CEP170
centrosomal protein 170
Summary
The product of this gene is a component of the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. During interphase, the encoded protein localizes to the sub-distal appendages of mature centrioles, which are microtubule-based structures thought to help organize centrosomes. During mitosis, the protein associates with spindle microtubules near the centrosomes. The protein interacts with and is phosphorylated by polo-like kinase 1, and functions in maintaining microtubule organization and cell morphology. The human genome contains a putative transcribed pseudogene. Several alternatively spliced transcript variants of this gene have been found, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
Known Variants89 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1377265507 | 1:243,289,903 | T/C | — | uncertain significance |
| rs2053725846 | 1:243,289,919 | G/C | — | uncertain significance |
| rs779506534 | 1:243,289,924 | G/A | — | uncertain significance |
| rs768488931 | 1:243,289,936 | C/T | — | uncertain significance |
| rs561098524 | 1:243,289,956 | G/A | — | uncertain significance |
| rs12047774 | 1:243,299,436 | T/A | — | benign |
| rs1238396743 | 1:243,299,469 | A/G | — | uncertain significance |
| rs1285974924 | 1:243,299,470 | T/C | — | uncertain significance |
| rs768800587 | 1:243,299,488 | T/C | — | uncertain significance |
| rs774432366 | 1:243,299,503 | C/T | — | uncertain significance |
| rs1177737655 | 1:243,299,519 | A/T | — | uncertain significance |
| rs2055638884 | 1:243,303,319 | A/G | — | uncertain significance |
| rs774260650 | 1:243,303,351 | T/C | — | uncertain significance |
| rs2055645848 | 1:243,303,367 | T/A | — | uncertain significance |
| rs2546410897 | 1:243,305,749 | C/T | — | uncertain significance |
| rs183936101 | 1:243,319,561 | G/A | — | likely benign |
| rs2148463726 | 1:243,319,585 | G/C | — | uncertain significance |
| rs148125417 | 1:243,319,611 | T/C | — | benign |
| rs563515185 | 1:243,319,625 | C/A | — | uncertain significance |
| rs764258155 | 1:243,319,635 | G/A | — | uncertain significance |
| rs2058304401 | 1:243,327,687 | A/G | — | uncertain significance |
| rs1337253591 | 1:243,327,691 | G/C | — | uncertain significance |
| rs1256810492 | 1:243,327,712 | T/C | — | uncertain significance |
| rs892278580 | 1:243,327,754 | T/C | — | uncertain significance |
| rs753831859 | 1:243,327,774 | G/A | — | uncertain significance |
| rs201167561 | 1:243,327,785 | G/A | — | likely benign |
| rs1178604041 | 1:243,327,802 | G/A | — | uncertain significance |
| rs183445002 | 1:243,327,936 | C/G | — | uncertain significance |
| rs767093525 | 1:243,328,023 | G/A | — | uncertain significance |
| rs371632564 | 1:243,328,041 | G/A | — | uncertain significance |
| rs2546730939 | 1:243,328,116 | C/A | — | uncertain significance |
| rs760437423 | 1:243,328,144 | T/G | — | uncertain significance |
| rs2546732293 | 1:243,328,147 | T/C | — | uncertain significance |
| rs1466189731 | 1:243,328,227 | C/A | — | uncertain significance |
| rs533826407 | 1:243,328,368 | T/C | — | uncertain significance |
| rs747765378 | 1:243,328,537 | G/A | — | uncertain significance |
| rs766724530 | 1:243,328,588 | G/A | — | uncertain significance |
| rs201082752 | 1:243,328,635 | C/T | — | likely benign |
| rs750149131 | 1:243,328,726 | G/A | — | uncertain significance |
| rs746937922 | 1:243,328,740 | A/G | — | uncertain significance |
| rs943206980 | 1:243,328,779 | T/G | — | uncertain significance |
| rs749553819 | 1:243,328,788 | T/A | — | uncertain significance |
| rs771310869 | 1:243,328,794 | C/A | — | uncertain significance |
| rs1296359113 | 1:243,328,869 | T/G | — | uncertain significance |
| rs2546755640 | 1:243,328,902 | G/C | — | uncertain significance |
| rs756887783 | 1:243,328,993 | C/T | — | uncertain significance |
| rs1333798629 | 1:243,329,008 | C/G | — | uncertain significance |
| rs753350371 | 1:243,329,068 | T/G | — | uncertain significance |
| rs1323845900 | 1:243,329,072 | C/G | — | uncertain significance |
| rs373135678 | 1:243,329,085 | G/A | — | uncertain significance |
| rs771189595 | 1:243,329,109 | G/C | — | uncertain significance |
| rs765975439 | 1:243,329,159 | C/T | — | uncertain significance |
| rs568150019 | 1:243,329,160 | A/G | — | uncertain significance |
| rs371532545 | 1:243,329,200 | G/C | — | uncertain significance |
| rs749391059 | 1:243,329,206 | C/G | — | uncertain significance |
| rs200128378 | 1:243,329,349 | C/T | — | uncertain significance |
| rs201085675 | 1:243,329,376 | C/T | — | uncertain significance |
| rs2546821112 | 1:243,332,931 | A/C | — | uncertain significance |
| rs912516536 | 1:243,332,934 | C/G | — | uncertain significance |
| rs764437775 | 1:243,332,942 | G/A | — | uncertain significance |
| rs374384295 | 1:243,332,977 | T/C | — | uncertain significance |
| rs372933233 | 1:243,333,012 | C/G | — | uncertain significance |
| rs745312158 | 1:243,333,029 | G/A | — | uncertain significance |
| rs765050786 | 1:243,336,070 | C/A | — | uncertain significance |
| rs2789111 | 1:243,346,404 | T/G | — | — |
| rs775592565 | 1:243,349,132 | C/G | — | uncertain significance |
| rs190469777 | 1:243,349,352 | C/T | — | uncertain significance |
| rs370769304 | 1:243,349,374 | T/A | — | uncertain significance |
| rs766082632 | 1:243,349,604 | A/G | — | uncertain significance |
| rs756652702 | 1:243,349,629 | G/A | — | uncertain significance |
| rs200946656 | 1:243,349,655 | C/T | — | uncertain significance |
| rs2547019134 | 1:243,349,706 | C/T | — | uncertain significance |
| rs957369421 | 1:243,354,440 | C/T | — | uncertain significance |
| rs372623014 | 1:243,354,503 | A/G | — | uncertain significance |
| rs771647173 | 1:243,354,508 | T/C | — | uncertain significance |
| rs1355200576 | 1:243,354,554 | C/T | — | uncertain significance |
| rs2547089924 | 1:243,354,563 | G/T | — | uncertain significance |
| rs972747011 | 1:243,354,615 | A/T | — | uncertain significance |
| rs1483268761 | 1:243,354,637 | G/A | — | uncertain significance |
| rs2547093915 | 1:243,354,694 | G/A | — | uncertain significance |
| rs374680151 | 1:243,362,485 | T/C | — | uncertain significance |
| rs984362037 | 1:243,363,896 | A/T | — | uncertain significance |
| rs2171973 | 1:243,383,636 | A/T | upstream gene variant | — |
| rs185188939 | 1:243,385,102 | T/C | — | uncertain significance |
| rs2547441202 | 1:243,385,112 | G/C | — | uncertain significance |
| rs1565440 | 1:243,387,788 | G/A | upstream gene variant | — |
| rs10926973 | 1:243,388,370 | A/T | intron variant | — |
| rs776034367 | 1:243,388,539 | C/T | — | uncertain significance |
| rs71537331 | 1:243,418,182 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.