Genomic variant #0001667553

Chromosome 18
DNA change (genomic) (Relative to hg19 / GRCh37) g.42281472G>A
Reference Copied from the Exome Variant Server
DB-ID SETBP1_000005
Frequency 3/13006
Freq. EA 0/8600
Freq. AA 3/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SETBP1 NM_001130110.1 ?/? c.161G>A r.(?) p.(Arg54His)