Genomic variant #0000581928

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.138724216C>T
Reference Copied from the Exome Variant Server
DB-ID MZB1_000027
Frequency 1/12120
Freq. EA 0/8250
Freq. AA 1/3870
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
MZB1 NM_016459.3 ?/? c.236G>A r.(?) p.(Arg79Gln)