Genomic variant #0000238704

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.69741643_69741644insTT
Reference Copied from the Exome Variant Server
DB-ID AAK1_000083
Frequency 11/11266
Freq. EA 5/7486
Freq. AA 6/3780
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AAK1 NM_014911.3 ?/? c.1735_1736insAA r.(?) p.(Pro579Glnfs*20)