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