AssayDetailPortlet

CFTR c.2052delA Novallele Genotyping Assay

Gene symbol

CFTR 

Nucleotide change

c.2052delA 

Protein change

p.Lys684Asnfs

NCBI 1000 Genomes Browser

rs121908746

Assay catalog number

40110 

Control set catalog number(s)

40473

The CFTR c.2052delA Novallele Genotyping Assay identifies a deletion within the cystic fibrosis transmembrane conductance regulator gene, CFTR. There are hundreds of CFTR mutations currently undergoing research with a connection to cystic fibrosis. Cystic fibrosis is an inherited disease characterized by lung infections and chronic digestive system problems and may cause cystic fibrosis-related diabetes (CFRD).

Variant information

The CFTR c.2052delA 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

 

40110 

 

Gene symbol

 

CFTR 

Alias

 

Cystic Fibrosis Transmembrane Conductance Regulator (ATP-Binding Cassette Sub-Family C, Member 7) 2 3, Channel Conductance-Controlling ATPase 3 4, CAMP-Dependent Chloride Channel 3 4, EC 3.6.3.49 4 63, ABCC7 3 4, Cystic Fibrosis Transmembrane Conductance Regulator, ATP-Binding Cassette (Sub-Family C, Member 7) 2; ATP-Binding Cassette Sub-Family C Member 7 4; ATP-Binding Cassette Sub-Family C 2, DJ760C5.1 3  

Nucleotide change

 

c.2052delA 

Protein change

 

p.Lys684Asnfs

Allele information

 

2184delA 

Application area

 

Inherited disease

Pharmacogenetics

Variant type

 

Indel

Cytogenetic location

 

7q31.2

SNP type

 

Deletion 

 

NCBI 1000 Genomes Browser

 

rs121908746

dbSNP ID

 

ClinVar

 

Online Mendelian Inheritance in Man (OMIM)

 

 

PharmGKB

 

Drug interaction

 

 

Product specifications

The CFTR c.2052delA 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 SNP. Each tube contains 600 µl, which is enough for 166 reactions. The assay is stable for 6 months at 2–8ºC.

Genotyping analysis

The CFTR c.2052delA Novallele Genotyping Assay identifies a deletion of c.2052delA. The graphs display 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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