Genomic variant #0000238722

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.69746287C>A
Reference Copied from the Exome Variant Server
DB-ID AAK1_000101
Frequency 1/12580
Freq. EA 0/8436
Freq. AA 1/4144
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AAK1 NM_014911.3 ?/? c.1296G>T r.(?) p.(Gln432His)