Genomic variant #0000781947

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.121741531C>T
Reference Copied from the Exome Variant Server
DB-ID AASS_000093
Frequency 1/13002
Freq. EA 1/8596
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AASS NM_005763.3 ?/? c.1339-39G>A r.(=) p.(=)