Genomic variant #0001261923

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.125570942C>T
Reference Copied from the Exome Variant Server
DB-ID AACS_000025
Frequency 1/13006
Freq. EA 1/8600
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.425C>T r.(?) p.(Ala142Val)