Assay Name
dPCR Mutation Assay ESR1 6843697 Human
GeneGlobe Cat No (Assay ID)
DMH0001106
Species
Human (Homo sapiens)
Gene Symbol
ESR1
Gene aliases
NR3A1;Era;ER-alpha;ESR
Ensembl Gene ID
ENSG00000091831
Entrez Gene ID
2099
Genomic Mutation ID (COSV by COSMIC)
COSV52795259
Legacy Mutation ID (COSM by COSMIC)
COSM6843697
Amino Acid Change
p.L536H
Nucleotide Change
c.1607T>A
Wildtype Allele
T
Mutant Allele
A
Mutation Strand
+
Mutant description
Substitution - Missense
Positive Control Sequence
GGAGCATCTGTACAGCATGAAGTGCAAGAACGTGGTGCCCCTCTATGACCTGCTGCTGGAGATGCTGGACGCCCACCGCCTACATGCGCCCACTAGCCGTGGAGGGGCATCCGTGGAGGAGACGGACCAAAGCCACTTGGCCACTGCGGGCTCTACTTCATCGCATTCCTTGCAAAAGTATT
Amplicon length
162
Recommended Restriction Enzyme
PvuII,EcoRI,XbaI,AluI
Wet-lab validated
dPCR wet-lab validated
Probe Fluorophore
FAM/HEX or ATTO550/ROX
Quencher
Iowa Black
Primer Purification
Desalted
Probe Purification
HPLC