Genomic variant #0000784728

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.128412628G>A
Reference Copied from the Exome Variant Server
DB-ID CALU_000049
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.*3407G>A r.(?) p.(Ser338Phe)
OPN1SW NM_001708.2 ?/? c.1013C>T r.(?) p.(Ser338Phe)