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

NPEPPS Gene

protein-coding   GIFtS: 64
GCID: GC17P045608

Aminopeptidase Puromycin Sensitive

Microbiology & Infectious Diseases Congress
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at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Aminopeptidase Puromycin Sensitive1 2     MP1002 5
PSA2 3 5     EC 3.4.11.143
Metalloproteinase MP1001 2     EC 3.4.118
Puromycin-Sensitive Aminopeptidase1 2     EC 3.4.11.28
Cytosol Alanyl Aminopeptidase2 3     EC 3.4.11.38
AAP-S2 3     

External Ids:    HGNC: 79001   Entrez Gene: 95202   Ensembl: ENSG000001412797   OMIM: 6067935   UniProtKB: P557863   

Export aliases for NPEPPS gene to outside databases

Previous GC identifers: GC17P035973 GC17P048089 GC17P045950 GC17P046083 GC17P042963 GC17P041029


(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 NPEPPS Gene:
This gene encodes the puromycin-sensitive aminopeptidase, a zinc metallopeptidase which hydrolyzes amino acids
from the N-terminus of its substrate. The protein has been localized to both the cytoplasm and to cellular
membranes. This enzyme degrades enkaphalins in the brain, and studies in mouse suggest that it is involved in
proteolytic events regulating the cell cycle. (provided by RefSeq, Jul 2008)

GeneCards Summary for NPEPPS Gene: 
NPEPPS (aminopeptidase puromycin sensitive) is a protein-coding gene. Diseases associated with NPEPPS include high pressure neurological syndrome, and tauopathy, and among its related super-pathways are Class I MHC mediated antigen processing & presentation and Immune System. GO annotations related to this gene include aminopeptidase activity and metalloendopeptidase activity. An important paralog of this gene is LNPEP.

UniProtKB/Swiss-Prot: PSA_HUMAN, P55786
Function: Aminopeptidase with broad substrate specificity for several peptides. Involved in proteolytic events
essential for cell growth and viability. May act as regulator of neuropeptide activity. Plays a role in the
antigen-processing pathway for MHC class I molecules. Involved in the N-terminal trimming of cytotoxic T-cell
epitope precursors. Digests the poly-Q peptides found in many cellular proteins. Digests tau from normal brain
more efficiently than tau from Alzheimer disease brain

Gene Wiki entry for NPEPPS 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NPEPPS gene promoter:
         Sp1   Pax-5   Meis-1b   FOXL1   Egr-4   GATA-1   MEF-2A   Msx-1   aMEF-2   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNPEPPS promoter sequence
   Search SABiosciences Chromatin IP Primers for NPEPPS

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


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

Entrez Gene cytogenetic band: 17q21   Ensembl cytogenetic band:  17q21.32   HGNC cytogenetic band: 17q12-q21

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P045608:  view genomic region     (about GC identifiers)

Start:
45,600,306 bp from pter      End:
45,700,642 bp from pter
Size:
100,337 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PSA_HUMAN, P55786 (See protein sequence)
Recommended Name: Puromycin-sensitive aminopeptidase  
Size: 919 amino acids; 103276 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subunit: Monomer
Subcellular location: Cytoplasm, cytosol. Nucleus (Potential)
Caution: It is uncertain whether Met-1 or Met-45 is the initiator. N-terminal sequencing in PubMed:10978616
suggests that Met-45 is used, followed by methionine initiator removal
Sequence caution: Sequence=AAH65294.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAA68964.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q6P145 Q9NP16 Q9UEM2

Explore the universe of human proteins at neXtProt for NPEPPS: NX_P55786

Explore proteomics data for NPEPPS at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P55786

  • 4/6 DME Specific Peptides for NPEPPS (P55786) (see all 6)
     WLNEGFA  STYLVAF  WFGNLVT  GAMENWG 

    NPEPPS Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NPEPPS Protein Expression
    REFSEQ proteins: NP_006301.3  
    ENSEMBL proteins: 
     ENSP00000437019   ENSP00000433287   ENSP00000433735   ENSP00000434554   ENSP00000320324  
     ENSP00000434585   ENSP00000433649   ENSP00000435639   ENSP00000436733   ENSP00000435966  
     ENSP00000432127   ENSP00000433549   ENSP00000442461  
    Reactome Protein details: P55786
    Human Recombinant Protein Products for NPEPPS: 
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    Novus Biologicals NPEPPS Protein
    Novus Biologicals NPEPPS Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005829cytosol TAS--

