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

UMOD Gene

protein-coding   GIFtS: 59
GCID: GC16M020344

uromodulin

(Previous names: uromodulin (uromucoid, Tamm-Horsfall glycoprotein) )
 Explore 51 diseases affiliated with
UMOD via our new
 Human Malady Compendium 
Biological research products
for UMOD
    

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

Aliases
Uromodulin1     HNFJ12 5
Uromodulin (Uromucoid, Tamm-Horsfall Glycoprotein)1 2     MCKD22 5
Tamm-Horsfall Urinary Glycoprotein2 3     HNFJ2
THP2 3     THGP2
ADMCKD22 5     Tamm-Horsfall Glycoprotein2
FJHN2 5     Uromucoid1

External Ids:    HGNC: 125591   Entrez Gene: 73692   Ensembl: ENSG000001693447   OMIM: 1918455   UniProtKB: P079113   

Export aliases for UMOD gene to outside databases

Previous GC identifers: GC16P019829 GC16M019774 GC16M020271 GC16M020310 GC16M020251 GC16M018883


(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 UMOD:
This gene encodes uromodulin, the most abundant protein in normal urine. Its excretion in urine follows proteolytic
cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal
cell surface of the loop of Henle. Uromodulin may act as a constitutive inhibitor of calcium crystallization in renal
fluids. Excretion of uromodulin in urine may provide defense against urinary tract infections caused by uropathogenic
bacteria. Defects in this gene are associated with the autosomal dominant renal disorders medullary cystic kidney
disease-2 (MCKD2) and familial juvenile hyperuricemic nephropathy (FJHN). These disorders are characterized by
juvenile onset of hyperuricemia, gout, and progressive renal failure. While several transcript variants may exist for
this gene, the full-length natures of only two have been described to date. These two represent the major variants of
this gene and encode the same isoform. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: UROM_HUMAN, P07911
Function: Uromodulin: Functions in biogenesis and organization of the apical membrane of epithelial cells of the thick
ascending limb of Henle's loop (TALH), where it promotes formation of complex filamentous gel-like structure providing
the water barrier permeability. May serve as a receptor for binding and endocytosis for cytokines (IL-1, IL-2) and
TNF. Facilitates neutrophil migration across renal epithelial
Function: Uromodulin, secreted form: Secreted into urine after proteolytically cleaveage. Into the urine, may
contribute to colloid osmotic pressure, retards passage of positively charged electrolytes, prevents urinary tract
infection and modulates formation of supersaturated salts and their crystals

Gene Wiki entry for UMOD (Tamm-Horsfall protein)


(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_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UMOD gene promoter:
         AhR   Nkx3-1   Nkx3-1 v4   Brachyury   XBP-1   Nkx3-1 v1   Nkx3-1 v2   HFH-1   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUMOD promoter sequence
   Search SABiosciences Chromatin IP Primers for UMOD

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


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

Entrez Gene cytogenetic band: 16p12.3   Ensembl cytogenetic band:  16p12.3   HGNC cytogenetic band: 16p12.3

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M020344:  view genomic region     (about GC identifiers)

Start:
20,344,373 bp from pter      End:
20,367,623 bp from pter
Size:
23,251 bases      Orientation:
minus 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: UROM_HUMAN, P07911 (See protein sequence)
Recommended Name: Uromodulin precursor  
Size: 640 amino acids; 69761 Da
Subcellular location: Apical cell membrane; Lipid-anchor, GPI-anchor. Basolateral cell membrane; Lipid-anchor,
GPI-anchor. Cell projection, cilium membrane. Note=Only a small fraction is sort to the basolateral pole of tubular
epithelial cells compared to apical localization. Secreted into urine after cleavage. Colocalized with NPHP1 and KIF3A
Subcellular location: Uromodulin, secreted form: Secreted
Miscellaneous: A specific, but as yet unidentified, protease(s) cleaves off and releases UMOD into urine
Secondary accessions: B3KP48 B3KRN9 Q540J6 Q6ZS84 Q8IYG0
Alternative splicing: 4 isoforms:  P07911-1   P07911-2   P07911-3   P07911-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UMOD: NX_P07911

Post-translational modifications:

  • N-glycosylated. N-glycan heterogeneity at Asn-232: Hex7HexNAc6 (major) and dHex1Hex7HexNAc6 (minor); at Asn-322:
  • dHex1Hex6HexNAc5 (minor), dHex1Hex7HexNAc6 (major) and dHex1Hex8HexNAc7 (minor); at Asn-396: Hex6HexNAc5 (major),
    dHex1Hex6HexNAc5 (minor) and Hex7HexNAc6 (minor)1
  • Proteolytically cleaved at a conserved C-terminal proteolytic cleavage site to generate the secreted form found into
  • urine1
  • View neXtProt modification sites for NX_P07911

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001008390.1  NP_003352.2  

    ENSEMBL proteins: 
     ENSP00000379438   ENSP00000379442   ENSP00000460548   ENSP00000460374   ENSP00000458939  
     ENSP00000459738   ENSP00000460845   ENSP00000461641   ENSP00000459724   ENSP00000461120  
     ENSP00000458695   ENSP00000416346   ENSP00000306279   ENSP00000379446  

    Human Recombinant Protein Products: 
    EMD Millipore Purified and/or Recombinant UMOD Protein
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    OriGene Purified Protein: UMOD
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    OriGene Custom Protein Services for UMOD 
    GenScript Custom Purified and Recombinant Proteins Services for UMOD
    Novus Biologicals UMOD Protein
    Novus Biologicals UMOD Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for UMOD
    Uscn Proteins for UMOD

    Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000922spindle pole IDA--
    GO:0005576extracellular region ----
    GO:0005615extracellular space IEA--
    GO:0005794Golgi apparatus IEA--
    GO:0016323basolateral plasma membrane IDA7028707


    UMOD for ontologies           About GeneDecksing



    UMOD Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of UMOD
    R&D Systems Antibodies for UMOD (Uromodulin)
    Browse OriGene Antibodies
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    Novus Biologicals UMOD Antibodies
    Search for Antibodies for UMOD at Abcam  
    Uscn Antibodies for UMOD
    Search ThermoFisher Antibodies for UMOD

    Assay Products for UMOD: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for UMOD
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for UMOD


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

    UMOD for domains           About GeneDecksing

    5/10 InterPro domains/families (see all 10):
     IPR017977 ZP_dom_CS
     IPR001881 EGF-like_Ca-bd
     IPR000742 EG-like_dom
     IPR009030 Growth_fac_rcpt
     IPR001507 ZP_dom

    Graphical View of Domain Structure for InterPro Entry P07911

    ProtoNet protein and cluster: P07911

    3 Blocks protein families:
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB001507 Endoglin/CD105 antigen
    IPB001881 EGF-like calcium-binding


