CHST9
carbohydrate sulfotransferase 9
Summary
The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Sulfate groups on carbohydrates confer highly specific functions to glycoproteins, glycolipids, and proteoglycans, and are critical for cell-cell interaction, signal transduction, and embryonic development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Aug 2011]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs747751233 | 18:24,496,323 | C/T | — | uncertain significance |
| rs80190384 | 18:24,496,376 | G/C | — | benign |
| rs1194947867 | 18:24,496,407 | A/T | — | uncertain significance |
| rs753741146 | 18:24,496,411 | G/C | — | uncertain significance |
| rs1047731634 | 18:24,496,479 | G/A | — | uncertain significance |
| rs200393307 | 18:24,496,495 | T/A | — | uncertain significance |
| rs201523792 | 18:24,496,614 | C/T | — | uncertain significance |
| rs2055532293 | 18:24,496,666 | G/T | — | uncertain significance |
| rs2055533458 | 18:24,496,707 | A/T | — | uncertain significance |
| rs759677877 | 18:24,496,763 | T/A | — | uncertain significance |
| rs202195414 | 18:24,496,771 | C/T | — | uncertain significance |
| rs138794390 | 18:24,496,946 | T/C | — | likely benign |
| rs2511231230 | 18:24,496,953 | T/C | — | uncertain significance |
| rs1176089871 | 18:24,496,981 | C/A | — | uncertain significance |
| rs2511231525 | 18:24,497,046 | T/A | — | uncertain significance |
| rs769959604 | 18:24,497,063 | T/A | — | uncertain significance |
| rs2145046256 | 18:24,497,064 | T/C | — | uncertain significance |
| rs374131760 | 18:24,497,104 | A/G | — | uncertain significance |
| rs201733524 | 18:24,497,108 | C/T | — | uncertain significance |
| rs763713195 | 18:24,497,221 | T/G | — | uncertain significance |
| rs750756957 | 18:24,497,242 | T/C | — | uncertain significance |
| rs1154214 | 18:24,546,824 | T/G | intron variant | — |
| rs1683468 | 18:24,555,675 | G/T | — | — |
| rs1436904 | 18:24,570,667 | T/G | intron variant | — |
| rs1175746 | 18:24,578,550 | T/C | intron variant | — |
| rs186818611 | 18:24,604,092 | C/T | — | uncertain significance |
| rs374613360 | 18:24,604,098 | G/A | — | uncertain significance |
| rs12458099 | 18:24,605,439 | G/T | — | — |
| rs77489688 | 18:24,654,365 | G/A | intron variant | — |
| rs9961915 | 18:24,687,324 | C/T | intron variant | — |
| rs9953270 | 18:24,687,371 | T/C | intron variant | — |
| rs9952639 | 18:24,709,604 | G/T | — | — |
| rs772127978 | 18:24,722,724 | A/C | — | uncertain significance |
| rs543771549 | 18:24,722,749 | T/C | — | uncertain significance |
| rs747012121 | 18:24,722,752 | T/C | — | uncertain significance |
| rs2058578953 | 18:24,722,755 | C/A | — | uncertain significance |
| rs200626066 | 18:24,728,880 | T/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.