Genomic variant #0000116917

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.151748920T>G
Reference Copied from the Exome Variant Server
DB-ID TDRKH_000041
Frequency 27/12102
Freq. EA 0/8276
Freq. AA 27/3826
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TDRKH NM_006862.3 ?/? c.1039A>C r.(?) p.(Ser347Arg)