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 or ATTO550/ROX
Quencher
Iowa Black
Primer Purification
Desalted
Probe Purification
HPLC