DSN1
DSN1 component of MIS12 kinetochore complex
Summary
This gene encodes a kinetochore protein that functions as part of the minichromosome instability-12 centromere complex. The encoded protein is required for proper kinetochore assembly and progression through the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]
Known Variants17 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs753349407 | 20:35,381,297 | T/C | — | uncertain significance |
| rs140941590 | 20:35,383,182 | C/A | — | uncertain significance |
| rs1390343287 | 20:35,383,194 | C/G | — | uncertain significance |
| rs61739070 | 20:35,383,233 | T/C | — | benign |
| rs191089619 | 20:35,384,173 | G/T | — | uncertain significance |
| rs760600951 | 20:35,384,203 | A/C | — | uncertain significance |
| rs1194126500 | 20:35,386,973 | T/G | — | uncertain significance |
| rs944700439 | 20:35,386,992 | A/T | — | uncertain significance |
| rs769721648 | 20:35,390,877 | C/T | — | uncertain significance |
| rs780232179 | 20:35,396,436 | C/T | — | uncertain significance |
| rs769936599 | 20:35,399,311 | C/T | — | uncertain significance |
| rs141160975 | 20:35,399,320 | G/A | — | uncertain significance |
| rs750211417 | 20:35,399,342 | G/A | — | uncertain significance |
| rs2518726573 | 20:35,399,348 | A/G | — | uncertain significance |
| rs2518727533 | 20:35,399,527 | A/T | — | uncertain significance |
| rs2518727553 | 20:35,399,530 | A/G | — | uncertain significance |
| rs34428971 | 20:35,399,559 | T/C | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.