Genomic variant #0000238751

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.69769699G>A
Reference Copied from the Exome Variant Server
DB-ID AAK1_000141
Frequency 1/12340
Freq. EA 0/8378
Freq. AA 1/3962
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AAK1 NM_014911.3 ?/? c.490C>T r.(?) p.(Arg164Cys)