CEP350
centrosomal protein 350
Summary
The product of this gene is a large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. The encoded protein directly interacts with another large centrosomal protein and is required to anchor microtubules at the centrosome. It is also implicated in the regulation of a class of nuclear hormone receptors in the nucleus. Several alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
Known Variants179 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12118928 | 1:179,924,348 | C/T | — | — |
| rs181098546 | 1:179,930,615 | C/T | intron variant | — |
| rs76425715 | 1:179,942,731 | A/G | downstream gene variant | — |
| rs35490245 | 1:179,951,577 | T/C | intron variant | — |
| rs972356169 | 1:179,955,366 | C/T | — | uncertain significance |
| rs139524243 | 1:179,955,375 | A/G | — | uncertain significance |
| rs367948492 | 1:179,956,416 | G/A | — | uncertain significance |
| rs12135200 | 1:179,960,529 | G/A | intron variant | — |
| rs762781537 | 1:179,961,232 | C/G | — | uncertain significance |
| rs189019668 | 1:179,961,257 | G/A | — | uncertain significance |
| rs565948519 | 1:179,961,307 | G/A | — | uncertain significance |
| rs528341058 | 1:179,961,317 | A/C | — | uncertain significance |
| rs770510884 | 1:179,961,322 | C/T | — | uncertain significance |
| rs745381316 | 1:179,961,334 | C/G | — | uncertain significance |
| rs375343535 | 1:179,965,741 | A/G | — | uncertain significance |
| rs147004969 | 1:179,965,828 | G/A | — | uncertain significance |
| rs201996337 | 1:179,965,857 | A/G | — | uncertain significance |
| rs780243635 | 1:179,965,890 | C/G | — | uncertain significance |
| rs140471578 | 1:179,965,947 | A/G | — | likely benign |
| rs1177079935 | 1:179,966,178 | T/C | — | uncertain significance |
| rs141799814 | 1:179,966,292 | C/T | — | uncertain significance |
| rs111374096 | 1:179,966,657 | C/T | downstream gene variant | — |
| rs12137828 | 1:179,974,008 | G/T | — | — |
| rs763201762 | 1:179,975,595 | T/C | — | uncertain significance |
| rs200513070 | 1:179,975,635 | G/C | — | uncertain significance |
| rs146044862 | 1:179,975,648 | C/G | — | uncertain significance |
| rs576762275 | 1:179,975,688 | C/T | — | uncertain significance |
| rs746490380 | 1:179,975,694 | G/A | — | uncertain significance |
| rs61826331 | 1:179,976,730 | G/T | intron variant | — |
| rs371238889 | 1:179,981,085 | C/G | — | uncertain significance |
| rs202134877 | 1:179,981,087 | T/A | — | uncertain significance |
| rs143415064 | 1:179,981,187 | G/A | — | uncertain significance |
| rs532150081 | 1:179,983,023 | G/A | — | uncertain significance |
| rs367923437 | 1:179,983,074 | C/T | — | uncertain significance |
| rs1289597595 | 1:179,983,094 | G/T | — | uncertain significance |
| rs910943293 | 1:179,983,102 | C/G | — | uncertain significance |
| rs770283874 | 1:179,983,146 | A/C | — | uncertain significance |
| rs111349041 | 1:179,983,153 | A/G | — | benign |
| rs148145204 | 1:179,983,164 | A/G | — | likely benign |
| rs140144136 | 1:179,983,324 | A/G | — | uncertain significance |
| rs1197237083 | 1:179,983,347 | A/G | — | uncertain significance |
| rs188095829 | 1:179,983,363 | A/G | — | uncertain significance |
| rs570378041 | 1:179,983,365 | A/G | — | uncertain significance |
| rs201684180 | 1:179,983,381 | A/G | — | uncertain significance |
| rs746042299 | 1:179,983,392 | A/G | — | uncertain significance |
| rs371538840 | 1:179,983,586 | A/G | — | likely benign |
| rs202119025 | 1:179,983,621 | A/G | — | uncertain significance |
