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Daily Archives: December 7, 2021

Lei Chen, Ph.D., co-founder of Rarity Bioscience AB speaks about SafeLock assays on Uppsala University News

UncategorizedBy catarina@14meter.seDecember 7, 2021Leave a comment

Lei Chen, Ph.D., co-founder of Rarity Bioscience AB speaks about SafeLock assays on Uppsala University News. https://www.uu.se/nyheter/artikel/?id=17872&typ=artikel&lang=sv (Text in Swedish)

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PanelIDH1/2 Panel
Assay NameIDH2 p.R172K
Gene Nameisocitrate dehydrogenase 2 (NADP+), mitochondrial
Gene SymbolIDH2
COSMIC IDCOSM33733
Amino Acid Changep.R172K
Nucleotide Mutationc.515G>A
dbSNPrs121913503
Targeting sequenceACCATTGGCA[G/A]GCACGCCCAT
Sample inputgenomic DNA, ctDNA (plasma)
Input range5ng up to 1320ng
Regulatory StatusResearch use only

PanelIDH1/2 Panel
Assay NameIDH2 p.R140Q
Gene Nameisocitrate dehydrogenase 2 (NADP+), mitochondrial
Gene SymbolIDH2
COSMIC IDCOSM41590
Amino Acid Changep.R140Q
Nucleotide Mutationc.419G>A
dbSNPrs11540478
Targeting sequenceGGAACTATCC[G/A]GAACATCCTGGGG
Sample inputgenomic DNA, ctDNA (plasma)
Input range5ng up to 1320ng
Regulatory StatusResearch use only

PanelIDH1/2 Panel
Assay NameIDH1 p.R132H
Gene Nameisocitrate dehydrogenase 1 (NADP+), soluble
Gene SymbolIDH1
COSMIC IDCOSM28746
Amino Acid Changep.R132H
Nucleotide Mutationc.395G>A
dbSNPrs121913500
Targeting sequenceATCATAGGTC[G/A]TCATGCTTAT
Sample inputgenomic DNA, ctDNA (plasma)
Input range5ng up to 1320ng
Regulatory StatusResearch use only

PanelSRSF2
Assay NameSRSF2 p.P95R
Gene NameSerine and arginine rich splicing factor 2
Gene SymbolSRSF2
COSMIC IDCOSM144995
Amino Acid Changep.P95R
Nucleotide Mutationc.284C>G
dbSNPrs751713049
Targeting sequenceTACGGCCGCC[C/G]CCCGGACTCA
Sample inputGenomic DNA, ctDNA (plasma)
Input range5ng up to 1320ng
Regulatory StatusResearch use only

PanelSRSF2
Assay NameSRSF2 p.P95L
Gene Nameserine and arginine rich splicing factor 2
Gene SymbolSRSF2
COSMIC IDCOSM144994
Amino Acid Changep.P95L
Nucleotide Mutationc.284C>T
dbSNPrs751713049
Targeting sequenceTACGGCCGCC[C/T]CCCGGACTCA
Sample inputgenomic DNA, ctDNA (plasma)
Input range5ng up to 1320ng
Regulatory StatusResearch use only

PanelSRSF2
Assay NameSRSF2 p.P95H
Gene Nameserine and arginine rich splicing factor 2
Gene SymbolSRSF2
COSMIC IDCOSM211504
Amino Acid Changep.P95H
Nucleotide Mutationc.284C>A
dbSNPrs751713049
Targeting sequenceTACGGCCGCC[C/A]CCCGGACTCA
Sample inputgenomic DNA, ctDNA (plasma)
Input range5ng up to 1320ng
Regulatory StatusResearch use only

Assay NameASXL1 p.G646Wfs*12
Gene NameASXL transcriptional regulator 1
Gene SymbolASXL1
COSMIC IDCOSM34210
Amino Acid Changep.G646Wfs*12
Nucleotide Mutationc.1934dup
dbSNPrs750318549
Targeting sequenceATCGGAGGGG[-/G]GGGGTGGCCC
Sample inputgenomic DNA, ctDNA (plasma)
Input range5ng up to 1320g
Regulatory StatusResearch use only

PanelIDH1/2 Panel
Assay NameIDH1 p.R132C
Gene Nameisocitrate dehydrogenase 1 (NADP+), soluble
Gene SymbolIDH1
COSMIC IDCOSM28747
Amino Acid Changep.R132C
Nucleotide Mutationc.394C>T
dbSNPRS121913499
Targeting sequenceCATCATAGGT[C/T]GTCATGCTTA
Sample inputgenomic DNA, ctDNA (plasma)
Input range5ng up to 1320ng
Regulatory StatusResearch use only