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

COMTD1 Gene

protein-coding   GIFtS: 43
GCID: GC10M076993

catechol-O-methyltransferase domain containing 1

 Explore 5 diseases affiliated with
COMTD1 via our new
 Human Malady Compendium 
Biological research products
for COMTD1
    

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

Aliases
Catechol-O-Methyltransferase Domain Containing 11 2
FLJ238411
Catechol O-Methyltransferase Domain-Containing Protein 12
EC 2.1.1.-3

External Ids:    HGNC: 263091   Entrez Gene: 1188812   Ensembl: ENSG000001656447   UniProtKB: Q86VU53   

Export aliases for COMTD1 gene to outside databases

Previous GC identifers: GC10M076339 GC10M076663 GC10M070992


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

UniProtKB/Swiss-Prot: CMTD1_HUMAN, Q86VU5
Function: Putative O-methyltransferase (Potential)




(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_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COMTD1 gene promoter:
         FOXD1   CUTL1   E47   Roaz   FOXJ2 (long isoform)   SEF-1 (1)   Hand1   ZID   FOXJ2   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOMTD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for COMTD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COMTD1


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

Entrez Gene cytogenetic band: 10q22.2   Ensembl cytogenetic band:  10q22.2   HGNC chromosome: 10

COMTD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COMTD1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M076993:  view genomic region     (about GC identifiers)

Start:
76,993,727 bp from pter      End:
76,995,788 bp from pter
Size:
2,062 bases      Orientation:
minus 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: CMTD1_HUMAN, Q86VU5 (See protein sequence)
Recommended Name: Catechol O-methyltransferase domain-containing protein 1  
Size: 262 amino acids; 28809 Da
Subunit: Homodimer
Subcellular location: Membrane; Single-pass type II membrane protein (Potential)
1 PDB 3D structure from and Proteopedia for COMTD1:
2AVD (3D)    
Secondary accessions: Q8TE79

Explore the universe of human proteins at neXtProt for COMTD1: NX_Q86VU5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q86VU5

  • COMTD1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_653190.2  
    ENSEMBL proteins: 
     ENSP00000361616  

    Human Recombinant Protein Products: 
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    Novus Biologicals COMTD1 Protein
    Novus Biologicals COMTD1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for COMTD1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0016021integral to membrane IEA--


    COMTD1 for ontologies           About GeneDecksing



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    Uscn Antibodies for COMTD1
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    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for COMTD1


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

    COMTD1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002935 O-MeTrfase_3

    Graphical View of Domain Structure for InterPro Entry Q86VU5

    ProtoNet protein and cluster: Q86VU5

    1 Blocks protein family: IPB002935 O-methyltransferase

    UniProtKB/Swiss-Prot: CMTD1_HUMAN, Q86VU5
    Similarity: Belongs to the methyltransferase superfamily. Type 3 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: CMTD1_HUMAN, Q86VU5
    Function: Putative O-methyltransferase (Potential)

    Enzyme Number (IUBMB): EC 2.1.1.-1

    miRNA
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COMTD1 (see all 7)
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    OriGene siRNA: COMTD1
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    In Situ Assay
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    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for COMTD1

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008171O-methyltransferase activity IEA--


    COMTD1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for COMTD1:
     Decreased cilium length  Decreased cilium length after  


    (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 COMTD1

    (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 COMTD1

    3 DrugBank Compounds for COMTD1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Feruloyl Coenzyme A-- --target--17139284 17016423 10592235
    S-Adenosyl-L-Homocysteine-- 979-92-0target--17139284 17016423 10592235
    Sinapoyl Coenzyme A-- --target--17139284 17016423 10592235

    Search CenterWatch for drugs/clinical trials and news about COMTD1 / CMTD1 

    (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 COMTD1 gene: 
    NM_144589.2  

    Unigene Cluster for COMTD1:

    Catechol-O-methyltransferase domain containing 1
    Hs.355333  [show with all ESTs]
    Unigene Representative Sequence: AK302283
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372538(uc001jxb.3) ENST00000460899 ENST00000494596 ENST00000469299
    ENST00000470947 ENST00000490521 ENST00000491270

    miRNA
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COMTD1 (see all 7)
    OriGene shRNA RFP: COMTD1
    OriGene siRNA: COMTD1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COMTD1
    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COMTD1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COMTD1
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    GenScript: all cDNA clones in your preferred vector: COMTD1 (NM_144589)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COMTD1 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COMTD1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COMTD1

    Additional cDNA sequence: 

    AK074421.1 AK290452.1 AK302283.1 AY358476.1 BC023663.2 BC047774.1 

    6 DOTS entries:

    DT.309622  DT.100779861  DT.95161402  DT.91745036  DT.99968497  DT.95161403 

    24/102 AceView cDNA sequences (see all 102):

    BI832844 CD674768 F36954 AY358476 BM768764 BG680071 CR625911 BM141962 
    CA395926 CB852030 CK819655 NM_144589 BM769685 BG285119 AW157329 BC047774 
    BQ082692 AW163255 CR602194 BM451059 BM856156 BM826016 BQ083301 BM976177 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for COMTD1 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for COMTD1

    (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

    COMTD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CGGGAGCACC

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

    About this image
    See COMTD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COMTD1

    SOURCE GeneReport for Unigene cluster: Hs.355333
        SABiosciences Custom PCR Arrays for COMTD1
    Primer
    Products:
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COMTD1
    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for COMTD1

    (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 eukaryotes.

