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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SNX18 Gene

protein-coding   GIFtS: 49
GCID: GC05P053850

sorting nexin 18

(Previous name: sorting nexin associated golgi protein 1 )
(Previous symbol: SNAG1)
  Search for SNX18
in our new
 Human Malady Compendium 
Biological research products
for SNX18
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Sorting Nexin 181 2     Sorting Nexin Associated Golgi Protein 11 2
SH3PXD3B1 2 3     Sorting Nexin-Associated Golgi Protein 12 3
SNAG11 2 3     SH3 And PX Domain-Containing Protein 3B2 3
SH3PX21 2     Sorting Nexin-182

External Ids:    HGNC: 192451   Entrez Gene: 1125742   Ensembl: ENSG000001789967   UniProtKB: Q96RF03   

Export aliases for SNX18 gene to outside databases

Previous GC identifer: GC05P050787


(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 SNX18:
This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a
phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled
coil region, like some family members, but contains a SH3 domain. Multiple transcript variants encoding different
isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: SNX18_HUMAN, Q96RF0
Function: May be involved in several stages of intracellular trafficking. Plays a role in endocytosis via
clathrin-coated pits, but also clathrin-independent, actin-dependent fluid-phase endocytosis. Plays a role in
macropinocytosis. Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate and promotes membrane
tubulation. Stimulates the GTPase activity of DNM2. Promotes DNM2 location at the plasma membrane

Gene Wiki entry for SNX18 (SNAG1)


(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_000005.9  NC_018916.1  NT_006713.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SNX18 gene promoter:
         Max1   NF-E2 p45   NF-E2   c-Myc   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSNX18 promoter sequence
   Search SABiosciences Chromatin IP Primers for SNX18

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SNX18


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q11.2   Ensembl cytogenetic band:  5q11.2   HGNC cytogenetic band: 5q11.2

SNX18 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNX18 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P053850:  view genomic region     (about GC identifiers)

Start:
53,813,589 bp from pter      End:
53,842,416 bp from pter
Size:
28,828 bases      Orientation:
plus strand

(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: SNX18_HUMAN, Q96RF0 (See protein sequence)
Recommended Name: Sorting nexin-18  
Size: 628 amino acids; 68894 Da
Subunit: Heterodimer with SNX9. Interacts with ITCH. Interacts with dynamin, SYNJ1 and WASL. Interacts with the AP-1
complex
Subcellular location: Endomembrane system; Peripheral membrane protein; Cytoplasmic side. Endosome membrane; Peripheral
membrane protein; Cytoplasmic side. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=Localized at
sites of endocytosis at the cell membrane. Detected on newly formed macropinosomes. Partially colocalized with
clathrin and dynamin at the cell membrane. Transiently recruited to clathrin-coated pits at a late stage of
clathrin-coated vesicle formation
Secondary accessions: B4E2B3 H7BXX3 Q05BB3 Q0VG02
Alternative splicing: 3 isoforms:  Q96RF0-1   Q96RF0-2   Q96RF0-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SNX18: NX_Q96RF0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96RF0

  • SNX18 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001096045.1  NP_001138899.1  NP_443102.2  

    ENSEMBL proteins: 
     ENSP00000370817   ENSP00000342276   ENSP00000317332  

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    Uscn Proteins for SNX18

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010008endosome membrane IEA--
    GO:0012505endomembrane system IEA--
    GO:0030136colocalizes with clathrin-coated vesicle IDA--
    GO:0031234extrinsic to internal side of plasma membrane IDA--


    SNX18 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SNX18 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR011511 SH3_2
     IPR001683 Phox
     IPR014536 Snx9
     IPR001452 SH3_domain
     IPR019497 Sorting_nexin_WASP-bd-dom

    Graphical View of Domain Structure for InterPro Entry Q96RF0

    ProtoNet protein and cluster: Q96RF0

    1 Blocks protein family: IPB001683 Phox-like

    UniProtKB/Swiss-Prot: SNX18_HUMAN, Q96RF0
    Domain: The PX domain mediates interaction with membranes enriched in phosphatidylinositol 4,5-bisphosphate
    Similarity: Belongs to the sorting nexin family
    Similarity: Contains 1 BAR domain
    Similarity: Contains 1 PX (phox homology) domain
    Similarity: Contains 1 SH3 domain


