chr19:56222210 [GRCh38] Chr19:56733579 [GRCh37] Chr19:19q13.43	uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:55549385-57489784)x3	copy number gain	See cases [RCV000510290]	Chr19:55549385..57489784 [GRCh37] Chr19:19q13.42-13.43	uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:56212463-57191708)x3	copy number gain	See cases [RCV000510179]	Chr19:56212463..57191708 [GRCh37] Chr19:19q13.42-13.43	uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:55844155-57408007)x3	copy number gain	See cases [RCV000511123]	Chr19:55844155..57408007 [GRCh37] Chr19:19q13.42-13.43	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NM_001322064.3(ZSCAN5A):c.518G>T (p.Arg173Leu)	single nucleotide variant	not specified [RCV004294649]	Chr19:56223701 [GRCh38] Chr19:56735070 [GRCh37] Chr19:19q13.43	uncertain significance
GRCh37/hg19 19q13.43(chr19:56706500-58956888)x3	copy number gain	See cases [RCV000512396]	Chr19:56706500..58956888 [GRCh37] Chr19:19q13.43	uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:55779884-56896574)x1	copy number loss	not provided [RCV000684089]	Chr19:55779884..56896574 [GRCh37] Chr19:19q13.42-13.43	uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	copy number gain	not provided [RCV000684095]	Chr19:54196216..58759679 [GRCh37] Chr19:19q13.42-13.43	pathogenic
GRCh37/hg19 19q13.43(chr19:56565455-57401997)x1	copy number loss	not provided [RCV000684087]	Chr19:56565455..57401997 [GRCh37] Chr19:19q13.43	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19q13.33-13.43(chr19:50740074-59097160)x3	copy number gain	not provided [RCV000740208]	Chr19:50740074..59097160 [GRCh37] Chr19:19q13.33-13.43	pathogenic
NM_001322064.3(ZSCAN5A):c.-127-3205G>C	single nucleotide variant	not provided [RCV000948010]	Chr19:56228378 [GRCh38] Chr19:56739747 [GRCh37] Chr19:19q13.43	benign
NM_001322064.3(ZSCAN5A):c.271C>G (p.Gln91Glu)	single nucleotide variant	not specified [RCV004283914]	Chr19:56224776 [GRCh38] Chr19:56736145 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.1034C>T (p.Pro345Leu)	single nucleotide variant	not specified [RCV004291725]	Chr19:56222032 [GRCh38] Chr19:56733401 [GRCh37] Chr19:19q13.43	uncertain significance
GRCh37/hg19 19q13.43(chr19:56375683-56985884)x3	copy number gain	not provided [RCV001007061]	Chr19:56375683..56985884 [GRCh37] Chr19:19q13.43	uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	copy number gain	not provided [RCV001259944]	Chr19:48463931..57095254 [GRCh37] Chr19:19q13.33-13.43	pathogenic
GRCh37/hg19 19q13.43(chr19:56358060-57007128)x3	copy number gain	not provided [RCV001259952]	Chr19:56358060..57007128 [GRCh37] Chr19:19q13.43	uncertain significance
GRCh37/hg19 19q13.43(chr19:56701425-56777707)x1	copy number loss	not provided [RCV001829150]	Chr19:56701425..56777707 [GRCh37] Chr19:19q13.43	uncertain significance
GRCh37/hg19 19q13.43(chr19:56332200-57126728)	copy number gain	not specified [RCV002052691]	Chr19:56332200..57126728 [GRCh37] Chr19:19q13.43	uncertain significance
GRCh37/hg19 19q13.43(chr19:56332374-56796637)x3	copy number gain	not provided [RCV002472859]	Chr19:56332374..56796637 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.886A>G (p.Ser296Gly)	single nucleotide variant	not specified [RCV004230932]	Chr19:56222180 [GRCh38] Chr19:56733549 [GRCh37] Chr19:19q13.43	likely benign
NM_001322064.3(ZSCAN5A):c.436G>C (p.Glu146Gln)	single nucleotide variant	not specified [RCV004224332]	Chr19:56223783 [GRCh38] Chr19:56735152 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.1015G>A (p.Ala339Thr)	single nucleotide variant	not specified [RCV004149399]	Chr19:56222051 [GRCh38] Chr19:56733420 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.113T>G (p.Val38Gly)	single nucleotide variant	not specified [RCV004206382]	Chr19:56224934 [GRCh38] Chr19:56736303 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.482T>C (p.Val161Ala)	single nucleotide variant	not specified [RCV004240493]	Chr19:56223737 [GRCh38] Chr19:56735106 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.371G>T (p.Arg124Ile)	single nucleotide variant	not specified [RCV004164753]	Chr19:56224676 [GRCh38] Chr19:56736045 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.1436G>A (p.Arg479Gln)	single nucleotide variant	not specified [RCV004125193]	Chr19:56221630 [GRCh38] Chr19:56732999 [GRCh37] Chr19:19q13.43	likely benign
NM_001322064.3(ZSCAN5A):c.928G>A (p.Glu310Lys)	single nucleotide variant	not specified [RCV004109015]	Chr19:56222138 [GRCh38] Chr19:56733507 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.469G>T (p.Asp157Tyr)	single nucleotide variant	not specified [RCV004194280]	Chr19:56223750 [GRCh38] Chr19:56735119 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.871G>A (p.Ala291Thr)	single nucleotide variant	not specified [RCV004142026]	Chr19:56222195 [GRCh38] Chr19:56733564 [GRCh37] Chr19:19q13.43	likely benign
NM_001322064.3(ZSCAN5A):c.118C>T (p.Pro40Ser)	single nucleotide variant	not specified [RCV004116293]	Chr19:56224929 [GRCh38] Chr19:56736298 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.439A>G (p.Met147Val)	single nucleotide variant	not specified [RCV004177571]	Chr19:56223780 [GRCh38] Chr19:56735149 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.628G>C (p.Gly210Arg)	single nucleotide variant	not specified [RCV004230237]	Chr19:56222702 [GRCh38] Chr19:56734071 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.974C>T (p.Pro325Leu)	single nucleotide variant	not specified [RCV004226791]	Chr19:56222092 [GRCh38] Chr19:56733461 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.932A>G (p.Glu311Gly)	single nucleotide variant	not specified [RCV004155970]	Chr19:56222134 [GRCh38] Chr19:56733503 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.51A>C (p.Arg17Ser)	single nucleotide variant	not specified [RCV004234062]	Chr19:56224996 [GRCh38] Chr19:56736365 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.1349C>G (p.Thr450Ser)	single nucleotide variant	not specified [RCV004104523]	Chr19:56221717 [GRCh38] Chr19:56733086 [GRCh37] Chr19:19q13.43	likely benign
NM_001322064.3(ZSCAN5A):c.1481C>T (p.Thr494Ile)	single nucleotide variant	not specified [RCV004103320]	Chr19:56221585 [GRCh38] Chr19:56732954 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.1045G>A (p.Glu349Lys)	single nucleotide variant	not specified [RCV004082998]	Chr19:56222021 [GRCh38] Chr19:56733390 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.458G>A (p.Ser153Asn)	single nucleotide variant	not specified [RCV004105089]	Chr19:56223761 [GRCh38] Chr19:56735130 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.1141G>A (p.Glu381Lys)	single nucleotide variant	not specified [RCV004173308]	Chr19:56221925 [GRCh38] Chr19:56733294 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.1175G>A (p.Arg392His)	single nucleotide variant	not specified [RCV004103219]	Chr19:56221891 [GRCh38] Chr19:56733260 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.890C>T (p.Pro297Leu)	single nucleotide variant	not specified [RCV004230933]	Chr19:56222176 [GRCh38] Chr19:56733545 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.641C>T (p.Ser214Phe)	single nucleotide variant	not specified [RCV004273884]	Chr19:56222689 [GRCh38] Chr19:56734058 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.650C>T (p.Pro217Leu)	single nucleotide variant	not specified [RCV004341876]	Chr19:56222680 [GRCh38] Chr19:56734049 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.823T>C (p.Cys275Arg)	single nucleotide variant	not specified [RCV004337153]	Chr19:56222243 [GRCh38] Chr19:56733612 [GRCh37] Chr19:19q13.43	uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	copy number gain	not provided [RCV003485200]	Chr19:49625130..57647352 [GRCh37] Chr19:19q13.33-13.43	likely pathogenic
GRCh37/hg19 19q13.42-13.43(chr19:56080158-57672397)x1	copy number loss	not specified [RCV003986104]	Chr19:56080158..57672397 [GRCh37] Chr19:19q13.42-13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.1246G>A (p.Val416Ile)	single nucleotide variant	not specified [RCV004487818]	Chr19:56221820 [GRCh38] Chr19:56733189 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.167C>T (p.Ser56Leu)	single nucleotide variant	not specified [RCV004487819]	Chr19:56224880 [GRCh38] Chr19:56736249 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.31C>G (p.Leu11Val)	single nucleotide variant	not specified [RCV004487820]	Chr19:56225016 [GRCh38] Chr19:56736385 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.737C>T (p.Pro246Leu)	single nucleotide variant	not specified [RCV004487824]	Chr19:56222593 [GRCh38] Chr19:56733962 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.639G>C (p.Lys213Asn)	single nucleotide variant	not specified [RCV004487822]	Chr19:56222691 [GRCh38] Chr19:56734060 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.958G>A (p.Gly320Ser)	single nucleotide variant	not specified [RCV004487826]	Chr19:56222108 [GRCh38] Chr19:56733477 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.85T>G (p.Ser29Ala)	single nucleotide variant	not specified [RCV004487825]	Chr19:56224962 [GRCh38] Chr19:56736331 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.644T>C (p.Leu215Pro)	single nucleotide variant	not specified [RCV004487823]	Chr19:56222686 [GRCh38] Chr19:56734055 [GRCh37] Chr19:19q13.43	likely benign
NM_001322064.3(ZSCAN5A):c.286A>G (p.Met96Val)	single nucleotide variant	not specified [RCV004603878]	Chr19:56224761 [GRCh38] Chr19:56736130 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.109G>C (p.Asp37His)	single nucleotide variant	not specified [RCV004603880]	Chr19:56224938 [GRCh38] Chr19:56736307 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.782T>G (p.Ile261Arg)	single nucleotide variant	not specified [RCV004603882]	Chr19:56222284 [GRCh38] Chr19:56733653 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.430G>A (p.Asp144Asn)	single nucleotide variant	not specified [RCV004603883]	Chr19:56223789 [GRCh38] Chr19:56735158 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.773C>T (p.Pro258Leu)	single nucleotide variant	not specified [RCV004603881]	Chr19:56222293 [GRCh38] Chr19:56733662 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.371G>C (p.Arg124Thr)	single nucleotide variant	not specified [RCV004603879]	Chr19:56224676 [GRCh38] Chr19:56736045 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.158C>T (p.Pro53Leu)	single nucleotide variant	not specified [RCV004894244]	Chr19:56224889 [GRCh38] Chr19:56736258 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.284C>T (p.Ser95Phe)	single nucleotide variant	not specified [RCV004894245]	Chr19:56224763 [GRCh38] Chr19:56736132 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.70C>T (p.Arg24Trp)	single nucleotide variant	not specified [RCV004894246]	Chr19:56224977 [GRCh38] Chr19:56736346 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.776C>A (p.Pro259Gln)	single nucleotide variant	not specified [RCV004894250]	Chr19:56222290 [GRCh38] Chr19:56733659 [GRCh37] Chr19:19q13.43	likely benign
NM_001322064.3(ZSCAN5A):c.769G>T (p.Asp257Tyr)	single nucleotide variant	not specified [RCV004894251]	Chr19:56222297 [GRCh38] Chr19:56733666 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.1423A>G (p.Arg475Gly)	single nucleotide variant	not specified [RCV004894252]	Chr19:56221643 [GRCh38] Chr19:56733012 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.609C>G (p.His203Gln)	single nucleotide variant	not specified [RCV004894253]	Chr19:56222721 [GRCh38] Chr19:56734090 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.622G>C (p.Val208Leu)	single nucleotide variant	not specified [RCV004894254]	Chr19:56222708 [GRCh38] Chr19:56734077 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.751A>G (p.Arg251Gly)	single nucleotide variant	not specified [RCV004894255]	Chr19:56222315 [GRCh38] Chr19:56733684 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.487A>G (p.Ser163Gly)	single nucleotide variant	not specified [RCV004894247]	Chr19:56223732 [GRCh38] Chr19:56735101 [GRCh37] Chr19:19q13.43	uncertain significance
NM_001322064.3(ZSCAN5A):c.160A>G (p.Lys54Glu)	single nucleotide variant	not specified [RCV004894248]	Chr19:56224887 [GRCh38] Chr19:56736256 [GRCh37] Chr19:19q13.43	likely benign
NM_001322064.3(ZSCAN5A):c.625A>G (p.Thr209Ala)	single nucleotide variant	not specified [RCV004894249]	Chr19:56222705 [GRCh38] Chr19:56734074 [GRCh37] Chr19:19q13.43	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	2907
Count of miRNA genes:	987
Interacting mature miRNAs:	1203
Transcripts:	ENST00000254165, ENST00000391713, ENST00000585670, ENST00000586031, ENST00000587075, ENST00000587340, ENST00000587492, ENST00000587614, ENST00000588442, ENST00000588955, ENST00000589279, ENST00000590675, ENST00000591078, ENST00000592101, ENST00000592355, ENST00000592509, ENST00000592679, ENST00000593106
Prediction methods:	Miranda, Rnahybrid
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
1559110	SCL22_H	Serum cholesterol level QTL 22 (human)	3.59	0.000241	Lipid level	LDL cholesterol	19	31907594	57907594	Human
597091188	GWAS1187262_H	monocyte count QTL GWAS1187262 (human)		1e-12	monocyte quantity (VT:0000223)	blood monocyte count (CMO:0000032)	19	56222056	56222057	Human
597435320	GWAS1531394_H	pancreatic carcinoma QTL GWAS1531394 (human)		3e-08	pancreatic carcinoma		19	56301984	56301985	Human
597362735	GWAS1458809_H	hip bone mineral density QTL GWAS1458809 (human)		0.000006	hip bone mineral density	bone mineral density (CMO:0001226)	19	56339799	56339800	Human
597088963	GWAS1185037_H	monocyte percentage of leukocytes QTL GWAS1185037 (human)		6e-12	monocyte quantity (VT:0000223)	blood monocyte count to total leukocyte count ratio (CMO:0000374)	19	56225175	56225177	Human
597304717	GWAS1400791_H	monocyte count QTL GWAS1400791 (human)		1e-11	monocyte quantity (VT:0000223)	blood monocyte count (CMO:0000032)	19	56222056	56222057	Human
597083183	GWAS1179257_H	monocyte count QTL GWAS1179257 (human)		1e-15	monocyte quantity (VT:0000223)	blood monocyte count (CMO:0000032)	19	56222056	56222057	Human
596983932	GWAS1103451_H	telomere length QTL GWAS1103451 (human)		3e-14	telomere length		19	56222056	56222057	Human
597098844	GWAS1194918_H	monocyte count QTL GWAS1194918 (human)		7e-18	monocyte quantity (VT:0000223)	blood monocyte count (CMO:0000032)	19	56222056	56222057	Human
1331657	COPD9_H	Chronic obstructive pulmonary disease QTL 9 (human)	1.94		Chronic airflow obstruction	post-bronchodilator FEV1	19	31021760	57021760	Human

WI-11903

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	56,732,695 - 56,732,821	UniSTS	GRCh37
Build 36	19	61,424,507 - 61,424,633	RGD	NCBI36
Celera	19	53,776,383 - 53,776,509	RGD
Cytogenetic Map	19	q13.43	UniSTS
HuRef	19	53,042,490 - 53,042,616	UniSTS
GeneMap99-GB4 RH Map	19	283.91	UniSTS
Whitehead-RH Map	19	375.0	UniSTS

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

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
1204	2432	2788	2245	4940	1723	2345	4	622	1948	464	2266	7281	6454	52	3708	847	1730	1612	170


RefSeq Transcripts	NM_001322061	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001322062	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001322064	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001322065	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001322066	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001322067	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001322068	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001322070	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001322072	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001322073	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001322074	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001322075	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001322076	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001322077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001322078	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001387853	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001387854	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001387855	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001387856	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001387857	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001387858	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001387859	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_024303	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC006116	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC011506	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI699820	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK098700	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK223485	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK301873	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK310500	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC002636	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC043232	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI916125	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471135	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB028988	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF456616	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT585058	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000391713 ⟹ ENSP00000375593

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	56,219,670 - 56,228,290 (-)	Ensembl

Ensembl Acc Id:

ENST00000585670

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	56,280,602 - 56,314,793 (-)	Ensembl

Ensembl Acc Id:

ENST00000586031

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	56,266,218 - 56,266,761 (-)	Ensembl

Ensembl Acc Id:

ENST00000587075

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	56,283,345 - 56,313,380 (-)	Ensembl

Ensembl Acc Id:

ENST00000587340 ⟹ ENSP00000467631

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	56,221,312 - 56,368,383 (-)	Ensembl

Ensembl Acc Id:

ENST00000587492 ⟹ ENSP00000466445

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	56,221,487 - 56,314,925 (-)	Ensembl

Ensembl Acc Id:

ENST00000587614

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	56,296,068 - 56,314,839 (-)	Ensembl

Ensembl Acc Id:

ENST00000588442 ⟹ ENSP00000468675

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	56,224,920 - 56,314,839 (-)	Ensembl

Ensembl Acc Id:

ENST00000588955 ⟹ ENSP00000468008

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	56,224,793 - 56,314,513 (-)	Ensembl

Ensembl Acc Id:

ENST00000589279

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	56,274,539 - 56,314,833 (-)	Ensembl

Ensembl Acc Id:

ENST00000590675

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	56,263,218 - 56,313,387 (-)	Ensembl

Ensembl Acc Id:

ENST00000591078

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	56,274,504 - 56,314,859 (-)	Ensembl

Ensembl Acc Id:

