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UMOD Gene

protein-coding   GIFtS: 63
GCID: GC16M020344

Uromodulin

(Previous names: uromodulin (uromucoid, Tamm-Horsfall glycoprotein))
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
uromodulin1 2     HNFJ12 5
uromucoid1 2     MCKD22 5
THP2 3     Tamm-Horsfall Glycoprotein1
Tamm-Horsfall Urinary Glycoprotein2 3     Uromodulin (Uromucoid, Tamm-Horsfall Glycoprotein)1
ADMCKD22 5     HNFJ2
FJHN2 5     THGP2

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for UMOD Gene:
The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions.
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. This
protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein
in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this
gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney
disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN).
Alternative splicing of this gene results in multiple transcript variants. (provided by RefSeq, Jul 2013)

GeneCards Summary for UMOD Gene:
UMOD (uromodulin) is a protein-coding gene. Diseases associated with UMOD include uromodulin-associated kidney disease, and umod-associated kidney disease. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is GP2.

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) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000016.10  NT_187260.1  NC_018927.2  
Regulatory elements:
   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 Chromatin IP Primers for UMOD

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: UROM_HUMAN, P07911 (See protein sequence)
Recommended Name: Uromodulin precursor  
Size: 640 amino acids; 69761 Da
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

Explore proteomics data for UMOD at MOPED

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
  • Glycosylation2 at Asn38, Asn76, Asn80, Asn232, Asn275, Asn322, Asn396

  • See UMOD Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001008390.1  NP_001265543.1  NP_003352.2  

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

    UMOD Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant UMOD Protein
    Browse R&D Systems for human recombinant proteins
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    OriGene Purified Protein for UMOD
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    OriGene MassSpec for UMOD
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    Novus Biologicals UMOD Protein
    Novus Biologicals UMOD Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for UMOD
    Cloud-Clone Corp. Proteins for UMOD

    UMOD Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of UMOD
    R&D Systems Antibodies for UMOD (Uromodulin)
    OriGene Antibodies for UMOD
    OriGene Custom Antibody Services for UMOD
    Novus Biologicals UMOD Antibodies
    Abcam antibodies for UMOD
    Cloud-Clone Corp. Antibodies for UMOD
    ThermoFisher Antibodies for UMOD
    LSBio Antibodies in human, mouse, rat for UMOD

    UMOD Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for UMOD
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for UMOD
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for UMOD
    Cloud-Clone Corp. CLIAs for UMOD


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 10):
     IPR017977 ZP_dom_CS
     IPR000742 EG-like_dom
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS
     IPR024731 EGF_dom_MSP1-like

    Graphical View of Domain Structure for InterPro Entry P07911

    ProtoNet protein and cluster: P07911

    3 Blocks protein domains:
    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


    UMOD for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
         
    UMOD for ontologies           About GeneDecksing


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

         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Umod):
     adipose tissue  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     other  renal/urinary system  skeleton 

    UMOD for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for UMOD: Umodtm1Xrw Umodtm1Kuma

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UMOD
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for UMOD

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UMOD
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UMOD

    miRNA
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    Block miRNA regulation of human, mouse, rat UMOD using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate UMOD:
    hsa-miR-107 hsa-miR-103a
    SwitchGear 3'UTR luciferase reporter plasmidUMOD 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for UMOD
    Predesigned siRNA for gene silencing in human, mouse, rat UMOD

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for UMOD

    Clone
    Products:
         
    OriGene clones in human, mouse for UMOD (see all 11)
    OriGene ORF clones in mouse, rat for UMOD
    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)
    Sino Biological Human cDNA Clone for UMOD
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UMOD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UMOD

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for UMOD
    Browse ESI BIO Cell Lines and PureStem Progenitors for UMOD 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UMOD


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    UROM_HUMAN, P07911: 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
    UROM_HUMAN, P07911: Uromodulin, secreted form: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    extracellular5
    plasma membrane5
    endoplasmic reticulum2
    golgi apparatus2
    cytosol1
    lysosome1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 14):    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


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for UMOD About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Selected targets of HNF1
    Selected targets of HNF1




        Pathway & Disease-focused RT2 Profiler PCR Array including UMOD: 
              Terminal Differentiation Markers in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for UMOD

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

    Selected Interacting proteins for UMOD (P079113 ENSP000003062794) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LTAP013743, ENSP000004034954I2D: score=3 STRING: ENSP00000403495
    ENSG00000230279P013743I2D: score=3 
    ENSG00000231408P013743I2D: score=3 
    MMP8P228943, ENSP000002368264I2D: score=1 STRING: ENSP00000236826
    IL1BP015843I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for UMOD (UROM)

    Selected Novoseek inferred 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)



    UMOD for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for UMOD gene (3 alternative transcripts): 
    NM_001008389.2  NM_001278614.1  NM_003361.3  

    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
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    2 qRT-PCR 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 RNAi products in human, mouse, rat for UMOD
    Predesigned siRNA for gene silencing in human, mouse, rat UMOD
    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UMOD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UMOD
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UMOD
      QuantiTect SYBR Green Assays in human, mouse, rat UMOD
      QuantiFast Probe-based Assays in human, mouse, rat UMOD

    Additional mRNA sequence: 

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

    Selected 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 

    Selected AceView cDNA sequences (see all 103):

    M15881 BG430266 AI733047 BG428950 AI934416 AI700894 BX089145 AI768450 
    AI284347 BE466514 BE463493 BX109279 BE501786 AK096043 AI791538 AI791536 
    AW051962 AI640530 BG401615 AI625807 BG400435 AK091961 AI928388 AI566001 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    UMOD expression in normal human tissues (normalized intensities)      UMOD embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTGTTCAG
    UMOD Expression
    About this image


    UMOD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Kidney (Urinary System)    fully expand to see all 16 entries
             Loop of Henle Cells Loop of Henle
             Metanephros
             Parietal epithelial cells (PEC)
             Renal-like cells
             kidney ; cells in tubules   
             visceral organ/metanephros/renal cortex   
     
     Epithelial Cells
             Loop of Henle Cells Loop of Henle
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
    UMOD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UMOD Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including UMOD: 
              Terminal Differentiation Markers in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for UMOD
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UMOD
    QuantiTect SYBR Green Assays in human, mouse, rat UMOD
    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

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    This gene was present in the common ancestor of chordates.