    UniProtKB/Swiss-Prot: UROM_HUMAN, P07911
    Domain: The ZP domain is involved in the polymerization of the protein to promote the formation of complex gel-like
    structure
    Similarity: Contains 3 EGF-like domains
    Similarity: Contains 1 ZP 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: UROM_HUMAN, P07911
    Function: Uromodulin: Functions in biogenesis and organization of the apical membrane of epithelial cells of the thick
    ascending limb of Henle's loop (TALH), where it promotes formation of complex filamentous gel-like structure providing
    the water barrier permeability. May serve as a receptor for binding and endocytosis for cytokines (IL-1, IL-2) and
    TNF. Facilitates neutrophil migration across renal epithelial
    Function: Uromodulin, secreted form: Secreted into urine after proteolytically cleaveage. Into the urine, may
    contribute to colloid osmotic pressure, retards passage of positively charged electrolytes, prevents urinary tract
    infection and modulates formation of supersaturated salts and their crystals

         Genatlas biochemistry entry for UMOD:
    uromodulin,uromucoid,expressed in kidney,homolog to GP2

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat UMOD
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate UMOD:
    hsa-miR-107 hsa-miR-103a
    SwitchGear 3'UTR luciferase reporter plasmidUMOD 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for UMOD (see all 7)
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    Gene Editing
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    Clone
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): UMOD (NM_001008389)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UMOD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UMOD 

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    Search LifeMap BioReagents cell lines for UMOD

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UMOD

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----


    UMOD for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for UMOD:
     Decreased viability with pacli  Increased gamma-H2AX phosphory 

    Animal Models:
         Mouse knock-outs for UMOD: Umodtm1Xrw Umodtm1Kuma
         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Umod):
     adipose tissue  growth/size  hematopoietic system  homeostasis/metabolism  immune system 
     other  renal/urinary system  skeleton 

    UMOD for phenotypes           About GeneDecksing


    (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-pathwaycontained gene-specific pathways
    1Selected targets of HNF1
    Selected targets of HNF11.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for UMOD
        Selected targets of HNF1




    UMOD for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UMOD

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for UMOD (P079113 ENSP000003062794) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LTAP013743, ENSP000004034954I2D: score=3 STRING: ENSP00000403495
    MMP8P228943, ENSP000002368264I2D: score=1 STRING: ENSP00000236826
    IL1BP015843I2D: score=1 
    --ENSP000003727934STRING: ENSP00000372793
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006968cellular defense response TAS2409603
    GO:0007588excretion IEA--
    GO:0008285negative regulation of cell proliferation TAS2409603
    GO:0010033response to organic substance IEA--
    GO:0048878chemical homeostasis IEA--


    UMOD 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

    UMOD for compounds           About GeneDecksing

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

    Browse Tocris compounds for UMOD
    10/29 Novoseek chemical compound relationships for UMOD gene (see all 29)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thps 90.1 8 17345077 (4), 7783702 (3)
    tamm 85.4 8 12900848 (2), 12270772 (1), 17065110 (1), 7490460 (1) (see all 6)
    calcium oxalate 82 55 7783702 (4), 10096372 (4), 12424489 (3), 15855216 (3) (see all 23)
    uric acid 64.5 15 16861244 (4), 11007825 (1), 12629136 (1), 17629875 (1) (see all 10)
    sialic acid 60.7 25 9352687 (4), 10460894 (3), 15637470 (2), 7664879 (1) (see all 13)
    oxalate 50.4 3 15327412 (1), 11007825 (1), 17629875 (1)
    creatinine 42.2 15 1488322 (1), 10572998 (1), 17616355 (1), 9650124 (1) (see all 10)
    citrate 38.4 20 7771027 (4), 10096372 (3), 8285211 (2), 17629875 (2) (see all 9)
    monosaccharide 37.8 3 10815984 (1), 10424459 (1)
    slex 36.7 3 10770931 (3)

    Search CenterWatch for drugs/clinical trials and news about UMOD / UROM 

    (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 UMOD gene (2 alternative transcripts): 
    NM_001008389.1  NM_003361.2  

    Unigene Cluster for UMOD:

    Uromodulin
    Hs.654425  [show with all ESTs]
    Unigene Representative Sequence: AK091961
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396134(uc002dhb.3) ENST00000396138(uc002dgz.3) ENST00000570689
    ENST00000570331 ENST00000573567 ENST00000571174 ENST00000577168 ENST00000574195
    ENST00000576688 ENST00000570757 ENST00000576546 ENST00000570972 ENST00000424589
    ENST00000302509(uc002dha.3) ENST00000396142

    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate UMOD:
    hsa-miR-107 hsa-miR-103a
    SwitchGear 3'UTR luciferase reporter plasmidUMOD 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): UMOD (NM_001008389)
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UMOD

    Additional cDNA sequence: 

    AK055722.1 AK091961.1 AK096043.1 AK127643.1 AK127648.1 BC035975.1 M15881.1 M17778.1 

    24/37 DOTS entries (see all 37):

    DT.120685796  DT.120685823  DT.95264795  DT.100020311  DT.107035  DT.120685818  DT.120685769  DT.120685856 
    DT.120685831  DT.120685825  DT.102827271  DT.120685783  DT.120685802  DT.101981138  DT.120685846  DT.100020313 
    DT.100754194  DT.120685844  DT.120685826  DT.70100028  DT.120685837  DT.120685810  DT.120685835  DT.120685843 

    24/103 AceView cDNA sequences (see all 103):

    BE463493 AI934416 AI768450 M15881 BG428950 AI640530 AI733047 AI700894 
    BX109279 AI284347 BE501786 AW051962 AI625807 AI791538 AK096043 BG401615 
    BE466514 AI791536 BX089145 BG430266 AW006836 AI793058 AI948705 BC035975 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for UMOD (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g ^ 7 ^ 8 ^ 9 ^ 10 ^
    SP1:                                                                          -                                                                                 
    SP2:                                                              -     -     -                 -     -     -     -     -     -     -                           
    SP3:                                                              -     -     -                                                                                 
    SP4:                                                                                                                                                            
    SP5:                                            -                                                                                                               

    ExUns: 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
    SP1:  -                                 
    SP2:  -                                 
    SP3:  -                                 
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for UMOD

    (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

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

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

    About this image

    UMOD expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    6 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyDistal TubuleDistal Tubule CellsKidney
    KidneyLoop of HenleLoop of Henle CellsKidney
    KidneyDistal TubuleKidney
    KidneyEpithelial TubuleKidney
    KidneyLoop of HenleKidney
    KidneyMetanephrosKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    Parietal epithelial cells (PEC) (Adult Stem / Progenitor Cell)Epithelium, Kidney
    Renal-like cells (Derivation of renal-...)
    Parietal epithelial cells (PEC) (Adult Stem / Progenitor Cell)Epithelium, Kidney

