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| ASPsiRNA information |
siRNA Id: | aspsirna1747
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|
siRNA Name: | BetaA(G:G)-siRNA
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | ACUGAGGACUCCUCUUCAG
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ASP-siRNA (As strand 3'->5'): | ACUGAGGACUCCUCUUCAG
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|
Mismatch position in siRNA: | A1C |
| Gene Information |
Gene Name | Hb beta-chain (HBB) |
|
Target Sequence (5'->3'): | ATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCC
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Wild allele (5'->3'): | UGACUCCUGAGGAGAAGUC
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Mutant allele (5'->3'): | UGACUCCUGAGGAGAAGUG
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Position of siRNA on target gene: | 61-79
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_000518.4 |
| Cytogenic location: | 11p15.4 |
| Chromosomal coordinates: | 11:5,246,695-5,248,300 |
| UniProt ID: | P68871 |
| HUGO ID: | 4827 |
|
Reference SNp(RefSNP): | rs33987957 |
| Disease/Mutation information |
Target Mutation: | c.365A>T (p.Glu122Val)
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Matation type/variant: | single nucleotide variant/Missense variant
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Mutation at gene level: | NG_000007.3:g.71939A>T
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Pathogenic status of mutation: | Pathogenic
|
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Disease: | Sickle cell anemia |
| Clinical Resources |
ClinVar ID: | 15110 |
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KEGG disease ID: | H00229 |
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OMIM ID: | 603903 |
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COSMIC: | HBB |
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DECIPHER: | HBB |
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GeneTests: | HBB |
| ASP siRNA details |
Mutant allele (5'->3'): | UGACUCCUGAGGAGAAGUG
|
|
ASP-siRNA (As strand 3'->5'): | ACUGAGGACUCCUCUUCAG
|
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Percentage efficacy of ASP-siRNA for mutant allele: | NA
|
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Wild allele (5'->3'): | UGACUCCUGAGGAGAAGUC
|
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ASP-siRNA (As strand 3'->5'): | ACUGAGGACUCCUCUUCAG
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 12
|
|
Relative difference: | NA
|
| Wild siRNA details |
Wild allele (5'->3'): | UGACUCCUGAGGAGAAGUC
|
|
Wild siRNA (As strand 3'->5'): | ACUGAGGACUCCUCUUCAG
|
|
Percentage efficacy of wild siRNA for wild allele: | NA
|
|
Wild allele (5'->3'): | UGACUCCUGAGGAGAAGUC
|
|
ASP-siRNA (As strand 3'->5'): | ACUGAGGACUCCUCUUCAG
|
|
Percentage efficacy of Wild sirna for mutant allele: | NA
|
|
Relative difference : | NA
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | HeLa |
| Experimental technique used: | Dual luciferase reporter assay |
| Transfection method: | Lipofectamine 2000 |
| siRNA expression method: | Dharmacon |
| Post-transfection duration: | 48 hours |
| Concentration used: | 200nM |
| Reference: | 16585504 |
| Delivery method: | Transfection |
'| Article title: | Determinants of specific RNA interference-mediated silencing of human beta-globin alleles differing by a single nucleotide polymorphism. |
'| Authors: | Dykxhoorn DM, Schlehuber LD, London IM, Lieberman J. |
'| Journal Reference: | Proc Natl Acad Sci U S A. 2006 Apr 11;103(15):5953-8. Epub 2006 Apr 3. |
'
