PrimePCR™ ddPCR™ Copy Number Assay: ANK1, Human

PrimePCR

ddPCR probe assay designed for copy number variation analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

Info:   Centromeric 8p Assay (8p11.21); FAM; 65nt amplicon; crosses exon-intron junction; FAM version of ANK1 (dHsaCP2506686)

 
Fluorophore:   FAM
List Price:    $254.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Copy Number Variation
Unique Assay ID:   dHsaCP2506264
Chromosome Location:   hg198:41591528-41591650question
Amplicon Length:   65
Reference Assays:   , , ,
Restriction Enzymes:   HaeIII

Gene Information

Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility activation proliferation contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1 the prototype of this family was first discovered in the erythrocytes but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq Dec 2008]

Gene Symbol:   ANK1
Gene Name:   ankyrin 1, erythrocytic
Aliases:   ANK, SPH1, SPH2
RefSeq:   NC_000008.10 NT_167187.1 NG_012820.1
Ensembl:   ENSG00000029534
Entrez:   286
UniGene:   Hs.654438
Chromosome Mapping:   8p11.1

  Download Validation Data (.pdf)


Products used to generate validation data:

ddPCR Instrument QX200
ddPCR Supermix ddPCR Supermix for Probes (no dUTP)
Experimental Sample NA18916,AG09394

Copy Number
Copy number analysis of two samples, using the EIF2C1 reference assay. Technical replicates are shown.

Copy Number Text

ddPCR Amplitude Scatter Plot
Single-well data of target assay (FAM, Channel 1) duplexed to EIF2C1 reference assay (HEX, Channel 2).

ddPCR Amplitude Scatter Plot Text

Number Description Download