SLC30A8 Gene
protein-coding GIFtS: 54
GCID: GC08P117963
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|
solute carrier family 30 (zinc transporter), member 8
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Aliases for SLC30A8 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Solute Carrier Family 30 (Zinc Transporter), Member 81 2 | | ZNT82 3 5 | | ZnT-82 3 | | Zinc Transporter 82 | | Zinc Transporter ZnT-82 | | Solute Carrier Family 30 Member 83 |
Export aliases for SLC30A8 gene to outside databasesPrevious GC identifers: GC08P118024 GC08P117632 GC08P118104 GC08P118032 GC08P118216 GC08P113288 |
Summaries for SLC30A8 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 SLC30A8: The protein encoded by this gene is a zinc efflux transporter involved in the accumulation of zinc in intracellularvesicles. This gene is expressed at a high level only in the pancreas, particularly in islets of Langerhans. Theencoded protein colocalizes with insulin in the secretory pathway granules of the insulin-secreting INS-1 cells.Allelic variants of this gene exist that confer susceptibility to diabetes mellitus, noninsulin-dependent (NIDDM).Several transcript variants encoding different isoforms have been found for this gene.(provided by RefSeq, Mar 2010) UniProtKB/Swiss-Prot: ZNT8_HUMAN, Q8IWU4Function: Facilitates the accumulation of zinc from the cytoplasm into intracellular vesicles, being a zinc-effluxtransporter. May be a major component for providing zinc to insulin maturation and/or storage processes ininsulin-secreting pancreatic beta-cells Gene Wiki entry for SLC30A8
|
Genomic Views for SLC30A8 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_000008.10 NC_018919.1 NT_008046.16
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the SLC30A8 gene promoter: AP-4 CUTL1 Tal-1beta PPAR-gamma1 POU2F1 FOXO4 POU2F1b POU2F1a POU2F1c PPAR-gamma2 Other transcription factors
Search SABiosciences Chromatin IP Primers for SLC30A8
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC30A8 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 8q24.11 Ensembl cytogenetic band: 8q24.11 HGNC cytogenetic band: 8q24.11SLC30A8 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 8 GeneLoc Exon Structure GeneLoc location for GC08P117963: view genomic region
(about GC identifiers)
Start:
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117,962,512 bp from pter |
End:
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118,188,953 bp from pter |
Size:
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226,442 bases |
Orientation:
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plus strand |
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Proteins for SLC30A8 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: ZNT8_HUMAN, Q8IWU4 (See
protein sequence)Recommended Name: Zinc transporter 8 Size: 369 amino acids; 40755 Da
Subunit: Homodimer (By similarity)
Subcellular location: Cell membrane; Multi-pass membrane protein (Probable). Cytoplasmic vesicle, secretory vesiclemembrane; Multi-pass membrane protein (Probable). Note=Associated with insulin and glucagon secretory granules (Bysimilarity)
Secondary accessions: A0AVP9 A5YM39 B4DPE0 Q8TCL3Alternative splicing: 2 isoforms: Q8IWU4-1 Q8IWU4-2 Explore the universe of human proteins at neXtProt for SLC30A8: NX_Q8IWU4
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8IWU4 SLC30A8 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (5 alternative transcripts):
NP_001166282.1 NP_001166284.1 NP_001166285.1 NP_001166286.1 NP_776250.2 ENSEMBL proteins: ENSP00000428545 ENSP00000427760 ENSP00000431069 ENSP00000415011 ENSP00000407505 Reactome Protein details: Q8IWU4 Human Recombinant Protein Products:
Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table
SLC30A8 for ontologies About GeneDecksing
SLC30A8 Antibody Products: Assay Products for SLC30A8: |
Protein
Domains / Families for SLC30A8 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SLC30A8 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q8IWU4ProtoNet protein and cluster: Q8IWU4 1 Blocks protein family: IPB002524 Cation efflux protein
UniProtKB/Swiss-Prot: ZNT8_HUMAN, Q8IWU4Domain: Contains a histidine-rich region, HXXXXXHNH-motif, which is a ligand for zinc (By similarity)Similarity: Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily |
