Genomic variant #0000166775

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.203832916T>C
Reference Copied from the Exome Variant Server
DB-ID SNRPE_000020
Frequency 3/4566
Freq. EA 0/3182
Freq. AA 3/1384
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SNRPE NM_003094.2 ?/? c.144+63T>C r.(=) p.(=)