SLC48A1 Gene
protein-coding GIFtS: 41
GCID: GC12P048147
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solute carrier family 48 (heme transporter), member 1
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Aliases
for SLC48A1 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 48 (Heme Transporter), Member 11 2 | | Solute Carrier Family 48 Member 12 3 | | HRG11 2 3 5 | | HRG-12 3 | | HHRG-11 | | FLJ204891 | | Heme-Responsive Gene 1 Protein Homolog2 3 | | Heme Transporter HRG12 |
Export aliases for SLC48A1 gene to outside databasesPrevious GC identifers: GC12P046454 GC12P048165 GC12P045198 |
Summaries
for SLC48A1 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: HRG1_HUMAN, Q6P1K1Function: Heme transporter that regulates intracellular heme availability through the endosomal or lysosomalcompartment
|
Genomic Views
for SLC48A1 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 SLC48A1 gene promoter:
Bach1 LHX3b/Lhx3b FOXF2 FosB Tal-1beta E47 YY1 LHX3a/Lhx3a ATF
Other transcription factors
Search SABiosciences Chromatin IP Primers for SLC48A1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC48A1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12q13.11 Ensembl cytogenetic band: 12q13.11 HGNC cytogenetic band: 12q13.11SLC48A1 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 GC12P048147: view genomic region
(about GC identifiers)
Start:
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48,147,699 bp from pter |
End:
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48,176,536 bp from pter |
Size:
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28,838 bases |
Orientation:
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plus strand |
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Proteins
for SLC48A1 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: HRG1_HUMAN, Q6P1K1 (See
protein sequence)Recommended Name: Heme transporter HRG1 Size: 146 amino acids; 16419 Da
Subcellular location: Endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAH26344.2; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=BAA91205.1;Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=EAW57951.1; Type=Erroneous gene model prediction;
Secondary accessions: Q9BUB3 Q9NX17Alternative splicing: 2 isoforms: Q6P1K1-1 Q6P1K1-2 Explore the universe of human proteins at neXtProt for SLC48A1: NX_Q6P1K1
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q6P1K1
SLC48A1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_060312.2
ENSEMBL proteins: ENSP00000450234 ENSP00000446739 ENSP00000446686 ENSP00000410134 ENSP00000415998 ENSP00000449036
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
SLC48A1 for ontologies About GeneDecksing
SLC48A1 Antibody Products:
Assay Products for SLC48A1: |
Protein
Domains /
Families
for SLC48A1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SLC48A1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q6P1K1ProtoNet protein and cluster: Q6P1K1 UniProtKB/Swiss-Prot: HRG1_HUMAN, Q6P1K1Similarity: Belongs to the HRG family |
Function
for SLC48A1 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: HRG1_HUMAN, Q6P1K1Function: Heme transporter that regulates intracellular heme availability through the endosomal or lysosomalcompartment
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 SLC48A1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC48A1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: SLC48A1 (NM_017842) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SLC48A1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC48A1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC48A1 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0015232 | heme transporter activity |
IEA | -- |
SLC48A1 for ontologies About GeneDecksing
Animal Models:
1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Slc48a1):
SLC48A1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for SLC48A1 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 SLC48A1
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
2 Interacting proteins for SLC48A1 (Q6P1K13 ENSP000004159984) via UniProtKB, MINT, STRING, and/or I2DAbout this table
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:0006810 | transport |
-- | -- |
SLC48A1 for ontologies About GeneDecksing
|
Drugs & Compounds
for SLC48A1 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 SLC48A1
1 HMDB Compound for SLC48A1 About this table
| Compound | Synonyms |
CAS
# | PubMed Ids |
|---|
| Heme | (protoporphyrinato)iron (see all 19) | 14875-96-8 | -- |
Search CenterWatch for drugs/clinical trials and news about SLC48A1 / HRG1
|
Transcripts
for SLC48A1 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 SLC48A1 gene: NM_017842.2 Unigene Cluster for SLC48A1: Solute carrier family 48 (heme transporter), member 1 Hs.438867 [show with all ESTs]Unigene Representative Sequence: NM_0178429 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000548498 ENST00000552003 ENST00000547002 ENST00000549243 ENST00000442892(uc001rqc.3)
ENST00000442218(uc001rqd.3) ENST00000551301 ENST00000461620 ENST00000476104
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC48A1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC48A1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: SLC48A1 (NM_017842) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SLC48A1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC48A1 |
