| | |
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| ASPsiRNA information |
siRNA Id: | aspsirna0973
|
|
siRNA Name: | d7
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | NA
|
|
ASP-siRNA (As strand 3'->5'): | GUCGUCGUCGUCGUCGUCGUC
|
|
Mismatch position in siRNA: | NA |
| Gene Information |
Gene Name | Ataxin-3 (ATXN3) |
|
Target Sequence (5'->3'): | AGCAGCAAAAGCAGCAACAGCAGCAGCAGCAG
|
|
Wild allele (5'->3'): | NA
|
|
Mutant allele (5'->3'): | CAGCAGCAGCAGCAGCAGCAG
|
|
Position of siRNA on target gene: | 278-298
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_001164774.1 |
| Cytogenic location: | 14q32.12 |
| Chromosomal coordinates: | 14:92,524,895-92,572,964 |
| UniProt ID: | P54252 |
| HUGO ID: | 7106 |
|
Reference SNp(RefSNP): | rs19392292 |
| Disease/Mutation information |
Target Mutation: | c.209_211CAG(8_36),(p.Gln298_Gln305=)
|
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Matation type/variant: | Microsatellite/synonymous variant
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Mutation at gene level: | NG_008198.2:g.40588_40590CAG(8_36)
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Pathogenic status of mutation: | Risk factor
|
|
Disease: | Parkinsons disease (PD) |
| Clinical Resources |
ClinVar ID: | 3551 |
|
KEGG disease ID: | H00056 |
|
OMIM ID: | 168600 |
|
COSMIC: | ATXN3 |
|
DECIPHER: | ATXN3 |
|
GeneTests: | ATXN3 |
| ASP siRNA details |
Mutant allele (5'->3'): | CAGCAGCAGCAGCAGCAGCAG
|
|
ASP-siRNA (As strand 3'->5'): | GUCGUCGUCGUCGUCGUCGUC
|
|
Percentage efficacy of ASP-siRNA for mutant allele: | 70
|
|
Wild allele (5'->3'): | NA
|
|
ASP-siRNA (As strand 3'->5'): | GUCGUCGUCGUCGUCGUCGUC
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 30
|
|
Relative difference: | 40
|
| Wild siRNA details |
Wild allele (5'->3'): | NA
|
|
Wild siRNA (As strand 3'->5'): | NA
|
|
Percentage efficacy of wild siRNA for wild allele: | NA
|
|
Wild allele (5'->3'): | NA
|
|
ASP-siRNA (As strand 3'->5'): | GUCGUCGUCGUCGUCGUCGUC
|
|
Percentage efficacy of Wild sirna for mutant allele: | NA
|
|
Relative difference : | NA
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | Fibroblast |
| Experimental technique used: | RT-PCR |
| Transfection method: | Lipofectamine 2000 |
| siRNA expression method: | Metabion |
| Post-transfection duration: | 24 hours |
| Concentration used: | 20nM |
| Reference: | 21427085 |
| Delivery method: | Transfection |
'| Article title: | Inhibition of mutant huntingtin expression by RNA duplex targeting expanded CAG repeats. |
'| Authors: | Fiszer A, Mykowska A, Krzyzosiak WJ. |
'| Journal Reference: | Nucleic Acids Res. 2011 Jul;39(13):5578-85. doi: 10.1093/nar/gkr156. Epub 2011 Mar 22. |
'
