Genomic variant #0000482496

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.57248749G>A
Reference Copied from the Exome Variant Server
DB-ID AASDH_000171
Frequency 1/13004
Freq. EA 1/8598
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AASDH NM_181806.2 ?/? c.245C>T r.(?) p.(Pro82Leu)