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| ASPsiRNA information |
siRNA Id: | aspsirna0553
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|
siRNA Name: | siRNA5
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | ACGAGUCAUACUACCUUUU
|
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ASP-siRNA (As strand 3'->5'): | ACGAGUCAUACUGCCUUUU
|
|
Mismatch position in siRNA: | G7A |
| Gene Information |
Gene Name | Collagen type I alpha 2 (COL1A2) |
|
Target Sequence (5'->3'): | TGGGAACTTTGCTGCTCAGTATGATGGAAAAGGAGTTGGACTT
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Wild allele (5'->3'): | UGCUCAGUAUGAUGGAAAA
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Mutant allele (5'->3'): | UGCUCAGUAUGACGGAAAA
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Position of siRNA on target gene: | 705-723
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_000089.3 |
| Cytogenic location: | 7q21.3 |
| Chromosomal coordinates: | 7:94,023,872-94,060,543 |
| UniProt ID: | P08123 |
| HUGO ID: | 2198 |
|
Reference SNp(RefSNP): | rs1800222 |
| Disease/Mutation information |
Target Mutation: | c.246T>C,NP_000080.2:p.Asp82=
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Mutation at gene level: | NG_007405.1:g.12027T>C
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Pathogenic status of mutation: | Disease causing
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Disease: | Osteogenesis Imperfecta (OI) |
| Clinical Resources |
ClinVar ID: | NA |
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KEGG disease ID: | H00506 |
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OMIM ID: | 166210 |
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COSMIC: | COL1A2 |
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DECIPHER: | COL1A2 |
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GeneTests: | COL1A2 |
| ASP siRNA details |
Mutant allele (5'->3'): | UGCUCAGUAUGACGGAAAA
|
|
ASP-siRNA (As strand 3'->5'): | ACGAGUCAUACUGCCUUUU
|
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Percentage efficacy of ASP-siRNA for mutant allele: | 45
|
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Wild allele (5'->3'): | UGCUCAGUAUGAUGGAAAA
|
|
ASP-siRNA (As strand 3'->5'): | ACGAGUCAUACUGCCUUUU
|
|
Percentage efficacy of ASP-siRNA for wild allele: | NA
|
|
Relative difference: | NA
|
| Wild siRNA details |
Wild allele (5'->3'): | UGCUCAGUAUGAUGGAAAA
|
|
Wild siRNA (As strand 3'->5'): | ACGAGUCAUACUACCUUUU
|
|
Percentage efficacy of wild siRNA for wild allele: | NA
|
|
Wild allele (5'->3'): | UGCUCAGUAUGAUGGAAAA
|
|
ASP-siRNA (As strand 3'->5'): | ACGAGUCAUACUGCCUUUU
|
|
Percentage efficacy of Wild sirna for mutant allele: | NA
|
|
Relative difference : | NA
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA
|
| Cell-line used: | Primary human bone |
| Experimental technique used: | RT-PCR |
| Transfection method: | Magnet asisted transfection (MATRA) |
| siRNA expression method: | Ambion |
| Post-transfection duration: | 48 hours |
| Concentration used: | 0.6microg |
| Reference: | 19015742 |
| Delivery method: | Transfection |
| Article title: | Allele dependent silencing of COL1A2 using small interfering RNAs. |
| Authors: | Lindahl K, Rubin CJ, Kindmark A, Ljunggren O. |
| Journal Reference: | Int J Med Sci. 2008;5(6):361-5. Epub 2008 Nov 12. |
