This is the amplicon context sequence in accordance with the minimum information for the publication of real-time quantitative PCR experiements (MIQE) guidelines. For more details, please refer to the following publication, "Primer Sequence Disclosure: A Clarification of the MIQE Guidelines."
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. intronic
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]
Products used to generate validation data:
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.
ddPCR Amplitude Scatter Plot
Single well data of a representative target assay (FAM, Channel 1) duplexed to the AP3B1 reference assay (HEX, Channel 2).