Assay Name
dPCR Mutation Assay NOTCH1 13048 Human
GeneGlobe Cat No (Assay ID)
DMH0000027
Species
Human (Homo sapiens)
Gene Symbol
NOTCH1
Gene aliases
TAN1
Ensembl Gene ID
ENSG00000148400
Entrez Gene ID
4851
Genomic Mutation ID (COSV by COSMIC)
COSV53024869
Legacy Mutation ID (COSM by COSMIC)
COSM13048
Amino Acid Change
p.L1678P
Nucleotide Change
c.5033T>C
Wildtype Allele
A
Mutant Allele
G
Mutation Strand
-
Mutant description
Substitution - Missense
Positive Control Sequence
GCGGCCACGTCGGTGGCACTCTGGAAGCACTGCGAGGAGGCCTGCACACACTGCCGGTTGTCAATCTCCAGGTAGACGATGGAGCTGGGCGGACAATCAGAGAGGGGC
Amplicon length
88
Recommended Restriction Enzyme
CviQI,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