Genomic variant #0000581926

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.138724213C>T
Reference Copied from the Exome Variant Server
DB-ID MZB1_000025
Frequency 1/12156
Freq. EA 0/8260
Freq. AA 1/3896
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
MZB1 NM_016459.3 ?/? c.239G>A r.(?) p.(Arg80Gln)