SEPTIN8
septin 8
Summary
This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1755837631 | 5:132,096,495 | T/A | — | uncertain significance |
| rs151058061 | 5:132,096,569 | G/T | — | uncertain significance |
| rs768836270 | 5:132,096,614 | C/T | — | uncertain significance |
| rs778951512 | 5:132,096,663 | G/C | — | uncertain significance |
| rs377730326 | 5:132,097,172 | C/T | — | uncertain significance |
| rs768263046 | 5:132,097,208 | G/A | — | uncertain significance |
| rs374876169 | 5:132,097,240 | T/G | — | uncertain significance |
| rs1340600594 | 5:132,097,247 | G/A | — | uncertain significance |
| rs569539799 | 5:132,097,292 | C/T | — | uncertain significance |
| rs1331715559 | 5:132,097,528 | C/G | — | uncertain significance |
| rs368442418 | 5:132,097,570 | C/T | — | uncertain significance |
| rs373508330 | 5:132,098,187 | C/T | — | uncertain significance |
| rs772681587 | 5:132,098,216 | G/A | — | uncertain significance |
| rs375970187 | 5:132,098,270 | A/G | — | uncertain significance |
| rs372178233 | 5:132,099,459 | G/A | — | uncertain significance |
| rs2532111226 | 5:132,099,465 | A/C | — | uncertain significance |
| rs751928524 | 5:132,099,510 | G/A | — | uncertain significance |
| rs369943611 | 5:132,099,950 | C/T | — | uncertain significance |
| rs549922059 | 5:132,099,970 | T/A | — | uncertain significance |
| rs1240119774 | 5:132,100,010 | G/A | — | uncertain significance |
| rs199555629 | 5:132,100,013 | G/A | — | uncertain significance |
| rs747374930 | 5:132,100,022 | C/T | — | uncertain significance |
| rs376068350 | 5:132,100,063 | G/A | — | uncertain significance |
| rs1581170364 | 5:132,101,104 | C/T | — | uncertain significance |
| rs199574441 | 5:132,101,139 | G/A | — | uncertain significance |
| rs2532129056 | 5:132,101,168 | G/C | — | uncertain significance |
| rs372327584 | 5:132,101,202 | C/T | — | uncertain significance |
| rs1184200453 | 5:132,101,206 | G/T | — | uncertain significance |
| rs113010607 | 5:132,105,698 | T/C | intron variant | — |
| rs141943281 | 5:132,105,839 | A/G | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.