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CCDC102B Gene

protein-coding   GIFtS: 44
GCID: GC18P066382

Coiled-Coil Domain Containing 102B

(Previous names: chromosome 18 open reading frame 14, aminoacylase 1-like)
(Previous symbols: C18orf14, ACY1L)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Coiled-Coil Domain Containing 102B1 2     Chromosome 18 Open Reading Frame 141
C18orf141 2 3     AN2
ACY1L1 2     HsT17312
Aminoacylase 1-Like1     Coiled-Coil Domain-Containing Protein 102B2

External Ids:    HGNC: 262951   Entrez Gene: 798392   Ensembl: ENSG000001506367   UniProtKB: Q68D863   

Export aliases for CCDC102B gene to outside databases

Previous GC identifers: GC18P064616 GC18P064533 GC18P063100


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CCDC102B Gene:
CCDC102B (coiled-coil domain containing 102B) is a protein-coding gene. An important paralog of this gene is CCDC102A.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000018.9  NT_010966.15  NC_018929.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC102B gene promoter:
         FOXF2   FOXO3   NF-kappaB   FOXO3b   FOXL1   GCNF-1   NF-kappaB2   FOXO3a   NF-kappaB1   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC102B promoter sequence
   Search Chromatin IP Primers for CCDC102B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC102B


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

Entrez Gene cytogenetic band: 18q22.1   Ensembl cytogenetic band:  18q22.1   HGNC cytogenetic band: 18q22.1

CCDC102B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC102B gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P066382:  view genomic region     (about GC identifiers)

Start:
66,382,446 bp from pter      End:
66,722,426 bp from pter
Size:
339,981 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: C102B_HUMAN, Q68D86 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 102B  
Size: 513 amino acids; 60448 Da
Sequence caution: Sequence=AAH56269.1; Type=Miscellaneous discrepancy; Note=wrong intron-exon boundaries;
Sequence=BAB15706.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAD38721.2;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAD38721.2; Type=Frameshift;
Positions=200;
Secondary accessions: Q7Z467 Q8NDK7 Q9H5C1
Alternative splicing: 2 isoforms:  Q68D86-1   Q68D86-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC102B: NX_Q68D86

Explore proteomics data for CCDC102B at MOPED


See CCDC102B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001087198.1  NP_079057.2  

ENSEMBL proteins: 
 ENSP00000461987   ENSP00000463399   ENSP00000463538   ENSP00000353377   ENSP00000462150  
 ENSP00000463111   ENSP00000316237   ENSP00000351479  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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ProtoNet protein and cluster: Q68D86


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Phenotypes:
     1 GenomeRNAi human phenotype for CCDC102B:
 Increased number of cells in m 

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC102B
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miRNA
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miRTarBase miRNAs that target CCDC102B:
hsa-mir-124-3p (MIRT022256)

Block miRNA regulation of human, mouse, rat CCDC102B using miScript Target Protectors
1 qRT-PCR Assays for microRNA that regulate CCDC102B:
hsa-miR-3145-3p
SwitchGear 3'UTR luciferase reporter plasmidCCDC102B 3' UTR sequence
Inhib. RNA
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol3
nucleus2
mitochondrion1

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CCDC102B
Interactions:

    Search GeneGlobe Interaction Network for CCDC102B

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for CCDC102B (C102B)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for CCDC102B gene (2 alternative transcripts): 
NM_001093729.1  NM_024781.2  

Unigene Cluster for CCDC102B:

Coiled-coil domain containing 102B
Hs.280781  [show with all ESTs]
Unigene Representative Sequence: NM_001093729
13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000582077 ENST00000578970 ENST00000582371 ENST00000584775 ENST00000580292(uc002lkh.2)
ENST00000360242(uc002lki.2) ENST00000581520 ENST00000577772(uc002lkj.1)
ENST00000584156 ENST00000577800 ENST00000581103 ENST00000319445(uc002lkk.2)
ENST00000358653
miRNA
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1 qRT-PCR Assays for microRNA that regulate CCDC102B:
hsa-miR-3145-3p
SwitchGear 3'UTR luciferase reporter plasmidCCDC102B 3' UTR sequence
Inhib. RNA
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  QuantiFast Probe-based Assays in human, mouse, rat CCDC102B

Additional mRNA sequence: 

AK027247.1 AK057282.1 AK091108.1 AK225597.1 AK308114.1 AL833863.1 BC056269.1 BC126448.1 
BC126450.1 CR749520.1 

8 DOTS entries:

DT.439815  DT.95356889  DT.40295818  DT.101977780  DT.111940  DT.40126678  DT.91754828  DT.91675477 

24 AceView cDNA sequences:

BQ003970 CK823962 AA436734 AA994548 BX102568 NM_024781 AK057282 CR749520 
AI262120 AI337113 AW964249 AK027247 BC056269 BX091569 AA932364 AL833863 
AV682652 BG541131 BI523645 BM875518 BI524799 CD358365 BM875267 BF091438 

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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CCDC102B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CAGGGAGAAG
CCDC102B Expression
About this image

CCDC102B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

CCDC102B Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.280781
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In Situ
Assay Products:
 

 
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(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)
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This gene was present in the common ancestor of animals.