    Orthologs for UMOD gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Umod1 , 5 uromodulin1, 5 79.52(n)1
    77.96(a)1
      7 (63.88 cM)5
    222421  NM_001278605.11  NP_001265534.11 
     1194628665 
    chicken
    (Gallus gallus)
    Aves ZPD6
    Gallus gallus zona pellucida protein D (ZPD), mRNA...
    24(a)
    1 → many
    11(520634-524598)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    52(a)
    1 → many
    GL343621.1(77126-92542)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1017317331 uromodulin-like 54.3(n)
    52.73(a)
      101731733  XM_004918289.1  XP_004918346.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch73-181m17.16
    CABZ01048956.16
    (see all 22)
    --
    8(a)
    8(a)
    (see all 22)
    many ↔ many
    many ↔ many
    (see all 22)
    12(40527745-40575215) ENSDARG00000097080
    12(46994362-47010486) ENSDARG00000089465


    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

    TryGeneCards Plus
    Paralogs for UMOD gene
    GP22  OIT32  
    13 SIMAP similar genes for UMOD using alignment to 11 protein entries:     UROM_HUMAN (see all proteins):
    GP2    DKFZp779K0533    UMODL1    FBN3    NELL2    SNED1
    LTBP1    FBLN2    PROS1    NOTCH2    MEGF6    CD97
    LTBP3

    UMOD for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for UMOD (see all 646)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289345831,2,,4
    CFamilial juvenile hyperuricemic nephropathy 1 (HNFJ1)4 pathogenic120363175(-) AGACCC/TGCGTG 4 R C mis1 ese30--------
    rs289345821,2,,4
    CFamilial juvenile hyperuricemic nephropathy 1 (HNFJ1)4 pathogenic120363381(-) GCACTA/GTGAGT 4 Y C mis10--------
    rs289345841,2,,4
    CMedullary cystic kidney disease 2 (MCKD2)4 pathogenic120363517(-) CGCCCG/TGTCTC 4 G C mis1 ese30--------
    VAR_0259584
    Medullary cystic kidney disease 2 (MCKD2)4--see VAR_0259582 C W mis40--------
    VAR_0259594
    Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)4--see VAR_0259592 C Y mis40--------
    VAR_0259524
    Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)4--see VAR_0259522 C R mis40--------
    VAR_0259574
    Medullary cystic kidney disease 2 (MCKD2)4--see VAR_0259572 T K mis40--------
    VAR_0259604
    Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)4--see VAR_0259602 C G mis40--------
    VAR_0259564
    Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)4--see VAR_0259562 C Y mis40--------
    VAR_0259504
    Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)4--see VAR_0259502 C Y mis40--------
    VAR_0259614
    Glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI)4--see VAR_0259612 C R mis40--------
    VAR_0259534
    Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)4--see VAR_0259532 N S mis40--------
    rs58161021,2
    C--18882011(+) aaaaa-/A/AAA 
            
    GCCAA
    4 -- int1 cds1 trp31NA 2
    rs113651321,2
    C--18882793(+) ACCTA-/TTTTTT 2 -- int1 trp30--------
    rs559061161,2
    C--18888450(+) ATATAA/TAATAC 2 -- int11Minor allele frequency- T:0.00WA 2
    rs573232251,2
    C--18888450(+) ATATA-/T/TA  
            
    AATAC
    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--------
    rs106566591,2
    C--18893286(+) ttctt-/TTTC  
            
    tttct
    2 -- int1 trp30--------
    rs723037391,2
    C--18893287(+) TCTTT-/TTTC  
            