ENST00000592101

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	56,224,322 - 56,225,429 (-)	Ensembl

Ensembl Acc Id:

ENST00000592355 ⟹ ENSP00000467238

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	56,221,312 - 56,228,311 (-)	Ensembl

Ensembl Acc Id:

ENST00000592509 ⟹ ENSP00000468797

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	56,224,731 - 56,314,788 (-)	Ensembl

Ensembl Acc Id:

ENST00000592679 ⟹ ENSP00000466830

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	56,224,932 - 56,314,828 (-)	Ensembl

Ensembl Acc Id:

ENST00000593106 ⟹ ENSP00000464936

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	56,222,058 - 56,314,842 (-)	Ensembl

Ensembl Acc Id:

ENST00000683990 ⟹ ENSP00000507065

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	56,221,303 - 56,314,839 (-)	Ensembl

RefSeq Acc Id:

NM_001322061 ⟹ NP_001308990

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	56,221,303 - 56,314,839 (-)	NCBI
CHM1_1	19	56,726,243 - 56,818,762 (-)	NCBI
T2T-CHM13v2.0	19	59,320,082 - 59,412,560 (-)	NCBI

Sequence:

show sequence

AATGTGAATGCGACAAGTTCCCGATCCAGGCGTCCCGCTCTCCCCGGCCCCACTCGCCAGGTCCTACCACGATGCCTGACTCGTTTGCGGCTTTGGGACCGGTTGTAGGTGGCTTGACCGTCACTAGT
AGACGTTTCTGAGTGTGTCGCGGTCACCATGGGGAGGTTCCCTGCTCAAGCTCTCTTCTCTTGTCTGCTGCCATGTGAGACGTGCCTTTGACCTTCTGCCATGATTGTGAGGCCTCCCCAGCCACGTG
AAACTTGGGAACCATAATCAACGCCGATTACGTAAAATGGACTCTATGGCCCTAAACCAATCACGGGGCGGCGCAGGGAACCGGAAACGCGGCCTGGAGTCCCGCTTCTCCATAAATAGACGCAGTTC
AGCTCCAGGCCGGTTGGAGAGCGCATCCCAGACCGAGAAGGTCGGAGGCAGAAGCCGGGAAGGAGATATGGCTGCAAATTGCACATCCTCATGGAGTCTAGGAGAATCCTGCAACAGACCTGGGTTGG
AGCTGCCACGGTCTATGGCATCCTCAGAAACTCAACTTGGAAATCACGACGTGGACCCTGAGATTTCTCACGTGAACTTCAGGATGTTCAGCTGCCCGAAGGAGTCGGACCCCATCCAGGCTCTGAGG
AAACTCACTGAGCTGTGCCATCTGTGGCTGAGGCCCGACCTCCACACCAAAGAGCAGATCCTGGACATGCTGGTGATGGAGCAGTTCATGATCTCCATGCCCCAGGAGCTCCAGGTCTTAGTCATGAT
GAACGGTGTGCAGAGCTGCAAAGACCTGGAGGACCTGCTACGAAATAACAGAAGACCCAAGAAATGGTCTGTGGTCACCTTCCACGGAAAGGAATATATTGTGCAGGACTCAGATATCGAGATGGCTG
AAGCCCCCTCCAGTGTCAGAGATGATCTGAAAGACGTGTCCAGCCAACGGGCCTCCTCGGTGAACCAGATGCGTCCAGGGGAAGGCCAGGCCCACCGAGAGCTGCAGATCCTGCCCAGGGTCCCTGCA
TTGTCCAGGAGGCAGGGAGAGGACTTTCTGCTACACAAGAGTATTGACGTAACAGGTGACCCAAAGTCTCTGAGACCCAAGCAGACCTTGGAGAAGGATCTGAAGGAAAACAGGGAAGAGAACCCAGG
ACTGACATCCCCAGAGCCTCAGCTTCCAAAGAGTCCCAATCTGGTGAGAGCAAAGGAGGGGAAGGACCCCCCAAAAATAGCCTCTGTGGAAAATGTGGATGCTGACACACCTTCTGCCTGCGTTGTGG
AGAGAGAAGCTTCGACTCACAGCGGGAACAGAGGAGACGCTCTGAATCTGAGCAGTCCCAAAAGAAGCAAACCAGATGCCTCCTCCATTTCCCAAGAAGAGCCTCAAGGAGAAGCCACACCTGTGGGC
AACAGAGAATCCCCGGGACAAGCTGGGATGAATTCAATTCATTCCCCAGGCCCTGCGAGCCCAGTCAGTCACCCGGATGGCCAAGAAGCCAAGGCACTGCCGCCCTTTGCATGTGACGTGTGCGAGAA
GAGGTTTACGTGTAATTCCAAGCTAGTCATCCACAAGAGATCACACACAGGCGAGAGACTCTTTCAATGTAATCTCTGTGGGAAGCGCTTCATGCAGCTTATTAGCCTCCAATTTCACCAGCGAACCC
ACACTGGCGAGAGGCCCTACACGTGTGACGTCTGCCAGAAGCAGTTCACCCAGAAGTCCTACTTGAAGTGTCACAAGAGAAGCCACACAGGGGAGAAGCCCTTCGAATGTAAAGACTGCAAGAAAGTT
TTCACCTACAGGGGGAGCCTGAAGGAGCACCAGCGCATCCACTCCGGAGAGAAACCCTACAAATGTTCCAAGTGTCCAAGAGCCTTCAGTCGGCTGAAATTGTTAAGACGCCACCAGAAAACACATCC
AGAAGCTACTTCTCAGTGATTGCATAATCCGGTCTATGCCTTCTGCACCAAGAAGAAGTGAATGATATTTTTCATCAATGTTATCAGATGACATTTGACACATGCAAGGGCGTCTGACACACAGAGGG
AGTGCCCTAGATATGAATTGCCAGGATGTTTGAGTAAATATGTGTCCTCCCCACTGAGCTTTGTTTTCTGTTTCATTATGTCCATTGTTTTCTTATAGGTTTATTTTGGTTTGTGTTGCTGTTCTTCC
AATAAACGATCATCTTATTAGTTTTCAATATTGTA

hide sequence

RefSeq Acc Id:

NM_001322062 ⟹ NP_001308991

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	56,221,303 - 56,230,401 (-)	NCBI
CHM1_1	19	56,726,243 - 56,735,339 (-)	NCBI
T2T-CHM13v2.0	19	59,320,082 - 59,329,180 (-)	NCBI

Sequence:

show sequence

TTAATAATAATATGTTGGGGCCGGGTATGGTGGCTCATGCCTGTAATCCCGGCACTTTGGGAGG
CCGAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGGCAAGATGTGGGAACCATAATCAACGCCGATTACGTAAAATGGACTCTATGGCCCTAAACCAATCACGGGGCGGCGCAGGGAA
CCGGAAACGCGGCCTGGAGTCCCGCTTCTCCATAAATAGACGCAGTTCAGCTCCAGGCCGGTTGGAGAGCGCATCCCAGACCGAGAAGGTCGGAGGCAGAAGCCGGGAAGGAGATATGGCTGCAAATT
GCACATCCTCATGGAGTCTAGGAGAATCCTGCAACAGACCTGGGTTGGAGCTGCCACGGTCTATGGCATCCTCAGAAACTCAACTTGGAAATCACGACGTGGACCCTGAGATTTCTCACGTGAACTTC
AGGATGTTCAGCTGCCCGAAGGAGTCGGACCCCATCCAGGCTCTGAGGAAACTCACTGAGCTGTGCCATCTGTGGCTGAGGCCCGACCTCCACACCAAAGAGCAGATCCTGGACATGCTGGTGATGGA
GCAGTTCATGATCTCCATGCCCCAGGAGCTCCAGGTCTTAGTCATGATGAACGGTGTGCAGAGCTGCAAAGACCTGGAGGACCTGCTACGAAATAACAGAAGACCCAAGAAATGGTCTGTGGTCACCT
TCCACGGAAAGGAATATATTGTGCAGGACTCAGATATCGAGATGGCTGAAGCCCCCTCCAGTGTCAGAGATGATCTGAAAGACGTGTCCAGCCAACGGGCCTCCTCGGTGAACCAGATGCGTCCAGGG
GAAGGCCAGGCCCACCGAGAGCTGCAGATCCTGCCCAGGGTCCCTGCATTGTCCAGGAGGCAGGGAGAGGACTTTCTGCTACACAAGAGTATTGACGTAACAGGTGACCCAAAGTCTCTGAGACCCAA
GCAGACCTTGGAGAAGGATCTGAAGGAAAACAGGGAAGAGAACCCAGGACTGACATCCCCAGAGCCTCAGCTTCCAAAGAGTCCCAATCTGGTGAGAGCAAAGGAGGGGAAGGACCCCCCAAAAATAG
CCTCTGTGGAAAATGTGGATGCTGACACACCTTCTGCCTGCGTTGTGGAGAGAGAAGCTTCGACTCACAGCGGGAACAGAGGAGACGCTCTGAATCTGAGCAGTCCCAAAAGAAGCAAACCAGATGCC
TCCTCCATTTCCCAAGAAGAGCCTCAAGGAGAAGCCACACCTGTGGGCAACAGAGAATCCCCGGGACAAGCTGGGATGAATTCAATTCATTCCCCAGGCCCTGCGAGCCCAGTCAGTCACCCGGATGG
CCAAGAAGCCAAGGCACTGCCGCCCTTTGCATGTGACGTGTGCGAGAAGAGGTTTACGTGTAATTCCAAGCTAGTCATCCACAAGAGATCACACACAGGCGAGAGACTCTTTCAATGTAATCTCTGTG
GGAAGCGCTTCATGCAGCTTATTAGCCTCCAATTTCACCAGCGAACCCACACTGGCGAGAGGCCCTACACGTGTGACGTCTGCCAGAAGCAGTTCACCCAGAAGTCCTACTTGAAGTGTCACAAGAGA
AGCCACACAGGGGAGAAGCCCTTCGAATGTAAAGACTGCAAGAAAGTTTTCACCTACAGGGGGAGCCTGAAGGAGCACCAGCGCATCCACTCCGGAGAGAAACCCTACAAATGTTCCAAGTGTCCAAG
AGCCTTCAGTCGGCTGAAATTGTTAAGACGCCACCAGAAAACACATCCAGAAGCTACTTCTCAGTGATTGCATAATCCGGTCTATGCCTTCTGCACCAAGAAGAAGTGAATGATATTTTTCATCAATG
TTATCAGATGACATTTGACACATGCAAGGGCGTCTGACACACAGAGGGAGTGCCCTAGATATGAATTGCCAGGATGTTTGAGTAAATATGTGTCCTCCCCACTGAGCTTTGTTTTCTGTTTCATTATG
TCCATTGTTTTCTTATAGGTTTATTTTGGTTTGTGTTGCTGTTCTTCCAATAAACGATCATCTTATTAGTTTTCAATATTGTA

hide sequence

RefSeq Acc Id:

NM_001322064 ⟹ NP_001308993

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	56,221,303 - 56,314,839 (-)	NCBI
CHM1_1	19	56,726,243 - 56,818,762 (-)	NCBI
T2T-CHM13v2.0	19	59,320,082 - 59,412,560 (-)	NCBI

Sequence:

show sequence

AATGTGAATGCGACAAGTTCCCGATCCAGGCGTCCCGCTCTCCCCGGCCCCACTCGCCAGGTCCTACCACGATGCCTGACTCGTTTGCGGCTTTGGGACCGGTTGTAGGTGGCTTGACCGTCACTAGT
AGACGTTTCTGAGTGTGTCGCGGTCACCATGGGGAGGTTCCCTGCTCAAGCTCTCTTCTCTTGTCTGCTGCCATGTGAGACGTGCCTTTGACCTTCTGCCATGATTGTGAGGCCTCCCCAGCCACGTG
AAACTACTTCTGAATGAACAGTGAATCTATTACTGAGGAAAACCAGAGGAAGCCTGTGTAGATAGGTATCAATTAGATACCAGCTACTGGAAGAGCTTTCTCAGAGACTGATTAAAAAATTCTCCACT
AGATATGGCTGCAAATTGCACATCCTCATGGAGTCTAGGAGAATCCTGCAACAGACCTGGGTTGGAGCTGCCACGGTCTATGGCATCCTCAGAAACTCAACTTGGAAATCACGACGTGGACCCTGAGA
TTTCTCACGTGAACTTCAGGATGTTCAGCTGCCCGAAGGAGTCGGACCCCATCCAGGCTCTGAGGAAACTCACTGAGCTGTGCCATCTGTGGCTGAGGCCCGACCTCCACACCAAAGAGCAGATCCTG
GACATGCTGGTGATGGAGCAGTTCATGATCTCCATGCCCCAGGAGCTCCAGGTCTTAGTCATGATGAACGGTGTGCAGAGCTGCAAAGACCTGGAGGACCTGCTACGAAATAACAGAAGACCCAAGAA
ATGGTCTGTGGTCACCTTCCACGGAAAGGAATATATTGTGCAGGACTCAGATATCGAGATGGCTGAAGCCCCCTCCAGTGTCAGAGATGATCTGAAAGACGTGTCCAGCCAACGGGCCTCCTCGGTGA
ACCAGATGCGTCCAGGGGAAGGCCAGGCCCACCGAGAGCTGCAGATCCTGCCCAGGGTCCCTGCATTGTCCAGGAGGCAGGGAGAGGACTTTCTGCTACACAAGAGTATTGACGTAACAGGTGACCCA
AAGTCTCTGAGACCCAAGCAGACCTTGGAGAAGGATCTGAAGGAAAACAGGGAAGAGAACCCAGGACTGACATCCCCAGAGCCTCAGCTTCCAAAGAGTCCCACAGATCTGGTGAGAGCAAAGGAGGG
GAAGGACCCCCCAAAAATAGCCTCTGTGGAAAATGTGGATGCTGACACACCTTCTGCCTGCGTTGTGGAGAGAGAAGCTTCGACTCACAGCGGGAACAGAGGAGACGCTCTGAATCTGAGCAGTCCCA
AAAGAAGCAAACCAGATGCCTCCTCCATTTCCCAAGAAGAGCCTCAAGGAGAAGCCACACCTGTGGGCAACAGAGAATCCCCGGGACAAGCTGGGATGAATTCAATTCATTCCCCAGGCCCTGCGAGC
CCAGTCAGTCACCCGGATGGCCAAGAAGCCAAGGCACTGCCGCCCTTTGCATGTGACGTGTGCGAGAAGAGGTTTACGTGTAATTCCAAGCTAGTCATCCACAAGAGATCACACACAGGCGAGAGACT
CTTTCAATGTAATCTCTGTGGGAAGCGCTTCATGCAGCTTATTAGCCTCCAATTTCACCAGCGAACCCACACTGGCGAGAGGCCCTACACGTGTGACGTCTGCCAGAAGCAGTTCACCCAGAAGTCCT
ACTTGAAGTGTCACAAGAGAAGCCACACAGGGGAGAAGCCCTTCGAATGTAAAGACTGCAAGAAAGTTTTCACCTACAGGGGGAGCCTGAAGGAGCACCAGCGCATCCACTCCGGAGAGAAACCCTAC
AAATGTTCCAAGTGTCCAAGAGCCTTCAGTCGGCTGAAATTGTTAAGACGCCACCAGAAAACACATCCAGAAGCTACTTCTCAGTGATTGCATAATCCGGTCTATGCCTTCTGCACCAAGAAGAAGTG
AATGATATTTTTCATCAATGTTATCAGATGACATTTGACACATGCAAGGGCGTCTGACACACAGAGGGAGTGCCCTAGATATGAATTGCCAGGATGTTTGAGTAAATATGTGTCCTCCCCACTGAGCT
TTGTTTTCTGTTTCATTATGTCCATTGTTTTCTTATAGGTTTATTTTGGTTTGTGTTGCTGTTCTTCCAATAAACGATCATCTTATTAGTTTTCAATATTGTA

hide sequence

RefSeq Acc Id:

NM_001322065 ⟹ NP_001308994

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	56,221,303 - 56,314,839 (-)	NCBI
CHM1_1	19	56,726,243 - 56,818,762 (-)	NCBI
T2T-CHM13v2.0	19	59,320,082 - 59,412,560 (-)	NCBI

