Genomic variant #0001552049

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.7749954C>G
Reference Copied from the Exome Variant Server
DB-ID KDM6B_000047
Frequency 1250/13004
Freq. EA 237/8598
Freq. AA 1013/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
KDM6B NM_001080424.1 ?/? c.607C>G r.(?) p.(Pro203Ala)