    TTCTT
    2 -- int10--------
    rs342345531,2
    C--18897869(+) AAAAA-/AGAAGC 2 -- int10--------
    rs1378796411,2
    --18897870(+) CCATTA/TAAAAA 2 -- int10--------
    rs80621231,2
    C,F,A,H--20347071(+) ccgccG/Tactcg 2 -- ds500110Minor allele frequency- T:0.14NA WA CSA EA 372
    rs1445798331,2
    --20347095(+) CTAGGA/GTTACA 2 -- ds50010--------
    rs1484665601,2
    --20347105(+) AGGTGC/TGAGCC 2 -- ds50010--------
    rs1817114351,2
    C--20347106(+) GGTGCA/C/GAGCCA 2 -- ds50010--------
    rs80609321,2
    C,F,A,H--20347195(+) agacaG/Agaaac 2 -- ds500116Minor allele frequency- A:0.10NS EA NA WA CSA 793
    rs1858349851,2
    --20347266(+) ATAGTA/TGATGC 2 -- ds50010--------
    rs1426155041,2
    --20347410(+) CCACCA/GTAGGA 2 -- ds50010--------
    rs1159845521,2
    C,F--20347511(+) CATTAT/ATTTGC 2 -- ut311Minor allele frequency- A:0.02WA 118
    rs1505436561,2
    C--20347537(+) GATGGC/GGGCCT 2 -- ut310--------
    rs1134686671,2
    C--20347625(+) AAAAGG/AGAGAA 2 -- ut312Minor allele frequency- A:0.07CSA WA 120
    rs1116999311,2
    C,F--20347651(+) ACAAAG/ACATGA 2 -- ut312Minor allele frequency- A:0.05NA 122
    rs1138523961,2
    C,F--20347687(+) TGGCCC/AGCATC 2 -- ut311Minor allele frequency- A:0.50CSA 2
    rs1999047261,2
    C--20347747(+) TTTCCG/ACTGTC 2 -- ut311Minor allele frequency- A:0.00EU 1117
    rs1451658611,2
    C,F--20347762(+) ACTGAA/GAAGTC 4 S F mis11Minor allele frequency- G:0.00NA 4536
    rs1995620691,2
    C--20347854(+) GTACTA/GCTGTA 2 -- int10--------
    rs779993881,2
    F--20348008(+) TCCTCC/TGGCAC 2 -- int11Minor allele frequency- T:0.10WA 118
    rs1432362081,2
    --20348187(+) AATGCC/TCGGTT 2 -- int10--------
    rs1130384281,2
    C--20348188(+) ATGCCT/CGGTTA 2 -- int11Minor allele frequency- C:0.00CSA 1
    rs1910302601,2
    --20348189(+) TGCCCA/GGTTAG 2 -- int10--------
    rs1818199461,2
    --20348291(+) CCACAC/TGGAGA 2 -- int10--------
    rs1466725821,2
    --20348335(+) CCGGGC/TGTGGT 2 -- int10--------
    rs1402100981,2
    --20348453(+) CTGGGC/TGACAG 2 -- int10--------
    rs1498537711,2
    --20348599(+) TCCTTA/GGATCC 2 -- int10--------
    rs1458603821,2
    --20348650(+) ATTTTC/TAGACA 2 -- int10--------
    rs1870870301,2
    --20348652(+) TTTTAA/GACAAT 2 -- int10--------
    rs11236701,2
    C,F,A,H--20348812(+) TCAACA/GAATAT 2 -- int124Minor allele frequency- N:0.00NS EA NA WA CSA 2558
    rs1911015801,2
    --20348911(+) TTCATA/GTCCTT 2 -- int10--------
    rs1824048981,2
    --20349041(+) TGTGGA/GTAAAC 2 -- int10--------
    rs1882643761,2
    --20349064(+) CCTACA/CTTCTC 2 -- int10--------
    rs1489925601,2
    --20349084(+) TCTGGA/GCATGC 2 -- int10--------
    rs1902234911,2
    --20349195(+) GTTGCC/GTCTTC 2 -- int10--------
    rs1149852071,2
    C,F--20349228(+) GCACAC/ACCTGG 2 -- int11Minor allele frequency- A:0.03WA 118
    rs1165946091,2
    F--20349254(+) GAGGAG/ACAAAG 2 -- int11Minor allele frequency- A:0.02WA 118
    rs1114846041,2
    C,F--20349376(+) AGATGG/TATCTT 2 -- int12Minor allele frequency- T:0.12CSA WA 120
    rs558085011,2
    C--20349452(+) TTCAAA/GCCATT 2 -- int11Minor allele frequency- G:0.00CSA 1
    rs1384240731,2
    --20349474(+) GCCTCC/TCAAGT 2 -- int10--------
    rs1424482611,2
    C--20349491(+) GAGGCA/GCGCGC 2 -- int10--------
    rs1464958671,2
    C--20349591(+) CGCCCA/GCCTCA 2 -- int10--------
    rs99350751,2
    C,F,H--20349741(+) GCATAT/CCCTTT 2 -- int18Minor allele frequency- C:0.03NS EA CSA WA 523
    rs1390472781,2
    C--20350063(+) GATCAA/GTGAAT 2 -- int10--------
    rs1414103251,2
    --20350172(+) CATGTC/TACTCC 2 -- int10--------
    rs46353551,2
    C,F,H--20350352(-) tacagC/Tttggg 2 -- int111Minor allele frequency- T:0.22NS EA NA WA 788
    rs1831709381,2
    --20350381(+) CAAAAG/TTATGA 2 -- int10--------
    rs1874595701,2
