| Entrez Gene ID | 1301 |
|---|---|
| Official Gene Symbol | COL11A1 (GeneCards) |
| Full name | collagen type XI alpha 1 chain |
| Location | 1p21.1 |
| Other ids | Vega : OTTHUMG00000010872 MIM : 120280 HGNC : HGNC:2186 Ensembl : ENSG00000060718 |
| Other names | STL2, COLL6, CO11A1 |
| Summary | This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009] |
Found 7 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 333 | 1301 | COL11A1 | 1 | 103467983 | 103467983 | Marshall syndrome | ABI3730 |
| 2138 | 1301 | COL11A1 | 1 | 103497270 | 103497270 | Asymptomatic | ABI3730 HiSeq X Ten |
| 2583 | 1301 | COL11A1 | 1 | 103591063 | 103591063 | Asymptomatic | ABI3730 HiSeq X Ten |
| 2713 | 1301 | COL11A1 | 1 | 103717721 | 103717721 | Cockayne syndrome | ABI3730 HiSeq X Ten |
| 2828 | 1301 | COL11A1 | 1 | 103923795 | 103923795 | Xeroderma Pigmentosum | ABI3730 HiSeq X Ten |
| 29515 | 1301 | COL11A1 | 1 | 103352554 | 103352554 | Autism Spectrum Disorders | ABI3730 HiSeq X Ten MiSeq |
| 29661 | 1301 | COL11A1 | 1 | 103380293 | 103380293 | Autism Spectrum Disorders | ABI3730 HiSeq X Ten MiSeq |