Genomic variant #0000482506

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.57250327T>G
Reference Copied from the Exome Variant Server
DB-ID AASDH_000183
Frequency 3/13006
Freq. EA 2/8600
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AASDH NM_181806.2 ?/? c.139A>C r.(?) p.(Asn47His)