| Name |
p.Y402H
|
| Type |
somatic mutation
|
| Species |
Homo sapiens
|
| Tissue |
blood samples
|
| Experiment Method |
qPCR
|
| Up/Down |
NA
|
| Pro/Anti |
NA
|
| Funtion Description |
Early identification of individuals with genetic risk variants CFH p.Y402H and ARMS2 p.A69S is clinically important for the definition of age-related macular degeneration status. High-resolution DNA melting is homogenous, accurate and rapid method for CFH
|
| Regulation Gene |
ARMS2
|
| Year |
2012
|
| Pubmed ID |
22706242
|
| Title |
Rapid detection of CFH (p.Y402H) and ARMS2 (p.A69S) polymorphisms in age-related macular degeneration using high-resolution melting analysis
|
| Drug |
NA
|
| Disease |
age-related macular degeneration
|
| Environment Factors |
NA
|
| Circulating |
1
|
| Variant |
somatic mutation
|
| High-throughput |
NA
|