Genomic variant #0000782014

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.121769519G>T
Reference Copied from the Exome Variant Server
DB-ID AASS_000160
Frequency 1/13004
Freq. EA 1/8600
Freq. AA 0/4404
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AASS NM_005763.3 ?/? c.283C>A r.(?) p.(Pro95Thr)