Genomic variant #0000226954

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.44079755G>A
Reference Copied from the Exome Variant Server
DB-ID ABCG8_000077
Frequency 12/13006
Freq. EA 11/8600
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ABCG8 NM_022437.2 ?/? c.712G>A r.(?) p.(Glu238Lys)