    NPEPPS for ontologies           About GeneDecksing



    NPEPPS Antibody Products: 
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    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: Puromycin-sensitive aminopeptidase 
    Aminopeptidases

    4 InterPro protein domains:
     IPR014782 Peptidase_M1_N
     IPR024571 DUF3358
     IPR015568 Peptidase_M1_puromycin-sens
     IPR001930 Peptidase_M1

    Graphical View of Domain Structure for InterPro Entry P55786

    ProtoNet protein and cluster: P55786

    1 Blocks protein domain: IPB001930 Membrane alanyl dipeptidase (M1) family signature

    UniProtKB/Swiss-Prot: PSA_HUMAN, P55786
    Similarity: Belongs to the peptidase M1 family


    NPEPPS 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PSA_HUMAN, P55786
    Function: Aminopeptidase with broad substrate specificity for several peptides. Involved in proteolytic events
    essential for cell growth and viability. May act as regulator of neuropeptide activity. Plays a role in the
    antigen-processing pathway for MHC class I molecules. Involved in the N-terminal trimming of cytotoxic T-cell
    epitope precursors. Digests the poly-Q peptides found in many cellular proteins. Digests tau from normal brain
    more efficiently than tau from Alzheimer disease brain
    Catalytic activity: Release of an N-terminal amino acid, preferentially alanine, from a wide range of peptides,
    amides and arylamides
    Enzyme regulation: Strongly inhibited by bestatin, leuhistin, actinonin, amastatin, 1,10-phenanthroline, DFP,
    PCMBS, Zn(2+), Cd(2+), Co(2+), Cu(2+), Hg(2+), EDTA and puromycin. Not inhibited by PMSF, and only slightly
    inhibited by leupeptin and aprotinin. Activity is increased by Mg(2+) and Ca(2+)
    Biophysicochemical properties: Kinetic parameters: KM=2.20 mM for Lys-p-NA; KM=0.25 mM for Leu-p-NA; KM=0.27 mM
    for Ala-p-NA; KM=0.80 mM for Met-p-NA; KM=0.47 mM for Pro-p-NA; KM=0.21 mM for Val-p-NA; KM=182 uM for Ala-MCA;
    KM=189 uM for Met-MCA; KM=220 uM for Lys-MCA; KM=91 uM for Leu-MCA; KM=167 uM for Phe-MCA; pH dependence: Optimum
    pH is 7.5. Stable from pH 5.0 to 8.0; Temperature dependence: Stable up to 40 degrees Celsius;

         Genatlas biochemistry entry for NPEPPS:
    aminopeptidase puromycin sensitive,expressed in the brain (most abundant aminopeptidase),localized in cortical and
    cerebellar neurons,putatively contributing to the degradation of enkephalins

         Enzyme Numbers (IUBMB): EC 3.4.11.32 EC 3.4.11.141 EC 3.4.11.22 EC 3.4.112

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004177aminopeptidase activity IEA--
    GO:0008237metallopeptidase activity IEA--
    GO:0008270zinc ion binding IEA--
         
    NPEPPS for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NPEPPS:
     Increased gamma-H2AX phosphory 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Npepps):
     behavior/neurological  endocrine/exocrine gland  growth/size  homeostasis/metabolism  immune system 
     integument  mortality/aging  reproductive system 

    NPEPPS for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for NPEPPS 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NPEPPS 
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    miRNA
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    8/56 QIAGEN miScript miRNA Assays for microRNAs that regulate NPEPPS (see all 56):
    hsa-miR-1197 hsa-miR-513a-5p hsa-miR-128 hsa-miR-3653 hsa-miR-138-2* hsa-miR-4274 hsa-miR-489 hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidNPEPPS 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NPEPPS
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: NPEPPS (NM_006310)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPEPPS


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NPEPPS About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Antigen processing: Ubiquitination & Proteasome degradation
    Antigen processing: Ubiquitination & Proteasome degradation0.83
    Class I MHC mediated antigen processing & presentation0.83
    2Immune System
    Immune System0.56
    Adaptive Immune System0.56
    3Selected targets of GCR-alpha
    Selected targets of GCR-alpha

