PrimePCR™ ddPCR™ Copy Number Assay: PICALM, 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:   HEX; 70nt amplicon; exonic; HEX version of PICALM (dHsaCP2500444)

 
Fluorophore:   HEX
List Price:    $254.00
Your Price:   Log In
 

Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Copy Number Variation
Unique Assay ID:   dHsaCP2506619
Chromosome Location:   hg1911:85780751-85780873question
Amplicon Length:   70
Reference Assays:   , , ,
Restriction Enzymes:   HaeIII

Gene Information

This gene encodes a clathrin assembly protein which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq May 2011]

Gene Symbol:   PICALM
Gene Name:   phosphatidylinositol binding clathrin assembly protein
Aliases:   CALM, CLTH, LAP
RefSeq:   NC_000011.9 NT_167190.1
Ensembl:   ENSG00000073921
Entrez:   8301
UniGene:   Hs.163893
Chromosome Mapping:   11q14

  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