CENPK
centromere protein K
Summary
CENPK is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs749758005 | 5:64,814,330 | C/T | — | uncertain significance |
| rs772376049 | 5:64,814,340 | C/A | — | uncertain significance |
| rs542463893 | 5:64,814,429 | T/C | — | uncertain significance |
| rs1210752666 | 5:64,814,450 | T/C | — | uncertain significance |
| rs759382373 | 5:64,817,336 | G/T | — | uncertain significance |
| rs116540977 | 5:64,823,431 | C/T | intron variant | — |
| rs755218264 | 5:64,824,837 | G/A | — | uncertain significance |
| rs140748564 | 5:64,824,956 | T/C | — | uncertain significance |
| rs748850005 | 5:64,824,974 | T/A | — | uncertain significance |
| rs6891955 | 5:64,838,758 | G/C | intron variant | — |
| rs112535439 | 5:64,846,897 | C/A | — | — |
| rs1425260470 | 5:64,847,417 | C/G | — | uncertain significance |
| rs749320661 | 5:64,847,462 | A/T | — | uncertain significance |
| rs2482237830 | 5:64,848,328 | T/C | — | uncertain significance |
| rs1750714903 | 5:64,850,639 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.