Genomic variant #0001261991

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.125609208C>A
Reference Copied from the Exome Variant Server
DB-ID AACS_000087
Frequency 3/13006
Freq. EA 0/8600
Freq. AA 3/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AACS NM_023928.3 ?/? c.1122-43C>A r.(=) p.(=)