| Name |
rs7665116
|
| Type |
SNP
|
| Species |
Homo sapiens
|
| Tissue |
blood samples;SH-SY5Y and NTERA-2D1 cells
|
| Experiment Method |
Western Blotting,qPCR
|
| Up/Down |
NA
|
| Pro/Anti |
NA
|
| Funtion Description |
One SNP (rs7665116) was located in a highly conserved 233 bp region of intron 2. To determine whether rs7665116 is located in an alternative exon, we performed 5'-RLM-RACE from exon 3 and discovered multiple new transcripts that initiated from a common no
|
| Regulation Gene |
PPARGC1A
|
| Year |
2012
|
| Pubmed ID |
22589246
|
| Title |
A greatly extended PPARGC1A genomic locus encodes several new brain-specific isoforms and influences Huntington disease age of onset
|
| Drug |
NA
|
| Disease |
Huntington disease
|
| Environment Factors |
NA
|
| Circulating |
1
|
| Variant |
SNP
|
| High-throughput |
NA
|