Assay Name
dPCR Mutation Assay BTK 6053936 Human
GeneGlobe Cat No (Assay ID)
DMH0000222
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)
COSV58117643
Legacy Mutation ID (COSM by COSMIC)
COSM6053936
Amino Acid Change
p.C515R
Nucleotide Change
c.1543T>C
Wildtype Allele
A
Mutant Allele
G
Mutation Strand
-
Mutant description
Substitution - Missense
Positive Control Sequence
CTGGAAGCGGTGGCGCATCTCCCTCAGGTAGTTCAGGAGGCAGCCATTGGCCATGTACTCAGTGATGATGAAGATGGGGCGCTGCTTGGTGCAGACGCCATACAACTGCACC
Amplicon length
92
Recommended Restriction Enzyme
AluI,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