Genomic variant #0000289389

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.173427008A>C
Reference Copied from the Exome Variant Server
DB-ID PDK1_000010
Frequency 2/13006
Freq. EA 0/8600
Freq. AA 2/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PDK1 NM_002610.3 ?/? c.399A>C r.(?) p.(Lys133Asn)