    --20350402(+) GAAAGA/GGAGCC 2 -- int10--------
    rs1926014731,2
    C--20350425(+) CCCATC/GTTGGT 2 -- int10--------
    rs1857706311,2
    --20350516(+) AAAGAC/TGATAA 2 -- int10--------
    rs1116583371,2
    C--20350542(+) ACAAAC/TCTCCT 2 -- int10--------
    rs118658241,2
    C,F,H--20350666(+) accacT/Gcctaa 2 -- int16Minor allele frequency- G:0.02NS EA NA WA 540
    rs44961521,2
    H--20350845(-) TAGTAG/AATGTG 2 -- int14Minor allele frequency- A:0.00NS EA 416
    rs360023041,2
    C--20350851(+) TACTAC/TAAATA 2 -- int12Minor allele frequency- T:0.05CSA WA 120
    rs1112662601,2
    F--20350951(+) GTTACC/ATTCAT 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs1380762151,2
    --20350991(+) TGTATA/GAATGG 2 -- int10--------
    rs1927345041,2
    C--20351055(+) GCTCCC/TAGTTC 2 -- int10--------
    rs2003997981,2
    --20351169(+) CTTTCC/TGTGTG 4 Q R mis10--------
    rs1843399801,2
    C--20351206(+) TTGATC/TTATGA 4 N D mis10--------
    rs45084251,2
    C,H--20351222(-) TTCCGA/GAGTGG 4 R syn1 ese34Minor allele frequency- G:0.00NS EA 416
    rs1119924151,2
    C,F--20351232(+) ATCTGG/ATCCCA 4 /T /I mis12Minor allele frequency- A:0.00CSA NA 4554
    rs1436412921,2
    C,F--20351244(+) AGCAGG/TTCTAC 4 N T mis12Minor allele frequency- T:0.00NA EU 5863
    rs1460047781,2
    --20351333(+) CACAGA/GTGCCT 2 -- int10--------
    rs1152573631,2
    C,F--20351356(+) GGCAGA/TAGTTG 2 -- int11Minor allele frequency- T:0.03WA 118
    rs1161895481,2
    C,F--20351417(+) TTAGAT/CAGATG 2 -- int11Minor allele frequency- C:0.05WA 118
    rs740119211,2
    C,F--20351711(+) CTCTGG/CTAAAA 2 -- int13Minor allele frequency- C:0.07WA CSA 122
    rs1166748961,2
    C--20351771(+) CTTTGG/ATTACA 2 -- int12Minor allele frequency- A:0.00WA EU 1369
    rs1134524761,2
    C--20351791(+) CTGGGG/AGAGGG 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs1996335131,2
    C--20351888(+) CAAACC/TGGAAC 4 Q R mis10--------
    rs1887095831,2
    C--20351901(+) CTGGAC/TGGAAA 4 I V mis10--------
    rs1811459491,2
    --20352136(+) TGATCA/GCAGCC 2 -- int10--------
    rs727766581,2
    C,F--20352191(+) AAGTGC/TGTAGA 2 -- int11Minor allele frequency- T:0.03NA 120
    rs727766591,2
    C,F--20352250(+) AAACTG/CTCATC 2 -- int12Minor allele frequency- C:0.09NA 122
    rs1844424221,2
    --20352265(+) CAGAGC/GTGAAA 2 -- int10--------
    rs1178497511,2
    C,F--20352305(+) CCAGCA/GATGAC 2 -- int11Minor allele frequency- G:0.01NA 120
    rs770852631,2
    F--20352388(+) GTACCG/AAGAGC 2 -- int11Minor allele frequency- A:0.04WA 118
    rs562100201,2
    C,F--20352472(+) AACCCG/AAAATA 2 -- int12Minor allele frequency- A:0.10WA 120
    rs1890316651,2
    --20352748(+) CAACTC/TCTGAA 2 -- int10--------
    rs1168848771,2
    F--20352790(+) GTGCTC/TAAGCC 2 -- int11Minor allele frequency- T:0.02EA 120
    rs1462002561,2
    C--20352848(+) GACTTA/GTCTCC 2 -- int10--------
    rs1815292091,2
    --20352907(+) CTCACC/TCCAGC 2 -- int10--------
    rs1484128681,2
    --20352914(+) CAGCTA/CCCACA 2 -- int10--------
    rs1425082841,2
    --20352993(+) TTTTCC/TGCAAT 2 -- int10--------
    rs801502211,2
    C,F--20353005(+) TCCCTG/CCTGTA 2 -- int11Minor allele frequency- C:0.03EA 120
    rs1874378461,2
    --20353245(+) GACCTC/TGTGAT 2 -- int10--------
    rs1158790561,2
    F--20353271(+) TCCCTG/ACTATG 2 -- int11Minor allele frequency- A:0.03WA 118
    rs80446501,2
    C,F--20353359(+) tgcaaT/Cctctg 2 -- int14Minor allele frequency- C:0.43NA WA CSA 7
    rs1394018921,2
    C--20353370(+) CCTCCA/TGGGTT 2 -- int10--------
    rs1500524371,2
    --20353423(+) CAGGCA/GCCCAC 2 -- int10--------
    rs64974741,2
    C--20353438(+) atgccC/Tgtcta 2 -- int18Minor allele frequency- T:0.00NA WA CSA 15
    rs1901872531,2
    --20353542(+) CCAAAG/TTGCTG 2 -- int10--------
    rs1810660991,2
