KIAA1468 Gene
protein-coding GIFtS : 46
GCID: GC18 P059861
KIAA1468
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Aliasesfor KIAA1468 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases KIAA1468 1 2 LisH Domain And HEAT Repeat-Containing Protein KIAA14682 HsT33081 2 EC 2.4.2.188 HsT8851 2 EC 5.3.1.248 FLJ338411
Export aliases for KIAA1468 gene to outside databases Previous GC identifers: GC18P059726 GC18P058037 GC18P058005 GC18P056565
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Summariesfor KIAA1468 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section --
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Genomic Viewsfor KIAA1468 gene
(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_000018.9 NC_018929.1 NT_025028.14 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the KIAA1468 gene promoter: USF1 POU3F1 Olf-1 Nkx2-5 NF-kappaB POU2F1 POU2F1a NF-kappaB2 USF-1 NF-kappaB1 Other transcription factors Search SABiosciences Chromatin IP Primers for KIAA1468 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat KIAA1468
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 18q21.33 Ensembl cytogenetic band: 18q21.33 HGNC cytogenetic band: 18q21.33 KIAA1468 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 18 GeneLoc Exon Structure
GeneLoc location for GC18P059861: view genomic region
(about GC identifiers )
Start:
59,854,491 bp from pter
End:
59,974,355 bp from pter
Size:
119,865 bases
Orientation:
plus strand
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Proteinsfor KIAA1468 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
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: K1468_HUMAN, Q9P260 (See
protein sequence )Recommended Name: LisH domain and HEAT repeat-containing protein KIAA1468 Size : 1216 amino acids; 134630 DaAlternative splicing : 2 isoforms : Q9P260-1 Q9P260-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for KIAA1468: NX_Q9P260 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q9P260 2 DME Specific Peptides for KIAA1468 (Q9P260 ) KIAA1468 Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins: NP_065905.2 ENSEMBL proteins: ENSP00000256858 ENSP00000381198 ENSP00000468816 ENSP00000464995 Human Recombinant Protein Products for KIAA1468: KIAA1468 Antibody Products: Assay Products for KIAA1468:
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Protein
Domains / Familiesfor KIAA1468 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
KIAA1468 for domains About GeneDecksing 4 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q9P260 ProtoNet protein and cluster: Q9P260
1 Blocks protein family : IPB000357 HEAT repeat UniProtKB/Swiss-Prot: K1468_HUMAN, Q9P260 Similarity : Contains 3 HEAT repeatsSimilarity : Contains 1 LisH domain
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Functionfor KIAA1468 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory ,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase ,
shRNA from
OriGene ,
Sirion Biotech ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Sirion Biotech ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
Sirion Biotech ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Enzyme Numbers (IUBMB): EC 5.3.1.24 2 EC 2.4.2.18 2 Phenotypes: 2 GenomeRNAi human phenotypes for KIAA1468 :Animal Models: Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for KIAA1468 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for KIAA1468OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: KIAA1468 (NM_020854 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KIAA1468 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat KIAA1468
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA1468
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Pathways & Interactionsfor KIAA1468 gene
(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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
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 KIAA1468 STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)1 Interacting protein for KIAA1468 (ENSP00000381198 4 ) via UniProtKB, MINT, STRING , and/or I2D About this table
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Drugs & Compoundsfor KIAA1468 gene (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 Tocris compounds for KIAA1468 Search CenterWatch for drugs/clinical trials and news about KIAA1468 / K1468
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Transcriptsfor KIAA1468 gene (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 ,
Sirion Biotech ,
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 KIAA1468 gene: NM_020854.3 Unigene Cluster for KIAA1468:
KIAA1468 Hs.465323 [show with all ESTs ] Unigene Representative Sequence: NM_020854 12 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000256858 (uc010xel.2 uc002lim.3 ) ENST00000398130 (uc002lik.1 uc002lil.3 )ENST00000587725 ENST00000590713 ENST00000592479 ENST00000591227 ENST00000588446 ENST00000586920 ENST00000587764 ENST00000587198 ENST00000587714 ENST00000593217 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for KIAA1468 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for KIAA1468OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: KIAA1468 (NM_020854 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KIAA1468 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat KIAA1468
Additional cDNA sequence: AK025228.1 AK091160.1 AK315400.1 BC011992.1 BX648481.1
7 DOTS entries : DT.91799396 DT.95140160
DT.416149 DT.100738739 DT.91976117 DT.92041400 DT.100023509 24/136 AceView cDNA sequences (see all 136 ):
AA491114 F09701 BM996436 BM692461 BQ022228 N35330 BF475612 AI688222 CB160116 AI445289 BQ716126 CA431586 AW629301 AI658491 BU150470 BC011992 AX746817 AI697837 AA426182 AW086169 CD722738 BP871556 BP873077 BX483072 GeneLoc Exon Structure 4 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1468 About this scheme ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ SP1 :                           -                         -   SP2 :                           -                           SP3 :                           -                     -     -   SP4 :                                                    
