Genomic variant #0001261946

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.125587566G>T
Reference Copied from the Exome Variant Server
DB-ID AACS_000048
Frequency 7/13006
Freq. EA 7/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AACS NM_023928.3 ?/? c.706G>T r.(?) p.(Val236Leu)