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for NPEPPS
        Selected targets of GCR-alpha


    4        Reactome Pathways for NPEPPS
        Antigen processing: Ubiquitination & Proteasome degradation
    Adaptive Immune System
    Class I MHC mediated antigen processing & presentation
    Immune System



    NPEPPS for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NPEPPS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/117 Interacting proteins for NPEPPS (P557861, 3 ENSP000003203244) via UniProtKB, MINT, STRING, and/or I2D (see all 117)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000209protein polyubiquitination TAS--
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--
    GO:0006508proteolysis IEA--
    GO:0071456cellular response to hypoxia IDA--

    NPEPPS for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NPEPPS for compounds           About GeneDecksing

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

    Browse Tocris compounds for NPEPPS (PSA)

    6 Novoseek inferred chemical compound relationships for NPEPPS gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thimet 76 2 14734113 (1)
    puromycin 74.8 21 17154549 (4), 9244402 (3), 11082703 (2), 20377816 (2) (see all 6)
    bestatin 72.5 2 11082703 (1)
    bleomycin 55.3 6 15187416 (1), 12200051 (1), 14734113 (1), 16455981 (1)
    leucine 35.1 3 15187416 (1), 16455981 (1)
    glutamine 12.4 4 17318184 (2), 12729622 (1)

    Search CenterWatch for drugs/clinical trials and news about NPEPPS / PSA

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NPEPPS gene: 
    NM_006310.3  

    Unigene Cluster for NPEPPS:

    Aminopeptidase puromycin sensitive
    Hs.443837  [show with all ESTs]
    Unigene Representative Sequence: NM_006310
    18/27 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27):
    ENST00000527200 ENST00000525007 ENST00000525037(uc010dba.1) ENST00000528751
    ENST00000530173 ENST00000526247 ENST00000532729 ENST00000322157(uc010wkt.2 uc002ilr.4 uc010wku.2 uc010wkv.2)
    ENST00000533573 ENST00000527298 ENST00000534691 ENST00000602788 ENST00000527824
    ENST00000534727 ENST00000534814 ENST00000525401 ENST00000527964 ENST00000530514

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

    miRNA
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    8/56 QIAGEN miScript miRNA Assays for microRNAs that regulate NPEPPS (see all 56):
    hsa-miR-1197 hsa-miR-513a-5p hsa-miR-128 hsa-miR-3653 hsa-miR-138-2* hsa-miR-4274 hsa-miR-489 hsa-miR-29a*
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    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPEPPS
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NPEPPS
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NPEPPS

    Additional mRNA sequence: 

    AJ132583.1 AK095877.1 AK096491.1 AK096709.1 AK293450.1 AK293995.1 AK296887.1 AK297107.1 
    AK303037.1 BC065294.1 BC067792.1 NR_036750.1 XR_172201.1 

    24/37 DOTS entries (see all 37):

    DT.85104799  DT.91934981  DT.100810296  DT.100824478  DT.70101756  DT.91811703  DT.102843581  DT.100727004 
    DT.100824472  DT.40117560  DT.120896689  DT.91883443  DT.100640887  DT.120896634  DT.86835850  DT.120896722 
    DT.419664  DT.91982917  DT.97864464  DT.99987084  DT.100809252  DT.100824473  DT.120896643  DT.120896678 

    24/558 AceView cDNA sequences (see all 558):

    BM474975 BM678027 BM750492 BU618303 AW249850 AW572592 AL134687 BM676084 
    AW161660 F04707 BQ937998 BP375065 AI201527 AA379056 AU130524 AI922696 
    AA551216 BE467460 AW515849 NM_006310 AA527546 BU159521 AI371747 BG764490 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for NPEPPS    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^
    SP1:                                                                          -                       -                                               -     -   
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                  -         
    SP4:                                                                                                                                                            

    ExUns: 23 ^ 24a · 24b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  


    ECgene alternative splicing isoforms for NPEPPS

    (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

    NPEPPS expression in normal human tissues (normalized intensities)      NPEPPS embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTAGGAAAGC
    NPEPPS Expression
    About this image


    NPEPPS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/18 selected tissues (see all 18) fully expand
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Lung (Respiratory System)
             Trachea
     
     Spinal Cord (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Lower Urinary Tract (Urinary System)
             visceral organ   

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

    SOURCE GeneReport for Unigene cluster: Hs.443837

    UniProtKB/Swiss-Prot: PSA_HUMAN, P55786
    Tissue specificity: Detected in liver, epithelium of renal tubules, epithelium of small and large intestine,
    gastric epithelial cells, and alveoli of the lung (at protein level)

        SABiosciences Custom PCR Arrays for NPEPPS
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for NPEPPS
    OriGene qSTAR qPCR primer pairs in human, mouse for NPEPPS
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NPEPPS
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NPEPPS
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NPEPPS
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPEPPS

    (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 eukaryotes.

