GeneGlobe ID: DMH0000220 | Cat. No.: | dPCR LNA Mutation Assays

dPCR Mutation Assay BTK 6053938 Human

AA Mutation: p.C515S
Nucleotide Mutation: c.1544G>C
dPCR wet-lab validated

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Product Specification

Assay Name​
dPCR Mutation Assay BTK 6053938 Human
GeneGlobe Cat No (Assay ID)​
DMH0000220
Species​
Human (Homo sapiens)
Gene Symbol​
BTK
Gene aliases​
ATK;XLA;PSCTK1;AGMX1;IMD1
Ensembl Gene ID​
ENSG00000010671
Entrez Gene ID​
695
Genomic Mutation ID (COSV by COSMIC)​
COSV58117136
Legacy Mutation ID (COSM by COSMIC)​
COSM6053938
Amino Acid Change​
p.C515S
Nucleotide Change​
c.1544G>C
Wildtype Allele​
C
Mutant Allele​
G
Mutation Strand​
-
Mutant description​
Substitution - Missense
Positive Control Sequence​
TGGAAGCGGTGGCGCATCTCCCTCAGGTAGTTCAGGAGGCAGCCATTGGCCATGTACTCAGTGATGATGAAGATGGGGCGCTGCTTGGTGCAGACGCCATACAACTGCACCAGCTTCTCATGGGAAAGATTCCTACAGGA
Amplicon length​
120
Recommended Restriction Enzyme​
EcoRI,XbaI,PvuII
Wet-lab validated​
dPCR wet-lab validated
Probe Fluorophore​
FAM/HEX or ATTO550/ROX
Quencher​
Iowa Black
Primer Purification​
Desalted
Probe Purification​
HPLC

Product Resources

Validation Data
File Size: 83.14 KBLanguage: English

Resources

Instrument User Manuals (1)
Quick-Start Protocols (1)
Safety Data Sheets (1)
Application Notes (1)
Digital PCR (dPCR) is a powerful technique that detects and quantifies ultra-rare mutations in a high background of wild-type cfDNA down to 0.1% variant allele frequency. Here, we describe end-to-end manual and automated workflows that enable accurate detection and absolute quantification of ultra-rare PIK3CA variants in cfDNA using the QIAcuity Digital PCR System.
Certificates of Analysis (1)
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