Genomic variant #0001199686

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.50136068G>A
Reference Copied from the Exome Variant Server
DB-ID TMBIM6_000007
Frequency 1/12072
Freq. EA 1/8228
Freq. AA 0/3844
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TMBIM6 NM_003217.2 ?/? c.-31+674G>A r.(=) p.(=)