Sequence:

show sequence

AATGTGAATGCGACAAGTTCCCGATCCAGGCGTCCCGCTCTCCCCGGCCCCACTCGCCAGGTCCTACCACGATGCCTGACTCGTTTGCGGCTTTGGGACCGGTTGTAGGTGGCTTGACCGTCACTAGT
AGACGTTTCTGAGTGTGTCGCGGTCACCATGGGGAGGTTCCCTGCTCAAGCTCTCTTCTCTTGTCTGCTGCCATGTGAGACGTGCCTTTGACCTTCTGCCATGATTGTGAGGCCTCCCCAGCCACGTG
AAACTATATGGCTGCAAATTGCACATCCTCATGGAGTCTAGGAGAATCCTGCAACAGACCTGGGTTGGAGCTGCCACGGTCTATGGCATCCTCAGAAACTCAACTTGGAAATCACGACGTGGACCCTG
AGATTTCTCACGTGAACTTCAGGATGTTCAGCTGCCCGAAGGAGTCGGACCCCATCCAGGCTCTGAGGAAACTCACTGAGCTGTGCCATCTGTGGCTGAGGCCCGACCTCCACACCAAAGAGCAGATC
CTGGACATGCTGGTGATGGAGCAGTTCATGATCTCCATGCCCCAGGAGCTCCAGGTCTTAGTCATGATGAACGGTGTGCAGAGCTGCAAAGACCTGGAGGACCTGCTACGAAATAACAGAAGACCCAA
GAAATGGTCTGTGGTCACCTTCCACGGAAAGGAATATATTGTGCAGGACTCAGATATCGAGATGGCTGAAGCCCCCTCCAGTGTCAGAGATGATCTGAAAGACGTGTCCAGCCAACGGGCCTCCTCGG
TGAACCAGATGCGTCCAGGGGAAGGCCAGGCCCACCGAGAGCTGCAGATCCTGCCCAGGGTCCCTGCATTGTCCAGGAGGCAGGGAGAGGACTTTCTGCTACACAAGAGTATTGACGTAACAGGTGAC
CCAAAGTCTCTGAGACCCAAGCAGACCTTGGAGAAGGATCTGAAGGAAAACAGGGAAGAGAACCCAGGACTGACATCCCCAGAGCCTCAGCTTCCAAAGAGTCCCACAGATCTGGTGAGAGCAAAGGA
GGGGAAGGACCCCCCAAAAATAGCCTCTGTGGAAAATGTGGATGCTGACACACCTTCTGCCTGCGTTGTGGAGAGAGAAGCTTCGACTCACAGCGGGAACAGAGGAGACGCTCTGAATCTGAGCAGTC
CCAAAAGAAGCAAACCAGATGCCTCCTCCATTTCCCAAGAAGAGCCTCAAGGAGAAGCCACACCTGTGGGCAACAGAGAATCCCCGGGACAAGCTGGGATGAATTCAATTCATTCCCCAGGCCCTGCG
AGCCCAGTCAGTCACCCGGATGGCCAAGAAGCCAAGGCACTGCCGCCCTTTGCATGTGACGTGTGCGAGAAGAGGTTTACGTGTAATTCCAAGCTAGTCATCCACAAGAGATCACACACAGGCGAGAG
ACTCTTTCAATGTAATCTCTGTGGGAAGCGCTTCATGCAGCTTATTAGCCTCCAATTTCACCAGCGAACCCACACTGGCGAGAGGCCCTACACGTGTGACGTCTGCCAGAAGCAGTTCACCCAGAAGT
CCTACTTGAAGTGTCACAAGAGAAGCCACACAGGGGAGAAGCCCTTCGAATGTAAAGACTGCAAGAAAGTTTTCACCTACAGGGGGAGCCTGAAGGAGCACCAGCGCATCCACTCCGGAGAGAAACCC
TACAAATGTTCCAAGTGTCCAAGAGCCTTCAGTCGGCTGAAATTGTTAAGACGCCACCAGAAAACACATCCAGAAGCTACTTCTCAGTGATTGCATAATCCGGTCTATGCCTTCTGCACCAAGAAGAA
GTGAATGATATTTTTCATCAATGTTATCAGATGACATTTGACACATGCAAGGGCGTCTGACACACAGAGGGAGTGCCCTAGATATGAATTGCCAGGATGTTTGAGTAAATATGTGTCCTCCCCACTGA
GCTTTGTTTTCTGTTTCATTATGTCCATTGTTTTCTTATAGGTTTATTTTGGTTTGTGTTGCTGTTCTTCCAATAAACGATCATCTTATTAGTTTTCAATATTGTA

hide sequence

RefSeq Acc Id:

NM_001322066 ⟹ NP_001308995

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	56,221,303 - 56,314,345 (-)	NCBI
CHM1_1	19	56,726,243 - 56,818,401 (-)	NCBI
T2T-CHM13v2.0	19	59,320,082 - 59,412,066 (-)	NCBI

Sequence:

show sequence

AGACTTCCTTTCACGCCTGTCGCCAGGTTAACTAGGTCACTGTTTGCTCTCAGGAGCAACCCTGCCTCCCGCAGTTCGCTTGGTCCTTGATTACAGGGGAGGTTCCCTGCTCAAGCTCTCTTCTCTTG
TCTGCTGCCATGTGAGACGTGCCTTTGACCTTCTGCCATGATTGTGAGGCCTCCCCAGCCACGTGAAACTACTTCTGAATGAACAGTGAATCTATTACTGAGGAAAACCAGAGGAAGCCTGTGTAGAT
AGGTATCAATTAGATACCAGCTACTGGAAGAGCTTTCTCAGAGACTGATTAAAAAATTCTCCACTAGATATGGCTGCAAATTGCACATCCTCATGGAGTCTAGGAGAATCCTGCAACAGACCTGGGTT
GGAGCTGCCACGGTCTATGGCATCCTCAGAAACTCAACTTGGAAATCACGACGTGGACCCTGAGATTTCTCACGTGAACTTCAGGATGTTCAGCTGCCCGAAGGAGTCGGACCCCATCCAGGCTCTGA
GGAAACTCACTGAGCTGTGCCATCTGTGGCTGAGGCCCGACCTCCACACCAAAGAGCAGATCCTGGACATGCTGGTGATGGAGCAGTTCATGATCTCCATGCCCCAGGAGCTCCAGGTCTTAGTCATG
ATGAACGGTGTGCAGAGCTGCAAAGACCTGGAGGACCTGCTACGAAATAACAGAAGACCCAAGAAATGGTCTGTGGTCACCTTCCACGGAAAGGAATATATTGTGCAGGACTCAGATATCGAGATGGC
TGAAGCCCCCTCCAGTGTCAGAGATGATCTGAAAGACGTGTCCAGCCAACGGGCCTCCTCGGTGAACCAGATGCGTCCAGGGGAAGGCCAGGCCCACCGAGAGCTGCAGATCCTGCCCAGGGTCCCTG
CATTGTCCAGGAGGCAGGGAGAGGACTTTCTGCTACACAAGAGTATTGACGTAACAGGTGACCCAAAGTCTCTGAGACCCAAGCAGACCTTGGAGAAGGATCTGAAGGAAAACAGGGAAGAGAACCCA
GGACTGACATCCCCAGAGCCTCAGCTTCCAAAGAGTCCCACAGATCTGGTGAGAGCAAAGGAGGGGAAGGACCCCCCAAAAATAGCCTCTGTGGAAAATGTGGATGCTGACACACCTTCTGCCTGCGT
TGTGGAGAGAGAAGCTTCGACTCACAGCGGGAACAGAGGAGACGCTCTGAATCTGAGCAGTCCCAAAAGAAGCAAACCAGATGCCTCCTCCATTTCCCAAGAAGAGCCTCAAGGAGAAGCCACACCTG
TGGGCAACAGAGAATCCCCGGGACAAGCTGGGATGAATTCAATTCATTCCCCAGGCCCTGCGAGCCCAGTCAGTCACCCGGATGGCCAAGAAGCCAAGGCACTGCCGCCCTTTGCATGTGACGTGTGC
GAGAAGAGGTTTACGTGTAATTCCAAGCTAGTCATCCACAAGAGATCACACACAGGCGAGAGACTCTTTCAATGTAATCTCTGTGGGAAGCGCTTCATGCAGCTTATTAGCCTCCAATTTCACCAGCG
AACCCACACTGGCGAGAGGCCCTACACGTGTGACGTCTGCCAGAAGCAGTTCACCCAGAAGTCCTACTTGAAGTGTCACAAGAGAAGCCACACAGGGGAGAAGCCCTTCGAATGTAAAGACTGCAAGA
AAGTTTTCACCTACAGGGGGAGCCTGAAGGAGCACCAGCGCATCCACTCCGGAGAGAAACCCTACAAATGTTCCAAGTGTCCAAGAGCCTTCAGTCGGCTGAAATTGTTAAGACGCCACCAGAAAACA
CATCCAGAAGCTACTTCTCAGTGATTGCATAATCCGGTCTATGCCTTCTGCACCAAGAAGAAGTGAATGATATTTTTCATCAATGTTATCAGATGACATTTGACACATGCAAGGGCGTCTGACACACA
GAGGGAGTGCCCTAGATATGAATTGCCAGGATGTTTGAGTAAATATGTGTCCTCCCCACTGAGCTTTGTTTTCTGTTTCATTATGTCCATTGTTTTCTTATAGGTTTATTTTGGTTTGTGTTGCTGTT
CTTCCAATAAACGATCATCTTATTAGTTTTCAATATTGTA

hide sequence

RefSeq Acc Id:

NM_001322067 ⟹ NP_001308996

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	56,221,303 - 56,314,562 (-)	NCBI
CHM1_1	19	56,726,243 - 56,818,401 (-)	NCBI
T2T-CHM13v2.0	19	59,320,082 - 59,412,283 (-)	NCBI

Sequence:

show sequence

AGATTCGTGGGAGGACCGAGCCCGGGGATGGGACTGGAGGAGTTTCCGTGACCTTGCGGGCTGT
TTGTGCTGAGGGACAGCTTTATTTAAATAATAATATGCGTGCAGGCGCCCTGCATGATTCCTGGCCGCGTGCTTTCTAGGGAGGTTCCCTGCTCAAGCTCTCTTCTCTTGTCTGCTGCCATGTGAGAC
GTGCCTTTGACCTTCTGCCATGATTGTGAGGCCTCCCCAGCCACGTGAAACTATATGGCTGCAAATTGCACATCCTCATGGAGTCTAGGAGAATCCTGCAACAGACCTGGGTTGGAGCTGCCACGGTC
TATGGCATCCTCAGAAACTCAACTTGGAAATCACGACGTGGACCCTGAGATTTCTCACGTGAACTTCAGGATGTTCAGCTGCCCGAAGGAGTCGGACCCCATCCAGGCTCTGAGGAAACTCACTGAGC
TGTGCCATCTGTGGCTGAGGCCCGACCTCCACACCAAAGAGCAGATCCTGGACATGCTGGTGATGGAGCAGTTCATGATCTCCATGCCCCAGGAGCTCCAGGTCTTAGTCATGATGAACGGTGTGCAG
AGCTGCAAAGACCTGGAGGACCTGCTACGAAATAACAGAAGACCCAAGAAATGGTCTGTGGTCACCTTCCACGGAAAGGAATATATTGTGCAGGACTCAGATATCGAGATGGCTGAAGCCCCCTCCAG
TGTCAGAGATGATCTGAAAGACGTGTCCAGCCAACGGGCCTCCTCGGTGAACCAGATGCGTCCAGGGGAAGGCCAGGCCCACCGAGAGCTGCAGATCCTGCCCAGGGTCCCTGCATTGTCCAGGAGGC
AGGGAGAGGACTTTCTGCTACACAAGAGTATTGACGTAACAGGTGACCCAAAGTCTCTGAGACCCAAGCAGACCTTGGAGAAGGATCTGAAGGAAAACAGGGAAGAGAACCCAGGACTGACATCCCCA
GAGCCTCAGCTTCCAAAGAGTCCCACAGATCTGGTGAGAGCAAAGGAGGGGAAGGACCCCCCAAAAATAGCCTCTGTGGAAAATGTGGATGCTGACACACCTTCTGCCTGCGTTGTGGAGAGAGAAGC
TTCGACTCACAGCGGGAACAGAGGAGACGCTCTGAATCTGAGCAGTCCCAAAAGAAGCAAACCAGATGCCTCCTCCATTTCCCAAGAAGAGCCTCAAGGAGAAGCCACACCTGTGGGCAACAGAGAAT
CCCCGGGACAAGCTGGGATGAATTCAATTCATTCCCCAGGCCCTGCGAGCCCAGTCAGTCACCCGGATGGCCAAGAAGCCAAGGCACTGCCGCCCTTTGCATGTGACGTGTGCGAGAAGAGGTTTACG
TGTAATTCCAAGCTAGTCATCCACAAGAGATCACACACAGGCGAGAGACTCTTTCAATGTAATCTCTGTGGGAAGCGCTTCATGCAGCTTATTAGCCTCCAATTTCACCAGCGAACCCACACTGGCGA
GAGGCCCTACACGTGTGACGTCTGCCAGAAGCAGTTCACCCAGAAGTCCTACTTGAAGTGTCACAAGAGAAGCCACACAGGGGAGAAGCCCTTCGAATGTAAAGACTGCAAGAAAGTTTTCACCTACA
GGGGGAGCCTGAAGGAGCACCAGCGCATCCACTCCGGAGAGAAACCCTACAAATGTTCCAAGTGTCCAAGAGCCTTCAGTCGGCTGAAATTGTTAAGACGCCACCAGAAAACACATCCAGAAGCTACT
TCTCAGTGATTGCATAATCCGGTCTATGCCTTCTGCACCAAGAAGAAGTGAATGATATTTTTCATCAATGTTATCAGATGACATTTGACACATGCAAGGGCGTCTGACACACAGAGGGAGTGCCCTAG
ATATGAATTGCCAGGATGTTTGAGTAAATATGTGTCCTCCCCACTGAGCTTTGTTTTCTGTTTCATTATGTCCATTGTTTTCTTATAGGTTTATTTTGGTTTGTGTTGCTGTTCTTCCAATAAACGAT
CATCTTATTAGTTTTCAATATTGTA

hide sequence

RefSeq Acc Id:

NM_001322068 ⟹ NP_001308997

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	56,221,303 - 56,314,562 (-)	NCBI
CHM1_1	19	56,726,243 - 56,818,401 (-)	NCBI
T2T-CHM13v2.0	19	59,320,082 - 59,412,283 (-)	NCBI

Sequence:

show sequence

AGATTCGTGGGAGGACCGAGCCCGGGGATGGGACTGGAGGAGTTTCCGTGACCTTGCGGGCTGT
TTGTGCTGAGGGACAGCTTTATTTAAATAATAATATGCGTGCAGGCGCCCTGCATGATTCCTGGCCGCGTGCTTTCTAGGGAGGTTCCCTGCTCAAGCTCTCTTCTCTTGTCTGCTGCCATGTGAGAC
GTGCCTTTGACCTTCTGCCATGATTGTGAGGCCTCCCCAGCCACGTGAAACTACTTCTGAATGAACAGTGAATCTATTACTGAGGAAAACCAGAGGAAGCCTGTGTAGATAGGTATCAATTAGATACC
AGCTACTGGAAGAGCTTTCTCAGAGACTGATTAAAAAATTCTCCACTAGATATGGCTGCAAATTGCACATCCTCATGGAGTCTAGGAGAATCCTGCAACAGACCTGGGTTGGAGCTGCCACGGTCTAT
GGCATCCTCAGAAACTCAACTTGGAAATCACGACGTGGACCCTGAGATTTCTCACGTGAACTTCAGGATGTTCAGCTGCCCGAAGGAGTCGGACCCCATCCAGGCTCTGAGGAAACTCACTGAGCTGT
GCCATCTGTGGCTGAGGCCCGACCTCCACACCAAAGAGCAGATCCTGGACATGCTGGTGATGGAGCAGTTCATGATCTCCATGCCCCAGGAGCTCCAGGTCTTAGTCATGATGAACGGTGTGCAGAGC
TGCAAAGACCTGGAGGACCTGCTACGAAATAACAGAAGACCCAAGAAATGGTCTGTGGTCACCTTCCACGGAAAGGAATATATTGTGCAGGACTCAGATATCGAGATGGCTGAAGCCCCCTCCAGTGT
CAGAGATGATCTGAAAGACGTGTCCAGCCAACGGGCCTCCTCGGTGAACCAGATGCGTCCAGGGGAAGGCCAGGCCCACCGAGAGCTGCAGATCCTGCCCAGGGTCCCTGCATTGTCCAGGAGGCAGG
GAGAGGACTTTCTGCTACACAAGAGTATTGACGTAACAGGTGACCCAAAGTCTCTGAGACCCAAGCAGACCTTGGAGAAGGATCTGAAGGAAAACAGGGAAGAGAACCCAGGACTGACATCCCCAGAG
CCTCAGCTTCCAAAGAGTCCCACAGATCTGGTGAGAGCAAAGGAGGGGAAGGACCCCCCAAAAATAGCCTCTGTGGAAAATGTGGATGCTGACACACCTTCTGCCTGCGTTGTGGAGAGAGAAGCTTC
GACTCACAGCGGGAACAGAGGAGACGCTCTGAATCTGAGCAGTCCCAAAAGAAGCAAACCAGATGCCTCCTCCATTTCCCAAGAAGAGCCTCAAGGAGAAGCCACACCTGTGGGCAACAGAGAATCCC
CGGGACAAGCTGGGATGAATTCAATTCATTCCCCAGGCCCTGCGAGCCCAGTCAGTCACCCGGATGGCCAAGAAGCCAAGGCACTGCCGCCCTTTGCATGTGACGTGTGCGAGAAGAGGTTTACGTGT
AATTCCAAGCTAGTCATCCACAAGAGATCACACACAGGCGAGAGACTCTTTCAATGTAATCTCTGTGGGAAGCGCTTCATGCAGCTTATTAGCCTCCAATTTCACCAGCGAACCCACACTGGCGAGAG
GCCCTACACGTGTGACGTCTGCCAGAAGCAGTTCACCCAGAAGTCCTACTTGAAGTGTCACAAGAGAAGCCACACAGGGGAGAAGCCCTTCGAATGTAAAGACTGCAAGAAAGTTTTCACCTACAGGG
GGAGCCTGAAGGAGCACCAGCGCATCCACTCCGGAGAGAAACCCTACAAATGTTCCAAGTGTCCAAGAGCCTTCAGTCGGCTGAAATTGTTAAGACGCCACCAGAAAACACATCCAGAAGCTACTTCT
CAGTGATTGCATAATCCGGTCTATGCCTTCTGCACCAAGAAGAAGTGAATGATATTTTTCATCAATGTTATCAGATGACATTTGACACATGCAAGGGCGTCTGACACACAGAGGGAGTGCCCTAGATA
TGAATTGCCAGGATGTTTGAGTAAATATGTGTCCTCCCCACTGAGCTTTGTTTTCTGTTTCATTATGTCCATTGTTTTCTTATAGGTTTATTTTGGTTTGTGTTGCTGTTCTTCCAATAAACGATCAT
CTTATTAGTTTTCAATATTGTA

hide sequence

RefSeq Acc Id:

NM_001322070 ⟹ NP_001308999

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	56,221,303 - 56,314,345 (-)	NCBI
CHM1_1	19	56,726,243 - 56,818,401 (-)	NCBI
T2T-CHM13v2.0	19	59,320,082 - 59,412,066 (-)	NCBI

