Genomic variant #0001261952

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.125591615G>A
Reference Copied from the Exome Variant Server
DB-ID AACS_000054
Frequency 1/5734
Freq. EA 1/3982
Freq. AA 0/1752
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AACS NM_023928.3 ?/? c.768-52G>A r.(=) p.(=)