Genomic variant #0000781983

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.121756958T>A
Reference Copied from the Exome Variant Server
DB-ID AASS_000129
Frequency 1/13006
Freq. EA 0/8600
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AASS NM_005763.3 ?/? c.741A>T r.(?) p.(Glu247Asp)