Sequence:

show sequence

AGACTTCCTTTCACGCCTGTCGCCAGGTTAACTAGGTCACTGTTTGCTCTCAGGAGCAACCCTG
CCTCCCGCAGTTCGCTTGGTCCTTGATTACAGGGGAGGTTCCCTGCTCAAGCTCTCTTCTCTTGTCTGCTGCCATGTGAGACGTGCCTTTGACCTTCTGCCATGATTGTGAGGCCTCCCCAGCCACGT
GAAACTATATGGCTGCAAATTGCACATCCTCATGGAGTCTAGGAGAATCCTGCAACAGACCTGGGTTGGAGCTGCCACGGTCTATGGCATCCTCAGAAACTCAACTTGGAAATCACGACGTGGACCCT
GAGATTTCTCACGTGAACTTCAGGATGTTCAGCTGCCCGAAGGAGTCGGACCCCATCCAGGCTCTGAGGAAACTCACTGAGCTGTGCCATCTGTGGCTGAGGCCCGACCTCCACACCAAAGAGCAGAT
CCTGGACATGCTGGTGATGGAGCAGTTCATGATCTCCATGCCCCAGGAGCTCCAGGTCTTAGTCATGATGAACGGTGTGCAGAGCTGCAAAGACCTGGAGGACCTGCTACGAAATAACAGAAGACCCA
AGAAATGGTCTGTGGTCACCTTCCACGGAAAGGAATATATTGTGCAGGACTCAGATATCGAGATGGCTGAAGCCCCCTCCAGTGTCAGAGATGATCTGAAAGACGTGTCCAGCCAACGGGCCTCCTCG
GTGAACCAGATGCGTCCAGGGGAAGGCCAGGCCCACCGAGAGCTGCAGATCCTGCCCAGGGTCCCTGCATTGTCCAGGAGGCAGGGAGAGGACTTTCTGCTACACAAGAGTATTGACGTAACAGGTGA
CCCAAAGTCTCTGAGACCCAAGCAGACCTTGGAGAAGGATCTGAAGGAAAACAGGGAAGAGAACCCAGGACTGACATCCCCAGAGCCTCAGCTTCCAAAGAGTCCCACAGATCTGGTGAGAGCAAAGG
AGGGGAAGGACCCCCCAAAAATAGCCTCTGTGGAAAATGTGGATGCTGACACACCTTCTGCCTGCGTTGTGGAGAGAGAAGCTTCGACTCACAGCGGGAACAGAGGAGACGCTCTGAATCTGAGCAGT
CCCAAAAGAAGCAAACCAGATGCCTCCTCCATTTCCCAAGAAGAGCCTCAAGGAGAAGCCACACCTGTGGGCAACAGAGAATCCCCGGGACAAGCTGGGATGAATTCAATTCATTCCCCAGGCCCTGC
GAGCCCAGTCAGTCACCCGGATGGCCAAGAAGCCAAGGCACTGCCGCCCTTTGCATGTGACGTGTGCGAGAAGAGGTTTACGTGTAATTCCAAGCTAGTCATCCACAAGAGATCACACACAGGCGAGA
GACTCTTTCAATGTAATCTCTGTGGGAAGCGCTTCATGCAGCTTATTAGCCTCCAATTTCACCAGCGAACCCACACTGGCGAGAGGCCCTACACGTGTGACGTCTGCCAGAAGCAGTTCACCCAGAAG
TCCTACTTGAAGTGTCACAAGAGAAGCCACACAGGGGAGAAGCCCTTCGAATGTAAAGACTGCAAGAAAGTTTTCACCTACAGGGGGAGCCTGAAGGAGCACCAGCGCATCCACTCCGGAGAGAAACC
CTACAAATGTTCCAAGTGTCCAAGAGCCTTCAGTCGGCTGAAATTGTTAAGACGCCACCAGAAAACACATCCAGAAGCTACTTCTCAGTGATTGCATAATCCGGTCTATGCCTTCTGCACCAAGAAGA
AGTGAATGATATTTTTCATCAATGTTATCAGATGACATTTGACACATGCAAGGGCGTCTGACACACAGAGGGAGTGCCCTAGATATGAATTGCCAGGATGTTTGAGTAAATATGTGTCCTCCCCACTG
AGCTTTGTTTTCTGTTTCATTATGTCCATTGTTTTCTTATAGGTTTATTTTGGTTTGTGTTGCTGTTCTTCCAATAAACGATCATCTTATTAGTTTTCAATATTGTA

hide sequence

RefSeq Acc Id:

NM_001322072 ⟹ NP_001309001

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	56,221,303 - 56,368,278 (-)	NCBI
CHM1_1	19	56,726,243 - 56,873,322 (-)	NCBI
T2T-CHM13v2.0	19	59,320,082 - 59,462,670 (-)	NCBI

Sequence:

show sequence

ACGGCCCCGCTCCCAGTGACCGGAATGCAGAGGCGTACATGGCTAAGAGACGAGCTACCTGGGACACAAAGATGAGAACCACAAGCATGAGAACATGAGGATAAATACACTTTGGGGAAAAAGAAAAC
AGACAGAGGCAGCAGAGAAGGAAGACGAGAAGAAGAGAAAAAGAGAAGTAGGAAGAGGATGAATTCATTTCGCTTATCTGGCAAATGTGTAATCTGAGTAATAGAGATGGTGCAATGCTGGGCCACAG
AGCTTGCCCCAGGTCCCCAAGCAAAGTCAGTGGCACTGCCTGGACTGGAAGTTCATCCCCATCCATTTTCACGTGCGGAGTCTCAGGGCTCAGTAAAGAACCATGATTGACGGAGGTCACACAGCAAC
TGGTATGACAGGGACAGGTTTCCGGAATTCCAGTGTCTTAACACCAAAGCCTGTAGTATTTCTCAGAGAGAACAACACCACTGCTCGTGTGTGCTCAGAAGAAAGTTTAGTGGTCGTAACATCCAATA
CATCCAACCTGCAGATCAATACACAAAGACCCTGGAGGAAGGTGGGGCGGTAACTTGTCCAAATCTCCAAAGAAAAGATATGGCTGCAAATTGCACATCCTCATGGAGTCTAGGAGAATCCTGCAACA
GACCTGGGTTGGAGCTGCCACGGTCTATGGCATCCTCAGAAACTCAACTTGGAAATCACGACGTGGACCCTGAGATTTCTCACGTGAACTTCAGGATGTTCAGCTGCCCGAAGGAGTCGGACCCCATC
CAGGCTCTGAGGAAACTCACTGAGCTGTGCCATCTGTGGCTGAGGCCCGACCTCCACACCAAAGAGCAGATCCTGGACATGCTGGTGATGGAGCAGTTCATGATCTCCATGCCCCAGGAGCTCCAGGT
CTTAGTCATGATGAACGGTGTGCAGAGCTGCAAAGACCTGGAGGACCTGCTACGAAATAACAGAAGACCCAAGAAATGGTCTGTGGTCACCTTCCACGGAAAGGAATATATTGTGCAGGACTCAGATA
TCGAGATGGCTGAAGCCCCCTCCAGTGTCAGAGATGATCTGAAAGACGTGTCCAGCCAACGGGCCTCCTCGGTGAACCAGATGCGTCCAGGGGAAGGCCAGGCCCACCGAGAGCTGCAGATCCTGCCC
AGGGTCCCTGCATTGTCCAGGAGGCAGGGAGAGGACTTTCTGCTACACAAGAGTATTGACGTAACAGGTGACCCAAAGTCTCTGAGACCCAAGCAGACCTTGGAGAAGGATCTGAAGGAAAACAGGGA
AGAGAACCCAGGACTGACATCCCCAGAGCCTCAGCTTCCAAAGAGTCCCACAGATCTGGTGAGAGCAAAGGAGGGGAAGGACCCCCCAAAAATAGCCTCTGTGGAAAATGTGGATGCTGACACACCTT
CTGCCTGCGTTGTGGAGAGAGAAGCTTCGACTCACAGCGGGAACAGAGGAGACGCTCTGAATCTGAGCAGTCCCAAAAGAAGCAAACCAGATGCCTCCTCCATTTCCCAAGAAGAGCCTCAAGGAGAA
GCCACACCTGTGGGCAACAGAGAATCCCCGGGACAAGCTGGGATGAATTCAATTCATTCCCCAGGCCCTGCGAGCCCAGTCAGTCACCCGGATGGCCAAGAAGCCAAGGCACTGCCGCCCTTTGCATG
TGACGTGTGCGAGAAGAGGTTTACGTGTAATTCCAAGCTAGTCATCCACAAGAGATCACACACAGGCGAGAGACTCTTTCAATGTAATCTCTGTGGGAAGCGCTTCATGCAGCTTATTAGCCTCCAAT
TTCACCAGCGAACCCACACTGGCGAGAGGCCCTACACGTGTGACGTCTGCCAGAAGCAGTTCACCCAGAAGTCCTACTTGAAGTGTCACAAGAGAAGCCACACAGGGGAGAAGCCCTTCGAATGTAAA
GACTGCAAGAAAGTTTTCACCTACAGGGGGAGCCTGAAGGAGCACCAGCGCATCCACTCCGGAGAGAAACCCTACAAATGTTCCAAGTGTCCAAGAGCCTTCAGTCGGCTGAAATTGTTAAGACGCCA
CCAGAAAACACATCCAGAAGCTACTTCTCAGTGATTGCATAATCCGGTCTATGCCTTCTGCACCAAGAAGAAGTGAATGATATTTTTCATCAATGTTATCAGATGACATTTGACACATGCAAGGGCGT
CTGACACACAGAGGGAGTGCCCTAGATATGAATTGCCAGGATGTTTGAGTAAATATGTGTCCTCCCCACTGAGCTTTGTTTTCTGTTTCATTATGTCCATTGTTTTCTTATAGGTTTATTTTGGTTTG
TGTTGCTGTTCTTCCAATAAACGATCATCTTATTAGTTTTCAATATTGTA

hide sequence

RefSeq Acc Id:

NM_001322073 ⟹ NP_001309002

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	56,221,303 - 56,314,839 (-)	NCBI
CHM1_1	19	56,726,243 - 56,818,762 (-)	NCBI
T2T-CHM13v2.0	19	59,320,082 - 59,412,560 (-)	NCBI

Sequence:

show sequence

AATGTGAATGCGACAAGTTCCCGATCCAGGCGTCCCGCTCTCCCCGGCCCCACTCGCCAGGTCC
TACCACGATGCCTGACTCGTTTGCGGCTTTGGGACCGGTTGTAGGTGGCTTGACCGTCACTAGTAGACGTTTCTGAGTGTGTCGCGGTCACCATGGGGAGGTTCCCTGCTCAAGCTCTCTTCTCTTGT
CTGCTGCCATGTGAGACGTGCCTTTGACCTTCTGCCATGATTGTGAGGCCTCCCCAGCCACGTGAAACTATATGGCTGCAAATTGCACATCCTCATGGAGTCTAGGAGAATCCTGCAACAGACCTGGG
TTGGAGCTGCCACGGTCTATGGCATCCTCAGAAACTCAACTTGGAAATCACGACGTGGACCCTGAGATTTCTCACGTGAACTTCAGGATGTTCAGCTGCCCGAAGGAGTCGGACCCCATCCAGGCTCT
GAGGAAACTCACTGAGCTGTGCCATCTGTGGCTGAGGCCCGACCTCCACACCAAAGAGCAGATCCTGGACATGCTGGTGATGGAGCAGTTCATGATCTCCATGCCCCAGGAGCTCCAGGTCTTAGTCA
TGATGAACGGTGTGCAGAGCTGCAAAGACCTGGAGGACCTGCTACGAAATAACAGAAGACCCAAGAAATGGTCTGTGGTCACCTTCCACGGAAAGGAATATATTGTGCAGGACTCAGATATCGAGATG
GCTGAAGCCCCCTCCAGTGTCAGAGATGATCTGAAAGACGTGTCCAGCCAACGGGCCTCCTCGGTGAACCAGATGCGTCCAGGGGAAGGCCAGGCCCACCGAGAGCTGCAGATCCTGCCCAGGGTCCC
TGCATTGTCCAGGAGGCAGGGAGAGGACTTTCTGCTACACAAGAGTATTGACGTAACAGGTGACCCAAAGTCTCTGAGACCCAAGCAGACCTTGGAGAAGGATCTGAAGGAAAACAGGGAAGAGAACC
CAGGACTGACATCCCCAGAGCCTCAGCTTCCAAAGAGTCCCAATCTGGTGAGAGCAAAGGAGGGGAAGGACCCCCCAAAAATAGCCTCTGTGGAAAATGTGGATGCTGACACACCTTCTGCCTGCGTT
GTGGAGAGAGAAGCTTCGACTCACAGCGGGAACAGAGGAGACGCTCTGAATCTGAGCAGTCCCAAAAGAAGCAAACCAGATGCCTCCTCCATTTCCCAAGAAGAGCCTCAAGGAGAAGCCACACCTGT
GGGCAACAGAGAATCCCCGGGACAAGCTGGGATGAATTCAATTCATTCCCCAGGCCCTGCGAGCCCAGTCAGTCACCCGGATGGCCAAGAAGCCAAGGCACTGCCGCCCTTTGCATGTGACGTGTGCG
AGAAGAGGTTTACGTGTAATTCCAAGCTAGTCATCCACAAGAGATCACACACAGGCGAGAGACTCTTTCAATGTAATCTCTGTGGGAAGCGCTTCATGCAGCTTATTAGCCTCCAATTTCACCAGCGA
ACCCACACTGGCGAGAGGCCCTACACGTGTGACGTCTGCCAGAAGCAGTTCACCCAGAAGTCCTACTTGAAGTGTCACAAGAGAAGCCACACAGGGGAGAAGCCCTTCGAATGTAAAGACTGCAAGAA
AGTTTTCACCTACAGGGGGAGCCTGAAGGAGCACCAGCGCATCCACTCCGGAGAGAAACCCTACAAATGTTCCAAGTGTCCAAGAGCCTTCAGTCGGCTGAAATTGTTAAGACGCCACCAGAAAACAC
ATCCAGAAGCTACTTCTCAGTGATTGCATAATCCGGTCTATGCCTTCTGCACCAAGAAGAAGTGAATGATATTTTTCATCAATGTTATCAGATGACATTTGACACATGCAAGGGCGTCTGACACACAG
AGGGAGTGCCCTAGATATGAATTGCCAGGATGTTTGAGTAAATATGTGTCCTCCCCACTGAGCTTTGTTTTCTGTTTCATTATGTCCATTGTTTTCTTATAGGTTTATTTTGGTTTGTGTTGCTGTTC
TTCCAATAAACGATCATCTTATTAGTTTTCAATATTGTA

hide sequence

RefSeq Acc Id:

NM_001322074 ⟹ NP_001309003

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	56,221,303 - 56,314,839 (-)	NCBI
CHM1_1	19	56,726,243 - 56,818,764 (-)	NCBI
T2T-CHM13v2.0	19	59,320,082 - 59,412,560 (-)	NCBI

Sequence:

show sequence

AATGTGAATGCGACAAGTTCCCGATCCAGGCGTCCCGCTCTCCCCGGCCCCACTCGCCAGGTCC
TACCACGATGCCTGACTCGTTTGCGGCTTTGGGACCGGTTGTAGGTGGCTTGACCGTCACTAGTAGACGTTTCTGAGTGTGTCGCGGTCACCATGGGGAGGTTCCCTGCTCAAGCTCTCTTCTCTTGT
CTGCTGCCATGTGAGACGTGCCTTTGACCTTCTGCCATGATTGTGAGGCCTCCCCAGCCACGTGAAACTACTTCTGAATGAACAGTGAATCTATTACTGAGGAAAACCAGAGGAAGCCTGTGTAGATA
GGTATCAATTAGATACCAGCTACTGGAAGAGCTTTCTCAGAGACTGATTAAAAAATTCTCCACTAGATATGGCTGCAAATTGCACATCCTCATGGAGTCTAGGAGAATCCTGCAACAGACCTGGGTTG
GAGCTGCCACGGTCTATGGCATCCTCAGAAACTCAACTTGGAAATCACGACGTGGACCCTGAGATTTCTCACGTGAACTTCAGGATGTTCAGCTGCCCGAAGGAGTCGGACCCCATCCAGGCTCTGAG
GAAACTCACTGAGCTGTGCCATCTGTGGCTGAGGCCCGACCTCCACACCAAAGAGCAGATCCTGGACATGCTGGTGATGGAGCAGTTCATGATCTCCATGCCCCAGGAGCTCCAGGTCTTAGTCATGA
TGAACGGTGTGCAGAGCTGCAAAGACCTGGAGGACCTGCTACGAAATAACAGAAGACCCAAGAAATGGTCTGTGGTCACCTTCCACGGAAAGGAATATATTGTGCAGGACTCAGATATCGAGATGGCT
GAAGCCCCCTCCAGTGTCAGAGATGATCTGAAAGACGTGTCCAGCCAACGGGCCTCCTCGGTGAACCAGATGCGTCCAGGGGAAGGCCAGGCCCACCGAGAGCTGCAGATCCTGCCCAGGGTCCCTGC
ATTGTCCAGGAGGCAGGGAGAGGACTTTCTGCTACACAAGAGTATTGACGTAACAGGTGACCCAAAGTCTCTGAGACCCAAGCAGACCTTGGAGAAGGATCTGAAGGAAAACAGGGAAGAGAACCCAG
GACTGACATCCCCAGAGCCTCAGCTTCCAAAGAGTCCCAATCTGGTGAGAGCAAAGGAGGGGAAGGACCCCCCAAAAATAGCCTCTGTGGAAAATGTGGATGCTGACACACCTTCTGCCTGCGTTGTG
GAGAGAGAAGCTTCGACTCACAGCGGGAACAGAGGAGACGCTCTGAATCTGAGCAGTCCCAAAAGAAGCAAACCAGATGCCTCCTCCATTTCCCAAGAAGAGCCTCAAGGAGAAGCCACACCTGTGGG
CAACAGAGAATCCCCGGGACAAGCTGGGATGAATTCAATTCATTCCCCAGGCCCTGCGAGCCCAGTCAGTCACCCGGATGGCCAAGAAGCCAAGGCACTGCCGCCCTTTGCATGTGACGTGTGCGAGA
AGAGGTTTACGTGTAATTCCAAGCTAGTCATCCACAAGAGATCACACACAGGCGAGAGACTCTTTCAATGTAATCTCTGTGGGAAGCGCTTCATGCAGCTTATTAGCCTCCAATTTCACCAGCGAACC
CACACTGGCGAGAGGCCCTACACGTGTGACGTCTGCCAGAAGCAGTTCACCCAGAAGTCCTACTTGAAGTGTCACAAGAGAAGCCACACAGGGGAGAAGCCCTTCGAATGTAAAGACTGCAAGAAAGT
TTTCACCTACAGGGGGAGCCTGAAGGAGCACCAGCGCATCCACTCCGGAGAGAAACCCTACAAATGTTCCAAGTGTCCAAGAGCCTTCAGTCGGCTGAAATTGTTAAGACGCCACCAGAAAACACATC
CAGAAGCTACTTCTCAGTGATTGCATAATCCGGTCTATGCCTTCTGCACCAAGAAGAAGTGAATGATATTTTTCATCAATGTTATCAGATGACATTTGACACATGCAAGGGCGTCTGACACACAGAGG
GAGTGCCCTAGATATGAATTGCCAGGATGTTTGAGTAAATATGTGTCCTCCCCACTGAGCTTTGTTTTCTGTTTCATTATGTCCATTGTTTTCTTATAGGTTTATTTTGGTTTGTGTTGCTGTTCTTC
CAATAAACGATCATCTTATTAGTTTTCAATATTGTA

hide sequence

RefSeq Acc Id:

NM_001322075 ⟹ NP_001309004

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	56,221,303 - 56,314,345 (-)	NCBI
CHM1_1	19	56,726,243 - 56,818,401 (-)	NCBI
T2T-CHM13v2.0	19	59,320,082 - 59,412,066 (-)	NCBI

Sequence:

show sequence

AGACTTCCTTTCACGCCTGTCGCCAGGTTAACTAGGTCACTGTTTGCTCTCAGGAGCAACCCTG
CCTCCCGCAGTTCGCTTGGTCCTTGATTACAGGGGAGGTTCCCTGCTCAAGCTCTCTTCTCTTGTCTGCTGCCATGTGAGACGTGCCTTTGACCTTCTGCCATGATTGTGAGGCCTCCCCAGCCACGT
GAAACTACTTCTGAATGAACAGTGAATCTATTACTGAGGAAAACCAGAGGAAGCCTGTGTAGATAGGTATCAATTAGATACCAGCTACTGGAAGAGCTTTCTCAGAGACTGATTAAAAAATTCTCCAC
TAGATATGGCTGCAAATTGCACATCCTCATGGAGTCTAGGAGAATCCTGCAACAGACCTGGGTTGGAGCTGCCACGGTCTATGGCATCCTCAGAAACTCAACTTGGAAATCACGACGTGGACCCTGAG
ATTTCTCACGTGAACTTCAGGATGTTCAGCTGCCCGAAGGAGTCGGACCCCATCCAGGCTCTGAGGAAACTCACTGAGCTGTGCCATCTGTGGCTGAGGCCCGACCTCCACACCAAAGAGCAGATCCT
GGACATGCTGGTGATGGAGCAGTTCATGATCTCCATGCCCCAGGAGCTCCAGGTCTTAGTCATGATGAACGGTGTGCAGAGCTGCAAAGACCTGGAGGACCTGCTACGAAATAACAGAAGACCCAAGA
AATGGTCTGTGGTCACCTTCCACGGAAAGGAATATATTGTGCAGGACTCAGATATCGAGATGGCTGAAGCCCCCTCCAGTGTCAGAGATGATCTGAAAGACGTGTCCAGCCAACGGGCCTCCTCGGTG
AACCAGATGCGTCCAGGGGAAGGCCAGGCCCACCGAGAGCTGCAGATCCTGCCCAGGGTCCCTGCATTGTCCAGGAGGCAGGGAGAGGACTTTCTGCTACACAAGAGTATTGACGTAACAGGTGACCC
AAAGTCTCTGAGACCCAAGCAGACCTTGGAGAAGGATCTGAAGGAAAACAGGGAAGAGAACCCAGGACTGACATCCCCAGAGCCTCAGCTTCCAAAGAGTCCCAATCTGGTGAGAGCAAAGGAGGGGA
AGGACCCCCCAAAAATAGCCTCTGTGGAAAATGTGGATGCTGACACACCTTCTGCCTGCGTTGTGGAGAGAGAAGCTTCGACTCACAGCGGGAACAGAGGAGACGCTCTGAATCTGAGCAGTCCCAAA
AGAAGCAAACCAGATGCCTCCTCCATTTCCCAAGAAGAGCCTCAAGGAGAAGCCACACCTGTGGGCAACAGAGAATCCCCGGGACAAGCTGGGATGAATTCAATTCATTCCCCAGGCCCTGCGAGCCC
AGTCAGTCACCCGGATGGCCAAGAAGCCAAGGCACTGCCGCCCTTTGCATGTGACGTGTGCGAGAAGAGGTTTACGTGTAATTCCAAGCTAGTCATCCACAAGAGATCACACACAGGCGAGAGACTCT
TTCAATGTAATCTCTGTGGGAAGCGCTTCATGCAGCTTATTAGCCTCCAATTTCACCAGCGAACCCACACTGGCGAGAGGCCCTACACGTGTGACGTCTGCCAGAAGCAGTTCACCCAGAAGTCCTAC
TTGAAGTGTCACAAGAGAAGCCACACAGGGGAGAAGCCCTTCGAATGTAAAGACTGCAAGAAAGTTTTCACCTACAGGGGGAGCCTGAAGGAGCACCAGCGCATCCACTCCGGAGAGAAACCCTACAA
ATGTTCCAAGTGTCCAAGAGCCTTCAGTCGGCTGAAATTGTTAAGACGCCACCAGAAAACACATCCAGAAGCTACTTCTCAGTGATTGCATAATCCGGTCTATGCCTTCTGCACCAAGAAGAAGTGAA
TGATATTTTTCATCAATGTTATCAGATGACATTTGACACATGCAAGGGCGTCTGACACACAGAGGGAGTGCCCTAGATATGAATTGCCAGGATGTTTGAGTAAATATGTGTCCTCCCCACTGAGCTTT
GTTTTCTGTTTCATTATGTCCATTGTTTTCTTATAGGTTTATTTTGGTTTGTGTTGCTGTTCTTCCAATAAACGATCATCTTATTAGTTTTCAATATTGTA

hide sequence

RefSeq Acc Id:

NM_001322076 ⟹ NP_001309005

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	56,221,303 - 56,314,345 (-)	NCBI
CHM1_1	19	56,726,243 - 56,818,401 (-)	NCBI
T2T-CHM13v2.0	19	59,320,082 - 59,412,066 (-)	NCBI

Sequence:

show sequence

AGACTTCCTTTCACGCCTGTCGCCAGGTTAACTAGGTCACTGTTTGCTCTCAGGAGCAACCCTGCCTCCCGCAGTTCGCTTGGTCCTTGATTACAGGGGAGGTTCCCTGCTCAAGCTCTCTTCTCTTG
TCTGCTGCCATGTGAGACGTGCCTTTGACCTTCTGCCATGATTGTGAGGCCTCCCCAGCCACGTGAAACTATATGGCTGCAAATTGCACATCCTCATGGAGTCTAGGAGAATCCTGCAACAGACCTGG
GTTGGAGCTGCCACGGTCTATGGCATCCTCAGAAACTCAACTTGGAAATCACGACGTGGACCCTGAGATTTCTCACGTGAACTTCAGGATGTTCAGCTGCCCGAAGGAGTCGGACCCCATCCAGGCTC
TGAGGAAACTCACTGAGCTGTGCCATCTGTGGCTGAGGCCCGACCTCCACACCAAAGAGCAGATCCTGGACATGCTGGTGATGGAGCAGTTCATGATCTCCATGCCCCAGGAGCTCCAGGTCTTAGTC
ATGATGAACGGTGTGCAGAGCTGCAAAGACCTGGAGGACCTGCTACGAAATAACAGAAGACCCAAGAAATGGTCTGTGGTCACCTTCCACGGAAAGGAATATATTGTGCAGGACTCAGATATCGAGAT
GGCTGAAGCCCCCTCCAGTGTCAGAGATGATCTGAAAGACGTGTCCAGCCAACGGGCCTCCTCGGTGAACCAGATGCGTCCAGGGGAAGGCCAGGCCCACCGAGAGCTGCAGATCCTGCCCAGGGTCC
CTGCATTGTCCAGGAGGCAGGGAGAGGACTTTCTGCTACACAAGAGTATTGACGTAACAGGTGACCCAAAGTCTCTGAGACCCAAGCAGACCTTGGAGAAGGATCTGAAGGAAAACAGGGAAGAGAAC
CCAGGACTGACATCCCCAGAGCCTCAGCTTCCAAAGAGTCCCAATCTGGTGAGAGCAAAGGAGGGGAAGGACCCCCCAAAAATAGCCTCTGTGGAAAATGTGGATGCTGACACACCTTCTGCCTGCGT
TGTGGAGAGAGAAGCTTCGACTCACAGCGGGAACAGAGGAGACGCTCTGAATCTGAGCAGTCCCAAAAGAAGCAAACCAGATGCCTCCTCCATTTCCCAAGAAGAGCCTCAAGGAGAAGCCACACCTG
TGGGCAACAGAGAATCCCCGGGACAAGCTGGGATGAATTCAATTCATTCCCCAGGCCCTGCGAGCCCAGTCAGTCACCCGGATGGCCAAGAAGCCAAGGCACTGCCGCCCTTTGCATGTGACGTGTGC
GAGAAGAGGTTTACGTGTAATTCCAAGCTAGTCATCCACAAGAGATCACACACAGGCGAGAGACTCTTTCAATGTAATCTCTGTGGGAAGCGCTTCATGCAGCTTATTAGCCTCCAATTTCACCAGCG
AACCCACACTGGCGAGAGGCCCTACACGTGTGACGTCTGCCAGAAGCAGTTCACCCAGAAGTCCTACTTGAAGTGTCACAAGAGAAGCCACACAGGGGAGAAGCCCTTCGAATGTAAAGACTGCAAGA
AAGTTTTCACCTACAGGGGGAGCCTGAAGGAGCACCAGCGCATCCACTCCGGAGAGAAACCCTACAAATGTTCCAAGTGTCCAAGAGCCTTCAGTCGGCTGAAATTGTTAAGACGCCACCAGAAAACA
CATCCAGAAGCTACTTCTCAGTGATTGCATAATCCGGTCTATGCCTTCTGCACCAAGAAGAAGTGAATGATATTTTTCATCAATGTTATCAGATGACATTTGACACATGCAAGGGCGTCTGACACACA
GAGGGAGTGCCCTAGATATGAATTGCCAGGATGTTTGAGTAAATATGTGTCCTCCCCACTGAGCTTTGTTTTCTGTTTCATTATGTCCATTGTTTTCTTATAGGTTTATTTTGGTTTGTGTTGCTGTT
CTTCCAATAAACGATCATCTTATTAGTTTTCAATATTGTA

hide sequence

RefSeq Acc Id:

NM_001322077 ⟹ NP_001309006

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	56,221,303 - 56,314,839 (-)	NCBI
CHM1_1	19	56,726,243 - 56,818,762 (-)	NCBI
T2T-CHM13v2.0	19	59,320,082 - 59,412,560 (-)	NCBI

Sequence:

show sequence

AATGTGAATGCGACAAGTTCCCGATCCAGGCGTCCCGCTCTCCCCGGCCCCACTCGCCAGGTCC
TACCACGATGCCTGACTCGTTTGCGGCTTTGGGACCGGTTGTAGGTGGCTTGACCGTCACTAGTAGACGTTTCTGAGTGTGTCGCGGTCACCATGGGGAGGTTCCCTGCTCAAGCTCTCTTCTCTTGT
CTGCTGCCATGTGAGACGTGCCTTTGACCTTCTGCCATGATTGTGAGGCCTCCCCAGCCACGTGAAACTTCTGTGGTCACCTTCCACGGAAAGGAATATATTGTGCAGGACTCAGATATCGAGATGGC
TGAAGCCCCCTCCAGTGTCAGAGATGATCTGAAAGACGTGTCCAGCCAACGGGCCTCCTCGGTGAACCAGATGCGTCCAGGGGAAGGCCAGGCCCACCGAGAGCTGCAGATCCTGCCCAGGGTCCCTG
CATTGTCCAGGAGGCAGGGAGAGGACTTTCTGCTACACAAGAGTATTGACGTAACAGGTGACCCAAAGTCTCTGAGACCCAAGCAGACCTTGGAGAAGGATCTGAAGGAAAACAGGGAAGAGAACCCA
GGACTGACATCCCCAGAGCCTCAGCTTCCAAAGAGTCCCACAGATCTGGTGAGAGCAAAGGAGGGGAAGGACCCCCCAAAAATAGCCTCTGTGGAAAATGTGGATGCTGACACACCTTCTGCCTGCGT
TGTGGAGAGAGAAGCTTCGACTCACAGCGGGAACAGAGGAGACGCTCTGAATCTGAGCAGTCCCAAAAGAAGCAAACCAGATGCCTCCTCCATTTCCCAAGAAGAGCCTCAAGGAGAAGCCACACCTG
TGGGCAACAGAGAATCCCCGGGACAAGCTGGGATGAATTCAATTCATTCCCCAGGCCCTGCGAGCCCAGTCAGTCACCCGGATGGCCAAGAAGCCAAGGCACTGCCGCCCTTTGCATGTGACGTGTGC
GAGAAGAGGTTTACGTGTAATTCCAAGCTAGTCATCCACAAGAGATCACACACAGGCGAGAGACTCTTTCAATGTAATCTCTGTGGGAAGCGCTTCATGCAGCTTATTAGCCTCCAATTTCACCAGCG
AACCCACACTGGCGAGAGGCCCTACACGTGTGACGTCTGCCAGAAGCAGTTCACCCAGAAGTCCTACTTGAAGTGTCACAAGAGAAGCCACACAGGGGAGAAGCCCTTCGAATGTAAAGACTGCAAGA
AAGTTTTCACCTACAGGGGGAGCCTGAAGGAGCACCAGCGCATCCACTCCGGAGAGAAACCCTACAAATGTTCCAAGTGTCCAAGAGCCTTCAGTCGGCTGAAATTGTTAAGACGCCACCAGAAAACA
CATCCAGAAGCTACTTCTCAGTGATTGCATAATCCGGTCTATGCCTTCTGCACCAAGAAGAAGTGAATGATATTTTTCATCAATGTTATCAGATGACATTTGACACATGCAAGGGCGTCTGACACACA
GAGGGAGTGCCCTAGATATGAATTGCCAGGATGTTTGAGTAAATATGTGTCCTCCCCACTGAGCTTTGTTTTCTGTTTCATTATGTCCATTGTTTTCTTATAGGTTTATTTTGGTTTGTGTTGCTGTT
CTTCCAATAAACGATCATCTTATTAGTTTTCAATATTGTA

hide sequence

RefSeq Acc Id:

NM_001322078 ⟹ NP_001309007

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	56,221,303 - 56,314,839 (-)	NCBI
CHM1_1	19	56,726,243 - 56,818,762 (-)	NCBI
T2T-CHM13v2.0	19	59,320,082 - 59,412,560 (-)	NCBI

Sequence:

show sequence

AATGTGAATGCGACAAGTTCCCGATCCAGGCGTCCCGCTCTCCCCGGCCCCACTCGCCAGGTCC
TACCACGATGCCTGACTCGTTTGCGGCTTTGGGACCGGTTGTAGGTGGCTTGACCGTCACTAGTAGACGTTTCTGAGTGTGTCGCGGTCACCATGGGGAGGTTCCCTGCTCAAGCTCTCTTCTCTTGT
CTGCTGCCATGTGAGACGTGCCTTTGACCTTCTGCCATGATTGTGAGGCCTCCCCAGCCACGTGAAACTGACTCAGATATCGAGATGGCTGAAGCCCCCTCCAGTGTCAGAGATGATCTGAAAGACGT
GTCCAGCCAACGGGCCTCCTCGGTGAACCAGATGCGTCCAGGGGAAGGCCAGGCCCACCGAGAGCTGCAGATCCTGCCCAGGGTCCCTGCATTGTCCAGGAGGCAGGGAGAGGACTTTCTGCTACACA
AGAGTATTGACGTAACAGGTGACCCAAAGTCTCTGAGACCCAAGCAGACCTTGGAGAAGGATCTGAAGGAAAACAGGGAAGAGAACCCAGGACTGACATCCCCAGAGCCTCAGCTTCCAAAGAGTCCC
ACAGATCTGGTGAGAGCAAAGGAGGGGAAGGACCCCCCAAAAATAGCCTCTGTGGAAAATGTGGATGCTGACACACCTTCTGCCTGCGTTGTGGAGAGAGAAGCTTCGACTCACAGCGGGAACAGAGG
AGACGCTCTGAATCTGAGCAGTCCCAAAAGAAGCAAACCAGATGCCTCCTCCATTTCCCAAGAAGAGCCTCAAGGAGAAGCCACACCTGTGGGCAACAGAGAATCCCCGGGACAAGCTGGGATGAATT
CAATTCATTCCCCAGGCCCTGCGAGCCCAGTCAGTCACCCGGATGGCCAAGAAGCCAAGGCACTGCCGCCCTTTGCATGTGACGTGTGCGAGAAGAGGTTTACGTGTAATTCCAAGCTAGTCATCCAC
AAGAGATCACACACAGGCGAGAGACTCTTTCAATGTAATCTCTGTGGGAAGCGCTTCATGCAGCTTATTAGCCTCCAATTTCACCAGCGAACCCACACTGGCGAGAGGCCCTACACGTGTGACGTCTG
CCAGAAGCAGTTCACCCAGAAGTCCTACTTGAAGTGTCACAAGAGAAGCCACACAGGGGAGAAGCCCTTCGAATGTAAAGACTGCAAGAAAGTTTTCACCTACAGGGGGAGCCTGAAGGAGCACCAGC
GCATCCACTCCGGAGAGAAACCCTACAAATGTTCCAAGTGTCCAAGAGCCTTCAGTCGGCTGAAATTGTTAAGACGCCACCAGAAAACACATCCAGAAGCTACTTCTCAGTGATTGCATAATCCGGTC
TATGCCTTCTGCACCAAGAAGAAGTGAATGATATTTTTCATCAATGTTATCAGATGACATTTGACACATGCAAGGGCGTCTGACACACAGAGGGAGTGCCCTAGATATGAATTGCCAGGATGTTTGAG
TAAATATGTGTCCTCCCCACTGAGCTTTGTTTTCTGTTTCATTATGTCCATTGTTTTCTTATAGGTTTATTTTGGTTTGTGTTGCTGTTCTTCCAATAAACGATCATCTTATTAGTTTTCAATATTGT
A

hide sequence

RefSeq Acc Id:

NM_001387853 ⟹ NP_001374782

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	56,221,303 - 56,314,839 (-)	NCBI
T2T-CHM13v2.0	19	59,320,082 - 59,412,560 (-)	NCBI

Sequence:

show sequence

AATGTGAATGCGACAAGTTCCCGATCCAGGCGTCCCGCTCTCCCCGGCCCCACTCGCCAGGTCC
TACCACGATGCCTGACTCGTTTGCGGCTTTGGGACCGGTTGTAGGTGGCTTGACCGTCACTAGTAGACGTTTCTGAGTGTGTCGCGGTCACCATGGTAACGACTTTAGCTTCCCTTCCGCCCTTGCGG
TGACGTCACTGGCGGAGGCCGGACTGGGGGGAGGTTCCCTGCTCAAGCTCTCTTCTCTTGTCTGCTGCCATGTGAGACGTGCCTTTGACCTTCTGCCATGATTGTGAGGCCTCCCCAGCCACGTGAAA
CTACTTCTGAATGAACAGTGAATCTATTACTGAGGAAAACCAGAGGAAGCCTGTGTAGATAGGTATCAATTAGATACCAGCTACTGGAAGAGCTTTCTCAGAGACTGATTAAAAAATTCTCCACTAGA
TATGGCTGCAAATTGCACATCCTCATGGAGTCTAGGAGAATCCTGCAACAGACCTGGGTTGGAGCTGCCACGGTCTATGGCATCCTCAGAAACTCAACTTGGAAATCACGACGTGGACCCTGAGATTT
CTCACGTGAACTTCAGGATGTTCAGCTGCCCGAAGGAGTCGGACCCCATCCAGGCTCTGAGGAAACTCACTGAGCTGTGCCATCTGTGGCTGAGGCCCGACCTCCACACCAAAGAGCAGATCCTGGAC
ATGCTGGTGATGGAGCAGTTCATGATCTCCATGCCCCAGGAGCTCCAGGTCTTAGTCATGATGAACGGTGTGCAGAGCTGCAAAGACCTGGAGGACCTGCTACGAAATAACAGAAGACCCAAGAAATG
GTCTGTGGTCACCTTCCACGGAAAGGAATATATTGTGCAGGACTCAGATATCGAGATGGCTGAAGCCCCCTCCAGTGTCAGAGATGATCTGAAAGACGTGTCCAGCCAACGGGCCTCCTCGGTGAACC
AGATGCGTCCAGGGGAAGGCCAGGCCCACCGAGAGCTGCAGATCCTGCCCAGGGTCCCTGCATTGTCCAGGAGGCAGGGAGAGGACTTTCTGCTACACAAGAGTATTGACGTAACAGGTGACCCAAAG
TCTCTGAGACCCAAGCAGACCTTGGAGAAGGATCTGAAGGAAAACAGGGAAGAGAACCCAGGACTGACATCCCCAGAGCCTCAGCTTCCAAAGAGTCCCACAGATCTGGTGAGAGCAAAGGAGGGGAA
GGACCCCCCAAAAATAGCCTCTGTGGAAAATGTGGATGCTGACACACCTTCTGCCTGCGTTGTGGAGAGAGAAGCTTCGACTCACAGCGGGAACAGAGGAGACGCTCTGAATCTGAGCAGTCCCAAAA
GAAGCAAACCAGATGCCTCCTCCATTTCCCAAGAAGAGCCTCAAGGAGAAGCCACACCTGTGGGCAACAGAGAATCCCCGGGACAAGCTGGGATGAATTCAATTCATTCCCCAGGCCCTGCGAGCCCA
GTCAGTCACCCGGATGGCCAAGAAGCCAAGGCACTGCCGCCCTTTGCATGTGACGTGTGCGAGAAGAGGTTTACGTGTAATTCCAAGCTAGTCATCCACAAGAGATCACACACAGGCGAGAGACTCTT
TCAATGTAATCTCTGTGGGAAGCGCTTCATGCAGCTTATTAGCCTCCAATTTCACCAGCGAACCCACACTGGCGAGAGGCCCTACACGTGTGACGTCTGCCAGAAGCAGTTCACCCAGAAGTCCTACT
TGAAGTGTCACAAGAGAAGCCACACAGGGGAGAAGCCCTTCGAATGTAAAGACTGCAAGAAAGTTTTCACCTACAGGGGGAGCCTGAAGGAGCACCAGCGCATCCACTCCGGAGAGAAACCCTACAAA
TGTTCCAAGTGTCCAAGAGCCTTCAGTCGGCTGAAATTGTTAAGACGCCACCAGAAAACACATCCAGAAGCTACTTCTCAGTGATTGCATAATCCGGTCTATGCCTTCTGCACCAAGAAGAAGTGAAT
GATATTTTTCATCAATGTTATCAGATGACATTTGACACATGCAAGGGCGTCTGACACACAGAGGGAGTGCCCTAGATATGAATTGCCAGGATGTTTGAGTAAATATGTGTCCTCCCCACTGAGCTTTG
TTTTCTGTTTCATTATGTCCATTGTTTTCTTATAGGTTTATTTTGGTTTGTGTTGCTGTTCTTCCAATAAACGATCATCTTATTAGTTTTCAATATTGTA

hide sequence

RefSeq Acc Id:

NM_001387854 ⟹ NP_001374783

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	56,221,303 - 56,314,839 (-)	NCBI
T2T-CHM13v2.0	19	59,320,082 - 59,412,560 (-)	NCBI

Sequence:

show sequence

AATGTGAATGCGACAAGTTCCCGATCCAGGCGTCCCGCTCTCCCCGGCCCCACTCGCCAGGTCCTACCACGATGCCTGACTCGTTTGCGGCTTTGGGACCGGTTGTAGGTGGCTTGACCGTCACTAGT
AGACGTTTCTGAGTGTGTCGCGGTCACCATGGTAACGACTTTAGCTTCCCTTCCGCCCTTGCGGTGACGTCACTGGCGGAGGCCGGACTGGGGGGAGGTTCCCTGCTCAAGCTCTCTTCTCTTGTCTG
CTGCCATGTGAGACGTGCCTTTGACCTTCTGCCATGATTGTGAGGCCTCCCCAGCCACGTGAAACTATATGGCTGCAAATTGCACATCCTCATGGAGTCTAGGAGAATCCTGCAACAGACCTGGGTTG
GAGCTGCCACGGTCTATGGCATCCTCAGAAACTCAACTTGGAAATCACGACGTGGACCCTGAGATTTCTCACGTGAACTTCAGGATGTTCAGCTGCCCGAAGGAGTCGGACCCCATCCAGGCTCTGAG
GAAACTCACTGAGCTGTGCCATCTGTGGCTGAGGCCCGACCTCCACACCAAAGAGCAGATCCTGGACATGCTGGTGATGGAGCAGTTCATGATCTCCATGCCCCAGGAGCTCCAGGTCTTAGTCATGA
TGAACGGTGTGCAGAGCTGCAAAGACCTGGAGGACCTGCTACGAAATAACAGAAGACCCAAGAAATGGTCTGTGGTCACCTTCCACGGAAAGGAATATATTGTGCAGGACTCAGATATCGAGATGGCT
GAAGCCCCCTCCAGTGTCAGAGATGATCTGAAAGACGTGTCCAGCCAACGGGCCTCCTCGGTGAACCAGATGCGTCCAGGGGAAGGCCAGGCCCACCGAGAGCTGCAGATCCTGCCCAGGGTCCCTGC
ATTGTCCAGGAGGCAGGGAGAGGACTTTCTGCTACACAAGAGTATTGACGTAACAGGTGACCCAAAGTCTCTGAGACCCAAGCAGACCTTGGAGAAGGATCTGAAGGAAAACAGGGAAGAGAACCCAG
GACTGACATCCCCAGAGCCTCAGCTTCCAAAGAGTCCCAATCTGGTGAGAGCAAAGGAGGGGAAGGACCCCCCAAAAATAGCCTCTGTGGAAAATGTGGATGCTGACACACCTTCTGCCTGCGTTGTG
GAGAGAGAAGCTTCGACTCACAGCGGGAACAGAGGAGACGCTCTGAATCTGAGCAGTCCCAAAAGAAGCAAACCAGATGCCTCCTCCATTTCCCAAGAAGAGCCTCAAGGAGAAGCCACACCTGTGGG
CAACAGAGAATCCCCGGGACAAGCTGGGATGAATTCAATTCATTCCCCAGGCCCTGCGAGCCCAGTCAGTCACCCGGATGGCCAAGAAGCCAAGGCACTGCCGCCCTTTGCATGTGACGTGTGCGAGA
AGAGGTTTACGTGTAATTCCAAGCTAGTCATCCACAAGAGATCACACACAGGCGAGAGACTCTTTCAATGTAATCTCTGTGGGAAGCGCTTCATGCAGCTTATTAGCCTCCAATTTCACCAGCGAACC
CACACTGGCGAGAGGCCCTACACGTGTGACGTCTGCCAGAAGCAGTTCACCCAGAAGTCCTACTTGAAGTGTCACAAGAGAAGCCACACAGGGGAGAAGCCCTTCGAATGTAAAGACTGCAAGAAAGT
TTTCACCTACAGGGGGAGCCTGAAGGAGCACCAGCGCATCCACTCCGGAGAGAAACCCTACAAATGTTCCAAGTGTCCAAGAGCCTTCAGTCGGCTGAAATTGTTAAGACGCCACCAGAAAACACATC
CAGAAGCTACTTCTCAGTGATTGCATAATCCGGTCTATGCCTTCTGCACCAAGAAGAAGTGAATGATATTTTTCATCAATGTTATCAGATGACATTTGACACATGCAAGGGCGTCTGACACACAGAGG
GAGTGCCCTAGATATGAATTGCCAGGATGTTTGAGTAAATATGTGTCCTCCCCACTGAGCTTTGTTTTCTGTTTCATTATGTCCATTGTTTTCTTATAGGTTTATTTTGGTTTGTGTTGCTGTTCTTC
CAATAAACGATCATCTTATTAGTTTTCAATATTGTA

hide sequence

RefSeq Acc Id:

NM_001387855 ⟹ NP_001374784

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	56,221,303 - 56,314,839 (-)	NCBI
T2T-CHM13v2.0	19	59,320,082 - 59,412,560 (-)	NCBI

Sequence:

show sequence

AATGTGAATGCGACAAGTTCCCGATCCAGGCGTCCCGCTCTCCCCGGCCCCACTCGCCAGGTCC
TACCACGATGCCTGACTCGTTTGCGGCTTTGGGACCGGTTGTAGGTGGCTTGACCGTCACTAGTAGACGTTTCTGAGTGTGTCGCGGTCACCATGACTTCCTTTCACGCCTGTCGCCAGGTTAACTAG
GTCACTGTTTGCTCTCAGGAGCAACCCTGCCTCCCGCAGTTCGCTTGGTCCTTGATTACAGGGGAGGTTCCCTGCTCAAGCTCTCTTCTCTTGTCTGCTGCCATGTGAGACGTGCCTTTGACCTTCTG
CCATGATTGTGAGGCCTCCCCAGCCACGTGAAACTATATGGCTGCAAATTGCACATCCTCATGGAGTCTAGGAGAATCCTGCAACAGACCTGGGTTGGAGCTGCCACGGTCTATGGCATCCTCAGAAA
CTCAACTTGGAAATCACGACGTGGACCCTGAGATTTCTCACGTGAACTTCAGGATGTTCAGCTGCCCGAAGGAGTCGGACCCCATCCAGGCTCTGAGGAAACTCACTGAGCTGTGCCATCTGTGGCTG
AGGCCCGACCTCCACACCAAAGAGCAGATCCTGGACATGCTGGTGATGGAGCAGTTCATGATCTCCATGCCCCAGGAGCTCCAGGTCTTAGTCATGATGAACGGTGTGCAGAGCTGCAAAGACCTGGA
GGACCTGCTACGAAATAACAGAAGACCCAAGAAATGGTCTGTGGTCACCTTCCACGGAAAGGAATATATTGTGCAGGACTCAGATATCGAGATGGCTGAAGCCCCCTCCAGTGTCAGAGATGATCTGA
AAGACGTGTCCAGCCAACGGGCCTCCTCGGTGAACCAGATGCGTCCAGGGGAAGGCCAGGCCCACCGAGAGCTGCAGATCCTGCCCAGGGTCCCTGCATTGTCCAGGAGGCAGGGAGAGGACTTTCTG
CTACACAAGAGTATTGACGTAACAGGTGACCCAAAGTCTCTGAGACCCAAGCAGACCTTGGAGAAGGATCTGAAGGAAAACAGGGAAGAGAACCCAGGACTGACATCCCCAGAGCCTCAGCTTCCAAA
GAGTCCCAATCTGGTGAGAGCAAAGGAGGGGAAGGACCCCCCAAAAATAGCCTCTGTGGAAAATGTGGATGCTGACACACCTTCTGCCTGCGTTGTGGAGAGAGAAGCTTCGACTCACAGCGGGAACA
GAGGAGACGCTCTGAATCTGAGCAGTCCCAAAAGAAGCAAACCAGATGCCTCCTCCATTTCCCAAGAAGAGCCTCAAGGAGAAGCCACACCTGTGGGCAACAGAGAATCCCCGGGACAAGCTGGGATG
AATTCAATTCATTCCCCAGGCCCTGCGAGCCCAGTCAGTCACCCGGATGGCCAAGAAGCCAAGGCACTGCCGCCCTTTGCATGTGACGTGTGCGAGAAGAGGTTTACGTGTAATTCCAAGCTAGTCAT
CCACAAGAGATCACACACAGGCGAGAGACTCTTTCAATGTAATCTCTGTGGGAAGCGCTTCATGCAGCTTATTAGCCTCCAATTTCACCAGCGAACCCACACTGGCGAGAGGCCCTACACGTGTGACG
TCTGCCAGAAGCAGTTCACCCAGAAGTCCTACTTGAAGTGTCACAAGAGAAGCCACACAGGGGAGAAGCCCTTCGAATGTAAAGACTGCAAGAAAGTTTTCACCTACAGGGGGAGCCTGAAGGAGCAC
CAGCGCATCCACTCCGGAGAGAAACCCTACAAATGTTCCAAGTGTCCAAGAGCCTTCAGTCGGCTGAAATTGTTAAGACGCCACCAGAAAACACATCCAGAAGCTACTTCTCAGTGATTGCATAATCC
GGTCTATGCCTTCTGCACCAAGAAGAAGTGAATGATATTTTTCATCAATGTTATCAGATGACATTTGACACATGCAAGGGCGTCTGACACACAGAGGGAGTGCCCTAGATATGAATTGCCAGGATGTT
TGAGTAAATATGTGTCCTCCCCACTGAGCTTTGTTTTCTGTTTCATTATGTCCATTGTTTTCTTATAGGTTTATTTTGGTTTGTGTTGCTGTTCTTCCAATAAACGATCATCTTATTAGTTTTCAATA
TTGTA

hide sequence

RefSeq Acc Id:

NM_001387856 ⟹ NP_001374785

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	56,221,303 - 56,314,839 (-)	NCBI
T2T-CHM13v2.0	19	59,320,082 - 59,412,560 (-)	NCBI

