STT3B Chromosome 3
STT3 oligosaccharyltransferase complex catalytic subunit B
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What This Gene Does
The protein encoded by this gene is a catalytic subunit of a protein complex that transfers oligosaccharides onto asparagine residues. Defects in this gene are a cause of congenital disorder of glycosylation Ix (CDG1X). [provided by RefSeq, Jun 2014]
Gene Info
Gene Group
"STT3 oligosaccharyltransferase catalytic subunits|Oligosaccharyltransferase complex subunits"
Locus Type
gene with protein product
Location
3p23
Ensembl
ENSG00000163527
Associated Conditions (1)
STT3B-congenital disorder of glycosylation
Key Variants
RS141238380
Conflicting classifications of pathogenicity
STT3B-congenital disorder of glycosylation, STT3B-congenital disorder of glycosylation
Health Risk
RS754901414
Conflicting classifications of pathogenicity
STT3B-congenital disorder of glycosylation, STT3B-congenital disorder of glycosylation
Health Risk
RS1696976315
Pathogenic
STT3B-congenital disorder of glycosylation, STT3B-congenital disorder of glycosylation
Health Risk
RS587777217
Pathogenic
STT3B-congenital disorder of glycosylation, STT3B-congenital disorder of glycosylation
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141238380 | Health Risk | Conflicting classifications of pathogenicity | STT3B-congenital disorder of glycosylation, STT3B-congenital disorder of glycosylation |
| RS754901414 | Health Risk | Conflicting classifications of pathogenicity | STT3B-congenital disorder of glycosylation, STT3B-congenital disorder of glycosylation |
| RS1696976315 | Health Risk | Pathogenic | STT3B-congenital disorder of glycosylation, STT3B-congenital disorder of glycosylation |
| RS587777217 | Health Risk | Pathogenic | STT3B-congenital disorder of glycosylation, STT3B-congenital disorder of glycosylation |