AQP6 Gene
protein-coding GIFtS: 51
GCID: GC12P050417
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aquaporin 6, kidney specific
(Previous symbol: AQP2L)
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Aliases
for AQP6 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Aquaporin 6, Kidney Specific1 2 | | KID2 | | AQP2L1 2 3 5 | | Aquaporin 2-Like, Kidney Specific2 | | Kidney-Specific Aquaporin2 3 | | Aquaporin-61 | | AQP-62 3 | | Aquaporin-6, Kidney Specific2 | | HKID1 | | Aquaporin-2-Like1 |
Export aliases for AQP6 gene to outside databasesPrevious GC identifers: GC12P050655 GC12P050077 GC12P048647 GC12P047398 |
Summaries
for AQP6 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 AQP6:
The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are afamily of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein isspecific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome12q13. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: AQP6_HUMAN, Q13520Function: Forms a water-specific channel that participates in distinct physiological functions such as glomerularfiltration, tubular endocytosis and acid-base metabolism (By similarity)
|
Genomic Views
for AQP6 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 AQP6 gene promoter:
AML1a p53 SREBP-1c MyoD LCR-F1 SREBP-1b FOXL1 CP2 SREBP-1a Pax-4a
Other transcription factors
Search SABiosciences Chromatin IP Primers for AQP6
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AQP6 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12q13 Ensembl cytogenetic band: 12q13.12 HGNC cytogenetic band: 12q13AQP6 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 GC12P050417: view genomic region
(about GC identifiers)
Start:
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50,360,977 bp from pter |
End:
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50,370,922 bp from pter |
Size:
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9,946 bases |
Orientation:
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plus strand |
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Proteins
for AQP6 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: AQP6_HUMAN, Q13520 (See
protein sequence)Recommended Name: Aquaporin-6 Size: 282 amino acids; 29370 Da
Subcellular location: Cytoplasmic vesicle membrane; Multi-pass membrane protein (By similarity)
1 PDB 3D structure from  and Proteopedia  for AQP6:1S6E (3D)
Explore the universe of human proteins at neXtProt for AQP6: NX_Q13520
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q13520
AQP6 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001643.2
ENSEMBL proteins: ENSP00000449830 ENSP00000320247 Reactome Protein details: Q13520
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
AQP6 for ontologies About GeneDecksing
AQP6 Antibody Products:
Assay Products for AQP6: |
Protein
Domains /
Families
for AQP6 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
AQP6 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q13520ProtoNet protein and cluster: Q13520 1 Blocks protein family: IPB000425 MIP family
UniProtKB/Swiss-Prot: AQP6_HUMAN, Q13520Domain: Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loopwith the signature motif Asn-Pro-Ala (NPA)Similarity: Belongs to the MIP/aquaporin (TC 1.A.8) family |
Function
for AQP6 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: AQP6_HUMAN, Q13520Function: Forms a water-specific channel that participates in distinct physiological functions such as glomerularfiltration, tubular endocytosis and acid-base metabolism (By similarity) Genatlas biochemistry entry for AQP6:aquaporin 2-like,water channel forming integral protein,exclusively localized in intracellular membranes in renalepithelial,located in intracellular membrane vesicles in glomeruli,in subapical compartment of segments 2 and 3 cellsand in collecting ducts,potentially involved in glomerular filtration,tubular endocytosis and acid-base metabolism
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AQP6
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AQP6 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
AQP6 for ontologies About GeneDecksing
|
Pathways & Interactions
for AQP6 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
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Passive Transport by Aquaporins | | | 2 | Regulation of Water Balance by Renal Aquaporins | | | 3 | SLC-mediated transmembrane transport | | | 4 | Nanog in Mammalian ESC Pluripotency | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for AQP6
3 
Reactome Pathways for AQP6
AQP6 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AQP6
Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table
AQP6 for ontologies About GeneDecksing
|
Drugs & Compounds
for AQP6 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
|
AQP6 for compounds About GeneDecksing
 Browse Tocris compounds for AQP6
1 Novoseek chemical compound relationship for AQP6 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| glycerol |
43.9 |
1 |
17044001 (1) |
Search CenterWatch for drugs/clinical trials and news about AQP6
|
Transcripts
for AQP6 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 AQP6 gene (2 alternative transcripts): NM_001652.3 NM_053286.1 Unigene Cluster for AQP6: Aquaporin 6, kidney specific Hs.54505 [show with all ESTs]Unigene Representative Sequence: NM_0016523 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000489786(uc001rvp.1 uc001rvq.1 uc001rvr.1) ENST00000551733
ENST00000315520
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AQP6 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AQP6
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: AQP6 (NM_001652) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AQP6 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AQP6 |
Additional cDNA sequence: BC065275.1 U48408.1 3 DOTS entries: DT.404461 DT.99942987 DT.75106831 7 AceView cDNA sequences: BC065275 NM_053286 AL137716 BU194843 NM_001652 AA872916 U48408
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for AQP6 About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b |
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| SP1: | | | | | - | | | | - | | | | | | | | | | |
| SP2: | | | | | | | - | | - | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for AQP6
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Expression
for AQP6 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
| AQP6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACCTGGGTCA
About this image
See AQP6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AQP6
SOURCE GeneReport for Unigene cluster: Hs.54505
SABiosciences Custom PCR Arrays for AQP6
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AQP6
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AQP6 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AQP6 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AQP6 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AQP6 |
Orthologs
for AQP6 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 eukaryotes.
