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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CCDC135 Gene

protein-coding   GIFtS: 46
GCID: GC16P057728

coiled-coil domain containing 135

(Previous name: chromosome 16 open reading frame 50 )
(Previous symbol: C16orf50)
 Explore 1 disease affiliated with
CCDC135 via our new
 Human Malady Compendium 
Biological research products
for CCDC135
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Coiled-Coil Domain Containing 1351 2     DKFZp434I0991
C16orf501 2 3     Chromosome 16 Open Reading Frame 501
FAP501 2     Coiled-Coil Domain-Containing Protein Lobo Homolog2
Coiled-Coil Domain-Containing Protein 1352 3     

External Ids:    HGNC: 252891   Entrez Gene: 842292   Ensembl: ENSG000001596257   UniProtKB: Q8IY823   

Export aliases for CCDC135 gene to outside databases

Previous GC identifers: GC16P056288 GC16P043596


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

UniProtKB/Swiss-Prot: CC135_HUMAN, Q8IY82
Function: Plays a role in the regulation of germ cells differentiation during spermatogenesis, particularly during
meiosis and spermiogenesis. May be involved in sperm motility (By similarity)

Gene Wiki entry for CCDC135 (Coiled-coil domain-containing protein 135)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CCDC135 gene promoter:
         Max1   ER-alpha   STAT1   AML1a   STAT1beta   STAT1alpha   RORalpha1   N-Myc   ATF6   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC135 promoter sequence
   Search SABiosciences Chromatin IP Primers for CCDC135

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC135


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q21   Ensembl cytogenetic band:  16q21   HGNC cytogenetic band: 16q13

CCDC135 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC135 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P057728:  view genomic region     (about GC identifiers)

Start:
57,728,705 bp from pter      End:
57,765,717 bp from pter
Size:
37,013 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CC135_HUMAN, Q8IY82 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein lobo homolog  
Size: 874 amino acids; 103497 Da
Subcellular location: Cell projection, cilium, flagellum (By similarity)
Secondary accessions: A8K943 Q8NAA0 Q9H080
Alternative splicing: 2 isoforms:  Q8IY82-1   Q8IY82-2   

Explore the universe of human proteins at neXtProt for CCDC135: NX_Q8IY82

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IY82

  • CCDC135 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_115645.4  
    ENSEMBL proteins: 
     ENSP00000456441   ENSP00000353942   ENSP00000455994   ENSP00000377869   ENSP00000457676  
     ENSP00000454722   ENSP00000338938   ENSP00000456374   ENSP00000456323  

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    Novus Biologicals CCDC135 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CCDC135

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005929cilium IEA--
    GO:0019861flagellum ----


    CCDC135 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for CCDC135


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

    ProtoNet protein and cluster: Q8IY82

    UniProtKB/Swiss-Prot: CC135_HUMAN, Q8IY82
    Similarity: Belongs to the CCDC135 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: CC135_HUMAN, Q8IY82
    Function: Plays a role in the regulation of germ cells differentiation during spermatogenesis, particularly during
    meiosis and spermiogenesis. May be involved in sperm motility (By similarity)

    miRNA
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    hsa-miR-34a hsa-miR-34c-5p hsa-miR-449b hsa-miR-449a
    SwitchGear 3'UTR luciferase reporter plasmidCCDC135 3' UTR sequence
    Inhib. RNA
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    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC135

    1 GenomeRNAi human phenotype for CCDC135:
     Decreased TP53 protein express 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CCDC135

    3 Interacting proteins for CCDC135 (Q8IY823) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP6V1AP386063I2D: score=1 
    PHOSPHO2Q8TCD63I2D: score=1 
    RPS3AP612473I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001539ciliary or flagellar motility IEA--
    GO:0007283spermatogenesis IEA--
    GO:0030154cell differentiation IEA--


    CCDC135 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CCDC135
    Search CenterWatch for drugs/clinical trials and news about CCDC135 / CC135 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CCDC135 gene: 
    NM_032269.5  

    Unigene Cluster for CCDC135:

    Coiled-coil domain containing 135
    Hs.513635  [show with all ESTs]
    Unigene Representative Sequence: BC030661
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000569375 ENST00000360716(uc002emi.3 uc002emj.3 uc002emk.3)
    ENST00000569167 ENST00000394337 ENST00000563126 ENST00000564297 ENST00000336825
    ENST00000564132 ENST00000562250 ENST00000565609

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    4 QIAGEN miScript miRNA Assays for microRNAs that regulate CCDC135:
    hsa-miR-34a hsa-miR-34c-5p hsa-miR-449b hsa-miR-449a
    SwitchGear 3'UTR luciferase reporter plasmidCCDC135 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CCDC135 (see all 7)
    OriGene shRNA RFP: CCDC135
    OriGene siRNA: CCDC135
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCDC135
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC135

