Genomic variant #0000238718

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.69746142C>G
Reference Copied from the Exome Variant Server
DB-ID AAK1_000094
Frequency 404/11076
Freq. EA 11/7286
Freq. AA 393/3790
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AAK1 NM_014911.3 ?/? c.1441G>C r.(?) p.(Ala481Pro)