Genomic variant #0001261925

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.125570973A>C
Reference Copied from the Exome Variant Server
DB-ID AACS_000027
Frequency 2/13006
Freq. EA 0/8600
Freq. AA 2/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AACS NM_023928.3 ?/? c.456A>C r.(?) p.(Lys152Asn)