    Orthologs for NPEPPS gene from 10/26 species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Npepps1 , 5 aminopeptidase puromycin sensitive1, 5 93.28(n)1
    97.71(a)1
      11 (60.95 cM)5
    191551  NM_008942.21  NP_032968.21 
     972058425 
    chicken
    (Gallus gallus)
    Aves NPEPPS1 aminopeptidase puromycin sensitive 84.31(n)
    91.84(a)
      426231  XM_001234985.2  XP_001234986.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    91(a)
    1 → many
    6(74082401-74177355)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA987419.12   -- 77.26(n)    CA987419.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC055665.12   -- 76.64(n)    BC055665.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Psa1 , 3 cytosol alanyl aminopeptidase3
    Puromycin sensitive aminopeptidase1
    56(a)
    (best of 3)3
    56.59(n)1
    56.98(a)1
      381751  NM_167887.21  NP_728618.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F49E8.33
    pam-11
    Protein PAM-11 39(a)
    (best of 5)3
    49.84(n)1
    39.84(a)1
      IV(7544328-7547304)3
    1775281  NM_001028039.11  NP_001023210.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AAP1(YHR047C)4
    APE21
    Arginine/alanine aminopeptidase, overproduction stimulates more4
    Ape2p1
    47.14(n)1
    36.75(a)1
      8(201310-198740)4
    8536991  NP_012765.31  8564434 
     NP_011913.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons APM11 aminopeptidase M1 53.2(n)
    47.4(a)
      829446  NM_119463.4  NP_195035.2 
    rice
    (Oryza sativa)
    Liliopsida AK120068.12   -- 75.43(n)    AK120068.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NPEPPS gene
    LNPEP2  ENPEP2  ANPEP2  TRHDE2  ERAP12  AQPEP2  ERAP22  
    8 SIMAP similar genes for NPEPPS using alignment to 13 protein entries:     PSA_HUMAN (see all proteins):
    NPEPPSL1    TBC1D3    ANPEP    TRHDE    ENPEP    LNPEP
    ERAP2    ERAP1

    NPEPPS for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for NPEPPS
    PGOHUM00000258041 PGOHUM00000258042


    (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) 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

    1533/1709 SNPs in NPEPPS are shown (see all 1709)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1814450841,2
    --45606581(+) ACTTTA/GAATAA 1 -- us2k10--------
    rs98911181,2
    C,A,H--45606584(+) TTAAAA/G/TAACAT 1 -- us2k15NA WA 14
    rs26119881,2
    C,H--45606594(-) AATTTA/TAAAAA 1 -- us2k10--------
    rs794814291,2
    F--45606809(+) GTTGTA/CGCCCA 1 -- us2k11Minor allele frequency- C:0.00NA 2
    rs2000296081,2
    C--45607102(+) GTTACA/TTTATA 1 -- us2k10--------
    rs2011055901,2
    C--45607103(+) TTACAA/TTATAT 1 -- us2k10--------
    rs1865646531,2
    --45607167(+) AAGGTA/GTCTAC 1 -- us2k10--------
    rs2005383591,2
    C--45607285(+) CCCAT-/TTTA  
            
