Genomic variant #0000723304

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.6045600C>G
Reference Copied from the Exome Variant Server
DB-ID PMS2_000160
Frequency 2/7350
Freq. EA 2/4624
Freq. AA 0/2726
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 ?/? c.86G>C r.(?) p.(Gly29Ala)