Genomic variant #0001261904

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.125550303C>A
Reference Copied from the Exome Variant Server
DB-ID AACS_000006
Frequency 438/10124
Freq. EA 12/6692
Freq. AA 426/3432
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AACS NM_023928.3 ?/? c.133+40C>A r.(=) p.(=)