    (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: SNX18_HUMAN, Q96RF0
    Function: May be involved in several stages of intracellular trafficking. Plays a role in endocytosis via
    clathrin-coated pits, but also clathrin-independent, actin-dependent fluid-phase endocytosis. Plays a role in
    macropinocytosis. Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate and promotes membrane
    tubulation. Stimulates the GTPase activity of DNM2. Promotes DNM2 location at the plasma membrane

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    hsa-miR-124* hsa-miR-3607-3p hsa-miR-200a hsa-miR-128 hsa-miR-30d hsa-miR-502-3p hsa-miR-1304 hsa-miR-30a
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0035091phosphatidylinositol binding IEA--


    SNX18 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SNX18:
     Increased G1 DNA content 


    (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 SNX18

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/7 Interacting proteins for SNX18 (Q96RF02, 3 ENSP000003173324) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITCHQ96J022, 3, ENSP000003639984MINT-7889719 I2D: score=2 STRING: ENSP00000363998
    SOS1Q078893, ENSP000003846754I2D: score=2 STRING: ENSP00000384675
    SOS2Q078903, ENSP000002163734I2D: score=2 STRING: ENSP00000216373
    FASLGP480233, ENSP000003566944I2D: score=1 STRING: ENSP00000356694
    KBTBD7Q8WVZ93I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006897endocytosis IDA--
    GO:0007154cell communication IEA--
    GO:0015031protein transport IEA--
    GO:0043547positive regulation of GTPase activity IDA--


    SNX18 for ontologies           About GeneDecksing



    (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 Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SNX18
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    (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,
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    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 SNX18 gene (3 alternative transcripts): 
    NM_001102575.1  NM_001145427.1  NM_052870.2  

    Unigene Cluster for SNX18:

    Sorting nexin 18
    Hs.432755  [show with all ESTs]
    Unigene Representative Sequence: NM_001145427
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000381410(uc003jpi.4) ENST00000343017(uc011cqg.2) ENST00000326277(uc003jpj.4)


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    hsa-miR-124* hsa-miR-3607-3p hsa-miR-200a hsa-miR-128 hsa-miR-30d hsa-miR-502-3p hsa-miR-1304 hsa-miR-30a
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    Additional cDNA sequence: 

    AF395536.1 AK022059.1 AK304195.1 BC060791.1 BC067860.1 BC117218.1 BC117220.1 

    5 DOTS entries:

    DT.311110  DT.97813204  DT.101960582  DT.40260251  DT.102827050 

    24/76 AceView cDNA sequences (see all 76):

    CB124515 BE351030 AA601509 BQ022586 BX472996 BM727909 BC067860 CB132834 
    AW386094 AA504492 BC060791 AI272193 BU742437 AI681573 CB143831 AA825651 
    AA668545 BF439089 AA865369 AA897576 BX107481 AA974856 AW386089 AK022059 

    GeneLoc Exon Structure


    (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

    SNX18 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTATCTTTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See SNX18 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SNX18

    SOURCE GeneReport for Unigene cluster: Hs.432755
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    In Situ
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    (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 animals.

    Orthologs for SNX18 gene from 7/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Snx181 , 5 sorting nexin 181, 5 90.46(n)1
    96.91(a)1
      13 (64.00 cM)5
    1706251  NM_130796.41  NP_570614.21 
     1135921805 
    chicken
    (Gallus gallus)
    Aves SNX181 sorting nexin 18 85.34(n)
    88.49(a)
      768969  XM_001231593.2  XP_001231594.1 
    lizard
    (Anolis carolinensis)
    Reptilia SNX186
    --
    69(a)
    1 ↔ 1
    2(2873316-2890287)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.32902 Transcribed sequence with moderate similarity to protein more 82.66(n)    141999017 
    zebrafish
    (Danio rerio)
    Actinopterygii snx18a1 sorting nexin 18a 70.67(n)
    76.68(a)
      562372  NM_001100006.1  NP_001093476.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta SH3PX11 CG6757-PA 51.14(n)
    38.31(a)
      39136  NM_140091.3  NP_648348.1 
    worm
    (Caenorhabditis elegans)
    Secernentea lst-41 Protein LST-4 48.37(n)
    38.68(a)
      178361  NM_070292.3  NP_502693.2 


