BBS10 Gene
protein-coding GIFtS: 51
GCID: GC12M076738
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Bardet-Biedl syndrome 10(Previous name: chromosome 12 open reading frame 58 ) (Previous symbol: C12orf58)
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Aliases for BBS10 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Bardet-Biedl Syndrome 101 2 | | C12orf581 2 3 5 | | FLJ235601 5 | | Chromosome 12 Open Reading Frame 581 | | Bardet-Biedl Syndrome 10 Protein2 |
Export aliases for BBS10 gene to outside databasesPrevious GC identifers: GC12M075262 GC12M073790 |
Summaries for BBS10 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for BBS10: This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessivedisorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and mentalretardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypesexhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function.Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteinsmay also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this geneis likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecularchaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition ofthis protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrometype 10. (provided by RefSeq, Jan 2010) UniProtKB/Swiss-Prot: BBS10_HUMAN, Q8TAM1Function: Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCTcomplex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesiclesto the cilia. Involved in adipogenic differentiation Gene Wiki entry for BBS10
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Genomic Views for BBS10 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_000012.11 NC_018923.1 NT_029419.12
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the BBS10 gene promoter: Nkx2-2 GCNF Nkx2-5 AP-2gamma C/EBPalpha MEF-2A POU2F1a GCNF-1 aMEF-2 GCNF-2 Other transcription factors
Search SABiosciences Chromatin IP Primers for BBS10
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BBS10 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12q21.2 Ensembl cytogenetic band: 12q21.2 HGNC cytogenetic band: 12q21.2BBS10 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12M076738: view genomic region
(about GC identifiers)
Start:
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76,738,254 bp from pter |
End:
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76,742,222 bp from pter |
Size:
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3,969 bases |
Orientation:
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minus strand |
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Proteins for BBS10 gene
(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: BBS10_HUMAN, Q8TAM1 (See
protein sequence)Recommended Name: Bardet-Biedl syndrome 10 protein Size: 723 amino acids; 80838 Da
Subunit: Component of the BBS/CCT complex composed at least of MKKS, BBS10, BBS12, TCP1, CCT2, CCT3, CCT4, CCT5 ANDCCT8
Subcellular location: Cell projection, cilium. Note=Located within the basal body of the primary cilium ofdifferentiating preadipocytes
Miscellaneous: Adipocytes derived from BBS-patients' dermal fibroblasts in culture exhibit higher propensity for fataccumulation when compared to controls. This strongly suggests that a peripheral primary dysfunction of adipogenesisparticipates to the pathogenesis of obesity in BBS
Sequence caution: Sequence=AAH13795.1; Type=Erroneous initiation; Sequence=BAB15695.1; Type=Erroneous initiation;
Secondary accessions: Q96CW2 Q9H5D2Explore the universe of human proteins at neXtProt for BBS10: NX_Q8TAM1
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8TAM1 BBS10 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_078961.3 ENSEMBL proteins: ENSP00000376946 ENSP00000447245 Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005929 | cilium |
IEA | -- |
BBS10 for ontologies About GeneDecksing
BBS10 Antibody Products: Assay Products for BBS10: |
Protein
Domains / Families for BBS10 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
BBS10 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q8TAM1ProtoNet protein and cluster: Q8TAM1 UniProtKB/Swiss-Prot: BBS10_HUMAN, Q8TAM1Similarity: Belongs to the TCP-1 chaperonin family |
Function for BBS10 gene
(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: BBS10_HUMAN, Q8TAM1Function: Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCTcomplex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesiclesto the cilia. Involved in adipogenic differentiation
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 BBS10 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BBS10 (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: BBS10 (NM_024685) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BBS10 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BBS10  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBS10 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
BBS10 for ontologies About GeneDecksing
|
Pathways & Interactions for BBS10 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 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 BBS10
STRING Interaction
Network Preview (showing 5 interactants - click image to see 11)
 5/20 Interacting proteins for BBS10 (Q8TAM11, 2, 3 ENSP000003769464) via UniProtKB, MINT, STRING, and/or I2D (see all 20)About this table
Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table
BBS10 for ontologies About GeneDecksing
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Drugs & Compounds for BBS10 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 BBS10 Search CenterWatch for drugs/clinical trials and news about BBS10 
|
Transcripts for BBS10 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,
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 BBS10 gene: NM_024685.3 Unigene Cluster for BBS10: Bardet-Biedl syndrome 10 Hs.96322 [show with all ESTs]Unigene Representative Sequence: NM_0246852 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000393262(uc001syd.1) ENST00000547830
