Genomic variant #0000238708

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.69741754_69741756del
Reference Copied from the Exome Variant Server
DB-ID AAK1_000091
Frequency 4269/12464
Freq. EA 3317/8232
Freq. AA 952/4232
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AAK1 NM_014911.3 ?/? c.1623_1625del r.(?) p.(Gln546del)