MAU2
MAU2 sister chromatid cohesion factor
Summary
Enables cohesin loader activity. Involved in maintenance of mitotic sister chromatid cohesion. Located in chromatin and nuclear body. Part of Scc2-Scc4 cohesin loading complex. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1317032108 | 19:19,431,700 | C/G | — | uncertain significance |
| rs770904152 | 19:19,431,855 | A/T | — | uncertain significance |
| rs4239639 | 19:19,435,876 | G/A | upstream gene variant | — |
| rs111234557 | 19:19,436,229 | C/G | upstream gene variant | — |
| rs192704205 | 19:19,437,166 | G/A | intron variant | — |
| rs145561518 | 19:19,442,104 | C/A | — | — |
| rs8103197 | 19:19,443,466 | C/T | intron variant | — |
| rs2011503 | 19:19,443,986 | T/G | — | — |
| rs12463074 | 19:19,445,869 | G/A | intron variant | — |
| rs2513037157 | 19:19,446,527 | T/C | — | uncertain significance |
| rs780458213 | 19:19,453,352 | C/G | — | likely benign |
| rs2513058019 | 19:19,453,670 | T/G | — | uncertain significance |
| rs552627506 | 19:19,455,689 | C/T | — | uncertain significance |
| rs182611493 | 19:19,458,388 | A/G | intron variant | — |
| rs548311946 | 19:19,463,750 | G/A | — | — |
| rs2513090909 | 19:19,466,088 | G/T | — | uncertain significance |
| rs1488175327 | 19:19,466,195 | A/C | — | uncertain significance |
| rs2048166222 | 19:19,466,205 | G/A | — | uncertain significance |
| rs369902980 | 19:19,466,538 | G/A | — | uncertain significance |
| rs117970794 | 19:19,468,655 | C/T | downstream gene variant | — |
| rs1985109 | 19:19,469,907 | G/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.