| rs747345761 | 1:179,983,636 | C/T | — | uncertain significance |
| rs1279861406 | 1:179,985,087 | C/T | — | uncertain significance |
| rs750194098 | 1:179,989,169 | A/G | — | uncertain significance |
| rs1173528882 | 1:179,989,224 | A/G | — | uncertain significance |
| rs768999196 | 1:179,989,304 | T/C | — | uncertain significance |
| rs554477532 | 1:179,989,328 | A/G | — | uncertain significance |
| rs749062883 | 1:179,989,432 | T/G | — | uncertain significance |
| rs1012202191 | 1:179,989,484 | A/G | — | uncertain significance |
| rs556800091 | 1:179,989,501 | G/T | — | uncertain significance |
| rs138033359 | 1:179,989,560 | A/T | — | uncertain significance |
| rs371696567 | 1:179,989,575 | T/A | — | uncertain significance |
| rs770217090 | 1:179,989,583 | A/G | — | uncertain significance |
| rs1340292756 | 1:179,989,614 | C/T | — | uncertain significance |
| rs765951708 | 1:179,989,632 | A/C | — | uncertain significance |
| rs759501674 | 1:179,989,658 | A/T | — | uncertain significance |
| rs187144573 | 1:179,989,676 | C/T | — | uncertain significance |
| rs373436336 | 1:179,989,884 | G/A | — | uncertain significance |
| rs759242316 | 1:179,989,911 | A/T | — | uncertain significance |
| rs200622242 | 1:179,990,027 | C/A | — | uncertain significance |
| rs761749522 | 1:179,990,063 | G/A | — | uncertain significance |
| rs375082306 | 1:179,990,127 | A/G | — | uncertain significance |
| rs763347506 | 1:179,991,833 | G/A | — | uncertain significance |
| rs771903400 | 1:179,991,871 | C/T | — | uncertain significance |
| rs746936469 | 1:179,991,883 | G/A | — | uncertain significance |
| rs767827548 | 1:179,991,913 | T/A | — | uncertain significance |
| rs1655413213 | 1:179,991,928 | G/A | — | uncertain significance |
| rs139727510 | 1:179,993,559 | C/T | — | uncertain significance |
| rs1655537738 | 1:179,993,601 | A/G | — | uncertain significance |
| rs151176623 | 1:179,996,413 | G/A | intron variant | — |
| rs184976364 | 1:179,996,783 | G/A | intron variant | — |
| rs201829907 | 1:180,000,562 | G/A | — | uncertain significance |
| rs188103945 | 1:180,000,578 | A/G | — | uncertain significance |
| rs2526424838 | 1:180,000,613 | T/G | — | uncertain significance |
| rs1170671063 | 1:180,000,619 | C/T | — | uncertain significance |
| rs1278281457 | 1:180,003,002 | C/T | — | uncertain significance |
| rs2526481658 | 1:180,003,043 | C/G | — | uncertain significance |
| rs762797190 | 1:180,003,079 | G/A | — | uncertain significance |
| rs1656185038 | 1:180,003,096 | A/G | — | likely benign |
| rs150353024 | 1:180,003,110 | C/T | — | uncertain significance |
| rs181893934 | 1:180,003,120 | G/A | — | uncertain significance |
| rs746595319 | 1:180,003,179 | C/G | — | uncertain significance |
| rs765842458 | 1:180,006,063 | T/C | — | uncertain significance |
| rs781164773 | 1:180,010,321 | G/C | — | uncertain significance |
| rs2526647513 | 1:180,010,322 | C/T | — | uncertain significance |
| rs201107631 | 1:180,010,349 | G/A | — | uncertain significance |
| rs138458512 | 1:180,010,837 | G/A | — | uncertain significance |
| rs139888010 | 1:180,010,856 | G/T | — | likely benign |
| rs140855739 | 1:180,010,912 | C/T | — | uncertain significance |
| rs373395955 | 1:180,010,916 | C/G | — | uncertain significance |
| rs35589931 | 1:180,012,213 | A/G | — | likely benign |
| rs760504109 | 1:180,012,215 | A/G | — | uncertain significance |
| rs1348419298 | 1:180,012,230 | G/A | — | likely benign |
| rs143015799 | 1:180,012,272 | C/T | — | uncertain significance |
Showing 100 of 179 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.