    TTTAT
    1 -- us2k10--------
    rs1910746351,2
    --45607312(+) TATTTA/TTTTAT 1 -- us2k10--------
    rs1828670801,2
    --45607316(+) TATTTA/TTTTTG 1 -- us2k10--------
    rs3704068631,2
    C--45607468(+) CGGCT-/TTTTTT 1 -- us2k10--------
    rs29351841,2
    --45607528(-) ttcaaG/Caccag 1 -- us2k11Minor allele frequency- C:0.00NA 2
    rs38749101,2
    C,F--45607563(+) ctcggC/Tctccc 1 -- us2k12Minor allele frequency- T:0.50NA 4
    rs29351831,2
    C--45607572(-) cagcaA/Ctttgg 1 -- us2k10--------
    rs80653441,2
    C,F,H--45607608(+) ccgCCC/TGAAAC 1 -- us2k13Minor allele frequency- T:0.09NS 606
    rs1117493491,2
    C,F--45607768(+) CCCAGG/ACTGGA 1 -- us2k12Minor allele frequency- A:0.50WA NA 4
    rs1513018021,2
    --45608010(+) GAGACA/GCTGCG 1 -- us2k10--------
    rs1875369841,2
    --45608088(+) TAAGGA/CCAGAG 1 -- us2k10--------
    rs80774851,2
    C--45608326(+) CCTCCA/CGCCCT 1 -- us2k10--------
    rs1423589281,2
    --45608592(+) CTAGCG/TCTCCG 1 -- ut510--------
    rs2012123901,2
    C,F--45608885(+) CTGGAC/TTTCAC 2 D syn11Minor allele frequency- T:0.08EU 577
    rs620739681,2
    C--45609270(+) AGTGTG/TCCGGG 1 -- int10--------
    rs739851671,2
    C--45609454(+) AGAAGA/C/G/
            
