Genomic variant #0001948534

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.228203C>T
Reference Copied from the Exome Variant Server
DB-ID GTPBP6_000102
Frequency 2/12996
Freq. EA 0/8590
Freq. AA 2/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GTPBP6 NM_012227.2 ?/? c.322G>A r.(?) p.(Gly108Ser)