Genomic variant #0000289397

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.173429231C>A
Reference Copied from the Exome Variant Server
DB-ID PDK1_000018
Frequency 23/13006
Freq. EA 0/8600
Freq. AA 23/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PDK1 NM_002610.3 ?/? c.411C>A r.(?) p.(Asp137Glu)