PrimePCR™ ddPCR™ Copy Number Assay: ARL13B, 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 3q Assay (3q11.1); HEX; 70nt amplicon; exonic; HEX version of ARL13B (dHsaCP2506267)

 
Fluorophore:   HEX
List Price:    $254.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Copy Number Variation
Unique Assay ID:   dHsaCP2506677
Chromosome Location:   hg193:93772020-93772142question
Amplicon Length:   70
Reference Assays:   , , ,
Restriction Enzymes:   HaeIII

Gene Information

This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq Mar 2010]

Gene Symbol:   ARL13B
Gene Name:   ADP-ribosylation factor-like 13B
Aliases:   ARL2L1, DKFZp686E2075, DKFZp686L2472, DKFZp686M2074, DKFZp761H079, JBTS8, MGC120611, MGC120612
RefSeq:   NC_000003.11 NT_005612.16 NG_017076.1
Ensembl:   ENSG00000169379
Entrez:   200894
UniGene:   Hs.533086
Chromosome Mapping:   3q11.1

  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