Basic information of SP140 :
| Official Symbol of Gene | SP140 |
| Species | Homo sapiens |
| Entrez Gene ID | 11262 |
| Official Full Name | SP140 nuclear body protein |
| Also known as | LYSP100; LYSP100-A; LYSP100-B |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000079263 MIM:608602; AllianceGenome:HGNC:17133 |
| Map Location | 2q37.1 |
| Variation Type | SNP |
| refSNP ID | rs28445040 |
Sample information of multiple sclerosis:
| Detected Sample | blood |
| Sample Detail | peripheral blood mononuclear cells |
| Detected Method | qPCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | N/A |
| Sample Size | 4384 MS patients and 3197 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 26152201 |
| Year | 2015 |
| Title | A functional variant that affects exon-skipping and protein expression of SP140 as genetic mechanism predisposing to multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | rs28445040 variant was the causal factor for skipping of exon 7. |
| Mechanism/Pathway | N/A |
