Genomic variant #0000697213

Chromosome 6
DNA change (genomic) (Relative to hg19 / GRCh37) g.139241332A>G
Reference Copied from the Exome Variant Server
DB-ID REPS1_000068
Frequency 2167/13004
Freq. EA 1392/8600
Freq. AA 775/4404
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
REPS1 NM_001128617.1 ?/? c.1447+20T>C r.(=) p.(=)