AA Mutation: p.L536H
Nucleotide Mutation: c.1607T>A
dPCR wet-lab validated
Nucleotide Mutation: c.1607T>A
dPCR wet-lab validated
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, ATTO550/ROX or Cy5/ATTO700
Quencher​
Iowa Black
Primer Purification​
Desalted
Probe Purification​
HPLC
Reaction size​
200rxns and 1000rxns