Function for SLC30A8 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: ZNT8_HUMAN, Q8IWU4Function: Facilitates the accumulation of zinc from the cytoplasm into intracellular vesicles, being a zinc-effluxtransporter. May be a major component for providing zinc to insulin maturation and/or storage processes ininsulin-secreting pancreatic beta-cells
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 SLC30A8 (see all 7) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC30A8 (see all 5) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC30A8 |
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table
SLC30A8 for ontologies About GeneDecksing
Animal Models: Mouse knock-out Slc30a8tm1.1Geno for SLC30A8 6 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Slc30a8):
SLC30A8 for phenotypes About GeneDecksing
|
Pathways & Interactions for SLC30A8 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 | SLC-mediated transmembrane transport | | | 2 | Zinc transporters | |
Pathway sources See GeneCards unified pathways Show all pathways
5/6
Reactome Pathways for SLC30A8 (see all 6)
SLC30A8 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC30A8
Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13): About this table
SLC30A8 for ontologies About GeneDecksing
|
Drugs & Compounds for SLC30A8 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
|
SLC30A8 for compounds About GeneDecksing
Browse Tocris compounds for SLC30A8 1 Novoseek chemical compound relationship for SLC30A8 gene About this table
Search CenterWatch for drugs/clinical trials and news about SLC30A8 / ZNT8 
|
Transcripts for SLC30A8 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 SLC30A8 gene (5 alternative transcripts): NM_001172811.1 NM_001172813.1 NM_001172814.1 NM_001172815.1 NM_173851.2 Unigene Cluster for SLC30A8: Solute carrier family 30 (zinc transporter), member 8 Hs.532270 [show with all ESTs]Unigene Representative Sequence: NM_0011728139 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000521243 ENST00000524274 ENST00000521035 ENST00000518521 ENST00000518396 ENST00000520469 ENST00000519688 ENST00000456015 ENST00000427715(uc010mcz.3 uc003yog.3 uc011lia.2 uc022bab.1 uc003yoh.3)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC30A8 (see all 7) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC30A8 (see all 5) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 5): SLC30A8 (NM_173851) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SLC30A8 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC30A8  |
Additional cDNA sequence: AK298294.1 AL713790.1 AY117411.1 BC015845.1 BC126446.1 BC143953.1 EF560713.1 4 DOTS entries: DT.100813904 DT.95232711 DT.100813905 DT.121491322 24/134 AceView cDNA sequences (see all 134): BQ631692 CA773656 CB069988 BQ549148 BM875276 BQ549629 BU071744 BU948090 BQ127891 CB178021 BQ548988 CA773426 AI624342 BM875526 BU074261 BU949577 CA952713 BM512481 BM507349 CB068938 CA867469 BU947651 BM272538 CA771127 GeneLoc Exon Structure
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Expression for SLC30A8 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
| SLC30A8 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: TGTGGGCACA
About this image See SLC30A8 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for SLC30A8
SOURCE GeneReport for Unigene cluster: Hs.532270 UniProtKB/Swiss-Prot: ZNT8_HUMAN, Q8IWU4Tissue specificity: In the endocrine pancreas, expressed in insulin-producing beta cells. Expressed at relatively highlevels in subcutaneous fat tissue from lean persons; much lower levels in visceral fat, whether from lean or obeseindividuals, and in subcutaneous fat tissue from obese individuals. Expressed in peripheral blood mononuclear cells,including T-cells and B-cells, with great variation among individuals ranging from negative to strongly positive SABiosciences Custom PCR Arrays for SLC30A8
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SLC30A8 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SLC30A8 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC30A8 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SLC30A8 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC30A8 |
Orthologs for SLC30A8 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 last universal common ancestor (LUCA).
