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| ASPsiRNA information |
siRNA Id: | aspsirna0804
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|
siRNA Name: | SHP1
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | CCUAAGGUACAAGUACUCA
|
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ASP-siRNA (As strand 3'->5'): | GCUAAGGUACAAGUACUCA
|
|
Mismatch position in siRNA: | G19C |
| Gene Information |
Gene Name | Cu,Zn superoxide dismutase (SOD1) |
|
Target Sequence (5'->3'): | GGATTCCATGTTCATGAGTTTGGAGATAA
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Wild allele (5'->3'): | GGAUUCCAUGUUCAUGAGU
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Mutant allele (5'->3'): | CGAUUCCAUGUUCAUGAGU
|
|
Position of siRNA on target gene: | 281-299
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_000454.4 |
| Cytogenic location: | 21q22.1 |
| Chromosomal coordinates: | 21:33,031,934-33,041,243 |
| UniProt ID: | P00441 |
| HUGO ID: | 11179 |
|
Reference SNp(RefSNP): | rs12191243 |
| Disease/Mutation information |
Target Mutation: | c.281G>C,p.Gly94Ala
|
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Matation type/variant: | Single nucleotide variant/Missense variant
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Mutation at gene level: | NG_008689.1:g.12678G>C
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Pathogenic status of mutation: | Pathogenic
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Disease: | Amyotrophic Lateral Sclerosis (ALS) |
| Clinical Resources |
ClinVar ID: | 14760 |
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KEGG disease ID: | H00058 |
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OMIM ID: | 105400 |
|
COSMIC: | SOD1 |
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DECIPHER: | SOD1 |
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GeneTests: | SOD1 |
| ASP siRNA details |
Mutant allele (5'->3'): | CGAUUCCAUGUUCAUGAGU
|
|
ASP-siRNA (As strand 3'->5'): | GCUAAGGUACAAGUACUCA
|
|
Percentage efficacy of ASP-siRNA for mutant allele: | 80
|
|
Wild allele (5'->3'): | GGAUUCCAUGUUCAUGAGU
|
|
ASP-siRNA (As strand 3'->5'): | GCUAAGGUACAAGUACUCA
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 74
|
|
Relative difference: | 6
|
| Wild siRNA details |
Wild allele (5'->3'): | GGAUUCCAUGUUCAUGAGU
|
|
Wild siRNA (As strand 3'->5'): | CCUAAGGUACAAGUACUCA
|
|
Percentage efficacy of wild siRNA for wild allele: | NA
|
|
Wild allele (5'->3'): | GGAUUCCAUGUUCAUGAGU
|
|
ASP-siRNA (As strand 3'->5'): | GCUAAGGUACAAGUACUCA
|
|
Percentage efficacy of Wild sirna for mutant allele: | NA
|
|
Relative difference : | NA
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | Transgenic mouse model |
| Experimental technique used: | rotarod test |
| Transfection method: | RNAiMAX |
| siRNA expression method: | Dharmacon |
| Post-transfection duration: | 168 hours |
| Concentration used: | 300nM |
| Reference: | 15768029 |
| Delivery method: | Transfection |
'| Article title: | Five siRNAs targeting three SNPs may provide therapy for three-quarters of Huntington's disease patients. |
'| Authors: | Pfister EL, Kennington L, Straubhaar J, Wagh S, Liu W, DiFiglia M, Landwehrmeyer B, Vonsattel JP, Zamore PD, Aronin N. |
'| Journal Reference: | Curr Biol. 2009 May 12;19(9):774-8. doi: 10.1016/j.cub.2009.03.030. Epub 2009 Apr 9. |
'
