SEPTIN3
septin 3
Summary
This gene belongs to the septin family of GTPases. Members of this family are required for cytokinesis. Expression is upregulated by retinoic acid in a human teratocarcinoma cell line. The specific function of this gene has not been determined. Alternative splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, May 2018]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs763260 | 22:42,375,228 | A/T | — | — |
| rs140094386 | 22:42,377,715 | C/T | — | benign |
| rs886854169 | 22:42,377,804 | A/G | — | uncertain significance |
| rs897081708 | 22:42,382,047 | C/T | — | uncertain significance |
| rs200659820 | 22:42,382,069 | G/A | — | uncertain significance |
| rs200257467 | 22:42,383,245 | G/A | — | uncertain significance |
| rs2518916596 | 22:42,383,271 | C/G | — | uncertain significance |
| rs1373809087 | 22:42,383,649 | T/C | — | uncertain significance |
| rs772814428 | 22:42,383,706 | G/A | — | uncertain significance |
| rs763909793 | 22:42,385,614 | G/A | — | uncertain significance |
| rs2078271459 | 22:42,385,684 | A/G | — | uncertain significance |
| rs138798060 | 22:42,386,838 | C/T | intron variant | — |
| rs373798153 | 22:42,388,727 | G/C | — | uncertain significance |
| rs369032977 | 22:42,390,717 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.