Genomic variant #0000482413

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.57216119C>T
Reference Copied from the Exome Variant Server
DB-ID AASDH_000085
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     
AASDH NM_181806.2 ?/? c.1798G>A r.(?) p.(Glu600Lys)