Genomic variant #0000482483

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.57244629T>C
Reference Copied from the Exome Variant Server
DB-ID AASDH_000158
Frequency 1/12996
Freq. EA 0/8594
Freq. AA 1/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AASDH NM_181806.2 ?/? c.353A>G r.(?) p.(Lys118Arg)