    GGGGG
    1 -- int11WA 2
    rs1146966621,2
    F--45609478(+) CGAGAA/TTGTTA 1 -- int11Minor allele frequency- T:0.01WA 118
    rs1416742001,2
    C--45609715(+) CTTAGC/TAGTAC 1 -- int10--------
    rs1505428391,2
    C--45609730(+) CTCTCC/TCAAGA 1 -- int10--------
    rs1394597571,2
    --45609750(+) GGCGCA/GGTGGC 1 -- int10--------
    rs1822242861,2
    --45609914(+) ACTCGA/GGGGCT 1 -- int10--------
    rs1875411111,2
    --45610070(+) TAGTTA/GTAACA 1 -- int10--------
    rs1925814021,2
    --45610129(+) ATCATA/GCTCCA 1 -- int10--------
    rs1850295951,2
    C--45610269(+) GAACTA/GTTTGA 1 -- int10--------
    rs1887893411,2
    --45610344(+) GGGGTC/GGGGGG 1 -- int10--------
    rs26443331,2
    --45610412(-) AGCACA/CAGTCT 1 -- int10--------
    rs1445785901,2
    C--45610882(+) AAAAA-/CATTTG 1 -- int10--------
    rs1850719531,2
    --45611016(+) TAAGTA/GTCGGG 1 -- int10--------
    rs1891351821,2
    --45611074(+) TTGTGA/GAAGAC 1 -- int10--------
    rs1807044941,2
    --45611173(+) AATAAA/GTTTTT 1 -- int10--------
    rs26119751,2
    --45611178(-) ACttaA/Caaaat 1 -- int10--------
    rs1893617591,2
    --45611257(+) CACAAC/TAGTGA 1 -- int10--------
    rs1819752581,2
    --45611359(+) GAAGTA/GAAAAG 1 -- int10--------
    rs1866955311,2
    --45611405(+) CAATAC/TGTTTA 1 -- int10--------
    rs1920051741,2
    --45611418(+) TTGTGA/GCATTA 1 -- int10--------
    rs1812775541,2
    --45611580(+) AGCCTC/GCCAAG 1 -- int10--------
    rs80798211,2
    C,F,A,H--45611704(+) cctccT/Caaaga 1 -- int14Minor allele frequency- C:0.44NA CSA 9
    rs1457968371,2
    --45611708(+) CTAAAC/GAGCTG 1 -- int10--------
    rs1428599281,2
    --45611820(+) CATAAC/TACAAA 1 -- int10--------
    rs1863280491,2
    --45612026(+) CCTGCC/TGGGTT 1 -- int10--------
    rs1901077021,2
    --45612062(+) CCTGGA/GTAGCT 1 -- int10--------
    rs1821059591,2
    --45612473(+) GCGTGA/GTGGCG 1 -- int10--------
    rs1867020981,2
    --45612482(+) CGGGAC/GCCTGT 1 -- int10--------
    rs1503853271,2
    --45612567(+) TTGCGC/TCACTG 1 -- int10--------
    rs1908255681,2
    C--45612842(+) AACCCA/GGGAGG 1 -- int10--------
    rs357946721,2
    F--45612906(+) GCGAGG/ACTCCG 1 -- int12Minor allele frequency- A:0.25NA 4
    rs620739701,2
    C--45613021(+) TTATTT/ACATTC 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1841609221,2
    --45613350(+) GGCACA/GCGCCG 1 -- int10--------
    rs1883643271,2
    --45613410(+) ATATTA/GGCCAG 1 -- int10--------
    rs1931946301,2
    C--45613462(+) TCCCAA/CAGTGT 1 -- int10--------
    rs1123193131,2
    C--45613491(+) CCACCG/ATGCCC 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs1852087291,2
    --45613590(+) ACCCCG/TGGCCT 1 -- int10--------
    rs1416391861,2
    --45613598(+) CCTCTA/GCTAAC 1 -- int10--------
    rs733261041,2
    C--45613643(+) TAAGTG/AAATAG 1 -- int11Minor allele frequency- A:0.50WA 2
    rs722077501,2
    C--45613753(+) TTCTC-/TCTTTTTT 1 -- int10--------
    rs65049961,2
    C,A,H--45613754(+) tctctC/Tttttt 1 -- int1 trp30--------
    rs1391129081,2
    C--45613797(+) CTTGTC/TGCACA 1 -- int10--------
    rs1422325221,2
    --45613827(+) GATCTC/TGGCTC 1 -- int10--------
    rs1122077281,2
    C,F--45613828(+) ATCTCG/AGCTCA 1 -- int11Minor allele frequency- A:0.50NA 2
    rs1393574571,2
    --45613846(+) CTCTGA/CCCCCC 1 -- int10--------
    rs72191731,2
    C,F,A--45613995(+) acctcC/Tggtga 1 -- int14Minor allele frequency- T:0.50NA WA 8
    rs1869946381,2
    --45614034(+) GGGATG/TATGGG 1 -- int10--------
    rs1453585251,2
    C--45614039(+) TATGGG/TCGTGA 1 -- int10--------
    rs1407854411,2
    --45614059(+) CCACCA/GTGCCT 1 -- int10--------
    rs1447357771,2
    --45614180(+) TCAAGC/TGTTTC 1 -- int10--------
    rs1436002391,2
    --45614368(+) GCCACC/TGTGCC 1 -- int10--------
    rs360072601,2
    --45614414(+) TGGCCA/GACACT 1 -- int10--------
    rs1836705081,2
    --45614473(+) ATTGCC/TTGAGC 1 -- int10--------
    rs614259451,2
    C--45614528(+) AAAAA-/AGGAAG 1 -- int10--------
    rs1501276321,2
    C--45614729(+) GATAAC/TTGAAG 1 -- int10--------
    rs118697301,2
    C,H--45614763(+) ATTTTA/TAAAAA 1 -- int10--------
    rs1416017131,2
    --45614919(+) CCGGGC/TGTGGT 1 -- int10--------
    rs1996008061,2
    C--45614934(+) CATGC-/CTGTAAT 1 -- int10--------
    rs1884253941,2
    --45614984(+) AACTCA/GGGAAG 1 -- int10--------
    rs1818672691,2
    --45615008(+) GTTGCA/GGTGAG 1 -- int10--------
    rs1858842181,2
    --45615053(+) CACAGC/TGAGAC 1 -- int10--------
    rs1899618391,2
    --45615155(+) TGTAGG/TTTTGT 1 -- int10--------
    rs1453865651,2
    C--45615172(+) GTTTTA/TTTTAA 1 -- int10--------
    rs285015321,2
    C,H--45615193(+) TTATTC/TTGAAC 1 -- int14Minor allele frequency- T:0.01NS NA CSA 182
    rs39683051,2
    C--45615485(+) AACTCC/GTGACC 1 -- int10--------
    rs790256091,2
    F--45615544(+) GTGAGG/CCACCG 1 -- int11Minor allele frequency- C:0.50NA 2
    rs1868434211,2
    --45615555(+) CGCCTA/GGCCAT 1 -- int10--------
    rs774782121,2
    C--45615649(+) GATCTC/TGGCTC 1 -- int10--------
