Assay Nameβ
dPCR Mutation Assay NOTCH1 13053 Human
GeneGlobe Cat No (Assay ID)β
DMH0000146
Speciesβ
Human (Homo sapiens)
Gene Symbolβ
NOTCH1
Gene aliasesβ
TAN1
Ensembl Gene IDβ
ENSG00000148400
Entrez Gene IDβ
4851
Genomic Mutation ID (COSV by COSMIC)β
COSV53027279
Legacy Mutation ID (COSM by COSMIC)β
COSM13053
Amino Acid Changeβ
p.R1598P
Nucleotide Changeβ
c.4793G>C
Wildtype Alleleβ
C
Mutant Alleleβ
G
Mutation Strandβ
-
Mutant descriptionβ
Substitution - Missense
Positive Control Sequenceβ
GGCCGTGTGCGTCACGCTTGAAGACCACGTTGGTGTGCAGCACGCGGCTGAGCTCCCGCAGGAAGTGGAAGGAGCTGTTGCGCAGC
Amplicon lengthβ
66
Recommended Restriction Enzymeβ
CviQI,HaeIII,EcoRI,XbaI,PvuII
Wet-lab validatedβ
dPCR wet-lab validated
Probe Fluorophoreβ
FAM/HEX or ATTO550/ROX
Quencherβ
Iowa Black
Primer Purificationβ
Desalted
Probe Purificationβ
HPLC