rs753856393 Rat Genome Database

rs753856393 Rat Genome Database

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Variant: rs753856393 - Homo sapiens

RGD ID:

150423051

RS ID:

rs753856393

ClinVar ID:

CV1181023

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

KRT8

Reference Nucleotide:

C

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	12	53,291,399
GRCh38	12	52,897,615

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001256293.2:c.1265G>T NM_002273.4:c.1265G>T NM_001256282.2:c.1349G>T NG_008402.2:g.57252G>T More...	06/26/2019	missense variant	uncertain significance	none provided

Gene Symbol:	KRT8
Accession:	NM_002273
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	422

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSIRVTQKSYKVSTSGPRAFSSRSYTSGPGSRISSSSFSRVGSSNFRGGLGGGYGGASGMGGITAVTVNQSLLSPLVLEV DPNIQAVRTQEKEQIKTLNNKFASFIDKVRFLEQQNKMLETKWSLLQQQKTARSNMDNMFESYINNLRRQLETLGQEKLK LEAELGNMQGLVEDFKNKYEDEINKRTEMENEFVLIKKDVDEAYMNKVELESRLEGLTDEINFLRQLYEEEIRELQSQIS DTSVVLSMDNSRSLDMDSIIAEVKAQYEDIANRSRAEAESMYQIKYEELQSLAGKHGDDLRRTKTEISEMNRNISRLQAE IEGLKGQRASLEAAIADAEQRGELAIKDANAKLSELEAALQRAKQDMARQLREYQELMNVKLALDIEIATYRKLLEGEES RLESGMQNMSIHTKTTSGYAGVLSSAYGGLTSPGLSYSLGSSFGSGAGSSSFSRTSSSRAVVVKKIETRDGKLVSESSDV LPK*

Gene Symbol:	KRT8
Accession:	NM_001256293
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	422

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSIRVTQKSYKVSTSGPRAFSSRSYTSGPGSRISSSSFSRVGSSNFRGGLGGGYGGASGMGGITAVTVNQSLLSPLVLEV DPNIQAVRTQEKEQIKTLNNKFASFIDKVRFLEQQNKMLETKWSLLQQQKTARSNMDNMFESYINNLRRQLETLGQEKLK LEAELGNMQGLVEDFKNKYEDEINKRTEMENEFVLIKKDVDEAYMNKVELESRLEGLTDEINFLRQLYEEEIRELQSQIS DTSVVLSMDNSRSLDMDSIIAEVKAQYEDIANRSRAEAESMYQIKYEELQSLAGKHGDDLRRTKTEISEMNRNISRLQAE IEGLKGQRASLEAAIADAEQRGELAIKDANAKLSELEAALQRAKQDMARQLREYQELMNVKLALDIEIATYRKLLEGEES RLESGMQNMSIHTKTTSGYAGVLSSAYGGLTSPGLSYSLGSSFGSGAGSSSFSRTSSSRAVVVKKIETRDGKLVSESSDV LPK*

Gene Symbol:	KRT8
Accession:	NM_001256282
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	450

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNGVSWSQDLQEGISAWFGPPASTPASTMSIRVTQKSYKVSTSGPRAFSSRSYTSGPGSRISSSSFSRVGSSNFRGGLGG GYGGASGMGGITAVTVNQSLLSPLVLEVDPNIQAVRTQEKEQIKTLNNKFASFIDKVRFLEQQNKMLETKWSLLQQQKTA RSNMDNMFESYINNLRRQLETLGQEKLKLEAELGNMQGLVEDFKNKYEDEINKRTEMENEFVLIKKDVDEAYMNKVELES RLEGLTDEINFLRQLYEEEIRELQSQISDTSVVLSMDNSRSLDMDSIIAEVKAQYEDIANRSRAEAESMYQIKYEELQSL AGKHGDDLRRTKTEISEMNRNISRLQAEIEGLKGQRASLEAAIADAEQRGELAIKDANAKLSELEAALQRAKQDMARQLR EYQELMNVKLALDIEIATYRKLLEGEESRLESGMQNMSIHTKTTSGYAGVLSSAYGGLTSPGLSYSLGSSFGSGAGSSSF SRTSSSRAVVVKKIETRDGKLVSESSDVLPK*

Gene Symbol:	KRT8
Accession:	NR_045962
Location:	EXON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV001553484	CLINVAR
dbSNP (RS)	rs753856393	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	KRT8	CLINVAR
OMIM	148060	CLINVAR