    --20353568(+) GCCATC/TGTGCC 2 -- int10--------
    rs1116248761,2
    C,F--20353643(+) CGTCTG/AAGAAT 2 -- int11Minor allele frequency- A:0.50NA 2
    rs713844461,2
    C,F--20353655(+) GAAAAA/CCCCAG 2 -- int17Minor allele frequency- C:0.19NA WA CSA 248
    rs1466413361,2
    --20353664(+) AGAGAC/GATGAG 2 -- int10--------
    rs758642731,2
    C,F--20353671(+) TGAGCT/CAACCT 2 -- int12Minor allele frequency- C:0.06WA 120
    rs1479025891,2
    --20353725(+) AATCTA/CTGTGA 2 -- int10--------
    rs1859073041,2
    --20353779(+) TTTTTC/TTCTTT 2 -- int10--------
    rs1160403341,2
    F--20353808(+) TGAGCG/ATTTTC 2 -- int11Minor allele frequency- A:0.09WA 118
    rs1903739351,2
    --20353813(+) GTTTTC/TCTGTG 2 -- int10--------
    rs1489366971,2
    --20353992(+) ACAAAA/CGAGTT 2 -- int10--------
    rs1825922001,2
    --20354101(+) ATCACA/TTTGGC 2 -- int10--------
    rs1855888621,2
    --20354124(+) ATATTC/TCCTTG 2 -- int10--------
    rs80517441,2
    C,H--20354330(+) ttgttC/Tcttct 2 -- int117Minor allele frequency- T:0.00NS EA NA WA CSA 790
    rs748776741,2
    --20354402(+) ATGAAC/TGAGAA 2 -- int10--------
    rs1155819291,2
    C,F--20354403(+) TGAACG/AAGAAA 2 -- int11Minor allele frequency- A:0.06WA 118
    rs118599161,2
    C,F,H--20354427(+) TCATGG/ATAAGG 2 -- int124Minor allele frequency- A:0.26NS EA NA WA CSA 2770
    rs99235321,2
    C,F,A,H--20354792(+) ggctaA/Gagctg 2 -- int17Minor allele frequency- G:0.42NS NA WA 368
    rs1139232001,2
    F--20354912(+) TCAAAC/TGACCA 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs1150480261,2
    F--20354917(+) CGACCA/GAAAAA 2 -- int11Minor allele frequency- G:0.03WA 118
    rs105335431,2
    C--20354991(+) GTGTGTA/-TATAT 2 -- int11Minor allele frequency- -:0.50NA 2
    rs1930843271,2
    --20355032(+) TTGCCA/GATACA 2 -- int10--------
    rs727766601,2
    C,F--20355123(+) AATGGC/TTTCAC 2 -- int12Minor allele frequency- T:0.03NA 122
    rs71980001,2
    C,F,H--20355131(+) cacacG/Aacctg 2 -- int118Minor allele frequency- A:0.24NS EA NA WA CSA 2330
    rs1829924351,2
    --20355283(+) AGGGGG/TTGGAT 2 -- int10--------
    rs1865848671,2
    --20355347(+) TCTACC/TAAAAA 2 -- int10--------
    rs1911767631,2
    --20355446(+) CGGAGG/TTTGCA 2 -- int10--------
    rs116422021,2
    C,H--20355526(+) aaaaaG/Aatgca 2 -- int1 trp34Minor allele frequency- A:0.00NS EA 412
    rs1480783241,2
    C--20355587(+) TCCCAA/TGTAGG 2 -- int10--------
    rs1840554201,2
    C--20355596(+) GGAACC/TTTTGC 2 -- int10--------
    rs2020579541,2
    --20355624(+) ATGAAC/GTACTT 4 Y * stg10--------
    rs2008959861,2
    C--20355684(+) AGCAGC/TGCAAA 4 A syn10--------
    rs1883976131,2
    C--20355691(+) CAAATC/TGGGAC 4 Q R mis10--------
    rs1419126371,2
    C,F--20355720(+) ATGGTG/ACCCAC 4 /G syn11Minor allele frequency- A:0.00NA 4552
    rs1418000381,2
    C,F--20355726(+) CCCACG/ATAGAG 4 /Y syn12Minor allele frequency- A:0.01NA EU 5873
    rs1435838421,2
    C,F--20355778(+) GCTGCG/ATGTAG 4 /T /M mis11Minor allele frequency- A:0.00NA 4552
    rs1472224011,2
    F--20355801(+) AAGAGC/TGCCAT 4 A syn11Minor allele frequency- T:0.00NA 4552
    rs2017613781,2
    C--20355808(+) CCATCC/TGCACG 4 Q R mis10--------
    rs1396071381,2
    C,F--20355809(+) CATCCG/ACACGG 4 /R /W mis12Minor allele frequency- A:0.00NA EU 5875
    rs557722531,2,,4
    C,F--20355812(+) CCGCAC/AGGTGA 4 /V /L mis12Minor allele frequency- A:0.01NA EU 5873
    rs1444614871,2
    C--20355825(+) ATGCCG/AGTCCC 4 /T syn11Minor allele frequency- A:0.00NA 4552
    rs1386827011,2
    C--20355830(+) GGTCCC/TGCCCA 4 R G mis10--------
    rs1119040301,2
    C,F--20355831(+) GTCCCG/CCCCAC 4 /G syn12Minor allele frequency- C:0.00CSA NA 4554
    rs2005459571,2
    --20355885(+) GACCGA/GGCTGA 2 -- int10--------
    rs113108381,2
    C,F--20355923(+) ATCTC-/A/AA  
            
