Genomic variant #0000581908

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.138723552C>T
Reference Copied from the Exome Variant Server
DB-ID MZB1_000007
Frequency 1/11990
Freq. EA 1/8230
Freq. AA 0/3760
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
MZB1 NM_016459.3 ?/? c.472G>A r.(?) p.(Ala158Thr)