Additional cDNA sequence: AK000496.1 AK025856.1 AK294075.1 BC002759.2 BC011823.2 BC026344.1 BC065033.1 17 DOTS entries: DT.113943 DT.91693077 DT.99944701 DT.121171817 DT.448891 DT.101942 DT.121171820 DT.101968383 DT.121171796 DT.100667606 DT.95214830 DT.100694392 DT.101963950 DT.121171906 DT.95246836 DT.100786380 DT.92046968 24/233 AceView cDNA sequences (see all 233): BU193023 BE379398 BM992255 AI365373 CA444321 BU737434 BU675157 BX366087 BF512115 CR618506 AI399636 BC011823 AW139764 BM799601 AW261833 BX387906 AA585107 AW449302 BE395531 BC002759 BU625226 AA931421 AI500379 N54625
GeneLoc Exon Structure
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Expression
for SLC48A1 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
| SLC48A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCCTCCAGC
About this image
See SLC48A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC48A1
SOURCE GeneReport for Unigene cluster: Hs.438867
UniProtKB/Swiss-Prot: HRG1_HUMAN, Q6P1K1Tissue specificity: Highly expressed in the brain, kidney, heart and skeletal muscle. Moderately expressed in theliver, lung, placenta and small intestine
SABiosciences Custom PCR Arrays for SLC48A1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SLC48A1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SLC48A1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC48A1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SLC48A1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC48A1 |
Orthologs
for SLC48A1 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 SLC48A1 gene from 5/12 species (see all 12) About this table
ENSEMBL Gene Tree for SLC48A1 (if available)
TreeFam Gene Tree for SLC48A1 (if available) |
Paralogs
for SLC48A1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for SLC48A1 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 SLC48A1 (48147699 - 48176536 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SLC48A1: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC48A1 |
|
Disorders
/ Diseases
for SLC48A1 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
|
 SLC48A1 for disorders About MalaCards
SLC48A1 for disorders About GeneDecksing
OMIM gene information: 612187
OMIM disorders: --
Human Genome Epidemiology (HuGE) Navigator: SLC48A1 (3 documents)
Export disorders for SLC48A1 gene to outside databases
|
Publications
for SLC48A1 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 SLC48A1 gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with SLC48A1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Haem homeostasis is regulated by the conserved and concerted functions of HRG-1 proteins. (PubMed id 18418376)1, 2, 3 Rajagopal A.... Hamza I. (2008)
- Topologically conserved residues direct heme transport in HRG-1-related proteins. (PubMed id 22174408)1 Yuan X....Hamza I. (2012)
- The BTB and CNC homology 1 (BACH1) target genes are i nvolved in the oxidative stress response and in control of the cell cycle. (PubMed id 21555518)1 Warnatz H.J....Yaspo M.L. (2011)
- Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
- Heme-binding protein HRG-1 is induced by insulin-like growth factor I and associates with the vacuolar H+-ATPase to control endosoma l pH and receptor trafficking. (PubMed id 19875448)1 O'Callaghan K.M....O'Connor R. (2010)
- Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
- Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
- Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
- 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)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
|
External Searches for SLC48A1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing SLC48A1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SLC48A1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SLC48A1 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 SLC48A1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for SLC48A1 gene:
Search GeneIP for patents involving SLC48A1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for SLC48A1 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 | | Browse OriGene shRNA RFPs | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SLC48A1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SLC48A1 | | | OriGene Protein Over-expression Lysate for SLC48A1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for SLC48A1 | | OriGene 3'-UTR Clone for SLC48A1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC48A1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC48A1 | | | 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 SLC48A1 | | OriGene Custom Protein Services for SLC48A1 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SLC48A1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC48A1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC48A1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SLC48A1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SLC48A1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC48A1 |
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| | | | Search Tocris compounds for SLC48A1 |
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 | | | SLC48A1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC48A1 |
|  |  |  | | | | Search ThermoFisher Antibodies for SLC48A1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC48A1 |
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