rs386834224 Rat Genome Database

rs386834224 Rat Genome Database

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Variant: rs386834224 - Homo sapiens

RGD ID:

8616899

RS ID:

rs386834224

ClinVar ID:

CV70805

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

KRT18 KRT8 LOC106096416

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	12	53,343,239
GRCh38	12	52,949,455

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_008351.1:g.5585C>T NC_000012.12:g.52949455C>T NC_000012.11:g.53343239C>T NM_199187.2:c.282C>T More...		intron\|intron variant\|splice donor variant\|synonymous 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:	Y to Y (synonymous)
Amino Acid Position:	94

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

Gene Symbol:	KRT18
Accession:	NM_000224
Location:	EXON
Amino Acid Prediction:	Y to Y (synonymous)
Amino Acid Position:	94

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSFTTRSTFSTNYRSLGSVQAPSYGARPVSSAASVYAGAGGSGSRISVSRSTSFRGGMGSGGLATGIAGGLAGMGGIQNE 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	RCV000049577	CLINVAR
dbSNP (RS)	rs386834224	CLINVAR
MedGen	C1835407	CLINVAR
NCBI Gene	106096416	CLINVAR
	KRT18	CLINVAR
	KRT8	CLINVAR
OMIM	148060	CLINVAR
	148070	CLINVAR
	609532	CLINVAR