    See UMOD Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UMOD

    SOURCE GeneReport for Unigene cluster: Hs.654425

    UniProtKB/Swiss-Prot: UROM_HUMAN, P07911
    Tissue specificity: Synthesized exclusively in the kidney. Expressed exclusively by epithelial cells of the thick
    ascending limb of Henle's loop (TALH) and of distal convoluted tubule lumen. Most abundant protein in normal urine

        SABiosciences Expression via Pathway-Focused PCR Array including UMOD: 
              Terminal Differentiation Markers in human mouse rat

    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for UMOD
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat UMOD
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UMOD
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UMOD
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UMOD

    (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 UMOD gene from 2/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    55(a)
    possible ortholog
    GL343621.1(80661-89493)
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01078124.16
    BX284640.26
    (see all 3)
    --
    4(a)
    39(a)
    (see all 3)
    possible ortholog
    1 ↔ many
    (see all 3)
    3(4400696-4433577)
    1(55879044-55879346)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UMOD gene
    UMODL12  GP22  OIT32  
    11 SIMAP similar genes for UMOD using alignment to 11 protein entries:     UROM_HUMAN (see all proteins):
    GP2    DKFZp779K0533    UMODL1    NELL2    SNED1    FBLN2
    PROS1    CD97    LTBP3    MATN2    FBLN5

    UMOD for paralogs           About GeneDecksing



    (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

    508 NCBI SNPs in UMOD are shown (see top 10    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289345841,2
    Cpathogenic18896964(-) CGCCCG/TGTCTC 4 G C mis1 ese32Minor allele frequency- T:0.00NA 4
    rs289345831,2
    Cprobable-pathogenic18896622(-) AGACCT/CGCGTG 4 /R /C mis1 ese32Minor allele frequency- C:0.00NA 4
    rs289345821,2
    Cprobable-pathogenic18896828(-) GCACTG/ATGAGT 4 /Y /C mis12Minor allele frequency- A:0.00NA 4
    rs1134686671,2
    C,--18881140(+) AAAAGG/AGAGAA 2 -- ut312Minor allele frequency- A:0.07CSA WA 120
    rs1116999311,2
    C,--18881166(+) ACAAAG/ACATGA 2 -- ut312Minor allele frequency- A:0.05NA 122
    rs1138523961,2
    --18881202(+) TGGCCC/AGCATC 2 -- ut311Minor allele frequency- A:0.50CSA 2
    rs779993881,2
    F,--18881523(+) TCCTCC/TGGCAC 2 -- int11Minor allele frequency- T:0.10WA 118
    rs1149852071,2
    C,F,--18882666(+) GCACAC/ACCTGG 2 -- int11Minor allele frequency- A:0.03WA 118
    rs1114846041,2
    C,--18882815(+) AGATGG/TATCTT 2 -- int12Minor allele frequency- T:0.12CSA WA 120
    rs99350751,2
    C,F,H,--18883180(+) GCATAT/CCCTTT 2 -- int18Minor allele frequency- C:0.03NS EA CSA WA 523
    rs1116583371,2
    C,--18883981(+) ACAAAC/TCTCCT 2 -- int10--------
    rs118658241,2
    C,F,H,--18884105(+) accacT/Gcctaa 2 -- int16Minor allele frequency- G:0.02NS EA NA WA 540
    rs44961521,2
    H--18884284(-) TAGTAG/AATGTG 2 -- int14Minor allele frequency- A:0.00NS EA 416
    rs360023041,2
    C,--18884290(+) TACTAC/TAAATA 2 -- int12Minor allele frequency- T:0.05CSA WA 120
    rs1112662601,2
    --18884390(+) GTTACC/ATTCAT 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs45084251,2
    C,H--18884661(-) TTCCGA/GAGTGG 4 R syn1 ese34Minor allele frequency- G:0.00NS EA 416
    rs740119211,2
    C,F,--18885150(+) CTCTGG/CTAAAA 2 -- int13Minor allele frequency- C:0.07WA CSA 122
    rs727766581,2
    C,F,--18885630(+) AAGTGC/TGTAGA 2 -- int11Minor allele frequency- T:0.03NA 120
    rs727766591,2
    C,--18885689(+) AAACTG/CTCATC 2 -- int12Minor allele frequency- C:0.09NA 122
    rs770852631,2
    F,--18885827(+) GTACCG/AAGAGC 2 -- int11Minor allele frequency- A:0.04WA 118
    rs562100201,2
    C,--18885911(+) AACCCG/AAAATA 2 -- int12Minor allele frequency- A:0.10WA 120
    rs801502211,2
    F,--18886444(+) TCCCTG/CCTGTA 2 -- int11Minor allele frequency- C:0.03EA 120
    rs1116248761,2
    C,--18887082(+) CGTCTG/AAGAAT 2 -- int11Minor allele frequency- A:0.50NA 2
    rs713844461,2
    C,F,--18887094(+) GAAAAA/CCCCAG 2 -- int17Minor allele frequency- C:0.19NA WA CSA 248
    rs758642731,2
    C,--18887110(+) TGAGCT/CAACCT 2 -- int12Minor allele frequency- C:0.06WA 120
    rs1139232001,2
    --18888351(+) TCAAAC/TGACCA 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs727766601,2
    C,--18888564(+) AATGGC/TTTCAC 2 -- int12Minor allele frequency- T:0.03NA 122
    rs116422021,2
    C,H--18888967(+) AAAAAG/AATGCA 2 -- int1 trp34Minor allele frequency- A:0.00NS EA 412
    rs99287571,2
    C,F,H,--18889498(+) gctctG/Catttg 2 -- int119Minor allele frequency- C:0.10NS EA NA CSA WA 2141
    rs740119221,2
    C,--18889648(+) CCTGTA/GGCTTT 2 -- int12Minor allele frequency- G:0.08WA 120
    rs99289361,2
    C,F,A,H,--18889684(+) GACAGG/AAACAC 2 -- int118Minor allele frequency- A:0.14NS EA NA WA CSA 1920
    rs748395101,2
    F,--18889706(+) CTTTGG/ATCTCA 2 -- int11Minor allele frequency- A:0.03WA 118
    rs2005436421,2
    C--18889844(-) GGCTGG/TTNNNN 2 -- int10--------
    rs754596001,2
    C,F,--18890005(+) TAACTC/TGAGAC 2 -- int11Minor allele frequency- T:0.13WA 118
    rs748268881,2
    F,--18890070(+) GCATAC/TGCAGG 2 -- int11Minor allele frequency- T:0.02WA 118
    rs601368491,2
    C,F,--18890450(+) AGCACT/CCTTCT 2 -- int18Minor allele frequency- C:0.12NA WA CSA EA 368
    rs802698321,2
    --18891108(+) AATAAA/TTAAAT 2 -- int10--------
    rs341150671,2
    C,--18891218(+) AAAAA-/ATAAAA 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs740119241,2
    C,--18891279(+) GGCACT/CCTGCC 2 -- int12Minor allele frequency- C:0.09WA 120
    rs789136731,2
    C,--18891326(+) AGGAGC/TGTAAT 2 -- int10--------
    rs348570771,2
    C,F,--18892647(+) ATTAG-/AAAAAA 2 -- int12Minor allele frequency- A:0.50NA CSA 4
    rs2013646791,2
    C--18892647(-) TTTTTC/TCTAAT 2 -- int10--------
    rs1123967451,2
    --18892741(+) AGTTCC/TTTCAG 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs343569531,2
    C,F,--18892960(+) GACATG/TAATTA 2 -- int17Minor allele frequency- T:0.18NA WA CSA 248
    rs106566591,2
    C,--18893286(+) ttctt-/TTTC  
            