Orthologs for SLC30A8 gene from 9/25 species (see all 25) About this table
ENSEMBL Gene Tree for SLC30A8 (if available) TreeFam Gene Tree for SLC30A8 (if available)  |
Paralogs for SLC30A8 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for SLC30A8 gene
- SLC30A32 SLC30A22 SLC30A102 SLC30A12 SLC30A42
4 SIMAP similar genes for SLC30A8 using alignment to 2 protein entries: ZNT8_HUMAN (see all proteins):ZNT4 SLC30A3 SLC30A4 SLC30A2
SLC30A8 for paralogs About GeneDecksing
|
Genomic Variants for SLC30A8 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
| UniProtKB/Swiss-Prot: ZNT8_HUMAN, Q8IWU4Polymorphism: Variant Trp-325 is a risk factor that confers susceptibility to diabetes mellitus, noninsulin-dependent(NIDDM) [MIM:125853]
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 8 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for SLC30A8 (117962512 - 118188953 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 2 variations for SLC30A8 2 Indels: 59446 59447 Human Gene Mutation Database (HGMD): SLC30A8
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC30A8 |
|
Disorders
/ Diseases for SLC30A8 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SLC30A8 for disorders About GeneDecksing
OMIM gene information: 611145 OMIM disorders: 125853 17 diseases for SLC30A8: About MalaCardsdiabetes mellitus, noninsulin-dependent diabetes mellitus type 2 diabetes mellitus type 1 diabetes mellitus polycystic ovary syndrome arterial calcification coronary heart disease gestational diabetes insulin resistance insulinoma prostate cancer atherosclerosis obesity prostatitis pancreatitis malaria asthma 1 disease from the University of Copenhagen DISEASES database for SLC30A8:Diabetes mellitus 1 Novoseek disease relationship for SLC30A8 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| autoimmunity |
46.8 |
2 |
19590848 (1), 19120306 (1) |
Human Genome Epidemiology (HuGE) Navigator: SLC30A8 (112 documents) Export disorders for SLC30A8 gene to outside databases
|
Publications for SLC30A8 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 SLC30A8 gene, integrated from 9 sources (see all 163): (articles sorted by number of sources associating them with SLC30A8) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Identification and cloning of a beta-cell-specific zinc transporter, ZnT-8, localized into insulin secretory granules. (PubMed id 15331542)1, 2, 9 Chimienti F.... Seve M. (2004)
- ZnT-8, a pancreatic beta-cell-specific zinc transporter. (PubMed id 16158222)1, 2, 9 Chimienti F.... Seve M. (2005)
- In vivo expression and functional characterization of the zinc transporter ZnT8 in glucose-induced insulin secretion. (PubMed id 16984975)1, 2, 9 Chimienti F....Seve M. (2006)
- Intracellular zinc homeostasis in leukocyte subsets is regulated by different expression of zinc exporters ZnT-1 to ZnT-9. (PubMed id 17971500)1, 2 Overbeck S.... Rink L. (2008)
- A genome-wide association study identifies novel risk loci for type 2 diabetes. (PubMed id 17293876)1, 2 Sladek R....Froguel P. (2007)
- 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)
- Association between anti-ZnT8 autoantibody specificities and SLC30A8 Arg325Trp variant in Japanese patients with type 1 diabetes. (PubMed id 18850084)1, 9 Kawasaki E....Eguchi K. (2008)
- Zn(2+)-transporter-8: a dual role in diabetes. (PubMed id 19655390)1, 9 Chistiakov D.A. and Voronova N.V. (2009)
- Autoantibodies to zinc transporter 8 and SLC30A8 geno type stratify type 1 diabetes risk. (PubMed id 19590848)1, 9 Achenbach P....Ziegler A.G. (2009)
- Identification of a major humoral epitope in Slc30A8 (ZnT8). (PubMed id 19120306)1, 9 Wenzlau J.M....Davidson H.W. (2008)
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External Searches for SLC30A8 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing SLC30A8 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SLC30A8 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SLC30A8 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 SLC30A8 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for SLC30A8 gene: Search GeneIP for patents involving SLC30A8
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for SLC30A8 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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