    Orthologs for COMTD1 gene from 7/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Comtd11 , 5 catechol-O-methyltransferase domain containing 11, 5 84.22(n)1
    85.5(a)1
      14 (11.92 cM)5
    691561  NM_026965.21  NP_081241.11 
     218458615 
    chicken
    (Gallus gallus)
    Aves COMTD11 catechol-O-methyltransferase domain containing 1 55.68(n)
    52.71(a)
      423730  XM_421605.3  XP_421605.3 
    lizard
    (Anolis carolinensis)
    Reptilia COMTD16
    --
    54(a)
    1 ↔ 1
    GL343196.1(2727589-2745147)
    zebrafish
    (Danio rerio)
    Actinopterygii comtd11 catechol-O-methyltransferase domain containing 1 55.13(n)
    50.71(a)
      568094  NM_001163808.1  NP_001157280.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y32B12A.36
    Y40B10A.66
    (see all 4)
    Protein Y40B10A.6
    (see all 4)
    37(a)
    36(a)
    (see all 4)
    many → 1
    many → 1
    (see all 4)
    V(16493634-16494428)
    V(2049222-2050171)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G619901 S-adenosyl-L-methionine-dependent methyltransferase-like more 46.24(n)
    39.22(a)
      825372  NM_116064.4  NP_191758.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g01540001 hypothetical protein 46.51(n)
    40(a)
      4344681  NM_001067547.1  NP_001061012.1 


    ENSEMBL Gene Tree for COMTD1 (if available)
    TreeFam Gene Tree for COMTD1 (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

    10/79 NCBI SNPs in COMTD1 are shown (see all 79    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1170963951,2
    F,--76993352(+) GCCGCC/TAGCAG 1 -- int11Minor allele frequency- T:0.03EA 120
    rs732810221,2
    C,--76993395(+) CACCCG/ATGGTC 1 -- int14Minor allele frequency- A:0.22WA NA EA 360
    rs1897516301,2
    --76993461(+) AGCTGC/TTCAGA 1 -- int10--------
    rs1440422491,2
    --76993581(+) CCTCCC/TGCCAG 1 -- int10--------
    rs1831344551,2
    --76993597(+) GGTTCC/GTGCAG 1 -- int10--------
    rs1398967551,2
    --76993598(+) GTTCCG/TGCAGT 1 -- int10--------
    rs1882206551,2
    --76993626(+) GCCAGA/GGAGGG 1 -- int10--------
    rs1917725521,2
    --76993627(+) CCAGGC/GAGGGG 1 -- int10--------
    rs1834721831,2
    --76993750(+) CACTTC/TATTTT 1 -- ut310--------
    rs10543211,2
    C--76993885(-) AGGGTC/TTACAT 2 V syn1 ese33Minor allele frequency- T:0.00MN NA 188

    HapMap Linkage Disequilibrium report for COMTD1 (76993727 - 76995788 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for COMTD1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COMTD1
    DNA2.0 Custom Variant and Variant Library Synthesis for COMTD1

    (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

    COMTD1 for disorders           About GeneDecksing

    5 diseases for COMTD1:    About MalaCards
    homocysteine    alzheimer's disease    pneumonia    tuberculosis
    mycobacterium tuberculosis

    Human Genome Epidemiology (HuGE) Navigator: COMTD1 (2 documents)

    Export disorders for COMTD1 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 COMTD1 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with COMTD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2, 3 Clark H.F.... Gray A.M. (2003)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    5. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    6. Genetic variants associated with breast size also infl uence breast cancer risk. (PubMed id 22747683)1 Eriksson N....Tung J.Y. (2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    9. Drugs, their targets and the nature and number of dru g targets. (PubMed id 17016423)7 Imming P....Meyer A. (2006)
    10. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1 Grupe A....Goate A. (2006)

    (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: 118881 HGNC: 26309 AceView: COMTD1 Ensembl:ENSG00000165644 euGenes: HUgn118881
    ECgene: COMTD1 H-InvDB: COMTD1

    (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 COMTD1 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 COMTD1 gene:
    Search GeneIP for patents involving COMTD1

    GeneCards and IP:
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     Browse OriGene Antibodies   OriGene shRNA RFP for COMTD1  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COMTD1   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COMTD1  
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     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat COMTD1
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     GenScript Custom Purified and Recombinant Proteins Services for COMTD1 GenScript cDNA clones with any tag delivered in your preferred vector for COMTD1
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     COMTD1 Proteins, Antibodies, CLIAs, and ELISAs
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     Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for COMTD1
     Browse SwitchGear 3'UTR luciferase reporter plasmids for COMTD1
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     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COMTD1
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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