    rs1499721271,2
    C--45615666(+) ACCTCC/TACTTC 1 -- int10--------
    rs1899642221,2
    --45615699(+) CCTCAC/GCCTCC 1 -- int10--------
    rs1813032881,2
    C--45615721(+) GATTAC/GAGGTG 1 -- int10--------
    rs2004559831,2
    C--45615743(+) CCTGG-/ACTAAT 1 -- int10--------
    rs791328881,2
    C--45615824(+) ATCCGA/CCTGCC 1 -- int10--------
    rs1132321011,2
    C--45615865(+) ATGAAC/TCACCG 1 -- int10--------
    rs1898962761,2
    --45615870(+) CCACCA/GCGCCT 1 -- int10--------
    rs1838252781,2
    --45616092(+) GGTTTC/TACCAT 1 -- int10--------
    rs44977391,2
    C,F,H--45616332(+) CTTAGT/CAGCCA 1 -- int17Minor allele frequency- C:0.36NS EA NA WA 418
    rs28735571,2
    C,F,H--45616430(+) GTACGG/AACTTT 1 -- int111Minor allele frequency- A:0.09NS EA NA WA 1116
    rs1118892801,2
    C--45616461(+) TCATCC/TAGGCC 1 -- int11Minor allele frequency- T:0.50WA 2
    rs2000845231,2
    C--45616483(+) TTTTTC/TTTTTT 1 -- int10--------
    rs2011980251,2
    C--45616490(+) TTTTTC/TTTTTT 1 -- int10--------
    rs26443521,2
    C--45616499(+) TTAGCC/TTCCTG 1 -- int11Minor allele frequency- T:0.50WA 2
    rs351521111,2
    C--45616524(+) TGATA-/CTCTGAT 1 -- int10--------
    rs1872207711,2
    --45616688(+) TGTTAA/GCTGAG 1 -- int10--------
    rs1128139611,2
    C--45616720(+) GATTTC/TGTTTT 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1475119711,2
    --45616786(+) AAATTC/TTATTT 1 -- int10--------
    rs604763851,2
    C,F--45616795(+) TTTAAA/GTTAGG 1 -- int12Minor allele frequency- G:0.14WA EA 238
    rs112997871,2
    C--45616895(+) TTTTT-/GGGGGG 1 -- int1 trp30--------
    rs1135738141,2
    C,F--45616921(+) AGATAC/TCACTA 1 -- int12Minor allele frequency- T:0.50WA NA 4
    rs26119611,2
    C,F--45616933(-) GGAAAT/CGGGCT 1 -- int14Minor allele frequency- C:0.25NA WA 8
    rs26119601,2
    C--45617011(-) TATACG/ATAGGA 1 -- int11Minor allele frequency- A:0.50NA 2
    rs1388077071,2
    --45617103(+) TAATTA/GTTTTT 1 -- int10--------
    rs1919771701,2
    C--45617505(+) CAAGCG/TGCCTC 1 -- int10--------
    rs26119581,2
    C,F--45617817(-) ATTTCC/TCACCT 1 -- int12Minor allele frequency- T:0.50WA NA 4
    rs1393041451,2
    --45617911(+) CATACA/TCTTAT 1 -- int10--------
    rs1475016441,2
    --45617955(+) GTAGTA/GCACAT 1 -- int10--------
    rs1835592461,2
    --45617970(+) TGATAC/TCCAAA 1 -- int10--------
    rs1875767211,2
    --45617974(+) ATCCAA/GAGTGC 1 -- int10--------
    rs1162974831,2
    F--45618120(+) ATTAAG/CTGATG 1 -- int11Minor allele frequency- C:0.03WA 118
    rs1917318441,2
    --45618392(+) AGTTTC/TCCTTA 1 -- int10--------
    rs1464814851,2
    --45618467(+) CAAATA/GCTTTC 1 -- int10--------
    rs1115058511,2
    C,F--45618477(+) CTCTCG/AAATGG 1 -- int12Minor allele frequency- A:0.50WA NA 4
    rs1827869371,2
    C--45618601(+) AAAGTG/TTGGTT 1 -- int10--------
    rs118705851,2
    C,H--45618812(+) ATTTCA/GGCTCA 1 -- int13Minor allele frequency- G:0.17NA 6
    rs26119551,2
    --45618887(-) caggcA/Gcctgt 1 -- int10--------
    rs1418199211,2
    --45619034(+) TCGTGC/GCCAGC 1 -- int10--------
    rs2007900941,2
    C--45619327(+) CTTTGC/TAATTT 1 -- int10--------
    rs1928020701,2
    --45619612(+) TTTTTA/TAAAAA 1 -- int10--------
    rs1843498841,2
    --45619703(+) AGGTCA/GGGAGT 1 -- int10--------
    rs1421449271,2
    --45619760(+) ATACAA/GAATTT 1 -- int10--------
    rs1511956581,2
    C--45619775(+) GGCGTA/GGTGGC 1 -- int10--------
    rs1395277421,2
    --45619801(+) CAGCTA/GCTAGG 1 -- int10--------
    rs50264151,2
    C--45619977(+) CATAGT/CGATAA 1 -- int11Minor allele frequency- C:0.00NA 2
    rs1168485551,2
    C,F--45620037(+) GCACAG/TCTTCC 1 -- int11Minor allele frequency- T:0.03EA 120
    rs50264111,2
    C--45620056(+) TGCTAT/CACTTA 1 -- int11Minor allele frequency- C:0.00NA 2
    rs1905130611,2
    --45620091(+) TGATTC/TAGGGC 1 -- int10--------
    rs620739721,2
    --45620171(+) AACAAA/CAAAAT 1 -- int10--------
    rs620739731,2
    --45620173(+) CAACAA/CAATAA 1 -- int10--------
    rs620739741,2
    C--45620240(+) TGGCTC/GACGTC 1 -- int10--------
    rs1492217141,2
    --45620249(+) TCTGTA/GATCTC 1 -- int10--------
    rs1931123751,2
    --45620334(+) CCCATC/TTCTAC 1 -- int10--------
    rs1842751781,2
    --45620383(+) CTGTAA/GTCCCA 1 -- int10--------
    rs1890419821,2
    --45620457(+) AAGATC/GGCAAG 1 -- int10--------
    rs1811856211,2
    --45620480(+) GCACTC/GCATCC 1 -- int10--------
    rs1483568141,2
    C--45620497(+) AGAGAA/GCNNNN 1 -- int10--------
    rs1122061551,2
    C,F--45620584(+) ATGGCG/ACGCAC 1 -- int13Minor allele frequency- A:0.09WA CSA 122
    rs1856295391,2
    --45620589(+) GCGCAC/TACACA 1 -- int10--------
    rs1129920961,2
    C,F--45620614(+) GATGCG/ATAGTA 1 -- int12Minor allele frequency- A:0.50WA NA 4
    rs1125667121,2
    C,F--45620674(+) CAGTAC/AAAAAA 1 -- int12Minor allele frequency- A:0.50WA NA 4
    rs1116090851,2
    C--45620679(+) TTTTTT/-AAATT 1 -- int11Minor allele frequency- -:0.00CSA 2
    rs1996113331,2
    --45620690(+) TTTTT-/TTTTA 
            
