AA Mutation: p.C515R
Nucleotide Mutation: c.1543T>C
dPCR wet-lab validated
Assay Name
dPCR Mutation Assay BTK 6053936 Human
GeneGlobe Cat No (Assay ID)
DMH0000222
Species
Human (Homo sapiens)
Gene aliases
ATK;XLA;PSCTK1;AGMX1;IMD1
Ensembl Gene ID
ENSG00000010671
Genomic Mutation ID (COSV by COSMIC)
COSV58117643
Legacy Mutation ID (COSM by COSMIC)
COSM6053936
Amino Acid Change
p.C515R
Nucleotide Change
c.1543T>C
Mutant description
Substitution - Missense
Control Sequence (wt)
CTGGAAGCGGTGGCGCATCTCCCTCAGGTAGTTCAGGAGGCAGCCATTGGCCATGTACTCAGTGATGATGAAGATGGGGCGCTGCTTGGTGCAGACGCCATACAACTGCACC
Recommended Restriction Enzyme
AluI,EcoRI,XbaI,PvuII
Wet-lab verified
dPCR wet-lab verified
Probe Fluorophore
FAM/HEX, ATTO550/ROX or Cy5/ATTO700
Primer Purification
Desalted
Reaction size
200rxns and 1000rxns