RGD:8622064 Rat Genome Database

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Variant: RGD:8622064 -  Homo sapiens

RGD ID: 8622064
ClinVar ID: CV77081
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: KRT17  
Reference Nucleotide: GTAGGAGGCCAGGCG
Variant Nucleotide: ---------------
Position
Assembly Chr Position
GRCh37 17 39,780,468 - 39,780,483
GRCh38 17 41,624,216 - 41,624,231
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000422.2:c.280_294del15
NM_000422.2:c.280_294delCGCCTGGCCTCCTAC
NG_008625.1:g.5401_5415delCGCCTGGCCTCCTAC
NC_000017.11:g.41624216_41624230delGTAGGAGGCCAGGCG
More... 		inframe_variant not provided

Variant Details
Variant Transcripts
Gene Symbol:KRT17
Accession:NM_000422
Location:EXON
Amino Acid Prediction: Y to R (nonsynonymous)
Amino Acid Position: 98
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTSIRQFTSSSSIKGSSGLGGGSSRTSCRLSGGLGAGSCRLGSAGGLGSTLGGSSYSSCYSFGSGGGYGSSFGGVDGLL
AGGEKATMQNLNDRLASRLDKVRALEEANTELEVKIRDWYQRQAPGPARDYSQYYRTIEELQNKILTATVDNANILLQID
NARLAADDFRTKFETEQALRLSVEADINGLRRVLDELTLARADLEMQIENLKEELAYLKKNHEEEMNALRGQVGGEINVE
MDAAPGVDLSRILNEMRDQYEKMAEKNRKDAEDWFFSKTEELNREVATNSELVQSGKSEISELRRTMQALEIELQSQLSM
KASLEGNLAETENRYCVQLSQIQGLIGSVEEQLAQLRCEMEQQNQEYKILLDVKTRLEQEIATYRRLLEGEDAHLTQYKK
EPVTTRQVRTIVEEVQDGKVISSREQVHQTTR*
Variant Samples