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JPH3 Gene

protein-coding   GIFtS: 62

GC16P086194
junctophilin 3
(Previous name: trinucleotide repeat containing 22 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: TNRC22)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
CAGL237 1, 2
FLJ44707 2
HDL2 1, 2, 5
JP-3 1, 2, 3
JP3 1, 2, 3, 5
TNRC22 2, 3
Descriptions
Junctophilin type 3 2, 3
Trinucleotide repeat-containing gene 22 protein 3
junctophilin 3 2
trinucleotide repeat containing 22 1, 2
External Ids
HGNC: 142031
Entrez Gene: 573382
UniProtKB: Q8WXH23
Ensembl: ENSG000001541187
Search outside databases for aliases for JPH3 gene

Previous GC identifers: GC16P078973 GC16P088667 GC16P087377 GC16P087417

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for JPH3:
Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a
common feature of all excitable cell types and mediate cross talk between cell surface and
intracellular ion channels. The protein encoded by this gene is a component of junctional
complexes and is composed of a C-terminal hydrophobic segment spanning the
endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific
affinity for the plasma membrane. CAG/CTG repeat expansions at the Huntington's disease
(HD)-like 2 locus have been identified in this gene, which is a member of the junctophilin gene
family. [provided by RefSeq]

UniProtKB/Swiss-Prot: JPH3_HUMAN, Q8WXH2
Function: Contributes to the stabilization of the junctional membrane complexes, which are common
to excitable cells and mediate cross-talk between cell surface and intracellular ion channels.
Probably acts by anchoring the plasma membrane and endoplasmic reticulum. May play an active role
in certain neurons involved in motor coordination (By similarity)

Gene Wiki entry for JPH3

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the JPH3 gene  

Entrez Gene cytogenetic band: 16q24.3   Ensembl cytogenetic band:  16q24.2   HGNC cytogenetic band: 16q24.3

JPH3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P086194:     (about GC identifiers)

Start:
86,194,000 bp from pter
End:
86,289,263 bp from pter
Size:
95,264 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000016.8  NT_010498.15  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: JPH3_HUMAN, Q8WXH2 (See protein sequence)
Recommended Name: Junctophilin-3  
Size: 748 amino acids; 81469 Da
Subcellular location: Cell membrane; Peripheral membrane protein (By similarity). Endoplasmic
reticulum membrane; Single-pass type IV membrane protein (By similarity). Note=Localized
predominantly on the plasma membrane. The transmembrane domain is anchored in endoplasmic
reticulum membrane, while the N-terminal part associates with the plasma membrane (By similarity)
Secondary accessions: Q8N471 Q9HDC3 Q9HDC4
Alternative splicing: 2 isoforms:  Q8WXH2-1   Q8WXH2-2   (Additional isoforms seem to exist)

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_065706.2  

    ENSEMBL proteins: 
    ENSP00000284262 ENSP00000301008 ENSP00000376916 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
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    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (JPH3)
    Browse Abnova for Human Recombinant Proteins
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    5 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783 endoplasmic reticulum IEA--
    GO:0005789 endoplasmic reticulum membrane IEA--
    GO:0005886 plasma membrane IEA--
    GO:0014701 junctional sarcoplasmic reticulum membrane TAS19095005
    GO:0016021 integral to membrane NAS10891348
    About this table

    Antibodies for JPH3: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for JPH3
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (JPH3), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for JPH3

    Assays for JPH3: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    2 InterPro domains/families:
     IPR017191 Junctophilin
     IPR003409 MORN


       GeneDecks  JPH3 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q8WXH2

    ProtoNet protein and cluster: Q8WXH2

    1 Blocks protein family: IPB003409 MORN motif

    UniProtKB/Swiss-Prot: JPH3_HUMAN, Q8WXH2
    Domain: The MORN (membrane occupation and recognition nexus) repeats contribute to the plasma
    membrane binding, possibly by interacting with phospholipids (By similarity)
    Similarity: Belongs to the junctophilin family
    Similarity: Contains 8 MORN repeats

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (JPH3)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_020655

                  Applied Biosystems Silencer® siRNAs for JPH3

                  Sigma-Aldrich siRNA for JPH3  
                         Sigma-Aldrich shRNA for JPH3  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_020655
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_020655
                                     untagged cDNA clone in CMV expression vector: NM_020655 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_020655

