AK8 Gene
protein-coding GIFtS : 45
GCID: GC09 M135601
adenylate kinase 8 (Previous name: chromosome 9 open reading frame 98 ) (Previous symbol: C9orf98 )
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Aliasesfor AK8 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 Adenylate Kinase 8 1 2 DDX312 C9orf981 2 3 RP11-143F18.12 FLJ327041 Putative Adenylate Kinase-Like Protein C9orf982 Chromosome 9 Open Reading Frame 981 EC 2.7.4.33
Export aliases for AK8 gene to outside databases
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Summariesfor AK8 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section UniProtKB/Swiss-Prot: KAD8_HUMAN, Q96MA6 Function : Adenylate kinase. Has highest activity toward AMP, and weaker activity toward dAMP, CMP and dCMP
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Genomic Viewsfor AK8 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_000009.11 NC_018920.1 NT_035014.4 Regulatory elements: Search SABiosciences Regulatory transcription factor binding sites for AK8 Other transcription factors Search SABiosciences Chromatin IP Primers for AK8 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat AK8
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 9q34.13 Ensembl cytogenetic band: 9q34.13 HGNC cytogenetic band: 9q34.13 AK8 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 9 GeneLoc Exon Structure
GeneLoc location for GC09M135601: view genomic region
(about GC identifiers )
Start:
135,600,965 bp from pter
End:
135,754,198 bp from pter
Size:
153,234 bases
Orientation:
minus strand
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Proteinsfor AK8 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: KAD8_HUMAN, Q96MA6 (See
protein sequence )Recommended Name: Adenylate kinase 8 Size : 479 amino acids; 54926 Da
Subcellular location : Cytoplasm, cytosol
Secondary accessions : A8K821 Q8N9W9Alternative splicing : 2 isoforms : Q96MA6-1 Q96MA6-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for AK8: NX_Q96MA6 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q96MA6 AK8 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_689785.1 ENSEMBL proteins: ENSP00000298545 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:0005829 cytosol
IEA --
AK8 for ontologies About GeneDecksing AK8 Antibody Products: Assay Products for AK8:
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Protein
Domains / Familiesfor AK8 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
AK8 for domains About GeneDecksing 3 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q96MA6 ProtoNet protein and cluster: Q96MA6
1 Blocks protein family : IPB000850 Adenylate kinase UniProtKB/Swiss-Prot: KAD8_HUMAN, Q96MA6 Similarity : Belongs to the adenylate kinase family
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Functionfor AK8 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
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: KAD8_HUMAN, Q96MA6 Function : Adenylate kinase. Has highest activity toward AMP, and weaker activity toward dAMP, CMP and dCMPCatalytic activity : ATP + AMP = 2 ADPBiophysicochemical properties : Kinetic parameters: KM=4.1 uM for AMP; KM=630 uM for dAMP; KM=1.4 uM for CMP; Vmax=2400pmol/min/ug enzyme with AMP as substrate; Vmax=1360 pmol/min/ug enzyme with dAMP as substrate; Vmax=190 pmol/min/ug enzyme with CMP as substrate; Enzyme Number (IUBMB): EC 2.7.4.3 1
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 AK8 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for AK8OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: AK8 (NM_152572 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AK8 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat AK8
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AK8
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0004017 adenylate kinase activity
IDA -- GO:0004127 cytidylate kinase activity
IDA -- GO:0005524 ATP binding
IEA --
AK8 for ontologies About GeneDecksing 3 GenomeRNAi human phenotypes for AK8 :Animal Models: 5 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Ak8) :
AK8 for phenotypes About GeneDecksing
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Pathways & Interactionsfor AK8 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 AK8 Gene Ontology (GO): 1 biological process term (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0021591 ventricular system development
IEA --
AK8 for ontologies About GeneDecksing
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Drugs & Compoundsfor AK8 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 AK8 1 DrugBank Compound for AK8 About this table Search CenterWatch for drugs/clinical trials and news about AK8 / KAD8
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Transcriptsfor AK8 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 AK8 gene: NM_152572.2 Unigene Cluster for AK8:
Adenylate kinase 8 Hs.421340 [show with all ESTs ] Unigene Representative Sequence: BC037402 5 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000298545 (uc004cbu.1 ) ENST00000477396 (uc010mzx.1 ) ENST00000476719 (uc004cbv.1 )ENST00000467161 ENST00000482422 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for AK8 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for AK8OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: AK8 (NM_152572 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AK8 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat AK8
Additional cDNA sequence: AK057266.1 AK093446.1 AK292186.1 BC034776.1 BC037402.1 BC050576.1
10 DOTS entries : DT.203791 DT.100019553
DT.100748848 DT.101981125 DT.97804340 DT.86848944 DT.100648345 DT.75118489 DT.95079216 DT.121161578 24/46 AceView cDNA sequences (see all 46 ):
