Genomic variant #0000128316

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.156212872T>A
Reference Copied from the Exome Variant Server
DB-ID PMF1-BGLAP_000031
Frequency 7/13006
Freq. EA 7/8600
Freq. AA 0/4406
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.661T>A r.(?) p.(Cys74*)
BGLAP NM_199173.4 ?/? c.222T>A r.(?) p.(Cys74*)