Genomic variant #0000238747

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.69759262G>C
Reference Copied from the Exome Variant Server
DB-ID AAK1_000133
Frequency 1/12254
Freq. EA 1/8312
Freq. AA 0/3942
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AAK1 NM_014911.3 ?/? c.567C>G r.(?) p.(His189Gln)