Genomic variant #0000226937

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.44079509C>T
Reference Copied from the Exome Variant Server
DB-ID ABCG8_000058
Frequency 1/13006
Freq. EA 1/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ABCG8 NM_022437.2 ?/? c.578C>T r.(?) p.(Ala193Val)