SMC4
structural maintenance of chromosomes 4
Summary
This gene belongs to the 'structural maintenance of chromosomes' (SMC) gene family. Members of this gene family play a role in two changes in chromosome structure during mitotic segregation of chromosomes- chromosome condensation and sister chromatid cohesion. The protein encoded by this gene is likely a subunit of the 13S condensin complex, which is involved in chromosome condensation. A pseudogene related to this gene is located on chromosome 2. [provided by RefSeq, Jun 2016]
Known Variants59 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs16831207 | 3:160,116,807 | T/C | — | — |
| rs748289006 | 3:160,118,643 | C/T | — | uncertain significance |
| rs760664370 | 3:160,118,672 | C/T | — | uncertain significance |
| rs750115639 | 3:160,118,702 | G/A | — | likely benign |
| rs41272947 | 3:160,119,525 | G/A | regulatory region variant | — |
| rs773190058 | 3:160,119,766 | C/T | — | uncertain significance |
| rs769692747 | 3:160,119,873 | T/C | — | uncertain significance |
| rs765021210 | 3:160,122,195 | A/G | — | uncertain significance |
| rs199673844 | 3:160,122,270 | A/G | — | uncertain significance |
| rs7634108 | 3:160,124,695 | C/A | downstream gene variant | — |
| rs144797751 | 3:160,129,834 | C/T | — | uncertain significance |
| rs2305407 | 3:160,130,110 | G/A | splice region variant | — |
| rs2108466987 | 3:160,130,157 | A/G | — | uncertain significance |
| rs201491085 | 3:160,130,211 | G/C | — | uncertain significance |
| rs763109454 | 3:160,130,232 | A/G | — | uncertain significance |
| rs746675929 | 3:160,131,280 | A/G | — | uncertain significance |
| rs780975998 | 3:160,131,303 | G/C | — | uncertain significance |
| rs33999879 | 3:160,131,347 | A/G | missense variant | — |
| rs1451761 | 3:160,131,667 | T/G | regulatory region variant | — |
| rs1429052732 | 3:160,132,164 | T/A | — | uncertain significance |
| rs185163426 | 3:160,132,169 | T/C | — | uncertain significance |
| rs763620879 | 3:160,132,255 | A/G | — | uncertain significance |
| rs12632030 | 3:160,133,339 | T/C | intron variant | — |
| rs747733875 | 3:160,134,048 | T/C | — | uncertain significance |
| rs1716572906 | 3:160,134,058 | T/C | — | uncertain significance |
| rs145849553 | 3:160,135,556 | G/A | — | uncertain significance |
| rs376065426 | 3:160,135,560 | G/T | — | uncertain significance |
| rs1236643072 | 3:160,135,586 | G/T | — | uncertain significance |
| rs767262021 | 3:160,137,192 | A/G | — | uncertain significance |
| rs2473686862 | 3:160,137,222 | T/C | — | uncertain significance |
| rs2473687112 | 3:160,137,258 | G/A | — | uncertain significance |
| rs200532011 | 3:160,137,281 | A/G | — | likely benign |
| rs558331262 | 3:160,138,619 | T/A | — | uncertain significance |
| rs1717089954 | 3:160,138,622 | C/T | — | uncertain significance |
| rs763281670 | 3:160,138,678 | G/T | — | uncertain significance |
| rs771151033 | 3:160,141,213 | A/G | — | uncertain significance |
| rs531207437 | 3:160,142,665 | T/C | — | uncertain significance |
| rs143003540 | 3:160,142,685 | G/A | — | uncertain significance |
| rs1224047800 | 3:160,142,752 | G/A | — | uncertain significance |
| rs1182837980 | 3:160,142,773 | G/A | — | uncertain significance |
| rs138000709 | 3:160,143,943 | A/G | — | benign |
| rs572601089 | 3:160,146,591 | C/T | — | uncertain significance |
| rs758598786 | 3:160,146,601 | A/G | — | uncertain significance |
| rs780744552 | 3:160,148,408 | C/T | — | likely benign |
| rs534719328 | 3:160,148,452 | A/G | — | uncertain significance |
| rs373464258 | 3:160,148,832 | G/C | — | uncertain significance |
| rs2473750193 | 3:160,148,847 | C/T | — | uncertain significance |
| rs141248900 | 3:160,148,854 | A/G | — | uncertain significance |
| rs2473754952 | 3:160,149,497 | G/C | — | uncertain significance |
| rs368691169 | 3:160,149,530 | A/G | — | uncertain significance |
| rs754811455 | 3:160,149,561 | G/A | — | likely benign |
| rs756172723 | 3:160,149,574 | G/A | — | uncertain significance |
| rs200445610 | 3:160,149,587 | G/T | — | uncertain significance |
| rs11548868 | 3:160,149,596 | G/A | — | uncertain significance |
| rs2473755771 | 3:160,149,602 | T/C | — | uncertain significance |
| rs1237894968 | 3:160,150,852 | A/G | — | uncertain significance |
| rs916389366 | 3:160,150,938 | G/A | — | uncertain significance |
| rs762280367 | 3:160,151,485 | G/A | — | uncertain significance |
| rs386352362 | 3:160,151,579 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.