Genomic variant #0000784729

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.128412653A>T
Reference Copied from the Exome Variant Server
DB-ID CALU_000050
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     
CALU NM_001219.4 ?/? c.*3432A>T r.(?) p.(Cys330Ser)
OPN1SW NM_001708.2 ?/? c.988T>A r.(?) p.(Cys330Ser)