    ENSEMBL Gene Tree for SNX18 (if available)
    TreeFam Gene Tree for SNX18 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SNX18 gene
    SNX92  SNX332  
    4 SIMAP similar genes for SNX18 using alignment to 1 protein entry:     SNX18_HUMAN:
    SH3GL1    SH3GL2    SNX33    SNX9

    SNX18 for paralogs           About GeneDecksing


    5/40 Pseudogenes.org Pseudogenes for SNX18 (see all 40)
    PGOHUM00000248291 PGOHUM00000248504 PGOHUM00000234874 PGOHUM00000235014 PGOHUM00000234545


    (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

    10/586 NCBI SNPs in SNX18 are shown (see all 586    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1380930221,2
    --53811647(+) GTTTT-/CCCTGC 3 -- us2k10--------
    rs1906061591,2
    --53811948(+) TAAACA/GAACAG 3 -- us2k10--------
    rs749335561,2
    C,--53811960(+) AGGGGC/TGAAAC 3 -- us2k13Minor allele frequency- T:0.19NA WA 240
    rs797043851,2
    C,--53812031(+) TAGAGG/ATTTAG 3 -- us2k12Minor allele frequency- A:0.05CSA WA 120
    rs357873641,2
    C,F,--53812076(+) TGTTGG/CCATTG 3 -- us2k17Minor allele frequency- C:0.21WA NA CSA EA 365
    rs126582531,2
    C,A,H,--53812093(+) AATGAG/TCCCTG 3 -- us2k110Minor allele frequency- T:0.13WA NA CSA EA 371
    rs1147958281,2
    F,--53812125(+) AAAACC/TCAGAA 3 -- us2k11Minor allele frequency- T:0.04WA 118
    rs1428647911,2
    --53812186(+) TTTTGC/TATTAG 3 -- us2k10--------
    rs1506493711,2
    --53812233(+) TTGTGA/TTTTTG 3 -- us2k10--------
    rs1831748991,2
    --53812261(+) ACCACA/GGCCCT 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for SNX18 (53813589 - 53842416 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for SNX18
         1 CNV: 47880
         1 Indel: 69064

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    (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
      --

    (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 SNX18 gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with SNX18)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SNX18 is an SNX9 paralog that acts as a membrane tubulator in AP-1-positive endosomal trafficking. (PubMed id 18411244)1, 2, 9 Haberg K....Carlsson S.R. (2008)
    2. A proteomic screen reveals novel Fas ligand interacti ng proteins within nervous system Schwann cells. (PubMed id 17761170)1, 3, 9 Thornhill P.B....Desbarats J. (2007)
    3. SNX18 shares a redundant role with SNX9 and modulates endocytic trafficking at the plasma membrane. (PubMed id 20427313)1, 2 Park J....Chang S. (2010)
    4. The E3 ubiquitin ligase Itch regulates sorting nexin 9 through an unconventional substrate recognition domain. (PubMed id 20491914)1, 2 Baumann C.... Levy F. (2010)
    5. The Phox (PX) domain proteins and membrane traffic. (PubMed id 16782399)1, 3 Seet L.F. and Hong W. (2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Genome-wide association study of antibody response to smallpox vaccine. (PubMed id 22542470)1 Ovsyannikova I.G....Poland G.A. (2012)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. Interaction between FIP5 and SNX18 regulates epitheli al lumen formation. (PubMed id 21969467)1 Willenborg C....Prekeris R. (2011)
    10. The SNX-PX-BAR family in macropinocytosis: the regulation of macropinosome formation by SNX-PX-BAR proteins. (PubMed id 21048941)2 Wang J.T....Teasdale R.D. (2010)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 112574 HGNC: 19245 AceView: SNAG1 Ensembl:ENSG00000178996 euGenes: HUgn112574
    ECgene: SNX18 H-InvDB: SNX18

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for SNX18 Pharmacogenomics, SNPs, Pathways

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    Patent Information for SNX18 gene:
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