Orthologs for AQP6 gene from 4/17 species (see all 17) About this table
ENSEMBL Gene Tree for AQP6 (if available)
TreeFam Gene Tree for AQP6 (if available) |
Paralogs
for AQP6 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for AQP6 gene
- ENSG000002504242 AQP22 AQP82 MIP2 AQP52 AQP12 AQP42
7 SIMAP similar genes for AQP6 using alignment to 2 protein entries: AQP6_HUMAN (see all proteins):DKFZp434D2030 AQP5 AQP4 AQP2 MIP AQP1
AQP8
AQP6 for paralogs About GeneDecksing
|
Genomic Variants
for AQP6 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 |
|---|
HapMap Linkage Disequilibrium report for AQP6 (50360977 - 50370922 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for AQP6: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AQP6 |
|
Disorders
/ Diseases
for AQP6 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
|
AQP6 for disorders About GeneDecksing
OMIM gene information: 601383
OMIM disorders: --
10  diseases for AQP6: About MalaCardsnephrogenic diabetes insipidus diabetes insipidus renal oncocytoma meniere's disease
menieres disease neuroma conjunctivitis pharyngitis
pneumonia neuronitis
3 diseases from the University of Copenhagen DISEASES database for AQP6:Nephrogenic diabetes insipidus Diabetes insipidus Meniere's disease Export disorders for AQP6 gene to outside databases
|
Publications
for AQP6 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 AQP6 gene, integrated from 9 sources (see all 19):
(articles sorted by number of sources associating them with AQP6) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- cDNA cloning and gene structure of a novel water channel expressed exclusively in human kidney: evidence for a gene cluster of aquaporins at chromosome locus 12q13. (PubMed id 8812490)1, 2, 3, 9 Ma T.... Verkman A.S. (1996)
- Characterization of aquaporin-6 as a nitrate channel in mammalian cells. Requirement of pore-lining residue threonine 63. (PubMed id 12177001)1, 9 Ikeda M....Yasui M. (2002)
- Closely spaced tandem arrangement of AQP2, AQP5, and AQP6 genes in a 27-kilobase segment at chromosome locus 12q13. (PubMed id 9268644)1, 9 Ma T....Verkman A.S. (1997)
- Immunohistochemical localization and mRNA expression of aquaporins in the macula utriculi of patients with Meniere's disease and aco ustic neuroma. (PubMed id 20461409)1 Ishiyama G....Ishiyama A. (2010)
- Gene expression profiling of chromophobe renal cell c arcinomas and renal oncocytomas by Affymetrix GeneChip using pooled and individ ual tumours. (PubMed id 19680475)1 Yusenko M.V....Kovacs G. (2009)
- The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (2006)
- Aquaporin expression in developing human teeth and selected orofacial tissues. (PubMed id 12522663)1 Wang W....Hart T.C. (2003)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
- Conversion of aquaporin 6 from an anion channel to a water-selective channel by a single amino acid substitution. (PubMed id 15671159)9 Liu K....Yasui M. (2005)
- pH regulated anion permeability of aquaporin-6. (PubMed id 19096784)9 Yasui M. (2009)
|
External Searches for AQP6 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing AQP6 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing AQP6 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing AQP6 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 AQP6 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for AQP6 gene:
Search GeneIP for patents involving AQP6
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for AQP6 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
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for AQP6 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AQP6 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AQP6 | | | OriGene Protein Over-expression Lysate for AQP6 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for AQP6 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AQP6 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AQP6 | | | 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 AQP6 | | OriGene Custom Protein Services for AQP6 | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AQP6 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AQP6 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AQP6 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AQP6 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AQP6 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AQP6 |
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| |  |  |  |  | | | | |
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 |
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 | | | AQP6 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AQP6 |
|  |  |  | | | | Search ThermoFisher Antibodies for AQP6 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AQP6 |
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