    AAAAA
    2 -- int1 trp33NA 6
    rs96462561,2
    C,F,H--20355950(+) CAGTTA/GTTTGC 2 -- int123Minor allele frequency- G:0.23NS EA NA WA 2762
    rs1851452061,2
    --20355985(+) AACCCA/GCCAAC 2 -- int10--------
    rs1417330801,2
    C--20356034(+) CTTGGG/TATCTA 2 -- int10--------
    rs99287571,2
    C,F,H--20356057(+) gctctG/Catttg 2 -- int119Minor allele frequency- C:0.10NS EA NA CSA WA 2141
    rs1462266371,2
    --20356075(+) TTGGGA/GTGGGG 2 -- int10--------
    rs1139570521,2
    C--20356103(+) TGACAAGTGC   
       CTG
    /-
    AGTGC
    2 -- int11Minor allele frequency- -:0.50CSA 2
    rs1907880831,2
    --20356202(+) CTACCC/TCTGTA 2 -- int10--------
    rs740119221,2
    C,F--20356207(+) CCTGTA/GGCTTT 2 -- int12Minor allele frequency- G:0.08WA 120
    rs1390803451,2
    --20356216(+) TTCAAA/GATGGC 2 -- int10--------
    rs358303211,2
    C--20356221(+) ATGGC-/AAAAAA 2 -- int10--------
    rs99289361,2
    C,F,A,H--20356243(+) GACAGG/AAACAC 2 -- int118Minor allele frequency- A:0.14NS EA NA WA CSA 1920
    rs1494665301,2
    --20356252(+) ACCTGG/TATTCC 2 -- int10--------
    rs748395101,2
    C,F--20356265(+) CTTTGG/ATCTCA 2 -- int11Minor allele frequency- A:0.03WA 118
    rs1438801551,2
    --20356267(+) TTGGTA/CTCAAT 2 -- int10--------
    rs1486043721,2
    --20356289(+) TAAAAA/GGTATT 2 -- int10--------
    rs47808841,2
    C,F,A,H--20356321(+) CTTGCG/ATCCTG 2 -- int120Minor allele frequency- A:0.24NS EA NA CSA WA 2344
    rs1820268091,2
    --20356339(+) TCGTGA/GTGTAC 2 -- int10--------
    rs1854184561,2
    --20356341(+) GTGATA/GTACTA 2 -- int10--------
    rs1149246811,2
    F--20356358(+) ATATCA/CGAAGA 2 -- int11Minor allele frequency- C:0.03WA 118
    rs2005436421,2
    C--20356403(-) GGCTGG/TTNNNN 2 -- int10--------
    rs1883673201,2
    --20356476(+) AATAAA/GGCACA 2 -- int10--------
    rs1807410231,2
    --20356516(+) TTTTAC/TAGATG 2 -- int10--------
    rs754596001,2
    C,F--20356564(+) TAACTC/TGAGAC 2 -- int11Minor allele frequency- T:0.13WA 118
    rs748268881,2
    F--20356629(+) GCATAC/TGCAGG 2 -- int11Minor allele frequency- T:0.02WA 118
    rs1456650481,2
    --20356772(+) CTGAGA/GTGGGA 2 -- int10--------
    rs72037181,2
    C--20356781(+) ctttcC/Tttcct 2 -- int11Minor allele frequency- T:0.50NA 2
    rs71955811,2
    C--20356824(+) tccctC/Tccttc 2 -- int10--------
    rs1477430881,2
    --20356829(+) TGCCAA/CTGCAC 2 -- int10--------
    rs1409686911,2
    --20356831(+) CCACTG/TCACTC 2 -- int10--------
    rs1448033141,2
    --20356868(+) GATTCA/GTAACA 2 -- int10--------
    rs1512835381,2
    --20356936(+) AGGCCA/GAGGAC 2 -- int10--------
    rs1405075021,2
    --20356971(+) GCTAGC/GCCAGG 2 -- int10--------
    rs601368491,2
    C,F--20357009(+) AGCACT/CCTTCT 2 -- int18Minor allele frequency- C:0.12NA WA CSA EA 368
    rs1857412961,2
    --20357010(+) GCACTA/CTTCTT 2 -- int10--------
    rs1403353091,2
    C--20357021(+) CCTCC-/AAGTCA 2 -- int10--------
    rs1909921941,2
    --20357043(+) TCATCA/TGTGCC 2 -- int10--------
    rs1838204921,2
    C--20357106(+) GCTTCA/GAAGGG 2 -- int10--------
    rs1445462031,2
    C--20357109(+) TCGAA-/GGGAAG 2 -- int10--------
    rs1504221881,2
    --20357245(+) GAATAA/GTAATA 2 -- int10--------
    rs1451977701,2
    C--20357293(+) TTTGAC/TGAGAT 2 -- int10--------
    rs1866848411,2
    --20357373(+) GGGCAC/TGGTGG 2 -- int10--------
    rs1165170971,2
    F--20357378(+) CGGTGG/ACTCAC 2 -- int11Minor allele frequency- A:0.07WA 118
    rs74987511,2
    C,F--20357474(+) AACCCT/CGTCTC 2 -- int13Minor allele frequency- C:0.33NA 6
    rs64974751,2
    C,F,A,H--20357476(+) ccccgC/Tctcta 2 -- int15Minor allele frequency- T:0.46NA CSA 13
    rs1924109081,2
    --20357515(+) GTGGTA/GGGCAC 2 -- int10--------
    rs1387559711,2
    C--20357578(+) GAGGCA/GGAGGT 2 -- int10--------
    rs1417753841,2
    --20357604(+) TCATGC/TCATTG 2 -- int10--------
    rs1839629411,2
    --20357641(+) ACTCCA/GTCTCA 2 -- int10--------
    rs1478463951,2
    C--20357645(+) GTCTC-/AATA  
            
