aspsirna1960 details

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ASPsiRNA information siRNA Id:aspsirna1960
siRNA Name: siRNA-3
Mismatch information Wild siRNA (As strand 3'->5'):GUUUCCCACUCGCACCAGU
ASP-siRNA (As strand 3'->5'):GUUUCCCACUCGCACCAGG
Mismatch position in siRNA: G1U
Gene Information Gene Name Collagen type VI alpha 3 (COL6A3)
Target Sequence (5'->3'):UCGGCAGCAUCGGGCCAAAGGGUAUUC
Wild allele (5'->3'):CAAAGGGUGAGCGUGGUCA
Mutant allele (5'->3'):CAAAGGGUGAGCGUGGUCC
Position of siRNA on target gene: 4601-4627
Respective Gene/Protein Resources GenBank Accession:NM_057166.4
Cytogenic location:2q37.3
Chromosomal coordinates:2:238,232,654-238,322,849
UniProt ID:P12111
HUGO ID:2213
Reference SNp(RefSNP): NA
Disease/Mutation information Target Mutation: (IVS16DS plus 1G-A) in intron 16
Matation type/variant: Single nucleotide variant
Mutation at gene level: NA
Pathogenic status of mutation: Pathogenic
Disease:Dominant ullrich muscular dystrophy
Clinical Resources ClinVar ID:17152
KEGG disease ID:H01341
OMIM ID: 254090
COSMIC: COL6A3
DECIPHER: COL6A3
GeneTests: COL6A3
ASP siRNA details Mutant allele (5'->3'): CAAAGGGUGAGCGUGGUCC
ASP-siRNA (As strand 3'->5'):GUUUCCCACUCGCACCAGG
Percentage efficacy of ASP-siRNA for mutant allele:NA
Wild allele (5'->3'): CAAAGGGUGAGCGUGGUCA
ASP-siRNA (As strand 3'->5'):GUUUCCCACUCGCACCAGG
Percentage efficacy of ASP-siRNA for wild allele:NA
Relative difference:70
Wild siRNA details Wild allele (5'->3'): CAAAGGGUGAGCGUGGUCA
Wild siRNA (As strand 3'->5'):GUUUCCCACUCGCACCAGU
Percentage efficacy of wild siRNA for wild allele:43
Wild allele (5'->3'): CAAAGGGUGAGCGUGGUCA
ASP-siRNA (As strand 3'->5'):GUUUCCCACUCGCACCAGG
Percentage efficacy of Wild sirna for mutant allele:12
Relative difference :31
General information Mismatch incorporated in siRNA/Target:siRNA
Cell-line used: HEK293
Experimental technique used: Western blot
Transfection method: Lipofectamine 2000
siRNA expression method: Invitrogen
Post-transfection duration: 48 hours
Concentration used:5nM
Reference:24518369
Delivery method:Transfection
Article title:siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy.
Authors:Bolduc V, Zou Y, Ko D, Bönnemann CG.
Journal Reference:Mol Ther Nucleic Acids. 2014 Feb 11;3:e147. doi: 10.1038/mtna.2013.74.