    tttct
    2 -- int1 trp30--------
    rs99404491,2
    H--18893658(+) TTTGAG/TGAGGC 2 -- int14Minor allele frequency- T:0.00NS EA 418
    rs1168251571,2
    C,F,--18893699(+) ATTAAG/AGATAC 2 -- int11Minor allele frequency- A:0.03WA 118
    rs1117654161,2
    F,--18893824(+) GGAGAG/ACTATC 2 -- int12Minor allele frequency- A:0.50CSA 4
    rs752557291,2
    F,--18893956(+) GTACTA/GTTATT 2 -- int11Minor allele frequency- G:0.03WA 118
    rs772255261,2
    C,--18895005(+) TTTTGA/TGACGG 2 -- int12Minor allele frequency- T:0.04WA 120
    rs116431331,2
    C,H,--18895026(+) ttcggA/C/Tgacaa 2 -- int12NA WA 122
    rs116432461,2
    C,H--18895118(+) ctcccG/Aagtag 2 -- int11Minor allele frequency- A:0.25NA 4
    rs778104191,2
    --18895670(+) TGCCAA/GTTGTA 2 -- int11Minor allele frequency- G:0.01WA 118
    rs771711101,2
    --18895942(+) TCAGAA/GAGAAG 2 -- int11Minor allele frequency- G:0.01EA 120
    rs749365671,2
    C,F,--18897425(+) GTCTTG/TCTCTG 2 -- int12Minor allele frequency- T:0.02WA NA 238
    rs1115368051,2
    C,--18897710(+) AACCTG/TTTGCC 2 -- int12Minor allele frequency- T:0.04WA 120
    rs747781841,2
    F,--18897792(+) GTGTCG/ACCTCC 2 -- int11Minor allele frequency- A:0.08WA 118
    rs348820801,2
    C,F,--18898097(+) CCACAA/GAATAT 2 -- int18Minor allele frequency- G:0.12NA WA CSA EA 368
    rs118653801,2
    C,H--18898120(+) aGGACA/CCCGCA 2 -- int10--------
    rs356508571,2
    C,F,--18898147(+) CCCAAC/TGTACT 2 -- int18Minor allele frequency- T:0.17NA WA CSA 250
    rs1124333561,2
    C,--18898514(+) GTCTCA/GAGTGC 2 -- int10--------
    rs1114490511,2
    --18898919(+) TGTCAC/TTTATA 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs1177385311,2
    C,F,--18898941(+) ATTGCA/GTAACA 2 -- int11Minor allele frequency- G:0.02NA 120
    rs749062851,2
    F,--18899306(+) CTTGAG/AACGAG 2 -- int11Minor allele frequency- A:0.06WA 118
    rs779819471,2
    C,F,--18899308(+) TGAGAC/TGNNNN 2 -- int11Minor allele frequency- T:0.02NA 120
    rs780524691,2
    C,--18900101(+) GACAAT/CTGATA 2 -- int12Minor allele frequency- C:0.07WA 120
    rs789920741,2
    F,--18900317(+) GATGCG/AACCTA 2 -- int11Minor allele frequency- A:0.08WA 118
    rs116428341,2
    H--18901590(+) AGAGCC/GTGAGT 2 -- us2k1 tfbs34Minor allele frequency- G:0.00NS EA 420
    rs1121002301,2
    C,--18902088(+) CATAGC/TATTCC 2 -- us2k11Minor allele frequency- T:0.50WA 2
    rs80621231,2
    C,F,A,H,--20343953(+) CCGCCG/TACTCG 2 -- ds500110Minor allele frequency- T:0.14NA WA CSA EA 372
    rs1445798331,2
    --20343977(+) CTAGGA/GTTACA 2 -- ds50010--------
    rs1484665601,2
    --20343987(+) AGGTGC/TGAGCC 2 -- ds50010--------
    rs1817114351,2
    --20343988(+) GGTGCA/GAGCCA 2 -- ds50010--------
    rs80609321,2
    C,F,A,H,--20344077(+) AGACAG/AGAAAC 2 -- ds500116Minor allele frequency- A:0.10NS EA NA WA CSA 793
    rs1858349851,2
    --20344148(+) ATAGTA/TGATGC 2 -- ds50010--------
    rs351374571,2
    C,--20344276(+) GGTTA-/TTTTTT 2 -- ds50010--------
    rs587841471,2
    C--20344279(+) TTTTT-/TCCCAC 2 -- ds50010--------
    rs1426155041,2
    --20344291(+) CCACCA/GTAGGA 2 -- ds50010--------
    rs1159845521,2
    F,--20344392(+) CATTAT/ATTTGC 2 -- ut311Minor allele frequency- A:0.02WA 118
    rs1505436561,2
    --20344418(+) GATGGC/GGGCCT 2 -- ut310--------
    rs1451658611,2
    C,F,--20344643(+) ACTGAA/GAAGTC 4 S F mis11Minor allele frequency- G:0.00NA 4536
    rs1995620691,2
    --20344735(+) GTACTA/GCTGTA 2 -- int10--------
    rs1432362081,2
    --20345068(+) AATGCC/TCGGTT 2 -- int10--------
    rs1910302601,2
    --20345070(+) TGCCCA/GGTTAG 2 -- int10--------
    rs1818199461,2
    --20345172(+) CCACAC/TGGAGA 2 -- int10--------
    rs1466725821,2
    --20345216(+) CCGGGC/TGTGGT 2 -- int10--------
    rs1402100981,2
    --20345334(+) CTGGGC/TGACAG 2 -- int10--------
    rs1498537711,2
    --20345402(+) TCCTTA/GGATCC 2 -- int10--------
    rs1458603821,2
    --20345453(+) ATTTTC/TAGACA 2 -- int10--------
    rs1870870301,2
    --20345455(+) TTTTAA/GACAAT 2 -- int10--------
    rs11236701,2
    C,F,A,H,--20345615(+) TCAACA/GAATAT 2 -- int124Minor allele frequency- N:0.00NS EA NA WA CSA 2558
    rs1911015801,2
    --20345714(+) TTCATA/GTCCTT 2 -- int10--------
    rs1824048981,2
    --20345844(+) TGTGGA/GTAAAC 2 -- int10--------
    rs1882643761,2
    --20345867(+) CCTACA/CTTCTC 2 -- int10--------
    rs1489925601,2
    --20345887(+) TCTGGA/GCATGC 2 -- int10--------
    rs1902234911,2
    --20345998(+) GTTGCC/GTCTTC 2 -- int10--------
    rs1165946091,2
    F,--20346057(+) GAGGAG/ACAAAG 2 -- int11Minor allele frequency- A:0.02WA 118
    rs113651321,2
    C--20346158(+) ACCTA-/TTTTTT 2 -- int1 trp30--------
