PrimePCR™ ddPCR™ Copy Number Assay: ASL, 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 7q Assay (7q11.21); FAM; 70nt amplicon; crosses exon-intron junction; FAM version of ASL (dHsaCP2506678)

 
Fluorophore:   FAM
List Price:    $254.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Copy Number Variation
Unique Assay ID:   dHsaCP2506268
Chromosome Location:   hg197:65554072-65554194question
Amplicon Length:   70
Reference Assays:   , , ,
Restriction Enzymes:   HaeIII

Gene Information

This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq Jul 2008]

Gene Symbol:   ASL
Gene Name:   argininosuccinate lyase
Aliases:   ASAL
RefSeq:   NC_000007.13 NG_009288.1 NT_007933.15
Ensembl:   ENSG00000126522
Entrez:   435
UniGene:   Hs.632015
Chromosome Mapping:   7cen-q11.2

  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