aspsirna3213 details

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ASPsiRNA information siRNA Id:aspsirna3213
siRNA Name: siN159D-14
Mismatch information Wild siRNA (As strand 3'->5'):GACUUGUUGUUCAAGCGGAGGA
ASP-siRNA (As strand 3'->5'):GACUUG---UUCAAGCGGAGGA
Mismatch position in siRNA: del_7A,8A,9C,
Gene Information Gene Name Keratin 75 (KRT75)
Target Sequence (5'->3'):ACGGGAGCAGATCAAGACTCTGAACAACAAGTTCGCCTCCTTC
Wild allele (5'->3'):CUGAACAACAAGUUCGCCUCCU
Mutant allele (5'->3'):CUGAAC---AAGUUCGCCUCCU
Position of siRNA on target gene: NA
Respective Gene/Protein Resources GenBank Accession:NM_004693.2
Cytogenic location:12q13.13
Chromosomal coordinates:12:52,424,069-52,434,325 
UniProt ID:O95678
HUGO ID:24431
Reference SNp(RefSNP): NA
Disease/Mutation information Target Mutation: c.545_547del,p.N159del
Matation type/variant: Deletion
Mutation at gene level: NA
Pathogenic status of mutation: NA
Disease:Hair shaft blebbing
Clinical Resources ClinVar ID:NA
KEGG disease ID:NA
OMIM ID: NA
COSMIC: KRT75
DECIPHER: KRT75
GeneTests: KRT75
ASP siRNA details Mutant allele (5'->3'): CUGAAC---AAGUUCGCCUCCU
ASP-siRNA (As strand 3'->5'):GACUUG---UUCAAGCGGAGGA
Percentage efficacy of ASP-siRNA for mutant allele:28
Wild allele (5'->3'): CUGAACAACAAGUUCGCCUCCU
ASP-siRNA (As strand 3'->5'):GACUUG---UUCAAGCGGAGGA
Percentage efficacy of ASP-siRNA for wild allele:0
Relative difference:28
Wild siRNA details Wild allele (5'->3'): CUGAACAACAAGUUCGCCUCCU
Wild siRNA (As strand 3'->5'):GACUUGUUGUUCAAGCGGAGGA
Percentage efficacy of wild siRNA for wild allele:50
Wild allele (5'->3'): CUGAACAACAAGUUCGCCUCCU
ASP-siRNA (As strand 3'->5'):GACUUG---UUCAAGCGGAGGA
Percentage efficacy of Wild sirna for mutant allele:42
Relative difference :8
General information Mismatch incorporated in siRNA/Target:siRNA
Cell-line used: HEK293T
Experimental technique used: qRT-PCR
Transfection method: Lipofectamine 2000
siRNA expression method: Thermo Fisher
Post-transfection duration: 48 hours
Concentration used:15 nM
Reference:26763422
Delivery method:shRNA-encoding lentiviral vectors
Article title:Correction of Hair Shaft Defects through Allele-Specific Silencing of Mutant Krt75
Authors:Liu Y, Snedecor ER, Zhang X, Xu Y, Huang L, Jones EC, Zhang L, Clark RA, Roop DR, Qin C, Chen J
Journal Reference:J Invest Dermatol. 2016 Jan;136(1):45-51. doi: 10.1038/JID.2015.375