Genomic variant #0001956554

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.19560254C>T
Reference Copied from the Exome Variant Server
DB-ID SH3KBP1_000018
Frequency 29/10561
Freq. EA 26/6727
Freq. AA 3/3834
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SH3KBP1 NM_031892.2 ?/? c.1681G>A r.(?) p.(Gly561Ser)