Genomic variant #0001948564

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.229449C>T
Reference Copied from the Exome Variant Server
DB-ID GTPBP6_000132
Frequency 1/12248
Freq. EA 0/8256
Freq. AA 1/3992
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GTPBP6 NM_012227.2 ?/? c.214G>A r.(?) p.(Glu72Lys)