RGD:405817374 Rat Genome Database

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Variant: RGD:405817374 -  Homo sapiens

RGD ID: 405817374
ClinVar ID: CV3269280
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRT36  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 39,643,650
GRCh38 17 41,487,398
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003771.5:c.940C>T
NG_012293.1:g.7467C>T
NC_000017.11:g.41487398G>A
NC_000017.10:g.39643650G>A
More... 		12/21/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:KRT36
Accession:NM_003771
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 314
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATQTCTPTFSTGSIKGLCGTAGGISRVSSIRSVGSCRVPSLAGAAGYISSARSGLSGLGSCLPGSYLSSECHTSGFVGS
GGWFCEGSFNGSEKETMQFLNDRLANYLEKVRQLERENAELESRIQEWYEFQIPYICPDYQSYFKTIEDFQQKILLTKSE
NARLVLQIDNAKLAADDFRTKYETELSLRQLVEADINGLRRILDELTLCKADLEAQVESLKEELMCLKKNHEEEVSVLRC
QLGDRLNVEVDAAPPVDLNKILEDMRCQYEALVENNRRDVEAWFNTQTEELNQQVVSSSEQLQCCQTEIIELRCTVNALE
IELQAQHSMRNSLESTLAETEARYSSQLAQMQCLISNVEAQLSEIRCDLERQNQEYQVLLDVKARLEGEIATYRHLLEGE
DCKLPPQPCATACKPVIRVPSVPPVPCVPSVPCTPAPQVGTQIRTITEEIRDGKVISSREHVQSRPL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004412360 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRT36 CLINVAR
OMIM 604540 CLINVAR