AA Mutation: p.P48L
Nucleotide Mutation: c.143C>T
dPCR wet-lab validated
Nucleotide Mutation: c.143C>T
dPCR wet-lab validated
Assay Name​
dPCR Mutation Assay CDKN2A 12743 Human
GeneGlobe Cat No (Assay ID)​
DMH0000566
Species​
Human (Homo sapiens)
Gene Symbol​
CDKN2A
Gene aliases​
CDK4I;p16;INK4a;MTS1;CMM2;ARF;p19;p14;INK4;p16INK4a;p19Arf;p14ARF;CDKN2;MLM
Ensembl Gene ID​
ENSG00000147889
Entrez Gene ID​
1029
Genomic Mutation ID (COSV by COSMIC)​
COSV58683273
Legacy Mutation ID (COSM by COSMIC)​
COSM12743
Amino Acid Change​
p.P48L
Nucleotide Change​
c.143C>T
Wildtype Allele​
G
Mutant Allele​
A
Mutation Strand​
-
Mutant description​
Substitution - Missense
Positive Control Sequence​
ATTCCCCTGCAAACTTCGTCCTCCAGAGTCGCCCGCCATCCCCTGCTCCCGCTGCAGACCCTCTACCCACCTGGATCGGCCTCCGACCGTAACTATTCGGTGCGTTGGGCAGCGCCC
Amplicon length​
97
Recommended Restriction Enzyme​
CviQI,AluI,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