Details
| Name | Y402H |
| Type | alternative splicing |
| Species | Homo sapiens |
| Tissue | blood samples |
| Experiment Method | qPCR |
| Up/Down | NA |
| Pro/Anti | Pro |
| Funtion Description | A large number of human genetic studies have associated a common variant (Y402H) of complement factor H (CFH) with a highly significant increase in AMD risk. CFH is a modular protein with 20 homologous short consensus repeats (SCRs). The Y402H variant is |
| Regulation Gene | CFH |
| Year | 2007 |
| Pubmed ID | 17580967 |
| Title | Biochemical analysis of a common human polymorphism associated with age-related macular degeneration. |
| Drug | NA |
| Disease | AMD |
| Environment Factors | NA |
| Circulating | 1 |
| Variant | SNP |
| High-throughput | NA |