CENPU
centromere protein U
Summary
The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). MLF1IP, or CENPU, is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1432496511 | 4:185,616,470 | T/A | — | uncertain significance |
| rs149669773 | 4:185,616,473 | T/C | — | uncertain significance |
| rs572858058 | 4:185,616,479 | A/G | — | uncertain significance |
| rs146685253 | 4:185,616,485 | C/T | — | likely benign |
| rs2531092436 | 4:185,616,492 | G/A | — | uncertain significance |
| rs150887446 | 4:185,616,501 | C/T | — | uncertain significance |
| rs1760245288 | 4:185,616,551 | T/C | — | uncertain significance |
| rs766650187 | 4:185,618,854 | G/A | — | uncertain significance |
| rs539311347 | 4:185,618,881 | C/T | — | likely benign |
| rs1312589108 | 4:185,618,904 | C/G | — | uncertain significance |
| rs770944498 | 4:185,618,950 | G/C | — | uncertain significance |
| rs141051170 | 4:185,622,002 | T/C | — | uncertain significance |
| rs773914779 | 4:185,623,290 | G/A | — | uncertain significance |
| rs537896899 | 4:185,623,564 | C/A | — | likely benign |
| rs755499591 | 4:185,634,157 | T/C | — | uncertain significance |
| rs371081147 | 4:185,637,568 | C/A | — | uncertain significance |
| rs148589962 | 4:185,637,664 | C/T | — | uncertain significance |
| rs759966708 | 4:185,637,676 | T/C | — | likely benign |
| rs758003193 | 4:185,637,687 | C/T | — | uncertain significance |
| rs1561139190 | 4:185,638,315 | T/G | — | uncertain significance |
| rs772762451 | 4:185,638,316 | C/T | — | uncertain significance |
| rs2130392 | 4:185,639,169 | G/C | — | — |
| rs561625231 | 4:185,646,168 | G/A | — | uncertain significance |
| rs1275734206 | 4:185,646,191 | T/C | — | uncertain significance |
| rs1217574067 | 4:185,646,196 | C/G | — | uncertain significance |
| rs779575377 | 4:185,650,090 | C/T | — | uncertain significance |
| rs139677215 | 4:185,650,152 | T/A | — | uncertain significance |
| rs750924139 | 4:185,650,168 | G/A | — | uncertain significance |
| rs148908002 | 4:185,652,115 | G/A | — | uncertain significance |
| rs917994568 | 4:185,655,183 | G/A | — | uncertain significance |
| rs772597684 | 4:185,655,207 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.