AA Mutation: p.E380Q
Nucleotide Mutation: c.1138G>C
dPCR wet-lab validated
Nucleotide Mutation: c.1138G>C
dPCR wet-lab validated
Assay Name​
dPCR Mutation Assay ESR1 3829320 Human
GeneGlobe Cat No (Assay ID)​
DMH0001100
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)​
COSV52782264
Legacy Mutation ID (COSM by COSMIC)​
COSM3829320
Amino Acid Change​
p.E380Q
Nucleotide Change​
c.1138G>C
Wildtype Allele​
G
Mutant Allele​
C
Mutation Strand​
+
Mutant description​
Substitution - Missense
Positive Control Sequence​
TAATGAGTCTTTTTCATTTGAGTCAGCAGGGTTTTTCTTGCTTGTTTTCAGGCTTTGTGGATTTGACCCTCCATGATCAGGTCCACCTTCTAGAATGTGCCTGGCTAGAGATCCTGATGATTGGTCTCGTCTGGCGCTCCATGGAGCACCCAGGGAAGCTACTGTTTGCTCCTAACTTGCTCTTGGACAGGTAAGTGAC
Amplicon length​
179
Recommended Restriction Enzyme​
PvuII,EcoRI,CviQI,HaeIII
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