Genomic variant #0000128311

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.156212817G>A
Reference Copied from the Exome Variant Server
DB-ID PMF1-BGLAP_000021
Frequency 1/13006
Freq. EA 0/8600
Freq. AA 1/4406
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.613-7G>A r.(=) p.(=)
BGLAP NM_199173.4 ?/? c.174-7G>A r.(=) p.(=)