ST6GALNAC1
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1
Summary
Glycosylation of proteins affects cell-cell interaction, interactions with the matrix, and the functions of intracellular molecules. ST6GALNAC1 transfers a sialic acid, N-acetylneuraminic acid (NeuAc), in an alpha-2,6 linkage to O-linked GalNAc residues. The cancer-associated sialyl-Tn (sTn) antigen is formed by ST6GALNAC1-catalyzed sialylation of GalNAc residues on mucins (Ikehara et al., 1999 [PubMed 10536037]; Sewell et al., 2006 [PubMed 16319059]).[supplied by OMIM, Mar 2008]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs755142819 | 17:74,621,435 | C/T | — | uncertain significance |
| rs150577421 | 17:74,621,447 | G/T | — | uncertain significance |
| rs2075782567 | 17:74,621,512 | T/C | — | uncertain significance |
| rs2075782776 | 17:74,621,521 | A/G | — | likely benign |
| rs1238145073 | 17:74,621,554 | T/C | — | uncertain significance |
| rs778767132 | 17:74,621,557 | T/C | — | uncertain significance |
| rs2075783856 | 17:74,621,585 | C/T | — | uncertain significance |
| rs746582013 | 17:74,621,587 | G/T | — | uncertain significance |
| rs371043875 | 17:74,621,953 | C/T | — | uncertain significance |
| rs372411661 | 17:74,621,989 | G/C | — | uncertain significance |
| rs781690876 | 17:74,622,149 | C/T | — | uncertain significance |
| rs140300025 | 17:74,622,747 | C/T | — | uncertain significance |
| rs930539840 | 17:74,622,777 | G/T | — | uncertain significance |
| rs904834191 | 17:74,622,801 | C/T | — | uncertain significance |
| rs138031739 | 17:74,622,810 | C/T | — | uncertain significance |
| rs752583805 | 17:74,622,864 | C/T | — | uncertain significance |
| rs372667027 | 17:74,623,210 | C/T | — | uncertain significance |
| rs757163221 | 17:74,623,240 | G/A | — | uncertain significance |
| rs140111316 | 17:74,623,273 | G/T | — | likely benign |
| rs139968789 | 17:74,623,306 | C/T | — | uncertain significance |
| rs145331310 | 17:74,623,526 | G/C | — | uncertain significance |
| rs1400231812 | 17:74,623,559 | C/T | — | uncertain significance |
| rs375163408 | 17:74,625,114 | C/T | — | uncertain significance |
| rs762648078 | 17:74,625,143 | C/T | — | uncertain significance |
| rs369182233 | 17:74,625,270 | C/T | — | uncertain significance |
| rs754819417 | 17:74,625,279 | G/C | — | uncertain significance |
| rs146469768 | 17:74,625,305 | G/A | — | likely benign |
| rs146032525 | 17:74,625,306 | T/G | — | benign |
| rs150150157 | 17:74,625,342 | G/A | — | uncertain significance |
| rs373212469 | 17:74,625,395 | G/T | — | uncertain significance |
| rs760946201 | 17:74,625,576 | G/A | — | uncertain significance |
| rs768227750 | 17:74,625,579 | G/T | — | uncertain significance |
| rs560333120 | 17:74,625,669 | G/A | — | uncertain significance |
| rs370388196 | 17:74,625,730 | C/G | — | uncertain significance |
| rs61580404 | 17:74,638,043 | G/T | regulatory region variant | — |
| rs752841390 | 17:74,639,650 | A/G | — | uncertain significance |
| rs1237151041 | 17:74,639,711 | A/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.