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BBS10 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BBS10 (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: BBS10 (NM_024685) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BBS10 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BBS10  |
Additional cDNA sequence: AK027213.1 AK225585.1 AK304178.1 BC026355.1 3 DOTS entries: DT.409971 DT.91906473 DT.95120172 24/58 AceView cDNA sequences (see all 58): AI673014 BM453668 AW963976 BM543326 BC013795 BM904438 BI756814 N51560 AI559305 AI357206 BF968805 AK027213 BM714502 BI462570 BX485194 AW449124 AA621536 BU178958 CB267432 CA430896 BU166359 BX641893 AW001748 BG701297 GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for BBS10 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | |
| SP1: | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for BBS10
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Expression for BBS10 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
| BBS10 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: TATTTACTGG
About this image See BBS10 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for BBS10
SOURCE GeneReport for Unigene cluster: Hs.96322 SABiosciences Custom PCR Arrays for BBS10
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BBS10 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat BBS10 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BBS10 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BBS10 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBS10 |
Orthologs for BBS10 gene
(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 chordates.
Orthologs for BBS10 gene from 4/11 species (see all 11) About this table
ENSEMBL Gene Tree for BBS10 (if available) TreeFam Gene Tree for BBS10 (if available)  |
Paralogs for BBS10 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| -- |
Genomic Variants for BBS10 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 12 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
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HapMap Linkage Disequilibrium report for BBS10 (76738254 - 76742222 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for BBS10: -- Human Gene Mutation Database (HGMD): BBS10
Locus Specific Mutation Databases (LSDB): BBS10
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BBS10 |
|
Disorders
/ Diseases for BBS10 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
|
BBS10 for disorders About GeneDecksing
OMIM gene information: 610148 OMIM disorders: 209900 UniProtKB/Swiss-Prot: BBS10_HUMAN, Q8TAM1
Defects in BBS10 are the cause of Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]. Bardet-Biedl syndrome(BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentaryretinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation 10 diseases for BBS10: About MalaCardsbardet-biedl syndrome bardet-biedl syndrome 10 bardet-biedl syndrome 12 polydactyly obesity retinitis retinal degeneration pigmentary retinopathy fundus dystrophy retinal disease 1 disease from the University of Copenhagen DISEASES database for BBS10:Polydactyly GeneTests: BBS10 Bardet-Biedl Syndrome Human Genome Epidemiology (HuGE) Navigator: BBS10 (2 documents) Export disorders for BBS10 gene to outside databases
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Publications for BBS10 gene (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 BBS10 gene, integrated from 9 sources (see all 23): (articles sorted by number of sources associating them with BBS10) | |  | Utopia: connect your pdf to the dynamic world of online information |
- BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. (PubMed id 16582908)1, 2, 3 Stoetzel C.... Dollfus H. (2006)
- Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. (PubMed id 19190184)1, 2 Marion V.... Dollfus H. (2009)
- 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)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. (PubMed id 21344540)2 Deveault C....Heon E. (2011)
- A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Chaperonin genes on the rise: new divergent classes a nd intense duplication in human and other vertebrate genomes. (PubMed id 20193073)1 Mukherjee K....Brocchieri L. (2010)
- Mutations in chaperonin-like BBS genes are a major co ntributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. (PubMed id 20472660)1 Billingsley G....HAcon E. (2010)
- BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. (PubMed id 20080638)2 Seo S....Sheffield V.C. (2010)
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External Searches for BBS10 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing BBS10 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing BBS10 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing BBS10 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 BBS10 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BBS10 |
|
| | |
About This Section
| Patent Information for BBS10 gene: Search GeneIP for patents involving BBS10
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for BBS10 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, 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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 | |
 | |
 |
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variant library, vector shuttling | | OriGene Custom Antibody Services for BBS10 | | OriGene Custom Protein Services for BBS10 | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat BBS10 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BBS10 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BBS10 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BBS10 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BBS10 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BBS10 |
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 | | BBS10 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBS10 |
|  |  |  | | | ThermoFisher Antibodies for BBS10 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BBS10 |
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