Genomic variant #0001199685

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.50136030C>T
Reference Copied from the Exome Variant Server
DB-ID TMBIM6_000006
Frequency 1/11998
Freq. EA 1/8198
Freq. AA 0/3800
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+636C>T r.(=) p.(=)