Orthologs for CCDC102B gene from Selected species (see all 8)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
dog
(Canis familiaris)
Mammalia CCDC102B1 coiled-coil domain containing 102B 83.3(n)
77.22(a)
  483942  XM_541062.4  XP_541062.4 
chicken
(Gallus gallus)
Aves CCDC102B6
coiled-coil domain containing 102B
43(a)
1 ↔ 1
2(94088925-94213373)
lizard
(Anolis carolinensis)
Reptilia CCDC102B6
coiled-coil domain containing 102B
42(a)
1 ↔ 1
4(46475319-46480460)
worm
(Caenorhabditis elegans)
Secernentea F53F10.16
Protein F53F10.1 (F53F10.1) mRNA, complete cds
32(a)
1 ↔ 1
I(3834117-3837765) WBGene00018763


ENSEMBL Gene Tree for CCDC102B (if available)
TreeFam Gene Tree for CCDC102B (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for CCDC102B gene
CCDC102A2  
1 SIMAP similar gene for CCDC102B using alignment to 7 protein entries:     C102B_HUMAN (see all proteins):
CCDC102A

Find genes that share paralogs with CCDC102B           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for CCDC102B (see all 7023)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 18 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1132330461,2
C--63182343(+) ATGCA-/TG    
   
/TGTG
TGTGT
2 -- int1 us2k11CSA 2
rs58258851,2
C--63308697(+) TATTG-/AGCACCT 2 -- int10--------
rs1920933681,2
--66235369(+) TCCCAA/GTAAGG 1 -- us2k10--------
rs1115009251,2
C,F--66235404(+) GTTGGG/AAGTGT 1 -- us2k11Minor allele frequency- A:0.50NA 2
rs1479538181,2
--66235409(+) GAGTGC/TAGACA 1 -- us2k10--------
rs1417995821,2
C--66235426(+) TGAGCA/GTGGCT 1 -- us2k10--------
rs1852793861,2
--66235608(+) CTCCTC/TACTTA 1 -- us2k10--------
rs1999913131,2
C--66235833(+) AAGTG-/AAAAAA 1 -- us2k10--------
rs2001182931,2
--66235907(+) TATCTC/GAGTTG 1 -- us2k10--------
rs1906210541,2
C--66235910(+) CTGAGG/TTGGAC 1 -- us2k10--------

HapMap Linkage Disequilibrium report for CCDC102B (66382446 - 66632446 bp, first 250kb of CCDC102B)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for CCDC102B (see all 39):    About this table    
Variant IDTypeSubtypePubMed ID
esv2717283CNV Deletion23290073
esv2653298CNV Deletion19546169
esv2717282CNV Deletion23290073
esv2094660CNV Deletion18987734
esv2597360CNV Insertion19546169
esv273600CNV Insertion20981092
nsv507880CNV Insertion20534489
esv274202CNV Insertion20981092
esv1339608CNV Insertion17803354
esv268163CNV Insertion20981092

Site Specific Mutation Identification with 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.)
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1 disease from the University of Copenhagen DISEASES database for CCDC102B:
Congenital diaphragmatic hernia

Find genes that share disorders with CCDC102B           About GenesLikeMe

Genetic Association Database (GAD): CCDC102B
Human Genome Epidemiology (HuGE) Navigator: CCDC102B (1 document)

Export disorders for CCDC102B 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)
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PubMed articles for CCDC102B gene, integrated from 10 sources (see all 14):
(articles sorted by number of sources associating them with CCDC102B)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2, 3 Ota T.... Sugano S. (Nat. Genet. 2004)
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
  3. 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. (Genome Res. 2004)
  4. Genome-wide association study of liver enzymes in korean children. (PubMed id 24124411)1 Park T.J....Lee J.Y. (amp 2013)
  5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
  6. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (BMC Med. Genet. 2007)
  7. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (BMC Med. Genet. 2007)
  8. Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. (PubMed id 17903294)4 Yang Q....O'Donnell C.J. (BMC Med. Genet. 2007)
  9. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
  10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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 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)
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Entrez Gene: 79839 HGNC: 26295 AceView: C18orf14 Ensembl:ENSG00000150636 euGenes: HUgn79839
ECgene: CCDC102B H-InvDB: CCDC102B

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for CCDC102B Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for CCDC102B gene:
Search GeneIP for patents involving CCDC102B

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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Block miRNA regulation of human, mouse, rat CCDC102B using miScript Target Protectors SeqTarget long-range PCR primers for resequencing CCDC102B
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 Custom PCR Arrays for CCDC102B Search Chromatin IP Primers for CCDC102B
 Pre-validated RT2 qPCR Primer Assay in human, mouse / rat CCDC102B  Search GeneGlobe Interaction Network for CCDC102B
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 Search Tocris compounds for CCDC102B (C102B)
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

 Novus Tissue Slides
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 Browse ESI BIO Cell Lines and PureStem Progenitors for CCDC102B
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 SwitchGear 3'UTR luciferase reporter plasmids for CCDC102B
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 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC102B
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 Search Addgene for plasmids for CCDC102B
  Search eBioscience for proteins for CCDC102B
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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