C1GALT1
core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
Summary
The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs55637396 | 7:7,217,867 | G/C | coding sequence variant | — |
| rs10279376 | 7:7,233,913 | T/G | — | — |
| rs143110592 | 7:7,236,131 | A/T | intron variant | — |
| rs11771193 | 7:7,238,107 | A/C | — | — |
| rs4476914 | 7:7,239,555 | C/T | intron variant | — |
| rs971481 | 7:7,243,033 | C/G | intron variant | — |
| rs2881755 | 7:7,256,439 | C/A | — | — |
| rs12702595 | 7:7,259,270 | C/A | intron variant | — |
| rs10259085 | 7:7,268,431 | C/G | — | — |
| rs7787942 | 7:7,270,012 | A/T | intron variant | — |
| rs1008898 | 7:7,273,559 | G/T | intron variant | — |
| rs756077488 | 7:7,274,003 | T/C | — | uncertain significance |
| rs773866551 | 7:7,274,011 | C/A | — | uncertain significance |
| rs41282685 | 7:7,274,054 | T/G | — | benign |
| rs764434666 | 7:7,274,069 | A/G | — | uncertain significance |
| rs4141100 | 7:7,276,954 | G/T | — | — |
| rs761004658 | 7:7,277,978 | A/C | — | uncertain significance |
| rs763383692 | 7:7,277,993 | A/G | — | uncertain significance |
| rs1464121065 | 7:7,278,006 | G/T | — | uncertain significance |
| rs2534548398 | 7:7,278,016 | A/C | — | uncertain significance |
| rs2128251057 | 7:7,278,062 | G/A | — | uncertain significance |
| rs1783468378 | 7:7,278,072 | C/G | — | uncertain significance |
| rs773916621 | 7:7,278,131 | G/C | — | uncertain significance |
| rs766223917 | 7:7,278,180 | C/T | — | uncertain significance |
| rs377075847 | 7:7,278,192 | T/C | — | uncertain significance |
| rs1408101878 | 7:7,278,369 | G/A | — | uncertain significance |
| rs781354873 | 7:7,278,378 | T/C | — | uncertain significance |
| rs144973561 | 7:7,278,392 | C/T | — | likely benign |
| rs186480840 | 7:7,278,416 | A/G | — | uncertain significance |
| rs61744815 | 7:7,278,447 | T/A | — | likely benign |
| rs369214754 | 7:7,278,484 | C/G | — | uncertain significance |
| rs141454650 | 7:7,278,506 | C/T | — | uncertain significance |
| rs374068731 | 7:7,283,284 | C/G | — | uncertain significance |
| rs777844760 | 7:7,283,291 | G/A | — | uncertain significance |
| rs749452892 | 7:7,283,335 | A/G | — | uncertain significance |
| rs1047763 | 7:7,283,569 | G/A | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.