AI368484 BM684476 AI362274 AX748132 BI828586 BM983192 AI359456 BC037402 BC050576 BX100680 AA580077 AX748058 AK057266 BC034776 NM_152572 BI767614 BX091015 CD515464 AK093446 BU617945 AK093333 BM926674 AL040402 AL040403 GeneLoc Exon Structure 5 Alternative Splicing Database (ASD) splice patterns (SP) for AK8 About this scheme ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 SP1 :       -   -                         -       SP2 :       -           -                 -       SP3 :                 -                       SP4 :                               -   -       SP5 :                                      
ECgene alternative splicing isoforms for AK8
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Expression for AK8 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 AK8 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GAGATCCAGG
About this image AK8 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 Name Category Posterior foregut-like cells (A scalable, suspensi... )Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
See AK8 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for AK8 SOURCE GeneReport for Unigene cluster: Hs.421340 SABiosciences Custom PCR Arrays for AK8 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for AK8Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat AK8 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat AK8 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat AK8 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AK8
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Orthologsfor AK8 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 AK8 gene from 8/24 species (see all 24 ) About this table
ENSEMBL Gene Tree for AK8 (if available)TreeFam Gene Tree for AK8 (if available)
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Paralogsfor AK8 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for AK8 gene AK3 2 AK4 2
AK8 for paralogs About GeneDecksing
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Genomic Variantsfor AK8 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 9 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for AK8 (135600965 - 135754198 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for AK8: --
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing AK8
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Disorders
/ Diseasesfor AK8 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
AK8 for disorders About GeneDecksing 1 disease for AK8 : About MalaCards adhd Export disorders for AK8 gene to outside databases
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Publicationsfor AK8 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 AK8 gene, integrated from 9 sources (see all 12 ): (articles sorted by number of sources associating them with AK8) Utopia : connect your pdf to the dynamic world of online information
The characterization of human adenylate kinases 7 and 8 demonstrates differences in kinetic parameters and structural organization a mong the family of adenylate kinase isoenzymes. (PubMed id 21080915) 1 , 2 , 3 Panayiotou C....Karlsson A. (2010) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 1 , 2 Ota T.... Sugano S. (2004) Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614) 1 Rose J.E....Uhl G.R. (2010) Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061) 1 Trynka G....Wijmenga C. (2009) Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. (PubMed id 18839057) 1 Lesch K.P....Jacob C. (2008) hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965) 1 Lamesch P.... Vidal M. (2007) Drugs, their targets and the nature and number of dru g targets. (PubMed id 17016423) 7 Imming P....Meyer A. (2006) How many drug targets are there? (PubMed id 17139284) 7 Overington J.P....Hopkins A.L. (2006) 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) DNA sequence and analysis of human chromosome 9. (PubMed id 15164053) 2 Humphray S.J.... Dunham I. (2004)
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External Searches for AK8 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing AK8 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 AK8 gene
(According to HUGE )
About This Section --
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Specialized Databases showing AK8 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 AK8 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for AK8 gene: Search GeneIP for patents involving AK8 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor AK8 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
OriGene Antibodies for AK8 OriGene shRNA RFP for AK8 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for AK8 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for AK8 OriGene Protein Over-expression Lysate for AK8 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for AK8 Browse 3'-UTR reporter clones for miRNA target validation OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for AK8 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for AK8 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 AK8 OriGene Custom Protein Services for AK8 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AK8 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing AK8 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat AK8 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat AK8 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat AK8 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat AK8
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AK8 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AK8
ThermoFisher Antibodies for AK8
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat AK8
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