    rs558085011,2
    --20346256(+) TTCAAA/GCCATT 2 -- int11Minor allele frequency- G:0.00CSA 1
    rs1384240731,2
    --20346278(+) GCCTCC/TCAAGT 2 -- int10--------
    rs1424482611,2
    --20346295(+) GAGGCA/GCGCGC 2 -- int10--------
    rs1464958671,2
    --20346395(+) CGCCCA/GCCTCA 2 -- int10--------
    rs1390472781,2
    C,--20346867(+) GATCAA/GTGAAT 2 -- int10--------
    rs1414103251,2
    --20346976(+) CATGTC/TACTCC 2 -- int10--------
    rs46353551,2
    C,F,H,--20347156(-) TACAGC/TTTGGG 2 -- int111Minor allele frequency- T:0.22NS EA NA WA 788
    rs1831709381,2
    --20347185(+) CAAAAG/TTATGA 2 -- int10--------
    rs1874595701,2
    --20347206(+) GAAAGA/GGAGCC 2 -- int10--------
    rs1926014731,2
    --20347229(+) CCCATC/GTTGGT 2 -- int10--------
    rs1857706311,2
    --20347320(+) AAAGAC/TGATAA 2 -- int10--------
    rs1380762151,2
    --20347795(+) TGTATA/GAATGG 2 -- int10--------
    rs1927345041,2
    --20347859(+) GCTCCC/TAGTTC 2 -- int10--------
    rs2003997981,2
    --20347973(+) CTTTCC/TGTGTG 4 Q R mis10--------
    rs1843399801,2
    C,--20348010(+) TTGATC/TTATGA 4 N D mis10--------
    rs1119924151,2
    C,F,--20348036(+) ATCTGG/ATCCCA 4 /T /I mis12Minor allele frequency- A:0.00CSA NA 4554
    rs1436412921,2
    C,F--20348048(+) AGCAGG/TTCTAC 4 N T mis12Minor allele frequency- T:0.00NA EU 5863
    rs1460047781,2
    --20348137(+) CACAGA/GTGCCT 2 -- int10--------
    rs1152573631,2
    F,--20348160(+) GGCAGA/TAGTTG 2 -- int11Minor allele frequency- T:0.03WA 118
    rs1161895481,2
    F,--20348221(+) TTAGAT/CAGATG 2 -- int11Minor allele frequency- C:0.05WA 118
    rs1166748961,2
    C,--20348575(+) CTTTGG/ATTACA 2 -- int12Minor allele frequency- A:0.00WA EU 1369
    rs1134524761,2
    C,--20348595(+) CTGGGG/AGAGGG 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs1996335131,2
    --20348692(+) CAAACC/TGGAAC 4 Q R mis10--------
    rs1887095831,2
    C,--20348705(+) CTGGAC/TGGAAA 4 I V mis10--------
    rs1811459491,2
    --20348940(+) TGATCA/GCAGCC 2 -- int10--------
    rs1844424221,2
    --20349069(+) CAGAGC/GTGAAA 2 -- int10--------
    rs1178497511,2
    --20349109(+) CCAGCA/GATGAC 2 -- int11Minor allele frequency- G:0.01NA 120
    rs1890316651,2
    --20349552(+) CAACTC/TCTGAA 2 -- int10--------
    rs1168848771,2
    F,--20349594(+) GTGCTC/TAAGCC 2 -- int11Minor allele frequency- T:0.02EA 120
    rs1462002561,2
    --20349652(+) GACTTA/GTCTCC 2 -- int10--------
    rs1815292091,2
    --20349711(+) CTCACC/TCCAGC 2 -- int10--------
    rs1484128681,2
    --20349718(+) CAGCTA/CCCACA 2 -- int10--------
    rs1425082841,2
    --20349797(+) TTTTCC/TGCAAT 2 -- int10--------
    rs1874378461,2
    --20350049(+) GACCTC/TGTGAT 2 -- int10--------
    rs1158790561,2
    F,--20350075(+) TCCCTG/ACTATG 2 -- int11Minor allele frequency- A:0.03WA 118
    rs80446501,2
    C,F,--20350163(+) TGCAAT/CCTCTG 2 -- int14Minor allele frequency- C:0.43NA WA CSA 7
    rs1394018921,2
    --20350174(+) CCTCCA/TGGGTT 2 -- int10--------
    rs1500524371,2
    --20350227(+) CAGGCA/GCCCAC 2 -- int10--------
    rs64974741,2
    C,--20350242(+) ATGCCC/TGTCTA 2 -- int18Minor allele frequency- T:0.00NA WA CSA 15
    rs1901872531,2
    --20350346(+) CCAAAG/TTGCTG 2 -- int10--------
    rs1810660991,2
    --20350372(+) GCCATC/TGTGCC 2 -- int10--------
    rs1466413361,2
    --20350468(+) AGAGAC/GATGAG 2 -- int10--------
    rs1479025891,2
    --20350529(+) AATCTA/CTGTGA 2 -- int10--------
    rs1859073041,2
    --20350583(+) TTTTTC/TTCTTT 2 -- int10--------
    rs1160403341,2
    F,--20350612(+) TGAGCG/ATTTTC 2 -- int11Minor allele frequency- A:0.09WA 118
    rs1903739351,2
    --20350617(+) GTTTTC/TCTGTG 2 -- int10--------
    rs1489366971,2
    --20350796(+) ACAAAA/CGAGTT 2 -- int10--------
    rs1825922001,2
    --20350905(+) ATCACA/TTTGGC 2 -- int10--------
    rs1855888621,2
    --20350928(+) ATATTC/TCCTTG 2 -- int10--------
    rs80517441,2
    C,H,--20351134(+) TTGTTC/TCTTCT 2 -- int117Minor allele frequency- T:0.00NS EA NA WA CSA 790
    rs748776741,2
    --20351206(+) ATGAAC/TGAGAA 2 -- int10--------
    rs1155819291,2
    F,--20351207(+) TGAACG/AAGAAA 2 -- int11Minor allele frequency- A:0.06WA 118
    rs118599161,2
    C,F,H,--20351231(+) TCATGG/ATAAGG 2 -- int124Minor allele frequency- A:0.26NS EA NA WA CSA 2770
    rs99235321,2
    C,F,A,H,--20351596(+) GGCTAA/GAGCTG 2 -- int17Minor allele frequency- G:0.42NS NA WA 368
    rs1150480261,2
    F,--20351721(+) CGACCA/GAAAAA 2 -- int11Minor allele frequency- G:0.03WA 118
    rs105335431,2
    C,--20351795(+) GTGTGTA/-TATAT 2 -- int11Minor allele frequency- -:0.50NA 2
    rs559061161,2
    C,--20351815(+) ATATAA/TAATAC 2 -- int11Minor allele frequency- T:0.00WA 2
