SLC35A1 Chromosome 6
Solute carrier family 35 member A1
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What This Gene Does
The protein encoded by this gene is found in the membrane of the Golgi apparatus, where it transports nucleotide sugars into the Golgi. One such nucleotide sugar is CMP-sialic acid, which is imported into the Golgi by the encoded protein and subsequently glycosylated. Defects in this gene are a cause of congenital disorder of glycosylation type 2F (CDG2F). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]
Gene Info
Gene Group
Solute carrier family 35
Locus Type
gene with protein product
Location
6q15
Ensembl
ENSG00000164414
Associated Conditions (2)
SLC35A1-congenital disorder of glycosylation
SLC35A1-related disorder
Key Variants
RS145006535
Conflicting classifications of pathogenicity
SLC35A1-congenital disorder of glycosylation, SLC35A1-related disorder, SLC35A1-congenital disorder of glycosylation
Health Risk
RS149903512
Conflicting classifications of pathogenicity
SLC35A1-congenital disorder of glycosylation, SLC35A1-congenital disorder of glycosylation
Health Risk
RS1554166294
Pathogenic
SLC35A1-congenital disorder of glycosylation, SLC35A1-congenital disorder of glycosylation
Health Risk
RS2482848939
Pathogenic
SLC35A1-congenital disorder of glycosylation, SLC35A1-congenital disorder of glycosylation
Health Risk
RS1554166844
Pathogenic/Likely pathogenic
SLC35A1-congenital disorder of glycosylation, SLC35A1-congenital disorder of glycosylation
Health Risk
RS578205635
Pathogenic/Likely pathogenic
SLC35A1-congenital disorder of glycosylation, SLC35A1-congenital disorder of glycosylation
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145006535 | Health Risk | Conflicting classifications of pathogenicity | SLC35A1-congenital disorder of glycosylation, SLC35A1-related disorder, SLC35A1-congenital disorder of glycosylation |
| RS149903512 | Health Risk | Conflicting classifications of pathogenicity | SLC35A1-congenital disorder of glycosylation, SLC35A1-congenital disorder of glycosylation |
| RS1554166294 | Health Risk | Pathogenic | SLC35A1-congenital disorder of glycosylation, SLC35A1-congenital disorder of glycosylation |
| RS2482848939 | Health Risk | Pathogenic | SLC35A1-congenital disorder of glycosylation, SLC35A1-congenital disorder of glycosylation |
| RS1554166844 | Health Risk | Pathogenic/Likely pathogenic | SLC35A1-congenital disorder of glycosylation, SLC35A1-congenital disorder of glycosylation |
| RS578205635 | Health Risk | Pathogenic/Likely pathogenic | SLC35A1-congenital disorder of glycosylation, SLC35A1-congenital disorder of glycosylation |