RGD:155964835 Rat Genome Database

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Variant: RGD:155964835 -  Homo sapiens

RGD ID: 155964835
ClinVar ID: CV2395884
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRT35  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 39,637,030
GRCh38 17 41,480,778
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002280.6:c.320G>A
NG_012292.1:g.5363G>A
NC_000017.11:g.41480778C>T
NC_000017.10:g.39637030C>T
More... 		09/09/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KRT35
Accession:NM_002280
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASKCLKAGFSSGSLKSPGGASGGSTRVSAMYSSSSCKLPSLSPVARSFSACSVGLGRSSYRATSCLPALCLPAGGFATS
YSGGGGWFGEGILTGNEKETMQSLNDHLAGYLEKVRQLEQENASLESRIREWCEQQVPYMCPDYQSYFRTIEELQKKTLC
SKAENARLVVEIDNAKLAADDFRTKYETEVSLRQLVESDINGLRRILDDLTLCKSDLEAQVESLKEELLCLKKNHEEEVN
SLRCQLGDRLNVEVDAAPPVDLNRVLEEMRCQYETLVENNRRDAEDWLDTQSEELNQQVVSSSEQLQSCQAEIIELRRTV
NALEIELQAQHSMRDALESTLAETEARYSSQLAQMQCMITNVEAQLAEIRADLERQNQEYQVLLDVRARLECEINTYRGL
LESEDSKLPCNPCAPDYSPSKSCLPCLPAASCGPSAARTNCSPRPICVPCPGGRF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002754348 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene KRT35 CLINVAR
OMIM 602764 CLINVAR