Genomic variant #0000482488

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.57248651_57248652insT
Reference Copied from the Exome Variant Server
DB-ID AASDH_000163
Frequency 27/12520
Freq. EA 17/8254
Freq. AA 10/4266
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AASDH NM_181806.2 ?/? c.342_343insA r.(?) p.(Gln115Thrfs*3)