    AATAA
    2 -- int10--------
    rs1875989511,2
    --20357651(+) AATAAA/CTAAAT 2 -- int10--------
    rs802698321,2
    --20357667(+) AATAAA/TTAAAT 2 -- int10--------
    rs1913077111,2
    --20357723(+) TGGCCC/TGTGAT 2 -- int10--------
    rs341150671,2
    C--20357777(+) AAAAA-/ATAAAA 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs740119241,2
    C,F--20357838(+) GGCACT/CCTGCC 2 -- int12Minor allele frequency- C:0.09WA 120
    rs789136731,2
    C--20357885(+) AGGAGC/TGTAAT 2 -- int10--------
    rs1820431431,2
    --20357916(+) AAATTC/TCTTTC 2 -- int10--------
    rs1134834251,2
    C--20358222(+) AAGAAAG/-AAAGA 2 -- int11Minor allele frequency- -:0.50CSA 2
    rs711491341,2
    C--20358347(+) TTTTTT/-GAGAC 2 -- int12Minor allele frequency- -:0.25NA 4
    rs2017927121,2
    C--20358503(+) TTAGAA/TCCATC 2 -- int10--------
    rs2012296851,2
    --20358580(+) TTTCAC/TGTCCA 4 M V mis10--------
    rs2003941841,2
    --20358583(+) CATGTC/TCAGGG 4 N D mis10--------
    rs1995657601,2
    C--20358713(+) TGGAGA/C/GGGGGG 2 -- int10--------
    rs1871921531,2
    --20358828(+) AAAAAA/GCTGCC 2 -- int10--------
    rs1162874681,2
    F--20358840(+) GTGGCC/TGGGCG 2 -- int11Minor allele frequency- T:0.03WA 118
    rs1180596351,2
    C,F--20358844(+) CCGGGC/TGCATT 2 -- int11Minor allele frequency- T:0.06EA 120
    rs80542961,2
    C,F--20358845(+) CGGGCG/ACATTA 2 -- int16Minor allele frequency- A:0.25NA CSA WA EA 364
    rs1926870431,2
    --20358866(+) GTAATC/TCCAGC 2 -- int10--------
    rs1480247191,2
    C--20358917(+) AGTTCA/GAGACC 2 -- int10--------
    rs342628421,2
    C,F--20359005(+) TCCCAG/ACTACT 2 -- int11Minor allele frequency- A:0.00NA 2
    rs1505237081,2
    C--20359134(+) AAAATC/TCCACA 2 -- int10--------
    rs1123967451,2
    C,F--20359299(+) AGTTCC/TTTCAG 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs116477271,2
    C,F,H--20359357(+) GACAGG/AGATTC 2 -- int127Minor allele frequency- A:0.44NS EA WA NA CSA 2764
    rs1145148191,2
    F--20359468(+) CATATG/ACCAAG 2 -- int11Minor allele frequency- A:0.03WA 118
    rs343569531,2
    C,F--20359518(+) GACATG/TAATTA 2 -- int17Minor allele frequency- T:0.18NA WA CSA 248
    rs735412991,2
    C--20359669(+) ATTACG/AGGTGC 2 -- int11Minor allele frequency- A:0.00WA 2
    rs1854345061,2
    --20359807(+) ACAGGC/TGTGAG 2 -- int10--------
    rs105687791,2
    C--20359918(+) TTTTTC/TTTTCT 2 -- int12Minor allele frequency- T:0.25NA CSA 4
    rs1998355071,2
    --20359918(+) TTTTT-/TTTTC 
            