    UniProtKB/Swiss-Prot: JPH3_HUMAN, Q8WXH2
    Function: Contributes to the stabilization of the junctional membrane complexes, which are common
    to excitable cells and mediate cross-talk between cell surface and intracellular ion channels.
    Probably acts by anchoring the plasma membrane and endoplasmic reticulum. May play an active role
    in certain neurons involved in motor coordination (By similarity)

    5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Jph3):

    behavior/neurologicalgrowth/sizelethality-postnatalnervous systemreproductive system

    2 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674 molecular_function ND--
    GO:0005515 protein binding IPI17353931
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


     Gene Network CentralTM Interacting Genes and Proteins Network for  JPH3 


    5/8 Interacting proteins for JPH3 (ENSP000002842623 Q8WXH21, 2) via UniProtKB, MINT, and/or STRING (see all 8 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STK24Q5T5B31EBI-1055254, EBI-1054809
    SMAD3P840222MINT-51254
    VPS13AENSP000003534223STRING (score=.801)
    ATN1ENSP000003490763STRING (score=.783)
    TBPENSP000002303543STRING (score=.775)
    About this table

    2 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0060314 regulation of ryanodine-sensitive calcium-release channel activity TAS19095005
    GO:0060402 calcium ion transport into cytosol TAS19095005
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for JPH3
    1 Novoseek chemical compound relationship for JPH3 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    it 15 90.16 2 11914418 (1), 18651325 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (JPH3)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_020655

                  Sigma-Aldrich siRNA for JPH3  
                         Sigma-Aldrich shRNA for JPH3  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_020655  

    REFSEQ mRNAs for JPH3 gene: 

    NM_020655.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_020655  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_020655
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_020655
                                     untagged cDNA clone in CMV expression vector: NM_020655 

    Additional cDNA sequence: 

    AB042636.1 AK055486.1 AK097679.1 AK126663.1 AK295518.1 AK297215.1 BC008690.1 BC036533.2 
    CR613927.1 

    6 DOTS entries:

    DT.113712  DT.97806098  DT.70104213  DT.99929998  DT.95139156  DT.40226252 

    1 AceView cDNA sequence:

    U80757 

    highest scoring ESTs for JPH3:

    AI869975 AA350130 AA351118 AB042636 AI206926 AI366528 AI869958 AI962207 AI962553 AK055486 

    Unigene Cluster for JPH3:

    Junctophilin 3
    Hs.592068  [show with all ESTs]
    Unigene Representative Sequence: AK126663


    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for JPH3 (see all 6 )

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
    SP1:                                                                              
    SP2:                    -     -                                                   
    SP3:                    -                                                         
    SP4:                                                                              
    SP5:                                                                              

    About this scheme

    ECgene alternative splicing isoforms for JPH3

    3 Ensembl transcripts including schematic representations:
    ENST00000284262  ENST00000301008  ENST00000393224  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    JPH3 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for JPH3

    1 / 2 / 3

    8 probe-sets matching JPH3 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    62166_at2, 3 U95-C 1 1.00 1.00 0.92 1.49 AI869975 1.00 1.00 1.00 1

    33065_at*2, 3 U95-A 1 -- -- 0.25 0.55 U80757 0.60 1.00 0.82 1

    220188_at2, 3 U133-A 1 1.00 1.00 -- -- NM_020655 0.60 1.00 0.82 1

    243679_at2, 3 U133-B 1 1.00 1.00 -- -- AI680727 0.60 1.00 0.82 1

    229294_at2, 3 U133-B 1 1.00 1.00 -- -- AL537395 0.80 1.00 0.91 1

    220188_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    243679_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    229294_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  JPH3 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TTCCAGTTAA

    SOURCE GeneReport for Unigene cluster: Hs.592068

    Expression variation in blood from EXPOLDB for JPH3

    UniProtKB/Swiss-Prot: JPH3_HUMAN, Q8WXH2
    Tissue specificity: Specifically expressed in brain

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for JPH3 gene from 5/8 species (see all 8 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    JPH31   -- junctophilin 3 90.24(n)
    91.44(a)
    489669  XM_546789.2  XP_546789.2 
    chimpanzee
    (Pan troglodytes)
    JPH31   -- junctophilin 3 98.96(n)
    99.29(a)
    468063  XM_001153256.1  XP_001153256.1 
    cow
    (Bos taurus)
    JPH31   -- junctophilin 3 90.86(n)
    91.58(a)
    507713  XM_584374.3  XP_584374.3 
    rat
    (Rattus norvegicus)
    Jph31   -- junctophilin 3 88.83(n)
    92.87(a)
    307916  XM_226549.4  XP_226549.4 
    mouse
    (Mus musculus)
    Jph31, 5 85
    junctophilin 31, 5 88.84(n)1
    92.55(a)1
    573401  NM_020605.21  NP_065630.11 
     AB0244495  AB0244505  (see all 14)
    About this table        Species with no ortholog for JPH3

