GALNT12 Chromosome 9
Polypeptide N-acetylgalactosaminyltransferase 12
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What This Gene Does
This gene encodes a member of a family of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases, which catalyze the transfer of N-acetylgalactosamine (GalNAc) from UDP-GalNAc to a serine or threonine residue on a polypeptide acceptor in the initial step of O-linked protein glycosylation. Mutations in this gene are associated with an increased susceptibility to colorectal cancer.[provided by RefSeq, Mar 2011]
Gene Info
Gene Group
Polypeptide N-acetylgalactosaminyltransferases
Locus Type
gene with protein product
Location
9q22.33
Ensembl
ENSG00000119514
Associated Conditions (11)
Colorectal cancer
susceptibility to
1
Hereditary cancer-predisposing syndrome
Adenomatous polyposis coli
attenuated
GALNT12-related disorder
Familial colorectal cancer
Breast neoplasm
Gastric cancer
Melanoma
Key Variants
RS1005081558
Conflicting classifications of pathogenicity
Health Risk
RS1169647634
Conflicting classifications of pathogenicity
Health Risk
RS1179298414
Conflicting classifications of pathogenicity
Health Risk
RS1197184207
Conflicting classifications of pathogenicity
Health Risk
RS1204571302
Conflicting classifications of pathogenicity
Health Risk
RS1209537944
Conflicting classifications of pathogenicity
Health Risk
RS1237409974
Conflicting classifications of pathogenicity
Colorectal cancer, susceptibility to, 1
Health Risk
RS1238412781
Conflicting classifications of pathogenicity
Health Risk
RS1285871027
Conflicting classifications of pathogenicity
Colorectal cancer, susceptibility to, 1
Health Risk
RS1292953164
Conflicting classifications of pathogenicity
Health Risk
RS1315923578
Conflicting classifications of pathogenicity
Colorectal cancer, susceptibility to, 1
Health Risk
RS1318889911
Conflicting classifications of pathogenicity
Health Risk
All Variants (59)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS777862536 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS781089454 | Health Risk | Conflicting classifications of pathogenicity | Colorectal cancer, susceptibility to, 1 |
| RS878855093 | Health Risk | Conflicting classifications of pathogenicity | GALNT12-related disorder, Colorectal cancer, susceptibility to |
| RS889395877 | Health Risk | Conflicting classifications of pathogenicity | Colorectal cancer, susceptibility to, 1 |
| RS892227579 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS927193317 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS947666286 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS980755584 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS988592123 | Health Risk | Conflicting classifications of pathogenicity | Colorectal cancer, susceptibility to, 1 |