AA Mutation: p.C515S
Nucleotide Mutation: c.1544G>C
dPCR wet-lab validated
Nucleotide Mutation: c.1544G>C
dPCR wet-lab validated
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, ATTO550/ROX or Cy5/ATTO700
Quencher​
Iowa Black
Primer Purification​
Desalted
Probe Purification​
HPLC
Reaction size​
200rxns and 1000rxns