    TTTCT
    2 -- int10--------
    rs285187751,2
    C--20359944(+) TTTCTC/TTCTCT 2 -- int11Minor allele frequency- T:0.00NA 2
    rs285320401,2
    C--20359946(+) TCTTTT/CTCTTT 2 -- int11Minor allele frequency- C:0.00NA 2
    rs1407589741,2
    C--20359962(+) TTTCT-/TTCTTCCT 2 -- int10--------
    rs71969241,2
    C--20360003(+) cttccC/Ttccct 2 -- int11Minor allele frequency- T:0.50NA 2
    rs1899089771,2
    --20360007(+) CTTCCC/TTCCCT 2 -- int10--------
    rs1930561671,2
    --20360017(+) TCCCTC/TCCTCC 2 -- int10--------
    rs1849783561,2
    --20360029(+) TCCCTC/TCCTTC 2 -- int10--------
    rs1893087841,2
    C--20360033(+) TTCCTC/TCCTTC 2 -- int10--------
    rs1808949341,2
    --20360139(+) TCCTCC/TGGTAA 2 -- int10--------
    rs1837477971,2
    C--20360144(+) TGGTAA/CTGAGG 2 -- int10--------
    rs99404491,2
    H--20360208(+) TTTGAG/TGAGGC 2 -- int14Minor allele frequency- T:0.00NS EA 418
    rs1168251571,2
    C,F--20360249(+) ATTAAG/AGATAC 2 -- int11Minor allele frequency- A:0.03WA 118
    rs1448923471,2
    --20360339(+) CCCTAC/TTATGG 2 -- int10--------
    rs1117654161,2
    C,F--20360374(+) GGAGAG/ACTATC 2 -- int12Minor allele frequency- A:0.50CSA 4
    rs129343201,2
    C,F--20360456(+) cacttC/Taacac 2 -- int19Minor allele frequency- T:0.19NA WA CSA 252
    rs1485483181,2
    --20360462(+) AACACA/GTTAAC 2 -- int10--------
    rs129344551,2
    C,F--20360482(+) cctctC/Taatac 2 -- int15Minor allele frequency- T:0.22NA 128
    rs752557291,2
    C,F--20360506(+) GTACTA/GTTATT 2 -- int11Minor allele frequency- G:0.03WA 118
    rs1428773991,2
    --20360554(+) GGCTAA/CATAAC 2 -- int10--------
    rs45069061,2
    C,F,A,H--20360599(-) TCAAGC/TTTCAG 2 -- int122Minor allele frequency- T:0.29NS EA NA CSA WA 2339
    rs1899797151,2
    C--20360645(+) AGGACA/GTACCG 2 -- int10--------
    rs2017659271,2
    --20360669(+) ACAGGA/GGCCAT 4 P S mis10--------
    rs2004149621,2
    C--20360678(+) ATCCCG/AGGCTG 4 /R /W mis11Minor allele frequency- A:0.00EU 1285
    rs1811972111,2
    C--20360683(+) GGGCTA/GGGGTC 4 P L mis10--------
    rs1468855081,2
    C,F--20360685(+) GCTGGG/AGTCAC 4 /T syn11Minor allele frequency- A:0.00NA 4508
    rs3687821911,2
    C--20360687(+) TGGGGC/TCACTA 4 T A mis10--------
    rs2017388911,2
    --20360700(+) GACACC/GCAGTC 4 C W mis10--------
    rs1510613761,2
    C,F--20360707(+) AGTCCC/TGGTTG 4 Q R mis11Minor allele frequency- T:0.00NA 4510
    rs1999260471,2
    --20360739(+) CACCGA/GCTGTC 4 S syn10--------
    rs786137131,2
    C,F--20360769(+) TTGTCG/AAAGCC 4 /F syn12Minor allele frequency- A:0.00WA NA 4670
    rs3724495731,2
    C--20360865(+) GAAACA/GGGTTA 2 -- int10--------
    rs2017989151,2
    --20360872(+) GTTAGC/GTGGGA 2 -- int10--------
    rs2007605931,2
    C--20360885(+) GAGGAC/TGTGTG 2 -- int10--------
    rs1863922551,2
    C--20360902(+) GCTTGA/GGGGCC 2 -- int10--------
    rs711491351,2
    C,F--20360993(+) CATTCCCACA   
       TTC
    /-
    AGAAA
    2 -- int13Minor allele frequency- -:0.33NA CSA 6
    rs1916379341,2
    --20361159(+) CGTTTA/TAAAAA 2 -- int10--------
    rs1435611131,2
    --20361178(+) GCTAGA/CTGCGG 2 -- int10--------
    rs601183331,2
    C--20361214(+) CCATT-/AAAAAA 2 -- int10--------
    rs1813841401,2
    --20361249(+) CAGAGG/TTCAAT 2 -- int10--------
    rs1156122781,2
    F--20361280(+) AATACG/ACATCT 2 -- int11Minor allele frequency- A:0.07WA 118
    rs1141122671,2
    C,F--20361283(+) ACGCAT/CCTCCC 2 -- int12Minor allele frequency- C:0.07WA NA 238
    rs1150152221,2
    C,F--20361379(+) TAGAAC/TGTGAA 2 -- int11Minor allele frequency- T:0.08WA 118
    rs1475027381,2
    C--20361407(+) AAGAG-/AGA   
       AAGAA
    AGAAA
    2 -- int10--------
    rs1499733711,2
    C--20361407(+) AAGAG-/AGAAAGA
    AAGAAAGAA
    AGAAA
    2 -- int10--------
    rs99280031,2
    C,F,H--20361449(+) AAGCAA/CGCTGc 2 -- int111Minor allele frequency- C:0.08EA NS NA WA CSA 536
    rs1862584821,2
    --20361459(+) CAATTA/TCTTTC 2 -- int10--------
    rs772255261,2
    C,F--20361558(+) TTTTGA/TGACGG 2 -- int12Minor allele frequency- T:0.04WA 120
    rs1467659521,2
    --20361576(+) CTCTTC/TGGCGA 2 -- int10--------
    rs72034511,2
    C,F,A,H--20361577(+) tcttcG/Agcgac 2 -- int110Minor allele frequency- A:0.37NA WA CSA EA 373
    rs116431331,2
    C,F,H--20361579(+) ttcggA/C/Tgacaa 2 -- int12NA WA 122
    rs1143337991,2
    C,F--20361605(+) CAGAGG/ATGCCA 2 -- int11Minor allele frequency- A:0.12WA 118
    rs116432461,2
    C,H--20361671(+) ctcccG/Aagtag 2 -- int11Minor allele frequency- A:0.25NA 4
    rs587688741,2
    C--20361726(+) TTTTTA/TGTAGA 2 -- int10--------
    rs1908676751,2
    --20361828(+) GGCATA/GAGCCA 2 -- int10--------
    rs72042101,2
    C,F,A,H--20361885(+) gggctC/Gagagt 2 -- int113Minor allele frequency- G:0.25NA WA CSA EA 378
    rs1823421881,2
    --20362028(+) ACCTTC/TTTTTC 2 -- int10--------
    rs778104191,2
    F--20362223(+) TGCCAA/GTTGTA 2 -- int11Minor allele frequency- G:0.01WA 118
    rs286402181,2
    C,F--20362468(+) ACGTGG/TGTGCC 2 -- int111Minor allele frequency- T:0.22NA WA CSA EA 374
    rs771711101,2
    C,F--20362495(+) TCAGAA/GAGAAG 2 -- int11Minor allele frequency- G:0.01EA 120
    rs746576691,2
    C--20362704(+) GCAGTG/AACAGG 2 -- int12Minor allele frequency- A:0.10CSA WA 120
    rs2005718531,2
    --20362718(+) CTCAAA/CAACCC 2 -- int10--------
    rs285444231,2
    C,F--20362834(+) CACGTC/TCCCTC 4 G syn1 ese310Minor allele frequency- T:0.16NA WA CSA EU 6124
    rs1490748661,2
    C--20362883(+) ACAATA/CAATAA 2 -- int10--------
    rs801426721,2
    C--20362924(+) CCAGGC/TCTGGG 2 -- int13Minor allele frequency- T:0.08CSA WA EA 240
    rs786912031,2
    C,F--20362984(+) CACTCG/AGGGGG 4 /P syn13Minor allele frequency- A:0.02WA NA EU 4727
    rs1413838441,2
    C--20363008(+) TAGACG/TTAGTA 4 * Y stg11Minor allele frequency- T:0.00NA 3326
    rs133358181,2
    C,F,H--20363032(+) GCCTTC/TACCTG 4 V syn123Minor allele frequency- T:0.14NS EA NA CSA WA EU 5895
    rs1875553781,2
    C--20363286(+) GTCCAC/GGGTGC 4 L V mis10--------
    rs71930581,2
    C,F,A--20363302(+) GCCTGA/GCACGG 4 C syn1 ese310Minor allele frequency- G:0.43NA WA CSA EA 374
    rs1998353471,2
    C--20363399(+) CCCCCC/TGGTAG 4 Q R mis10--------
    rs1439656811,2
    C,F--20363491(+) GCGCAC/TTCATC 4 E syn11Minor allele frequency- T:0.00NA 3262
    rs778754181,2
    C,F--20363560(+) AAGGAG/ACCTGG 4 /G syn13Minor allele frequency- A:0.02WA EA NA 4348
    rs1432481111,2
    C--20363640(+) GCAGGT/GCAGGC 4 /T /P mis1