Genomic variant #0000782015

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.121769530C>T
Reference Copied from the Exome Variant Server
DB-ID AASS_000161
Frequency 1/13004
Freq. EA 0/8600
Freq. AA 1/4404
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AASS NM_005763.3 ?/? c.272G>A r.(?) p.(Gly91Glu)