RGD:8616898 Rat Genome Database

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Variant: RGD:8616898 -  Homo sapiens

RGD ID: 8616898
RS ID: rs386834225
ClinVar ID: CV70804
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRT18  LOC106096416  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 53,346,563
GRCh38 12 52,952,779
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000224.3:c.1230C>G
NG_008351.1:g.8909C>G
NC_000012.12:g.52952779C>G
NC_000012.11:g.53346563C>G
More... 		synonymous variant not provided HCV, SUSCEPTIBILITY TO

Variant Details
Variant Transcripts
Gene Symbol:KRT18
Accession:NM_000224
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 410
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSFTTRSTFSTNYRSLGSVQAPSYGARPVSSAASVYAGAGGSGSRISVSRSTSFRGGMGSGGLATGIAGGLAGMGGIQNE
KETMQSLNDRLASYLDRVRSLETENRRLESKIREHLEKKGPQVRDWSHYFKIIEDLRAQIFANTVDNARIVLQIDNARLA
ADDFRVKYETELAMRQSVENDIHGLRKVIDDTNITRLQLETEIEALKEELLFMKKNHEEEVKGLQAQIASSGLTVEVDAP
KSQDLAKIMADIRAQYDELARKNREELDKYWSQQIEESTTVVTTQSAEVGAAETTLTELRRTVQSLEIDLDSMRNLKASL
ENSLREVEARYALQMEQLNGILLHLESELAQTRAEGQRQAQEYEALLNIKVKLEAEIATYRRLLEDGEDFNLGDALDSSN
SMQTIQKTTTRRIVDGKVVSETNDTKVLRH*

Gene Symbol:KRT18
Accession:NM_199187
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 410
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSFTTRSTFSTNYRSLGSVQAPSYGARPVSSAASVYAGAGGSGSRISVSRSTSFRGGMGSGGLATGIAGGLAGMGGIQNE
KETMQSLNDRLASYLDRVRSLETENRRLESKIREHLEKKGPQVRDWSHYFKIIEDLRAQIFANTVDNARIVLQIDNARLA
ADDFRVKYETELAMRQSVENDIHGLRKVIDDTNITRLQLETEIEALKEELLFMKKNHEEEVKGLQAQIASSGLTVEVDAP
KSQDLAKIMADIRAQYDELARKNREELDKYWSQQIEESTTVVTTQSAEVGAAETTLTELRRTVQSLEIDLDSMRNLKASL
ENSLREVEARYALQMEQLNGILLHLESELAQTRAEGQRQAQEYEALLNIKVKLEAEIATYRRLLEDGEDFNLGDALDSSN
SMQTIQKTTTRRIVDGKVVSETNDTKVLRH*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000049576 CLINVAR
dbSNP (RS) rs386834225 CLINVAR
MedGen C1835407 CLINVAR
NCBI Gene 106096416 CLINVAR
  KRT18 CLINVAR
OMIM 148070 CLINVAR
  609532 CLINVAR