Genomic variant #0001956608

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.19701951G>A
Reference Copied from the Exome Variant Server
DB-ID SH3KBP1_000082
Frequency 3/10563
Freq. EA 2/6728
Freq. AA 1/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SH3KBP1 NM_031892.2 ?/? c.716C>T r.(?) p.(Pro239Leu)