Genomic variant #0001261928

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.125571037_125571038insGAAT
Reference Copied from the Exome Variant Server
DB-ID AACS_000030
Frequency 3/12518
Freq. EA 0/8254
Freq. AA 3/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AACS NM_023928.3 ?/? c.472+48_472+49insGAAT r.(=) p.(=)