Genomic variant #0000238729

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.69748053T>A
Reference Copied from the Exome Variant Server
DB-ID AAK1_000108
Frequency 12/12298
Freq. EA 12/8336
Freq. AA 0/3962
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AAK1 NM_014911.3 ?/? c.1123A>T r.(?) p.(Thr375Ser)