AA Mutation: p.S463C
Nucleotide Mutation: c.1388C>G
dPCR wet-lab validated
Nucleotide Mutation: c.1388C>G
dPCR wet-lab validated
Assay Name
dPCR Mutation Assay ESR1 9994994 Human
GeneGlobe Cat No (Assay ID)
DMH0001102
Species
Human (Homo sapiens)
Reaction size
200rxns and 1000rxns
Gene Symbol
ESR1
Gene aliases
NR3A1;Era;ER-alpha;ESR
Ensembl Gene ID
ENSG00000091831
Entrez Gene ID
2099
Genomic Mutation ID (COSV by COSMIC)
COSV105858147
Legacy Mutation ID (COSM by COSMIC)
COSM9994994
Amino Acid Change
p.S463C
Nucleotide Change
c.1388C>G
Wildtype Allele
C
Mutant Allele
G
Mutation Strand
+
Mutant description
Substitution - Missense
Positive Control Sequence
GTTACATCCCATGAACACTCTGGGTCTCCTAGACCTCATCCTCTTTGAGCTTCTCTCTCTCACTCTCTCTCTGCGCATTCAGGAGTGTACACATTTCTGTCCAGCACCCTGAAGTCTCTGGAAGAGAAGGACCATATCCACCGAGTCCTGGACAAGATC
Amplicon length
139
Recommended Restriction Enzyme
PvuII,EcoRI,XbaI,HaeIII
Wet-lab validated
dPCR wet-lab validated
Probe Fluorophore
FAM/HEX or ATTO550/ROX
Quencher
Iowa Black
Primer Purification
Desalted
Probe Purification
HPLC