ExUns: 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 SP1 :     -   -                 SP2 :     -     -               SP3 :                       SP4 :                      
ECgene alternative splicing isoforms for KIAA1468
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Expression for KIAA1468 gene
(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 KIAA1468 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: TCAAAAATGTAbout this image KIAA1468 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table
2 LifeMap In Vivo Development Anatomical Compartments/Cells Tissue Anatomical Compartment
Cell Category (developmental path) Kidney Cap Mesenchyme Cap Mesenchyme Cells Kidney Kidney S-shaped Body Kidney Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
See KIAA1468 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for KIAA1468 SOURCE GeneReport for Unigene cluster: Hs.465323 SABiosciences Custom PCR Arrays for KIAA1468 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for KIAA1468Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat KIAA1468 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat KIAA1468 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat KIAA1468 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA1468
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Orthologsfor KIAA1468 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl 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 KIAA1468 gene from 8/21 species (see all 21 ) About this table
ENSEMBL Gene Tree for KIAA1468 (if available)TreeFam Gene Tree for KIAA1468 (if available)
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Paralogsfor KIAA1468 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for KIAA1468 gene
KIAA1468 for paralogs About GeneDecksing 1 Pseudogenes.org Pseudogene for KIAA1468 PGOHUM00000232969
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Genomic Variantsfor KIAA1468 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
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
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 18 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for KIAA1468 (59854491 - 59974355 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for KIAA1468 1 Indel : 58843
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing KIAA1468
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Disorders
/ Diseasesfor KIAA1468 gene
(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
KIAA1468 for disorders About GeneDecksing 2 diseases for KIAA1468 : About MalaCards chronic recurrent multifocal osteomyelitis osteomyelitis Human Genome Epidemiology (HuGE) Navigator: KIAA1468 (1 document)Export disorders for KIAA1468 gene to outside databases
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Publicationsfor KIAA1468 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for KIAA1468 gene, integrated from 9 sources (see all 16 ): (articles sorted by number of sources associating them with KIAA1468) Utopia : connect your pdf to the dynamic world of online information
Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22. (PubMed id 11973628) 1 , 3 Golla A....Meindl A. (2002) Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331) 1 , 2 Nagase T.... Ohara O. (2000) A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883) 1 Kristensen A.R....Foster L.J. (2012) Initial characterization of the human central proteome. (PubMed id 21269460) 2 Burkard T.R.... Colinge J. (2011) A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473) 1 Wagner S.A....Choudhary C. (2011) System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692) 2 Rigbolt K.T....Blagoev B. (2011) Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048) 1 Danielsen J.M....Nielsen M.L. (2011) Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094) 1 Emanuele M.J....Elledge S.J. (2011) Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614) 1 Rose J.E....Uhl G.R. (2010) Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231) 2 Olsen J.V....Mann M. (2010)
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External Searches for KIAA1468 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing KIAA1468 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing KIAA1468 gene
(According to HUGE )
About This Section
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Specialized Databases showing KIAA1468 gene (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
Name Description
PharmGKB entry for KIAA1468 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for KIAA1468 gene: Search GeneIP for patents involving KIAA1468 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor KIAA1468 gene (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 and Sirion Biotech , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript , LifeMap BioReagents , and Sirion Biotech , 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 , Animal models from inGenious Targeting Laboratory )About This Section
Browse OriGene Antibodies OriGene shRNA RFP for KIAA1468 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for KIAA1468 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for KIAA1468 OriGene Protein Over-expression Lysate for KIAA1468 Browse OriGene Fluorogenic Cell Assay Kits Browse OriGene siRNAs OriGene 3'-UTR Clone for KIAA1468 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for KIAA1468 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for KIAA1468 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for KIAA1468 OriGene Custom Protein Services for KIAA1468 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat KIAA1468 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing KIAA1468 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat KIAA1468 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat KIAA1468 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat KIAA1468 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat KIAA1468
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA1468
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Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat KIAA1468
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