Variant #0000021451 (NC_000006.11:g.10626785G>A, GCNT2(NM_145649.4):c.1154G>A)

Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.10626785G>A
DNA change (hg38) g.10626552G>A
Published as -
ISCN -
DB-ID GCNT2_000002 See all 4 reported entries
Variant remarks expression cloning COS7-cells, no GlcNAc-transferase enzyme activity
Reference PubMed: Yu 2001, PubMed: Yu 2003
ClinVar ID -
dbSNP ID rs55940927
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 6.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GCNT2 NM_001491.2 +/? 5 c.1148G>A r.1148g>a p.Arg383His
GCNT2 NM_145649.4 +/? 5 c.1154G>A r.1154g>a p.Arg385His
GCNT2 NM_145655.3 +/? 5 c.1154G>A r.1154g>a p.Arg385His