rs200221269 Rat Genome Database

rs200221269 Rat Genome Database

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Variant: rs200221269 - Homo sapiens

RGD ID:

8616900

RS ID:

rs200221269

ClinVar ID:

CV70806

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

KRT18 KRT8 LOC106096416

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	12	53,343,091
GRCh38	12	52,949,307

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_008351.1:g.5437G>C NC_000012.12:g.52949307G>C NC_000012.11:g.53343091G>C NP_000215.1:p.Arg45Pro More...		intron\|intron variant\|missense\|missense variant	not provided	HCV, SUSCEPTIBILITY TO

Gene Symbol:	KRT8
Accession:	NM_001256293
Location:	5UTRS;INTRON

Gene Symbol:	KRT18
Accession:	NM_199187
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	45

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSFTTRSTFSTNYRSLGSVQAPSYGARPVSSAASVYAGAGGSGSPISVSRSTSFRGGMGSGGLATGIAGGLAGMGGIQNE KETMQSLNDRLASYLDRVRSLETENRRLESKIREHLEKKGPQVRDWSHYFKIIEDLRAQIFANTVDNARIVLQIDNARLA ADDFRVKYETELAMRQSVENDIHGLRKVIDDTNITRLQLETEIEALKEELLFMKKNHEEEVKGLQAQIASSGLTVEVDAP KSQDLAKIMADIRAQYDELARKNREELDKYWSQQIEESTTVVTTQSAEVGAAETTLTELRRTVQSLEIDLDSMRNLKASL ENSLREVEARYALQMEQLNGILLHLESELAQTRAEGQRQAQEYEALLNIKVKLEAEIATYRRLLEDGEDFNLGDALDSSN SMQTIQKTTTRRIVDGKVVSETNDTKVLRH*

Gene Symbol:	KRT18
Accession:	NM_000224
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	45

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSFTTRSTFSTNYRSLGSVQAPSYGARPVSSAASVYAGAGGSGSPISVSRSTSFRGGMGSGGLATGIAGGLAGMGGIQNE KETMQSLNDRLASYLDRVRSLETENRRLESKIREHLEKKGPQVRDWSHYFKIIEDLRAQIFANTVDNARIVLQIDNARLA ADDFRVKYETELAMRQSVENDIHGLRKVIDDTNITRLQLETEIEALKEELLFMKKNHEEEVKGLQAQIASSGLTVEVDAP KSQDLAKIMADIRAQYDELARKNREELDKYWSQQIEESTTVVTTQSAEVGAAETTLTELRRTVQSLEIDLDSMRNLKASL ENSLREVEARYALQMEQLNGILLHLESELAQTRAEGQRQAQEYEALLNIKVKLEAEIATYRRLLEDGEDFNLGDALDSSN SMQTIQKTTTRRIVDGKVVSETNDTKVLRH*

Gene Symbol:	KRT8
Accession:	NM_002273
Location:	INTRON

Gene Symbol:	KRT8
Accession:	NM_001256282
Location:	INTRON

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV000049578	CLINVAR
dbSNP (RS)	rs200221269	CLINVAR
MedGen	C1835407	CLINVAR
NCBI Gene	106096416	CLINVAR
	KRT18	CLINVAR
	KRT8	CLINVAR
OMIM	148060	CLINVAR
	148070	CLINVAR
	609532	CLINVAR