aspsirna0951 details

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ASPsiRNA information siRNA Id:aspsirna0951
siRNA Name: K12-Arg135Thr-4
Mismatch information Wild siRNA (As strand 3'->5'):UUUUAGAAUUACUAUCUAA
ASP-siRNA (As strand 3'->5'):UUUUAGAAUUACUAUGUAA
Mismatch position in siRNA: G4C
Gene Information Gene Name Keratin 12 (KRT12)
Target Sequence (5'->3'):GAAAAAGAAACTATGCAAAATCTTAATGATAG
Wild allele (5'->3'):AAAAUCUUAAUGAUAGAUU
Mutant allele (5'->3'):AAAAUCUUAAUGAUACAUU
Position of siRNA on target gene: 413-431
Respective Gene/Protein Resources GenBank Accession:NM_000223.3
Cytogenic location:17q21.2
Chromosomal coordinates:17:39,017,429-39,023,461
UniProt ID:Q99456
HUGO ID:6414
Reference SNp(RefSNP): rs57218384
Disease/Mutation information Target Mutation: c.404G>C,p.Arg135Thr
Matation type/variant: single nucleotide variant/Missense variant
Mutation at gene level: NG_008077.1:g.5428G>C
Pathogenic status of mutation: Pathogenic
Disease:Meesmann epithelial corneal dystrophy (MECD)
Clinical Resources ClinVar ID:7921
KEGG disease ID:H00726
OMIM ID: 122100
COSMIC: KRT12
DECIPHER: KRT12
GeneTests: KRT12
ASP siRNA details Mutant allele (5'->3'): AAAAUCUUAAUGAUACAUU
ASP-siRNA (As strand 3'->5'):UUUUAGAAUUACUAUGUAA
Percentage efficacy of ASP-siRNA for mutant allele:10
Wild allele (5'->3'): AAAAUCUUAAUGAUAGAUU
ASP-siRNA (As strand 3'->5'):UUUUAGAAUUACUAUGUAA
Percentage efficacy of ASP-siRNA for wild allele:20
Relative difference:-10
Wild siRNA details Wild allele (5'->3'): AAAAUCUUAAUGAUAGAUU
Wild siRNA (As strand 3'->5'):UUUUAGAAUUACUAUCUAA
Percentage efficacy of wild siRNA for wild allele:NA
Wild allele (5'->3'): AAAAUCUUAAUGAUAGAUU
ASP-siRNA (As strand 3'->5'):UUUUAGAAUUACUAUGUAA
Percentage efficacy of Wild sirna for mutant allele:NA
Relative difference :NA
General information Mismatch incorporated in siRNA/Target:siRNA
Cell-line used: AD293
Experimental technique used: Dual luciferase reporter assay
Transfection method: Lipofectamine 2000
siRNA expression method: MWG Biotech AG
Post-transfection duration: 72 hours
Concentration used:0.25nM, 5nM
Reference:23233254
Delivery method:Transfection
Article title:Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy.
Authors:Allen EH, Atkinson SD, Liao H, Moore JE, Leslie Pedrioli DM, Smith FJ, McLean WH, Moore CB.
Journal Reference:Invest Ophthalmol Vis Sci. 2013 Jan 17;54(1):494-502. doi: 10.1167/iovs.12-10528.