Details
| Name | R38X |
| Type | somatic mutation |
| Species | Homo sapiens |
| Tissue | blood samples |
| Experiment Method | qPCR |
| Up/Down | Down |
| Pro/Anti | Anti |
| Funtion Description | Here we show that loss of LOC387715 is insufficient to explain AMD susceptibility, since a nonsense mutation (R38X) in this gene that leads to loss of its message resides in a protective haplotype. At the same time, the common disease haplotype tagged by |
| Regulation Gene | LOC387715 |
| Year | 2010 |
| Pubmed ID | 20140183 |
| Title | Genetic and Functional Dissection of HTRA1 and LOC387715 in Age-Related Macular Degeneration |
| Drug | NA |
| Disease | AMD |
| Environment Factors | NA |
| Circulating | 1 |
| Variant | somatic mutation |
| High-throughput | NA |