AA Mutation: p.P2514Rfs*4
Nucleotide Mutation: c.7541_7542del
dPCR wet-lab validated
Nucleotide Mutation: c.7541_7542del
dPCR wet-lab validated
Assay Name​
dPCR Mutation Assay NOTCH1 12774 Human
GeneGlobe Cat No (Assay ID)​
DMH0000026
Species​
Human (Homo sapiens)
Gene Symbol​
NOTCH1
Gene aliases​
TAN1
Ensembl Gene ID​
ENSG00000148400
Entrez Gene ID​
4851
Genomic Mutation ID (COSV by COSMIC)​
COSV53024776
Legacy Mutation ID (COSM by COSMIC)​
COSM12774
Amino Acid Change​
p.P2514Rfs*4
Nucleotide Change​
c.7541_7542del
Wildtype Allele​
CAG
Mutant Allele​
C
Mutation Strand​
-
Mutant description​
Substitution - Missense
Positive Control Sequence​
GGAATGCGGGGACGAGCTGGACCACTGGTCAGGGGACTCAGGGGACGGGGTGAGGAAGGGGTGCTCAGGCACCTGTAG
Amplicon length​
58
Recommended Restriction Enzyme​
CviQI,HaeIII,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