Details
| Name | R163H |
| Type | somatic mutation |
| Species | Homo sapiens |
| Tissue | blood samples |
| Experiment Method | qPCR |
| Up/Down | NA |
| Pro/Anti | NA |
| Funtion Description | In addition, the most common COL15A1 variant, R163H, influenced the age of onset in adult (primary open angle glaucoma)POAG cases. RNA in situ hybridization of mouse eyes shows that Col15a1 is expressed in the multiple ocular structures including ciliary |
| Regulation Gene | COL15A1 |
| Year | 2013 |
| Pubmed ID | 23621901 |
| Title | Variations in COL15A1 and COL18A1 influence age of onset of primary open angle glaucoma |
| Drug | NA |
| Disease | primary open angle glaucoma |
| Environment Factors | NA |
| Circulating | 1 |
| Variant | somatic mutation |
| High-throughput | NA |