aspsirna0928 details

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ASPsiRNA information siRNA Id:aspsirna0928
siRNA Name: MJD1
Mismatch information Wild siRNA (As strand 3'->5'):CGUCCCCCUGGAUAGUCCU
ASP-siRNA (As strand 3'->5'):CGUCGCCCUGGAUAGUCCU
Mismatch position in siRNA: G15C
Gene Information Gene Name Ataxin-3 (ATXN3)
Target Sequence (5'->3'):CAGCAGCAGCAGCAGCAGCAGGGGGACCUAUCAGGA
Wild allele (5'->3'):GCAGGGGGACCUAUCAGGA
Mutant allele (5'->3'):GCAGCGGGACCUAUCAGGA
Position of siRNA on target gene: 298-316
Respective Gene/Protein Resources GenBank Accession:NM_004993.5
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=)
Matation type/variant: Microsatellite/missense variant
Mutation at gene level: NG_008198.2:g.40588_40590CAG(8_36)
Pathogenic status of mutation: Disease causing expanded CAG repeats
Disease:Machado-Joseph Disease (MJD)/Spinocerebellar ataxia type 3 (SCA3)
Clinical Resources ClinVar ID:3551
KEGG disease ID:H00063
OMIM ID: 109150
COSMIC: ATXN3
DECIPHER: ATXN3
GeneTests: ATXN3
ASP siRNA details Mutant allele (5'->3'): GCAGCGGGACCUAUCAGGA
ASP-siRNA (As strand 3'->5'):CGUCGCCCUGGAUAGUCCU
Percentage efficacy of ASP-siRNA for mutant allele:52
Wild allele (5'->3'): GCAGGGGGACCUAUCAGGA
ASP-siRNA (As strand 3'->5'):CGUCGCCCUGGAUAGUCCU
Percentage efficacy of ASP-siRNA for wild allele:94
Relative difference:-42
Wild siRNA details Wild allele (5'->3'): GCAGGGGGACCUAUCAGGA
Wild siRNA (As strand 3'->5'):CGUCCCCCUGGAUAGUCCU
Percentage efficacy of wild siRNA for wild allele:NA
Wild allele (5'->3'): GCAGGGGGACCUAUCAGGA
ASP-siRNA (As strand 3'->5'):CGUCGCCCUGGAUAGUCCU
Percentage efficacy of Wild sirna for mutant allele:NA
Relative difference :NA
General information Mismatch incorporated in siRNA/Target:siRNA
Cell-line used: 293T
Experimental technique used: Western blot
Transfection method: Lipofectamine Plus
siRNA expression method: Chemically synthesized
Post-transfection duration: 48 hours
Concentration used:10nM
Reference:15236410
Delivery method:Transfection
Article title:Sequence-dependent and independent inhibition specific for mutant ataxin-3 by small interfering RNA
Authors:Li Y, Yokota T, Matsumura R, Taira K, Mizusawa H
Journal Reference:Ann Neurol. 2004 Jul;56(1):124-9