AssayDetailPortlet

CYP21A2 c.923dupT Novallele Genotyping Assay

Gene symbol

CYP21A2 

Nucleotide change

c.923dupT 

Protein change

p.Leu308Phefs

NCBI 1000 Genomes Browser

rs267606756

Assay catalog number

40374 

Control set catalog number(s)

40715

CYP21A2 c.923dupT Novallele Genotyping Assay identifies a duplication within the CYP21A2 gene. Mutations of the CYP21A2 gene are linked to 21-hydroxylase deficiency. 21-hydroxylase deficiency is an inherited disease that affects the adrenal glands and is characterized by arrhythmias, low blood glucose, and low blood sodium levels.

Variant information

The CYP21A2 c.923dupT Novallele Genotyping Assay is used to amplify and identify specific genetic polymorphisms or mutations. This assay provides scientists with a simple way to quickly genotype this locus from isolated human genomic DNA. The assay contains functionally-verified oligonucleotide primers and unlabeled probes necessary for PCR and subsequent allele identification by DNA melting. For Research Use Only. Not for use in diagnostic procedures.

Catalog number

 

40374 

 

Gene symbol

 

CYP21A2 

Alias

 

Cytochrome P450 Family 21 Subfamily A Member 2, Cytochrome P450, Subfamily XXIA (Steroid 21-Hydroxylase, Congenital Adrenal Hyperplasia), Polypeptide 2, Cytochrome P450, Family 21, Subfamily A, Polypeptide 2, Steroid 21-Monooxygenase, Cytochrome P450-C21B, Cytochrome P450 XXI, 21-OHase, CYP21B, CYP21, Steroid 21 Hydroxylase, Cytochrome P-450c21 

Nucleotide change

 

c.923dupT 

Protein change

 

p.Leu308Phefs

Allele information

 

 

Application area

 

Pharmacogenetics

Human development

Inherited disease

Variant type

 

Indel

Cytogenetic location

 

6p21.3

SNP type

 

Duplication 

 

NCBI 1000 Genomes Browser

 

rs267606756

dbSNP ID

 

ClinVar

 

Online Mendelian Inheritance in Man (OMIM)

 

 

PharmGKB

 

Drug interaction

 

 

Product specifications

The CYP21A2 c.923dupT Novallele Genotyping Assay is compatible with any thermocycler capable of high-resolution melting (HRM). Each assay comprises a single tube containing the primers and probes optimized to detect the target. Each tube contains 600 µl, which is enough for 166 reactions. The assay is stable for 6 months at 2–8ºC.

Genotyping analysis

The CYP21A2 c.923dupT Novallele Genotyping Assay identifies a duplication of c.923dupT. The graph displays the homozygous wild type in black, the heterozygous variant in blue, and the homozygous variant in red. The data were generated using the companion Novallele Control Set.

Resources

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