    rs2010950571,2
    --20351815(+) ATATA-/TAATAC 2 -- int10--------
    rs1930843271,2
    --20351838(+) TTGCCA/GATACA 2 -- int10--------
    rs71980001,2
    C,F,H,--20351937(+) CACACG/AACCTG 2 -- int118Minor allele frequency- A:0.24NS EA NA WA CSA 2330
    rs1829924351,2
    --20352089(+) AGGGGG/TTGGAT 2 -- int10--------
    rs1865848671,2
    --20352153(+) TCTACC/TAAAAA 2 -- int10--------
    rs1911767631,2
    --20352252(+) CGGAGG/TTTGCA 2 -- int10--------
    rs1480783241,2
    C,--20352393(+) TCCCAA/TGTAGG 2 -- int10--------
    rs1840554201,2
    C,--20352402(+) GGAACC/TTTTGC 2 -- int10--------
    rs2020579541,2
    --20352430(+) ATGAAC/GTACTT 4 Y * stg10--------
    rs2008959861,2
    --20352490(+) AGCAGC/TGCAAA 4 A syn10--------
    rs1883976131,2
    C,--20352497(+) CAAATC/TGGGAC 4 Q R mis10--------
    rs1419126371,2
    C,F,--20352526(+) ATGGTG/ACCCAC 4 /G syn11Minor allele frequency- A:0.00NA 4552
    rs1418000381,2
    C,F,--20352532(+) CCCACG/ATAGAG 4 /Y syn12Minor allele frequency- A:0.01NA EU 5873
    rs1435838421,2
    C,F--20352584(+) GCTGCG/ATGTAG 4 /T /M mis11Minor allele frequency- A:0.00NA 4552
    rs1472224011,2
    F--20352607(+) AAGAGC/TGCCAT 4 A syn11Minor allele frequency- T:0.00NA 4552
    rs2017613781,2
    C,--20352614(+) CCATCC/TGCACG 4 Q R mis10--------
    rs1396071381,2
    C,F,--20352615(+) CATCCG/ACACGG 4 /R /W mis12Minor allele frequency- A:0.00NA EU 5875
    rs557722531,2
    C,F,--20352618(+) CCGCAC/AGGTGA 4 /V /L mis12Minor allele frequency- A:0.01NA EU 5873
    rs1386827011,2
    C,--20352636(+) GGTCCC/TGCCCA 4 R G mis10--------
    rs1119040301,2
    C,F,--20352637(+) GTCCCG/CCCCAC 4 /G syn12Minor allele frequency- C:0.00CSA NA 4554
    rs2005459571,2
    --20352691(+) GACCGA/GGCTGA 2 -- int10--------
    rs96462561,2
    C,F,H,--20352756(+) CAGTTA/GTTTGC 2 -- int123Minor allele frequency- G:0.23NS EA NA WA 2762
    rs1851452061,2
    --20352791(+) AACCCA/GCCAAC 2 -- int10--------
    rs1417330801,2
    --20352840(+) CTTGGG/TATCTA 2 -- int10--------
    rs1462266371,2
    --20352881(+) TTGGGA/GTGGGG 2 -- int10--------
    rs1907880831,2
    --20353008(+) CTACCC/TCTGTA 2 -- int10--------
    rs1390803451,2
    --20353022(+) TTCAAA/GATGGC 2 -- int10--------
    rs358303211,2
    C,--20353027(+) ATGGC-/AAAAAA 2 -- int10--------
    rs1494665301,2
    --20353058(+) ACCTGG/TATTCC 2 -- int10--------
    rs1438801551,2
    --20353073(+) TTGGTA/CTCAAT 2 -- int10--------
    rs1486043721,2
    --20353095(+) TAAAAA/GGTATT 2 -- int10--------
    rs47808841,2
    C,F,A,H,--20353127(+) CTTGCG/ATCCTG 2 -- int120Minor allele frequency- A:0.24NS EA NA CSA WA 2344
    rs1820268091,2
    --20353145(+) TCGTGA/GTGTAC 2 -- int10--------
    rs1854184561,2
    --20353147(+) GTGATA/GTACTA 2 -- int10--------
    rs1149246811,2
    F,--20353164(+) ATATCA/CGAAGA 2 -- int11Minor allele frequency- C:0.03WA 118
    rs1883673201,2
    --20353282(+) AATAAA/GGCACA 2 -- int10--------
    rs1807410231,2
    --20353322(+) TTTTAC/TAGATG 2 -- int10--------
    rs1456650481,2
    --20353578(+) CTGAGA/GTGGGA 2 -- int10--------
    rs1477430881,2
    --20353635(+) TGCCAA/CTGCAC 2 -- int10--------
    rs1409686911,2
    --20353637(+) CCACTG/TCACTC 2 -- int10--------
    rs1448033141,2
    --20353674(+) GATTCA/GTAACA 2 -- int10--------
    rs1512835381,2
    --20353742(+) AGGCCA/GAGGAC 2 -- int10--------
    rs1405075021,2
    --20353777(+) GCTAGC/GCCAGG 2 -- int10--------
    rs1857412961,2
    --20353816(+) GCACTA/CTTCTT 2 -- int10--------
    rs1403353091,2
    C,--20353827(+) CCTCC-/AAGTCA 2 -- int10--------
    rs1909921941,2
    --20353849(+) TCATCA/TGTGCC 2 -- int10--------
    rs1838204921,2
    --20353912(+) GCTTCA/GAAGGG 2 -- int10--------
    rs1445462031,2
    --20353915(+) TCGAA-/GGGAAG 2 -- int10--------
    rs1504221881,2
    --20354051(+) GAATAA/GTAATA 2 -- int10--------
    rs1451977701,2
    --20354099(+) TTTGAC/TGAGAT 2 -- int10--------
    rs1866848411,2
    --20354179(+) GGGCAC/TGGTGG 2 -- int10--------
    rs1165170971,2
    F,--20354184(+) CGGTGG/ACTCAC 2 -- int11Minor allele frequency- A:0.07WA 118
    rs74987511,2
    C,F,--20354280(+) AACCCT/CGTCTC 2 -- int13Minor allele frequency- C:0.33NA 6
    rs64974751,2
    C,F,A,H,--20354282(+) CCCCGC/TCTCTA 2 -- int15Minor allele frequency- T:0.46NA CSA 13
    rs1924109081,2
    --20354321(+) GTGGTA/GGGCAC 2 -- int10--------
    rs1387559711,2
    --20354384(+) GAGGCA/GGAGGT 2 -- int10--------
    rs1417753841,2
    --20354410(+) TCATGC/TCATTG 2 -- int10--------
    rs1839629411,2
    --20354447(+) ACTCCA/GTCTCA 2 -- int10--------
    rs1478463951,2
    --20354451(+) GTCTC-/AATA  
            
