Genomic variant #0000238721

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.69746249G>A
Reference Copied from the Exome Variant Server
DB-ID AAK1_000100
Frequency 1/12734
Freq. EA 1/8490
Freq. AA 0/4244
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AAK1 NM_014911.3 ?/? c.1334C>T r.(?) p.(Thr445Met)