CHODL
chondrolectin
Summary
This gene encodes a type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion. In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathogens. This protein localizes predominantly to the perinuclear region. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
Known Variants17 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs73321585 | 21:19,312,167 | T/C | intron variant | — |
| rs154739 | 21:19,432,711 | C/G | — | — |
| rs982274 | 21:19,479,731 | G/T | intron variant | — |
| rs2055011 | 21:19,481,354 | G/T | — | — |
| rs369632778 | 21:19,530,256 | C/A | — | — |
| rs77600076 | 21:19,531,442 | A/C | intron variant | — |
| rs1243713452 | 21:19,617,578 | T/A | — | uncertain significance |
| rs1204386754 | 21:19,617,587 | G/T | — | uncertain significance |
| rs140940289 | 21:19,628,873 | G/A | — | uncertain significance |
| rs756719942 | 21:19,629,051 | G/A | — | uncertain significance |
| rs1262591201 | 21:19,629,093 | C/T | — | uncertain significance |
| rs147518542 | 21:19,629,355 | C/T | — | uncertain significance |
| rs1288149934 | 21:19,629,358 | A/G | — | uncertain significance |
| rs1189009907 | 21:19,632,532 | C/T | — | uncertain significance |
| rs765606559 | 21:19,635,137 | A/C | — | uncertain significance |
| rs751476320 | 21:19,638,273 | A/T | — | uncertain significance |
| rs918781595 | 21:19,638,346 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.