    AATAA
    2 -- int10--------
    rs1875989511,2
    --20354457(+) AATAAA/CTAAAT 2 -- int10--------
    rs1913077111,2
    --20354529(+) TGGCCC/TGTGAT 2 -- int10--------
    rs1820431431,2
    --20354722(+) AAATTC/TCTTTC 2 -- int10--------
    rs2017927121,2
    --20355309(+) TTAGAA/TCCATC 2 -- int10--------
    rs2012296851,2
    --20355386(+) TTTCAC/TGTCCA 4 M V mis10--------
    rs2003941841,2
    --20355389(+) CATGTC/TCAGGG 4 N D mis10--------
    rs1995657601,2
    --20355519(+) TGGAGC/GGGGGG 2 -- int10--------
    rs1871921531,2
    --20355634(+) AAAAAA/GCTGCC 2 -- int10--------
    rs1162874681,2
    F,--20355646(+) GTGGCC/TGGGCG 2 -- int11Minor allele frequency- T:0.03WA 118
    rs1180596351,2
    F,--20355650(+) CCGGGC/TGCATT 2 -- int11Minor allele frequency- T:0.06EA 120
    rs80542961,2
    C,F,--20355651(+) CGGGCG/ACATTA 2 -- int16Minor allele frequency- A:0.25NA CSA WA EA 364
    rs1926870431,2
    --20355672(+) GTAATC/TCCAGC 2 -- int10--------
    rs1480247191,2
    --20355723(+) AGTTCA/GAGACC 2 -- int10--------
    rs342628421,2
    C,--20355811(+) TCCCAG/ACTACT 2 -- int11Minor allele frequency- A:0.00NA 2
    rs113108381,2
    C,F--20355923(+) ATCTCA/-AAAAA 2 -- int1 trp32Minor allele frequency- -:0.50NA 4
    rs1505237081,2
    --20355941(+) AAAATC/TCCACA 2 -- int10--------
    rs116477271,2
    C,F,H,--20356165(+) GACAGG/AGATTC 2 -- int127Minor allele frequency- A:0.44NS EA WA NA CSA 2764
    rs1145148191,2
    F,--20356276(+) CATATG/ACCAAG 2 -- int11Minor allele frequency- A:0.03WA 118
    rs735412991,2
    C,--20356477(+) ATTACG/AGGTGC 2 -- int11Minor allele frequency- A:0.00WA 2
    rs1854345061,2
    --20356615(+) ACAGGC/TGTGAG 2 -- int10--------
    rs1998355071,2
    --20356722(+) TTTTT-/TTTTC 
            
