RGD:15109280 Rat Genome Database

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Variant: RGD:15109280 -  Homo sapiens

RGD ID: 15109280
RS ID: rs371076226
ClinVar ID: CV727173
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRT17  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 39,780,624
GRCh38 17 41,624,372
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009090.2:g.167341C>T
NG_008625.1:g.5259C>T
NC_000017.11:g.41624372G>A
NC_000017.10:g.39780624G>A
More...
10/03/2017 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:KRT17
Accession:NM_000422
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTSIRQFTSSSSIKGSSGLGGGSSRTSCRLSGGLGAGSCRLGSAGGLGSTLGGSSYSSCYSFGSGGGYGSSFGGVDGLL
AGGEKATMQNLNDRLASYLDKVRALEEANTELEVKIRDWYQRQAPGPARDYSQYYRTIEELQNKILTATVDNANILLQID
NARLAADDFRTKFETEQALRLSVEADINGLRRVLDELTLARADLEMQIENLKEELAYLKKNHEEEMNALRGQVGGEINVE
MDAAPGVDLSRILNEMRDQYEKMAEKNRKDAEDWFFSKTEELNREVATNSELVQSGKSEISELRRTMQALEIELQSQLSM
KASLEGNLAETENRYCVQLSQIQGLIGSVEEQLAQLRCEMEQQNQEYKILLDVKTRLEQEIATYRRLLEGEDAHLTQYKK
EPVTTRQVRTIVEEVQDGKVISSREQVHQTTR*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000893835 CLINVAR
dbSNP (RS) rs371076226 CLINVAR
MedGen C3661900 CLINVAR
  CN517202 CLINVAR
NCBI Gene KRT17 CLINVAR
OMIM 148069 CLINVAR