    Additional cDNA sequence: 

    AK093035.1 AK093822.1 AK292558.1 AL136907.1 BC030661.1 BC036667.1 

    7 DOTS entries:

    DT.120662349  DT.206925  DT.101979090  DT.100020840  DT.95299688  DT.120662346  DT.65286607 

    24/31 AceView cDNA sequences (see all 31):

    AL136907 AX747872 AK093035 AL046757 BM985199 AI624796 BX099802 AA889649 
    BU934453 BM982846 BQ421215 BC030661 AW172303 NM_032269 AK093822 AL039976 
    BC036667 AX748325 AA724461 BQ027398 AI139000 AW182121 BI465383 AA884996 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CCDC135    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20
    SP1:                                                                                                  -                           
    SP2:                                      -                                                           -                           
    SP3:                                                                                                                              
    SP4:                                                                                                                              


    ECgene alternative splicing isoforms for CCDC135

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CCDC135 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTTTCCTGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    CCDC135 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CCDC135 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCDC135

    SOURCE GeneReport for Unigene cluster: Hs.513635
        SABiosciences Custom PCR Arrays for CCDC135
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC135

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CCDC135 gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc1351 , 5 coiled-coil domain containing 1351, 5 83.62(n)1
    83.28(a)1
      8 (47.12 cM)5
    3308301  NM_001042715.31  NP_001036180.21 
     950551035 
    chicken
    (Gallus gallus)
    Aves CCDC1351 coiled-coil domain containing 135 64.37(n)
    58.21(a)
      427527  XM_425101.3  XP_425101.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    66(a)
    64(a)
    many → 1
    many → 1
    GL344738.1(349-4708)
    GL343677.1(162565-171611)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.53242 Transcribed sequence with moderate similarity to protein more 80.65(n)    BQ522566.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5557821 coiled-coil domain-containing protein 135-like 54.68(n)
    47.75(a)
      555782  XM_678399.5  XP_683491.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta lobo1 lost boys 45.36(n)
    30.64(a)
      4379864  NM_001043292.1  NP_001036757.1 


    ENSEMBL Gene Tree for CCDC135 (if available)
    TreeFam Gene Tree for CCDC135 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/822 NCBI SNPs in CCDC135 are shown (see all 822    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1500191571,2
    --57726906(+) ACTGCC/TCCAAA 1 -- us2k10--------
    rs756380161,2
    F,--57726914(+) AAACCG/ATCAAG 1 -- us2k11Minor allele frequency- A:0.05EA 120
    rs74999581,2
    C,A,--57726920(+) TCAAGA/CGGTAG 1 -- us2k1 tfbs35Minor allele frequency- C:0.21NA WA EA 362
    rs38867511,2
    C,F,A,--57726922(-) CCCTAC/TCTCTT 1 -- us2k1 tfbs38Minor allele frequency- T:0.21NA WA EA 488
    rs20776121,2
    C,F,H,--57726964(+) GCGCCG/AGGGTG 1 -- us2k112Minor allele frequency- A:0.20NA NS EA WA CSA 784
    rs20785531,2
    C,F,A,--57726980(-) TTGGAT/CGGATA 1 -- us2k114Minor allele frequency- C:0.22NS NA WA EA 608
    rs1839527591,2
    --57727003(+) GGAAAC/TGTACA 1 -- us2k10--------
    rs604767051,2
    C,--57727053(+) GGGAGA/GTGAGT 1 -- us2k12Minor allele frequency- G:0.10CSA WA 120
    rs42387971,2
    C--57727062(+) GTCTGT/CTCATC 1 -- us2k12Minor allele frequency- C:0.00NA 4
    rs42387991,2
    C,H--57727120(+) GTTCAG/TGGCTG 1 -- us2k16Minor allele frequency- T:0.00NS EA NA 420

    HapMap Linkage Disequilibrium report for CCDC135 (57728705 - 57765717 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CCDC135
         1 CNV: 4958

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CCDC135 for disorders           About GeneDecksing

    1 disease for CCDC135:    About MalaCards
    malaria

    1 disease from the University of Copenhagen DISEASES database for CCDC135:
    Nephronophthisis

    Export disorders for CCDC135 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CCDC135 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with CCDC135)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Regulation of flagellar motility by the conserved flag ellar protein CG34110/Ccdc135/FAP50. (PubMed id 21289096)1, 3 Yang Y....Lu X. (2011)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    5. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    8. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. (PubMed id 11256614)1 Simpson J.C.... Wiemann S. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84229 HGNC: 25289 AceView: DKFZp434I099 Ensembl:ENSG00000159625 euGenes: HUgn84229
    ECgene: CCDC135 H-InvDB: CCDC135

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CCDC135 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CCDC135 gene:
    Search GeneIP for patents involving CCDC135

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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