    TTTCT
    2 -- int10--------
    rs285187751,2
    C--20356748(+) TTTCTC/TTCTCT 2 -- int11Minor allele frequency- T:0.00NA 2
    rs285320401,2
    C--20356750(+) TCTTTT/CTCTTT 2 -- int11Minor allele frequency- C:0.00NA 2
    rs1407589741,2
    --20356762(+) TTTCT-/TTCTTCCT 2 -- int10--------
    rs72037181,2
    C--20356781(+) ctttcC/Tttcct 2 -- int11Minor allele frequency- T:0.50NA 2
    rs71969241,2
    C--20356802(+) cttccC/Ttccct 2 -- int11Minor allele frequency- T:0.50NA 2
    rs1899089771,2
    --20356806(+) CTTCCC/TTCCCT 2 -- int10--------
    rs1930561671,2
    --20356816(+) TCCCTC/TCCTCC 2 -- int10--------
    rs71955811,2
    C,--20356824(+) tccctC/Tccttc 2 -- int10--------
    rs1849783561,2
    --20356828(+) TCCCTC/TCCTTC 2 -- int10--------
    rs1893087841,2
    --20356832(+) TTCCTC/TCCTTC 2 -- int10--------
    rs1808949341,2
    --20356938(+) TCCTCC/TGGTAA 2 -- int10--------
    rs1837477971,2
    --20356943(+) TGGTAA/CTGAGG 2 -- int10--------
    rs1448923471,2
    --20357138(+) CCCTAC/TTATGG 2 -- int10--------
    rs129343201,2
    C,F,--20357255(+) cacttC/Taacac 2 -- int19Minor allele frequency- T:0.19NA WA CSA 252
    rs1485483181,2
    --20357261(+) AACACA/GTTAAC 2 -- int10--------
    rs129344551,2
    C,F,--20357281(+) cctctC/Taatac 2 -- int15Minor allele frequency- T:0.22NA 128
    rs1428773991,2
    --20357353(+) GGCTAA/CATAAC 2 -- int10--------
    rs45069061,2
    C,F,A,H,--20357398(-) TCAAGC/TTTCAG 2 -- int122Minor allele frequency- T:0.29NS EA NA CSA WA 2339
    rs1899797151,2
    C,--20357444(+) AGGACA/GTACCG 2 -- int10--------
    rs2017659271,2
    --20357468(+) ACAGGA/GGCCAT 4 P S mis10--------
    rs2004149621,2
    C,--20357477(+) ATCCCG/AGGCTG 4 /R /W mis11Minor allele frequency- A:0.00EU 1285
    rs1811972111,2
    C,--20357482(+) GGGCTA/GGGGTC 4 P L mis10--------
    rs1468855081,2
    C,F,--20357484(+) GCTGGG/AGTCAC 4 /T syn11Minor allele frequency- A:0.00NA 4508
    rs2017388911,2
    --20357499(+) GACACC/GCAGTC 4 C W mis10--------
    rs1510613761,2
    C,F,--20357506(+) AGTCCC/TGGTTG 4 Q R mis11Minor allele frequency- T:0.00NA 4510
    rs1999260471,2
    --20357538(+) CACCGA/GCTGTC 4 S syn10--------
    rs786137131,2
    C,F,--20357568(+) TTGTCG/AAAGCC 4 /F syn12Minor allele frequency- A:0.00WA NA 4670
    rs2017989151,2
    --20357671(+) GTTAGC/GTGGGA 2 -- int10--------
    rs2007605931,2
    --20357684(+) GAGGAC/TGTGTG 2 -- int10--------
    rs1863922551,2
    C,--20357701(+) GCTTGA/GGGGCC 2 -- int10--------
    rs1916379341,2
    --20357958(+) CGTTTA/TAAAAA 2 -- int10--------
    rs1435611131,2
    --20357977(+) GCTAGA/CTGCGG 2 -- int10--------
    rs1813841401,2
    --20358048(+) CAGAGG/TTCAAT 2 -- int10--------
    rs1156122781,2
    F,--20358079(+) AATACG/ACATCT 2 -- int11Minor allele frequency- A:0.07WA 118
    rs1141122671,2
    F,--20358082(+) ACGCAT/CCTCCC 2 -- int12Minor allele frequency- C:0.07WA NA 238
    rs1150152221,2
    F,--20358178(+) TAGAAC/TGTGAA 2 -- int11Minor allele frequency- T:0.08WA 118
    rs1475027381,2
    C,--20358206(+) AAGAG-/AGA   
       AAGAA
    AGAAA
    2 -- int10--------
    rs1499733711,2
    C,--20358206(+) AAGAG-/AGAAAGA
    AAGAAAGAA
    AGAAA
    2 -- int10--------
    rs99280031,2
    C,F,H,--20358248(+) AAGCAA/CGCTGc 2 -- int111Minor allele frequency- C:0.08EA NS NA WA CSA 536
    rs1862584821,2
    --20358258(+) CAATTA/TCTTTC 2 -- int10--------
    rs713776461,2
    C,--20358346(+) CTCTCT/-TTTTT 2 -- int11Minor allele frequency- -:0.50NA 2
    rs1467659521,2
    --20358375(+) CTCTTC/TGGCGA 2 -- int10--------
    rs72034511,2
    C,F,A,H,--20358376(+) TCTTCG/AGCGAC 2 -- int110Minor allele frequency- A:0.37NA WA CSA EA 373
    rs1143337991,2
    F,--20358404(+) CAGAGG/ATGCCA 2 -- int11Minor allele frequency- A:0.12WA 118
    rs587688741,2
    --20358525(+) TTTTTA/TGTAGA 2 -- int10--------
    rs1908676751,2
    --20358627(+) GGCATA/GAGCCA 2 -- int10--------
    rs72042101,2
    C,F,A,H,--20358684(+) GGGCTC/GAGAGT 2 -- int113Minor allele frequency- G:0.25NA WA CSA EA 378
    rs1823421881,2
    --20358827(+) ACCTTC/TTTTTC 2 -- int10--------
    rs286402181,2
    C,F,--20359267(+) ACGTGG/TGTGCC 2 -- int111Minor allele frequency- T:0.22NA WA CSA EA 374
    rs746576691,2
    C,--20359503(+) GCAGTG/AACAGG 2 -- int12Minor allele frequency- A:0.10CSA WA 120
    rs2005718531,2
    --20359517(+) CTCAAA/CAACCC 2 -- int10--------
    rs285444231,2
    C,F,--20359633(+) CACGTC/TCCCTC 4 G syn1 ese310Minor allele frequency- T:0.16NA WA CSA EU 6124
    rs1490748661,2
    C,--20359682(+) ACAATA/CAATAA 2 -- int10--------
    rs801426721,2
    C,--20359723(+) CCAGGC/TCTGGG 2 -- int13Minor allele frequency- T:0.08CSA WA EA 240
    rs786912031,2
    C,F,--20359783(+) CACTCG/AGGGGG 4 /P syn13Minor allele frequency- A:0.02WA NA EU 4727
    rs1413838441,2
    C--20359807(+) TAGACG/TTAGTA 4 * Y stg11Minor allele frequency- T:0.00NA 3326
    rs133358181,2
    C,F,H,--20359831(+) GCCTTC/TACCTG 4 V syn123Minor allele frequency- T:0.14NS EA NA CSA WA EU 5895
    rs1875553781,2
    C,--20360085(+) GTCCAC/GGGTGC 4 L V mis10--------
    rs71930581,2
    C,F,A,--20360101(+) GCCTGA/GCACGG 4 C syn1 ese310Minor allele frequency- G:0.43NA WA CSA EA 374
    rs1439656811,2
    C,F,--20360290(+) GCGCAC/TTCATC 4 E syn11Minor allele frequency- T:0.00NA 3262
    rs778754181,2
    C,F,--20360359(+) AAGGAG/ACCTGG 4 /G syn13Minor allele frequency- A:0.02WA EA NA 4348
    rs1432481111,2
    C--20360439(+) GCAGGT/GCAGGC 4 /T /P mis11Minor allele frequency- G:0.00NA 4472
    rs1468584401,2
    F--20360485(+) GTAACG/AGCCTC 4 /A syn11Minor allele frequency- A:0.00NA 4138
    rs1114839461,2
    C,--20360555(+) CCCAGC/TTTCAG 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs2015096081,2
    --20360577(+) CTGGGC/TCCATG 2 -- int10--------
    rs1831024631,2
    --20360649(+) AGAGGG/TCTCCC 2 -- int10--------
    rs1482144991,2
    --20360689(+) AAACTC/TCTCTG 2 -- int10--------
    rs1881324791,2
    --20360770(+) GAGAGA/GGGTCT 2 -- int10--------
    rs1929236801,2
    --20360797(+) CTGGAC/GTGCAG 2 -- int10--------
    rs1843601721,2
    --20360840(+) TCCTGC/GGTTCA 2 -- int10--------
    rs1168927781,2
    F,--20360907(+) AGTTGG/TGACCA 2 -- int11Minor allele frequency- T:0.03NA 120
    rs1427177311,2
    --20360919(+) AGGCAC/TGTGCA 2 -- int10--------
    rs1880774751,2
    --20360934(+) CGCCCA/GGCTCC 2 -- int10--------
    rs713776471,2
    C,F,--20360993(+) AATAGCCACA   
       TTC
    /-
    CCACA
    2 -- int12Minor allele frequency- -:0.50NA CSA 4
    rs1473567611,2
    --20361048(+) ACGGTA/GAACCT 2 -- int10--------
    rs125993121,2
    C,F,H,--20361059(+) GTTGCC/TCCTCC 2 -- int1 trp36Minor allele frequency- T:0.01NS EA NA 544
    rs1112857961