PrimePCR™ ddPCR™ Copy Number Assay: GNAS, 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:   FAM: 63nt amplicon; exonic

 
Fluorophore:   FAM
List Price:    $254.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Copy Number Variation
Unique Assay ID:   dHsaCP1000398
Chromosome Location:   20:57428418-57428540question
Amplicon Length:   63
Reference Assays:   , , ,
Restriction Enzymes:   HaeIII

Gene Information

This locus has a highly complex imprinted expression pattern. It gives rise to maternally paternally and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contains a differentially methylated region (DMR) at their 5' exons and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus and the antisense transcript are paternally expressed noncoding RNAs and may regulate imprinting in this region. In addition one of the transcripts contains a second overlapping ORF which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed which results in different forms of the stimulatory G-protein alpha subunit a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a pseudohypoparathyroidism type 1b Albright hereditary osteodystrophy pseudopseudohypoparathyroidism McCune-Albright syndrome progressive osseus heteroplasia polyostotic fibrous dysplasia of bone and some pituitary tumors. [provided by RefSeq Mar 2009]

Gene Symbol:   GNAS
Gene Name:   GNAS complex locus
Aliases:   AHO, C20orf45, GNAS1, GPSA, GSA, GSP, MGC33735, NESP, PHP1A, PHP1B, PHP1C, POH
RefSeq:   NC_000020.10 NT_011362.10 NG_016194.1 NG_021433.1
Ensembl:   ENSG00000087460
Entrez:   2778
UniGene:   Hs.125898
Chromosome Mapping:   20q13.3

  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 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