PrimePCR™ ddPCR™ Copy Number Assay: AP3B1, Human

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PrimePCR Primer Assays for Real-Time PCR oligo primer pair tube for SYBR Green gene expression

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

Info:   This assay targets an ultraconserved element in the AP3B1 gene.

 
Fluorophore:   HEX
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Assay Information

Technology:   ddPCR
Assay Type   Probe
Application:   Copy Number Variation
Unique Assay ID:   dHsaCP1000001
Chromosome Location:   5: 77358603-77358725question
Amplicon Length:   85
Restriction Enzymes   HaeIII

Gene Information

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes platelet dense granules and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. [provided by RefSeq Jul 2008]

Gene Symbol:   AP3B1
Gene Name:   adaptor-related protein complex 3, beta 1 subunit
Aliases:   ADTB3, ADTB3A, HPS, HPS2, PE
RefSeq:   NC_000005.9 NG_007268.1 NT_006713.15
Ensembl:   ENSG00000132842
Entrez:   8546
UniGene:   Hs.532091
Chromosome Mapping   5q14.1

  Download Validation Data (.pdf)


Products used to generate validation data:

ddPCR Instrument QX100
ddPCR Supermix ddPCR Supermix for Probes (no dUTP)
Experimental Sample NA18916,AG09394

Copy Number
Copy number analysis of AP3B1 in two samples. Technical replicates are shown. This demonstrates that the reference assay is present at two copies in the genome.

Copy Number Text

ddPCR Amplitude Scatter Plot
Single well data of a representative target assay (FAM, Channel 1) duplexed to the AP3B1 reference assay (HEX, Channel 2).

ddPCR Amplitude Scatter Plot Text

Number Description Download
10033487 PrimePCR ddPCR Mutation Detection Assays Product Insert, Rev B Click to download
10033173 PrimePCR ddPCR Copy Number Variation (CNV) Assays Product Insert, Rev B Click to download
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