AA Mutation: p.L1678P
Nucleotide Mutation: c.5033T>C
dPCR wet-lab validated
Nucleotide Mutation: c.5033T>C
dPCR wet-lab validated
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, ATTO550/ROX or Cy5/ATTO700
Quencher​
Iowa Black
Primer Purification​
Desalted
Probe Purification​
HPLC
Reaction size​
200rxns and 1000rxns