Sequence:

show sequence

AATGTGAATGCGACAAGTTCCCGATCCAGGCGTCCCGCTCTCCCCGGCCCCACTCGCCAGGTCC
TACCACGATGCCTGACTCGTTTGCGGCTTTGGGACCGGTTGTAGGTGGCTTGACCGTCACTAGTAGACGTTTCTGAGTGTGTCGCGGTCACCATGGTAACGACTTTAGCTTCCCTTCCGCCCTTGCGG
TGACGTCACTGGCGGAGGCCGGACTGGGGGGAGGTTCCCTGCTCAAGCTCTCTTCTCTTGTCTGCTGCCATGTGAGACGTGCCTTTGACCTTCTGCCATGATTGTGAGGCCTCCCCAGCCACGTGAAA
CTACTTCTGAATGAACAGTGAATCTATTACTGAGGAAAACCAGAGGAAGCCTGTGTAGATAGGTATCAATTAGATACCAGCTACTGGAAGAGCTTTCTCAGAGACTGATTAAAAAATTCTCCACTAGA
TATGGCTGCAAATTGCACATCCTCATGGAGTCTAGGAGAATCCTGCAACAGACCTGGGTTGGAGCTGCCACGGTCTATGGCATCCTCAGAAACTCAACTTGGAAATCACGACGTGGACCCTGAGATTT
CTCACGTGAACTTCAGGATGTTCAGCTGCCCGAAGGAGTCGGACCCCATCCAGGCTCTGAGGAAACTCACTGAGCTGTGCCATCTGTGGCTGAGGCCCGACCTCCACACCAAAGAGCAGATCCTGGAC
ATGCTGGTGATGGAGCAGTTCATGATCTCCATGCCCCAGGAGCTCCAGGTCTTAGTCATGATGAACGGTGTGCAGAGCTGCAAAGACCTGGAGGACCTGCTACGAAATAACAGAAGACCCAAGAAATG
GTCTGTGGTCACCTTCCACGGAAAGGAATATATTGTGCAGGACTCAGATATCGAGATGGCTGAAGCCCCCTCCAGTGTCAGAGATGATCTGAAAGACGTGTCCAGCCAACGGGCCTCCTCGGTGAACC
AGATGCGTCCAGGGGAAGGCCAGGCCCACCGAGAGCTGCAGATCCTGCCCAGGGTCCCTGCATTGTCCAGGAGGCAGGGAGAGGACTTTCTGCTACACAAGAGTATTGACGTAACAGGTGACCCAAAG
TCTCTGAGACCCAAGCAGACCTTGGAGAAGGATCTGAAGGAAAACAGGGAAGAGAACCCAGGACTGACATCCCCAGAGCCTCAGCTTCCAAAGAGTCCCAATCTGGTGAGAGCAAAGGAGGGGAAGGA
CCCCCCAAAAATAGCCTCTGTGGAAAATGTGGATGCTGACACACCTTCTGCCTGCGTTGTGGAGAGAGAAGCTTCGACTCACAGCGGGAACAGAGGAGACGCTCTGAATCTGAGCAGTCCCAAAAGAA
GCAAACCAGATGCCTCCTCCATTTCCCAAGAAGAGCCTCAAGGAGAAGCCACACCTGTGGGCAACAGAGAATCCCCGGGACAAGCTGGGATGAATTCAATTCATTCCCCAGGCCCTGCGAGCCCAGTC
AGTCACCCGGATGGCCAAGAAGCCAAGGCACTGCCGCCCTTTGCATGTGACGTGTGCGAGAAGAGGTTTACGTGTAATTCCAAGCTAGTCATCCACAAGAGATCACACACAGGCGAGAGACTCTTTCA
ATGTAATCTCTGTGGGAAGCGCTTCATGCAGCTTATTAGCCTCCAATTTCACCAGCGAACCCACACTGGCGAGAGGCCCTACACGTGTGACGTCTGCCAGAAGCAGTTCACCCAGAAGTCCTACTTGA
AGTGTCACAAGAGAAGCCACACAGGGGAGAAGCCCTTCGAATGTAAAGACTGCAAGAAAGTTTTCACCTACAGGGGGAGCCTGAAGGAGCACCAGCGCATCCACTCCGGAGAGAAACCCTACAAATGT
TCCAAGTGTCCAAGAGCCTTCAGTCGGCTGAAATTGTTAAGACGCCACCAGAAAACACATCCAGAAGCTACTTCTCAGTGATTGCATAATCCGGTCTATGCCTTCTGCACCAAGAAGAAGTGAATGAT
ATTTTTCATCAATGTTATCAGATGACATTTGACACATGCAAGGGCGTCTGACACACAGAGGGAGTGCCCTAGATATGAATTGCCAGGATGTTTGAGTAAATATGTGTCCTCCCCACTGAGCTTTGTTT
TCTGTTTCATTATGTCCATTGTTTTCTTATAGGTTTATTTTGGTTTGTGTTGCTGTTCTTCCAATAAACGATCATCTTATTAGTTTTCAATATTGTA

hide sequence

RefSeq Acc Id:

NM_001387857 ⟹ NP_001374786

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	56,221,303 - 56,314,839 (-)	NCBI
T2T-CHM13v2.0	19	59,320,082 - 59,412,560 (-)	NCBI

Sequence:

show sequence

AATGTGAATGCGACAAGTTCCCGATCCAGGCGTCCCGCTCTCCCCGGCCCCACTCGCCAGGTCCTACCACGATGCCTGACTCGTTTGCGGCTTTGGGACCGGTTGTAGGTGGCTTGACCGTCACTAGT
AGACGTTTCTGAGTGTGTCGCGGTCACCATGGTAACGACTTTAGCTTCCCTTCCGCCCTTGCGGTGACGTCACTGGCGGAGGCCGGACTGGGGGGAGGTTCCCTGCTCAAGCTCTCTTCTCTTGTCTG
CTGCCATGTGAGACGTGCCTTTGACCTTCTGCCATGATTGTGAGGCCTCCCCAGCCACGTGAAACTATATGGCTGCAAATTGCACATCCTCATGGAGTCTAGGAGAATCCTGCAACAGACCTGGGTTG
GAGCTGCCACGGTCTATGGCATCCTCAGAAACTCAACTTGGAAATCACGACGTGGACCCTGAGATTTCTCACGTGAACTTCAGGATGTTCAGCTGCCCGAAGGAGTCGGACCCCATCCAGGCTCTGAG
GAAACTCACTGAGCTGTGCCATCTGTGGCTGAGGCCCGACCTCCACACCAAAGAGCAGATCCTGGACATGCTGGTGATGGAGCAGTTCATGATCTCCATGCCCCAGGAGCTCCAGGTCTTAGTCATGA
TGAACGGTGTGCAGAGCTGCAAAGACCTGGAGGACCTGCTACGAAATAACAGAAGACCCAAGAAATGGTCTGTGGTCACCTTCCACGGAAAGGAATATATTGTGCAGGACTCAGATATCGAGATGGCT
GAAGCCCCCTCCAGTGTCAGAGATGATCTGAAAGACGTGTCCAGCCAACGGGCCTCCTCGGTGAACCAGATGCGTCCAGGGGAAGGCCAGGCCCACCGAGAGCTGCAGATCCTGCCCAGGGTCCCTGC
ATTGTCCAGGAGGCAGGGAGAGGACTTTCTGCTACACAAGAGTATTGACGTAACAGGTGACCCAAAGTCTCTGAGACCCAAGCAGACCTTGGAGAAGGATCTGAAGGAAAACAGGGAAGAGAACCCAG
GACTGACATCCCCAGAGCCTCAGCTTCCAAAGAGTCCCACAGATCTGGTGAGAGCAAAGGAGGGGAAGGACCCCCCAAAAATAGCCTCTGTGGAAAATGTGGATGCTGACACACCTTCTGCCTGCGTT
GTGGAGAGAGAAGCTTCGACTCACAGCGGGAACAGAGGAGACGCTCTGAATCTGAGCAGTCCCAAAAGAAGCAAACCAGATGCCTCCTCCATTTCCCAAGAAGAGCCTCAAGGAGAAGCCACACCTGT
GGGCAACAGAGAATCCCCGGGACAAGCTGGGATGAATTCAATTCATTCCCCAGGCCCTGCGAGCCCAGTCAGTCACCCGGATGGCCAAGAAGCCAAGGCACTGCCGCCCTTTGCATGTGACGTGTGCG
AGAAGAGGTTTACGTGTAATTCCAAGCTAGTCATCCACAAGAGATCACACACAGGCGAGAGACTCTTTCAATGTAATCTCTGTGGGAAGCGCTTCATGCAGCTTATTAGCCTCCAATTTCACCAGCGA
ACCCACACTGGCGAGAGGCCCTACACGTGTGACGTCTGCCAGAAGCAGTTCACCCAGAAGTCCTACTTGAAGTGTCACAAGAGAAGCCACACAGGGGAGAAGCCCTTCGAATGTAAAGACTGCAAGAA
AGTTTTCACCTACAGGGGGAGCCTGAAGGAGCACCAGCGCATCCACTCCGGAGAGAAACCCTACAAATGTTCCAAGTGTCCAAGAGCCTTCAGTCGGCTGAAATTGTTAAGACGCCACCAGAAAACAC
ATCCAGAAGCTACTTCTCAGTGATTGCATAATCCGGTCTATGCCTTCTGCACCAAGAAGAAGTGAATGATATTTTTCATCAATGTTATCAGATGACATTTGACACATGCAAGGGCGTCTGACACACAG
AGGGAGTGCCCTAGATATGAATTGCCAGGATGTTTGAGTAAATATGTGTCCTCCCCACTGAGCTTTGTTTTCTGTTTCATTATGTCCATTGTTTTCTTATAGGTTTATTTTGGTTTGTGTTGCTGTTC
TTCCAATAAACGATCATCTTATTAGTTTTCAATATTGTA

hide sequence

RefSeq Acc Id:

NM_001387858 ⟹ NP_001374787

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	56,221,303 - 56,314,562 (-)	NCBI
T2T-CHM13v2.0	19	59,320,082 - 59,412,283 (-)	NCBI

Sequence:

show sequence

AGATTCGTGGGAGGACCGAGCCCGGGGATGGGACTGGAGGAGTTTCCGTGACCTTGCGGGCTGT
TTGTGCTGAGGGACAGCTTTATTTAAATAATAATATGCGTGCAGGCGCCCTGCATGATTCCTGGCCGCGTGCTTTCTAGGGAGGTTCCCTGCTCAAGCTCTCTTCTCTTGTCTGCTGCCATGTGAGAC
GTGCCTTTGACCTTCTGCCATGATTGTGAGGCCTCCCCAGCCACGTGAAACTATATGGCTGCAAATTGCACATCCTCATGGAGTCTAGGAGAATCCTGCAACAGACCTGGGTTGGAGCTGCCACGGTC
TATGGCATCCTCAGAAACTCAACTTGGAAATCACGACGTGGACCCTGAGATTTCTCACGTGAACTTCAGGATGTTCAGCTGCCCGAAGGAGTCGGACCCCATCCAGGCTCTGAGGAAACTCACTGAGC
TGTGCCATCTGTGGCTGAGGCCCGACCTCCACACCAAAGAGCAGATCCTGGACATGCTGGTGATGGAGCAGTTCATGATCTCCATGCCCCAGGAGCTCCAGGTCTTAGTCATGATGAACGGTGTGCAG
AGCTGCAAAGACCTGGAGGACCTGCTACGAAATAACAGAAGACCCAAGAAATGGTCTGTGGTCACCTTCCACGGAAAGGAATATATTGTGCAGGACTCAGATATCGAGATGGCTGAAGCCCCCTCCAG
TGTCAGAGATGATCTGAAAGACGTGTCCAGCCAACGGGCCTCCTCGGTGAACCAGATGCGTCCAGGGGAAGGCCAGGCCCACCGAGAGCTGCAGATCCTGCCCAGGGTCCCTGCATTGTCCAGGAGGC
AGGGAGAGGACTTTCTGCTACACAAGAGTATTGACGTAACAGGTGACCCAAAGTCTCTGAGACCCAAGCAGACCTTGGAGAAGGATCTGAAGGAAAACAGGGAAGAGAACCCAGGACTGACATCCCCA
GAGCCTCAGCTTCCAAAGAGTCCCAATCTGGTGAGAGCAAAGGAGGGGAAGGACCCCCCAAAAATAGCCTCTGTGGAAAATGTGGATGCTGACACACCTTCTGCCTGCGTTGTGGAGAGAGAAGCTTC
GACTCACAGCGGGAACAGAGGAGACGCTCTGAATCTGAGCAGTCCCAAAAGAAGCAAACCAGATGCCTCCTCCATTTCCCAAGAAGAGCCTCAAGGAGAAGCCACACCTGTGGGCAACAGAGAATCCC
CGGGACAAGCTGGGATGAATTCAATTCATTCCCCAGGCCCTGCGAGCCCAGTCAGTCACCCGGATGGCCAAGAAGCCAAGGCACTGCCGCCCTTTGCATGTGACGTGTGCGAGAAGAGGTTTACGTGT
AATTCCAAGCTAGTCATCCACAAGAGATCACACACAGGCGAGAGACTCTTTCAATGTAATCTCTGTGGGAAGCGCTTCATGCAGCTTATTAGCCTCCAATTTCACCAGCGAACCCACACTGGCGAGAG
GCCCTACACGTGTGACGTCTGCCAGAAGCAGTTCACCCAGAAGTCCTACTTGAAGTGTCACAAGAGAAGCCACACAGGGGAGAAGCCCTTCGAATGTAAAGACTGCAAGAAAGTTTTCACCTACAGGG
GGAGCCTGAAGGAGCACCAGCGCATCCACTCCGGAGAGAAACCCTACAAATGTTCCAAGTGTCCAAGAGCCTTCAGTCGGCTGAAATTGTTAAGACGCCACCAGAAAACACATCCAGAAGCTACTTCT
CAGTGATTGCATAATCCGGTCTATGCCTTCTGCACCAAGAAGAAGTGAATGATATTTTTCATCAATGTTATCAGATGACATTTGACACATGCAAGGGCGTCTGACACACAGAGGGAGTGCCCTAGATA
TGAATTGCCAGGATGTTTGAGTAAATATGTGTCCTCCCCACTGAGCTTTGTTTTCTGTTTCATTATGTCCATTGTTTTCTTATAGGTTTATTTTGGTTTGTGTTGCTGTTCTTCCAATAAACGATCAT
CTTATTAGTTTTCAATATTGTA

hide sequence

RefSeq Acc Id:

NM_001387859 ⟹ NP_001374788

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	56,221,303 - 56,314,345 (-)	NCBI
T2T-CHM13v2.0	19	59,320,082 - 59,412,066 (-)	NCBI

Sequence:

show sequence

AGACTTCCTTTCACGCCTGTCGCCAGGTTAACTAGGTCACTGTTTGCTCTCAGGAGCAACCCTG
CCTCCCGCAGTTCGCTTGGTCCTTGATTACAGGGGAGGTTCCCTGCTCAAGCTCTCTTCTCTTGTCTGCTGCCATGTGAGACGTGCCTTTGACCTTCTGCCATGATTGTGAGGCCTCCCCAGCCACGT
GAAACTTGGGAACCATAATCAACGCCGATTACGTAAAATGGACTCTATGGCCCTAAACCAATCACGGGGCGGCGCAGGGAACCGGAAACGCGGCCTGGAGTCCCGCTTCTCCATAAATAGACGCAGTT
CAGCTCCAGGCCGGTTGGAGAGCGCATCCCAGACCGAGAAGGTCGGAGGCAGAAGCCGGGAAGGAGACTTCTGAATGAACAGTGAATCTATTACTGAGGAAAACCAGAGGAAGCCTGTGTAGATAGGT
ATCAATTAGATACCAGCTACTGGAAGAGCTTTCTCAGAGACTGATTAAAAAATTCTCCACTAGATATGGCTGCAAATTGCACATCCTCATGGAGTCTAGGAGAATCCTGCAACAGACCTGGGTTGGAG
CTGCCACGGTCTATGGCATCCTCAGAAACTCAACTTGGAAATCACGACGTGGACCCTGAGATTTCTCACGTGAACTTCAGGATGTTCAGCTGCCCGAAGGAGTCGGACCCCATCCAGGCTCTGAGGAA
ACTCACTGAGCTGTGCCATCTGTGGCTGAGGCCCGACCTCCACACCAAAGAGCAGATCCTGGACATGCTGGTGATGGAGCAGTTCATGATCTCCATGCCCCAGGAGCTCCAGGTCTTAGTCATGATGA
ACGGTGTGCAGAGCTGCAAAGACCTGGAGGACCTGCTACGAAATAACAGAAGACCCAAGAAATGGTCTGTGGTCACCTTCCACGGAAAGGAATATATTGTGCAGGACTCAGATATCGAGATGGCTGAA
GCCCCCTCCAGTGTCAGAGATGATCTGAAAGACGTGTCCAGCCAACGGGCCTCCTCGGTGAACCAGATGCGTCCAGGGGAAGGCCAGGCCCACCGAGAGCTGCAGATCCTGCCCAGGGTCCCTGCATT
GTCCAGGAGGCAGGGAGAGGACTTTCTGCTACACAAGAGTATTGACGTAACAGGTGACCCAAAGTCTCTGAGACCCAAGCAGACCTTGGAGAAGGATCTGAAGGAAAACAGGGAAGAGAACCCAGGAC
TGACATCCCCAGAGCCTCAGCTTCCAAAGAGTCCCACAGATCTGGTGAGAGCAAAGGAGGGGAAGGACCCCCCAAAAATAGCCTCTGTGGAAAATGTGGATGCTGACACACCTTCTGCCTGCGTTGTG
GAGAGAGAAGCTTCGACTCACAGCGGGAACAGAGGAGACGCTCTGAATCTGAGCAGTCCCAAAAGAAGCAAACCAGATGCCTCCTCCATTTCCCAAGAAGAGCCTCAAGGAGAAGCCACACCTGTGGG
CAACAGAGAATCCCCGGGACAAGCTGGGATGAATTCAATTCATTCCCCAGGCCCTGCGAGCCCAGTCAGTCACCCGGATGGCCAAGAAGCCAAGGCACTGCCGCCCTTTGCATGTGACGTGTGCGAGA
AGAGGTTTACGTGTAATTCCAAGCTAGTCATCCACAAGAGATCACACACAGGCGAGAGACTCTTTCAATGTAATCTCTGTGGGAAGCGCTTCATGCAGCTTATTAGCCTCCAATTTCACCAGCGAACC
CACACTGGCGAGAGGCCCTACACGTGTGACGTCTGCCAGAAGCAGTTCACCCAGAAGTCCTACTTGAAGTGTCACAAGAGAAGCCACACAGGGGAGAAGCCCTTCGAATGTAAAGACTGCAAGAAAGT
TTTCACCTACAGGGGGAGCCTGAAGGAGCACCAGCGCATCCACTCCGGAGAGAAACCCTACAAATGTTCCAAGTGTCCAAGAGCCTTCAGTCGGCTGAAATTGTTAAGACGCCACCAGAAAACACATC
CAGAAGCTACTTCTCAGTGATTGCATAATCCGGTCTATGCCTTCTGCACCAAGAAGAAGTGAATGATATTTTTCATCAATGTTATCAGATGACATTTGACACATGCAAGGGCGTCTGACACACAGAGG
GAGTGCCCTAGATATGAATTGCCAGGATGTTTGAGTAAATATGTGTCCTCCCCACTGAGCTTTGTTTTCTGTTTCATTATGTCCATTGTTTTCTTATAGGTTTATTTTGGTTTGTGTTGCTGTTCTTC
CAATAAACGATCATCTTATTAGTTTTCAATATTGTA

hide sequence

RefSeq Acc Id:

NM_024303 ⟹ NP_077279

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	56,221,303 - 56,230,401 (-)	NCBI
GRCh37	19	56,732,672 - 56,826,208 (-)	NCBI
Build 36	19	61,424,491 - 61,431,471 (-)	NCBI Archive
Celera	19	53,776,367 - 53,783,348 (-)	RGD
HuRef	19	53,042,474 - 53,049,455 (-)	ENTREZGENE
CHM1_1	19	56,726,243 - 56,735,339 (-)	NCBI
T2T-CHM13v2.0	19	59,320,082 - 59,329,180 (-)	NCBI

Sequence:

show sequence

TTAATAATAATATGTTGGGGCCGGGTATGGTGGCTCATGCCTGTAATCCCGGCACTTTGGGAGG
CCGAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGGCAAGATGTGGGAACCATAATCAACGCCGATTACGTAAAATGGACTCTATGGCCCTAAACCAATCACGGGGCGGCGCAGGGAA
CCGGAAACGCGGCCTGGAGTCCCGCTTCTCCATAAATAGACGCAGTTCAGCTCCAGGCCGGTTGGAGAGCGCATCCCAGACCGAGAAGGTCGGAGGCAGAAGCCGGGAAGGAGACTTCTGAATGAACA
GTGAATCTATTACTGAGGAAAACCAGAGGAAGCCTGTGTAGATAGGTATCAATTAGATACCAGCTACTGGAAGAGCTTTCTCAGAGACTGATTAAAAAATTCTCCACTAGATATGGCTGCAAATTGCA
CATCCTCATGGAGTCTAGGAGAATCCTGCAACAGACCTGGGTTGGAGCTGCCACGGTCTATGGCATCCTCAGAAACTCAACTTGGAAATCACGACGTGGACCCTGAGATTTCTCACGTGAACTTCAGG
ATGTTCAGCTGCCCGAAGGAGTCGGACCCCATCCAGGCTCTGAGGAAACTCACTGAGCTGTGCCATCTGTGGCTGAGGCCCGACCTCCACACCAAAGAGCAGATCCTGGACATGCTGGTGATGGAGCA
GTTCATGATCTCCATGCCCCAGGAGCTCCAGGTCTTAGTCATGATGAACGGTGTGCAGAGCTGCAAAGACCTGGAGGACCTGCTACGAAATAACAGAAGACCCAAGAAATGGTCTGTGGTCACCTTCC
ACGGAAAGGAATATATTGTGCAGGACTCAGATATCGAGATGGCTGAAGCCCCCTCCAGTGTCAGAGATGATCTGAAAGACGTGTCCAGCCAACGGGCCTCCTCGGTGAACCAGATGCGTCCAGGGGAA
GGCCAGGCCCACCGAGAGCTGCAGATCCTGCCCAGGGTCCCTGCATTGTCCAGGAGGCAGGGAGAGGACTTTCTGCTACACAAGAGTATTGACGTAACAGGTGACCCAAAGTCTCTGAGACCCAAGCA
GACCTTGGAGAAGGATCTGAAGGAAAACAGGGAAGAGAACCCAGGACTGACATCCCCAGAGCCTCAGCTTCCAAAGAGTCCCACAGATCTGGTGAGAGCAAAGGAGGGGAAGGACCCCCCAAAAATAG
CCTCTGTGGAAAATGTGGATGCTGACACACCTTCTGCCTGCGTTGTGGAGAGAGAAGCTTCGACTCACAGCGGGAACAGAGGAGACGCTCTGAATCTGAGCAGTCCCAAAAGAAGCAAACCAGATGCC
TCCTCCATTTCCCAAGAAGAGCCTCAAGGAGAAGCCACACCTGTGGGCAACAGAGAATCCCCGGGACAAGCTGGGATGAATTCAATTCATTCCCCAGGCCCTGCGAGCCCAGTCAGTCACCCGGATGG
CCAAGAAGCCAAGGCACTGCCGCCCTTTGCATGTGACGTGTGCGAGAAGAGGTTTACGTGTAATTCCAAGCTAGTCATCCACAAGAGATCACACACAGGCGAGAGACTCTTTCAATGTAATCTCTGTG
GGAAGCGCTTCATGCAGCTTATTAGCCTCCAATTTCACCAGCGAACCCACACTGGCGAGAGGCCCTACACGTGTGACGTCTGCCAGAAGCAGTTCACCCAGAAGTCCTACTTGAAGTGTCACAAGAGA
AGCCACACAGGGGAGAAGCCCTTCGAATGTAAAGACTGCAAGAAAGTTTTCACCTACAGGGGGAGCCTGAAGGAGCACCAGCGCATCCACTCCGGAGAGAAACCCTACAAATGTTCCAAGTGTCCAAG
AGCCTTCAGTCGGCTGAAATTGTTAAGACGCCACCAGAAAACACATCCAGAAGCTACTTCTCAGTGATTGCATAATCCGGTCTATGCCTTCTGCACCAAGAAGAAGTGAATGATATTTTTCATCAATG
TTATCAGATGACATTTGACACATGCAAGGGCGTCTGACACACAGAGGGAGTGCCCTAGATATGAATTGCCAGGATGTTTGAGTAAATATGTGTCCTCCCCACTGAGCTTTGTTTTCTGTTTCATTATG
TCCATTGTTTTCTTATAGGTTTATTTTGGTTTGTGTTGCTGTTCTTCCAATAAACGATCATCTTATTAGTTTTCAATATTGTA

hide sequence


Protein RefSeqs	NP_001308990	(Get FASTA)	NCBI Sequence Viewer
	NP_001308991	(Get FASTA)	NCBI Sequence Viewer
	NP_001308993	(Get FASTA)	NCBI Sequence Viewer
	NP_001308994	(Get FASTA)	NCBI Sequence Viewer
	NP_001308995	(Get FASTA)	NCBI Sequence Viewer
	NP_001308996	(Get FASTA)	NCBI Sequence Viewer
	NP_001308997	(Get FASTA)	NCBI Sequence Viewer
	NP_001308999	(Get FASTA)	NCBI Sequence Viewer
	NP_001309001	(Get FASTA)	NCBI Sequence Viewer
	NP_001309002	(Get FASTA)	NCBI Sequence Viewer
	NP_001309003	(Get FASTA)	NCBI Sequence Viewer
	NP_001309004	(Get FASTA)	NCBI Sequence Viewer
	NP_001309005	(Get FASTA)	NCBI Sequence Viewer
	NP_001309006	(Get FASTA)	NCBI Sequence Viewer
	NP_001309007	(Get FASTA)	NCBI Sequence Viewer
	NP_001374782	(Get FASTA)	NCBI Sequence Viewer
	NP_001374783	(Get FASTA)	NCBI Sequence Viewer
	NP_001374784	(Get FASTA)	NCBI Sequence Viewer
	NP_001374785	(Get FASTA)	NCBI Sequence Viewer
	NP_001374786	(Get FASTA)	NCBI Sequence Viewer
	NP_001374787	(Get FASTA)	NCBI Sequence Viewer
	NP_001374788	(Get FASTA)	NCBI Sequence Viewer
	NP_077279	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH02636	(Get FASTA)	NCBI Sequence Viewer
	AAH43232	(Get FASTA)	NCBI Sequence Viewer
	BAC05386	(Get FASTA)	NCBI Sequence Viewer
	BAD97205	(Get FASTA)	NCBI Sequence Viewer
	BAG63310	(Get FASTA)	NCBI Sequence Viewer
	EAW72433	(Get FASTA)	NCBI Sequence Viewer
	EAW72434	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000375593
	ENSP00000375593.1
	ENSP00000466445
	ENSP00000467238
	ENSP00000467631
	ENSP00000467631.1
	ENSP00000507065
	ENSP00000507065.1
GenBank Protein	Q9BUG6	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_077279 ⟸ NM_024303
- Peptide Label:	isoform b
- UniProtKB:	Q53F04 (UniProtKB/Swiss-Prot), Q49A73 (UniProtKB/Swiss-Prot), B4DX98 (UniProtKB/Swiss-Prot), Q8N7B3 (UniProtKB/Swiss-Prot), Q9BUG6 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAANCTSSWSLGESCNRPGLELPRSMASSETQLGNHDVDPEISHVNFRMFSCPKESDPIQALRKLTELCHLWLRPDLHTKEQILDMLVMEQFMISMPQELQVLVMMNGVQSCKDLEDLLRNNRRPKKW SVVTFHGKEYIVQDSDIEMAEAPSSVRDDLKDVSSQRASSVNQMRPGEGQAHRELQILPRVPALSRRQGEDFLLHKSIDVTGDPKSLRPKQTLEKDLKENREENPGLTSPEPQLPKSPTDLVRAKEGK DPPKIASVENVDADTPSACVVEREASTHSGNRGDALNLSSPKRSKPDASSISQEEPQGEATPVGNRESPGQAGMNSIHSPGPASPVSHPDGQEAKALPPFACDVCEKRFTCNSKLVIHKRSHTGERLF QCNLCGKRFMQLISLQFHQRTHTGERPYTCDVCQKQFTQKSYLKCHKRSHTGEKPFECKDCKKVFTYRGSLKEHQRIHSGEKPYKCSKCPRAFSRLKLLRRHQKTHPEATSQ hide sequence

RefSeq Acc Id:	NP_001309001 ⟸ NM_001322072
- Peptide Label:	isoform b
- UniProtKB:	Q53F04 (UniProtKB/Swiss-Prot), Q49A73 (UniProtKB/Swiss-Prot), B4DX98 (UniProtKB/Swiss-Prot), Q8N7B3 (UniProtKB/Swiss-Prot), Q9BUG6 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAANCTSSWSLGESCNRPGLELPRSMASSETQLGNHDVDPEISHVNFRMFSCPKESDPIQALRKLTELCHLWLRPDLHTKEQILDMLVMEQFMISMPQELQVLVMMNGVQSCKDLEDLLRNNRRPKKW SVVTFHGKEYIVQDSDIEMAEAPSSVRDDLKDVSSQRASSVNQMRPGEGQAHRELQILPRVPALSRRQGEDFLLHKSIDVTGDPKSLRPKQTLEKDLKENREENPGLTSPEPQLPKSPTDLVRAKEGK DPPKIASVENVDADTPSACVVEREASTHSGNRGDALNLSSPKRSKPDASSISQEEPQGEATPVGNRESPGQAGMNSIHSPGPASPVSHPDGQEAKALPPFACDVCEKRFTCNSKLVIHKRSHTGERLF QCNLCGKRFMQLISLQFHQRTHTGERPYTCDVCQKQFTQKSYLKCHKRSHTGEKPFECKDCKKVFTYRGSLKEHQRIHSGEKPYKCSKCPRAFSRLKLLRRHQKTHPEATSQ hide sequence

RefSeq Acc Id:	NP_001309003 ⟸ NM_001322074
- Peptide Label:	isoform c
- UniProtKB:	A0A0C4DGQ1 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAANCTSSWSLGESCNRPGLELPRSMASSETQLGNHDVDPEISHVNFRMFSCPKESDPIQALRKLTELCHLWLRPDLHTKEQILDMLVMEQFMISMPQELQVLVMMNGVQSCKDLEDLLRNNRRPKKW SVVTFHGKEYIVQDSDIEMAEAPSSVRDDLKDVSSQRASSVNQMRPGEGQAHRELQILPRVPALSRRQGEDFLLHKSIDVTGDPKSLRPKQTLEKDLKENREENPGLTSPEPQLPKSPNLVRAKEGKD PPKIASVENVDADTPSACVVEREASTHSGNRGDALNLSSPKRSKPDASSISQEEPQGEATPVGNRESPGQAGMNSIHSPGPASPVSHPDGQEAKALPPFACDVCEKRFTCNSKLVIHKRSHTGERLFQ CNLCGKRFMQLISLQFHQRTHTGERPYTCDVCQKQFTQKSYLKCHKRSHTGEKPFECKDCKKVFTYRGSLKEHQRIHSGEKPYKCSKCPRAFSRLKLLRRHQKTHPEATSQ hide sequence

RefSeq Acc Id:	NP_001309007 ⟸ NM_001322078
- Peptide Label:	isoform e
- UniProtKB:	Q9BUG6 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MIVRPPQPRETDSDIEMAEAPSSVRDDLKDVSSQRASSVNQMRPGEGQAHRELQILPRVPALSRRQGEDFLLHKSIDVTGDPKSLRPKQTLEKDLKENREENPGLTSPEPQLPKSPTDLVRAKEGKDP PKIASVENVDADTPSACVVEREASTHSGNRGDALNLSSPKRSKPDASSISQEEPQGEATPVGNRESPGQAGMNSIHSPGPASPVSHPDGQEAKALPPFACDVCEKRFTCNSKLVIHKRSHTGERLFQC NLCGKRFMQLISLQFHQRTHTGERPYTCDVCQKQFTQKSYLKCHKRSHTGEKPFECKDCKKVFTYRGSLKEHQRIHSGEKPYKCSKCPRAFSRLKLLRRHQKTHPEATSQ hide sequence

RefSeq Acc Id:	NP_001309006 ⟸ NM_001322077
- Peptide Label:	isoform d
- UniProtKB:	Q9BUG6 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MIVRPPQPRETSVVTFHGKEYIVQDSDIEMAEAPSSVRDDLKDVSSQRASSVNQMRPGEGQAHRELQILPRVPALSRRQGEDFLLHKSIDVTGDPKSLRPKQTLEKDLKENREENPGLTSPEPQLPKS PTDLVRAKEGKDPPKIASVENVDADTPSACVVEREASTHSGNRGDALNLSSPKRSKPDASSISQEEPQGEATPVGNRESPGQAGMNSIHSPGPASPVSHPDGQEAKALPPFACDVCEKRFTCNSKLVI HKRSHTGERLFQCNLCGKRFMQLISLQFHQRTHTGERPYTCDVCQKQFTQKSYLKCHKRSHTGEKPFECKDCKKVFTYRGSLKEHQRIHSGEKPYKCSKCPRAFSRLKLLRRHQKTHPEATSQ hide sequence

Protein Domains

C2H2-type SCAN box

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9BUG6-F1-model_v2	AlphaFold	Q9BUG6	1-496	view protein structure

RGD ID:

13205823

Promoter ID:

EPDNEW_H26492

Type:

initiation region

Name:

ZSCAN5A_2

Description:

zinc finger and SCAN domain containing 5A

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H26493

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	56,228,301 - 56,228,361	EPDNEW

RGD ID:

13205825

Promoter ID:

EPDNEW_H26493

Type:

initiation region

Name:

ZSCAN5A_1

Description:

zinc finger and SCAN domain containing 5A

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H26492

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	56,314,839 - 56,314,899	EPDNEW

Database	Acc Id	Source(s)
COSMIC	ZSCAN5A	COSMIC
Ensembl Genes	ENSG00000131848	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000391713	ENTREZGENE
	ENST00000391713.5	UniProtKB/Swiss-Prot
	ENST00000587340	ENTREZGENE
	ENST00000587340.5	UniProtKB/Swiss-Prot
	ENST00000587492	ENTREZGENE
	ENST00000592355	ENTREZGENE
	ENST00000683990	ENTREZGENE
	ENST00000683990.1	UniProtKB/Swiss-Prot
Gene3D-CATH	1.10.4020.10	UniProtKB/Swiss-Prot
	Classic Zinc Finger	UniProtKB/Swiss-Prot
GTEx	ENSG00000131848	GTEx
HGNC ID	HGNC:23710	ENTREZGENE
Human Proteome Map	ZSCAN5A	Human Proteome Map
InterPro	SCAN_dom	UniProtKB/Swiss-Prot
	SCAN_sf	UniProtKB/Swiss-Prot
	Zinc_finger	UniProtKB/Swiss-Prot
	Znf_C2H2_sf	UniProtKB/Swiss-Prot
	Znf_C2H2_type	UniProtKB/Swiss-Prot
KEGG Report	hsa:79149	UniProtKB/Swiss-Prot
NCBI Gene	79149	ENTREZGENE
OMIM	620916	OMIM
PANTHER	C2H2-TYPE DOMAIN-CONTAINING PROTEIN	UniProtKB/Swiss-Prot
	PR DOMAIN ZINC FINGER PROTEIN	UniProtKB/Swiss-Prot
Pfam	SCAN	UniProtKB/Swiss-Prot
	zf-C2H2	UniProtKB/Swiss-Prot
	zf-met	UniProtKB/Swiss-Prot
PharmGKB	PA162411030	PharmGKB
PROSITE	SCAN_BOX	UniProtKB/Swiss-Prot
	ZINC_FINGER_C2H2_1	UniProtKB/Swiss-Prot
	ZINC_FINGER_C2H2_2	UniProtKB/Swiss-Prot
SMART	SCAN	UniProtKB/Swiss-Prot
	ZnF_C2H2	UniProtKB/Swiss-Prot
Superfamily-SCOP	Retrovirus capsid dimerization domain-like	UniProtKB/Swiss-Prot
	SSF57667	UniProtKB/Swiss-Prot
UniProt	A0A0C4DGQ1	ENTREZGENE, UniProtKB/TrEMBL
	B4DX98	ENTREZGENE
	K7EIX9_HUMAN	UniProtKB/TrEMBL
	K7EMC4_HUMAN	UniProtKB/TrEMBL
	K7EN85_HUMAN	UniProtKB/TrEMBL
	K7EQW6_HUMAN	UniProtKB/TrEMBL
	K7ESE4_HUMAN	UniProtKB/TrEMBL
	K7ESN6_HUMAN	UniProtKB/TrEMBL
	Q49A73	ENTREZGENE
	Q53F04	ENTREZGENE
	Q8N7B3	ENTREZGENE
	Q9BUG6	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	B4DX98	UniProtKB/Swiss-Prot
	Q49A73	UniProtKB/Swiss-Prot
	Q53F04	UniProtKB/Swiss-Prot
	Q8N7B3	UniProtKB/Swiss-Prot

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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