Genomic variant #0000128296

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.156212358G>A
Reference Copied from the Exome Variant Server
DB-ID PMF1-BGLAP_000018
Frequency 2/12702
Freq. EA 0/8392
Freq. AA 2/4310
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PMF1-BGLAP NM_001199661.1 ?/? c.518G>A r.(?) p.(Gly27Ser)
BGLAP NM_199173.4 ?/? c.79G>A r.(?) p.(Gly27Ser)