Genomic variant #0000442419

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.183706432T>C
Reference Copied from the Exome Variant Server
DB-ID ABCC5_000219
Frequency 1/13006
Freq. EA 0/8600
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ABCC5 NM_005688.2 ?/? c.371A>G r.(?) p.(Lys124Arg)