Genomic variant #0001948530

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.228178C>T
Reference Copied from the Exome Variant Server
DB-ID GTPBP6_000098
Frequency 7/12986
Freq. EA 4/8584
Freq. AA 3/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GTPBP6 NM_012227.2 ?/? c.347G>A r.(?) p.(Arg116Gln)