Genomic variant #0001552050

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.7749972G>T
Reference Copied from the Exome Variant Server
DB-ID KDM6B_000048
Frequency 40/13006
Freq. EA 34/8600
Freq. AA 6/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
KDM6B NM_001080424.1 ?/? c.625G>T r.(?) p.(Val209Leu)