SP100
SP100 nuclear antigen
Summary
This gene encodes a subnuclear organelle and major component of the PML (promyelocytic leukemia)-SP100 nuclear bodies. PML and SP100 are covalently modified by the SUMO-1 modifier, which is considered crucial to nuclear body interactions. The encoded protein binds heterochromatin proteins and is thought to play a role in tumorigenesis, immunity, and gene regulation. Alternatively spliced variants have been identified for this gene; one of which encodes a high-mobility group protein. [provided by RefSeq, Aug 2011]
Known Variants48 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs921733604 | 2:231,281,025 | G/T | — | uncertain significance |
| rs768667368 | 2:231,307,706 | C/A | — | uncertain significance |
| rs2473174507 | 2:231,307,753 | A/C | — | uncertain significance |
| rs1449365387 | 2:231,308,906 | C/G | — | uncertain significance |
| rs748141074 | 2:231,309,004 | G/A | — | uncertain significance |
| rs2473189411 | 2:231,309,046 | A/G | — | likely benign |
| rs140854075 | 2:231,311,570 | A/G | — | likely benign |
| rs1241577912 | 2:231,311,584 | G/A | — | uncertain significance |
| rs2063841933 | 2:231,313,806 | C/T | — | uncertain significance |
| rs766236977 | 2:231,313,824 | G/A | — | likely benign |
| rs1184453405 | 2:231,314,279 | C/A | — | uncertain significance |
| rs1398927919 | 2:231,314,285 | C/T | — | uncertain significance |
| rs186304088 | 2:231,314,894 | C/G | — | uncertain significance |
| rs116484154 | 2:231,326,031 | G/A | — | likely benign |
| rs2473384796 | 2:231,326,051 | G/A | — | uncertain significance |
| rs772049350 | 2:231,326,093 | G/C | — | uncertain significance |
| rs143684378 | 2:231,326,094 | C/A | — | uncertain significance |
| rs538972607 | 2:231,327,174 | G/A | — | likely benign |
| rs35985492 | 2:231,327,184 | C/T | — | benign |
| rs768093522 | 2:231,328,811 | A/G | — | uncertain significance |
| rs758471253 | 2:231,328,848 | G/A | — | uncertain significance |
| rs138908890 | 2:231,331,880 | C/T | — | uncertain significance |
| rs766779368 | 2:231,331,885 | G/A | — | uncertain significance |
| rs772985982 | 2:231,334,730 | G/T | — | uncertain significance |
| rs1384466369 | 2:231,334,772 | A/C | — | uncertain significance |
| rs141411612 | 2:231,334,774 | C/A | — | uncertain significance |
| rs2065371091 | 2:231,338,084 | T/A | — | uncertain significance |
| rs1252832518 | 2:231,338,154 | G/C | — | uncertain significance |
| rs150147150 | 2:231,338,156 | G/A | splice region variant | — |
| rs752716431 | 2:231,339,114 | A/G | — | uncertain significance |
| rs762341702 | 2:231,359,155 | A/G | — | uncertain significance |
| rs750738035 | 2:231,359,157 | G/A | — | uncertain significance |
| rs766399412 | 2:231,371,039 | A/G | — | uncertain significance |
| rs756225173 | 2:231,371,095 | G/A | — | uncertain significance |
| rs769217106 | 2:231,371,126 | G/A | — | uncertain significance |
| rs748609427 | 2:231,371,131 | G/A | — | uncertain significance |
| rs2473821977 | 2:231,375,874 | A/T | — | uncertain significance |
| rs1450702486 | 2:231,404,003 | G/A | — | uncertain significance |
| rs779439924 | 2:231,404,049 | C/G | — | uncertain significance |
| rs2473955393 | 2:231,405,607 | A/G | — | uncertain significance |
| rs772184779 | 2:231,406,080 | C/A | — | uncertain significance |
| rs753425520 | 2:231,406,674 | A/C | — | uncertain significance |
| rs201681589 | 2:231,406,681 | G/A | — | uncertain significance |
| rs200000871 | 2:231,406,689 | G/A | — | likely benign |
| rs1200038190 | 2:231,407,579 | A/T | — | uncertain significance |
| rs375735306 | 2:231,407,584 | C/G | — | likely benign |
| rs759076510 | 2:231,407,629 | G/A | — | uncertain significance |
| rs2473965396 | 2:231,407,650 | A/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.