    ENSEMBL Gene Tree for JPH3
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for JPH3 gene
    JPH22  JPH42  JPH12  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section

    UniProtKB/Swiss-Prot: JPH3_HUMAN, Q8WXH2
    Polymorphism: The length of the poly-Ala region of isoform 2 is variable (6 to 27 CTG/CAG triplets)
    in the normal population and may be expanded (41 to 58 CTG/CAG triplets) in patients suffering
    from Huntington disease-like type 2


    10/925 NCBI SNPs in JPH3 are shown (see all 925 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 276)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 16 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs11292121,2
    A,C,F,H,O86289379(-) GAAAGC/TGACAT 1 -- ng316Minor allele frequency- T:0.02EA MN EU WA 2096
    rs23037681,2
    A,C,F,H86289610(-) TGCCTC/GTGTGC 1 -- ng319Minor allele frequency- G:0.14EA EU WA 2312
    rs25731161,2
    A,C,F,H86192118(+) GGTCAG/ATTGCT 1 -- ng514Minor allele frequency- A:0.37EU EA WA 412
    rs24348501,2
    C,F,H86192809(+) GGAAGA/GGGGGC 1 -- ng51 trp34Minor allele frequency- G:0.37EU EA WA 412
    --
    rs32173321,2
    C86289466(-) AGTCT-/GAGAGCTGCAC
    AGAGCAGGAGTCT
    TTATT
    1 -- ng310--------
    rs9183681,2
    A,C,F,H86235645(+) CTGAGC/TGGGCT 1 S/S syn1 ese38Minor allele frequency- T:0.31MN EA EU WA NA 2282
    rs99342221,2
    A,C,F,H86235750(+) TCCACG/AGCCAG 1 T/T syn1 ese34Minor allele frequency- A:0.11EU EA WA 412
    rs37517251,2
    C,F,H86235666(+) AAGTCG/AGAGTC 1 S/S syn114Minor allele frequency- A:0.42EA NA EU WA 2648
    rs80514901,2
    C,F,H86236014(+) CTCGTC/TGGCGG 1 V/V syn1 ese34Minor allele frequency- T:0.02EU EA WA 414
    --
    rs80514481,2
    C86235942(+) CGGCGC/TCATGG 1 R/R syn10--------
    About this table

    HapMap Linkage Disequilibrium images for JPH3 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 605268   disorders: 606438  

    UniProtKB/Swiss-Prot: JPH3_HUMAN, Q8WXH2

  • Defects in JPH3 are the cause of Huntington disease-like type 2 (HDL2) [MIM:606438].
    Huntington disease (HD) is a neurodegenerative disorder resulting primarily from the loss of
    medium spiny projection neurons in the striatum, especially in the caudate nucleus, and, to a
    lesser extent, atrophy of mesencephalic and cortical structures. The typical clinical picture of
    HD combines familial adult onset chorea and subcortical dementia that usually begin during the
    fourth decade of life
  • 5 Novoseek disease relationships for JPH3 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    huntington disease-like 2 99.02 4 11694876 (1), 17708569 (1), 18651325 (1)
    sca17 95.06 3 17805246 (1), 18651325 (1)
    drpla 85.54 6 18651325 (2), 18181206 (1)
    huntington disease 84.71 5 18651325 (2), 11914418 (1), 12805114 (1)
    neurodegenerative diseases 57.69 3 17708569 (1), 18651325 (1)
    About this table

    GeneTests: JPH3
    Huntington Disease-Like 2

    Human Gene Mutation Database: JPH3
    Genetic Association Database: JPH3
    Human Genome Epidemiology Navigator: JPH3 (4 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/29 PubMed articles for JPH3 gene (see all 29 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 57338 HGNC: 14203 AceView: JPH3.1 Ensembl:ENSG00000154118 euGenes: HUgn57338
    ECgene: JPH3 H-InvDB: JPH3
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=JPH3
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for JPH3:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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