    AATTT
    1 -- int10--------
    rs1130483011,2
    C--45620741(+) GTGCAA/GTGGCT 1 -- int10--------
    rs26119541,2
    C,F--45620749(-) CTAGAC/TTGAGC 1 -- int12Minor allele frequency- T:0.50WA NA 4
    rs26119531,2
    C,F--45620773(-) CCAGGC/TAGTGG 1 -- int12Minor allele frequency- T:0.50WA NA 4
    rs3772646561,2
    C--45620829(+) CAGGCA/GGCACC 1 -- int10--------
    rs1395964061,2
    C--45620924(+) CTGACC/TTCAAG 1 -- int10--------
    rs26637261,2
    C,F--45621031(-) ctttaG/Atattt 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1129792391,2
    C--45621202(+) TCTCTA/CATGTG 1 -- int10--------
    rs1499497021,2
    C--45621257(+) GTTTG-/TTTGT 
     TTGTTTA
    TTTAT
    1 -- cds10--------
    rs2009502501,2
    C--45621258(+) GTTTG-/TTTA  
            
    TTTAT
    1 -- int10--------
    rs124517661,2
    C,F,H--45621261(+) tgtttG/Atttat 1 -- int13Minor allele frequency- A:0.50NA WA 8
    rs575440921,2
    C,F--45621265(+) TATTTG/ATTTAT 1 -- int12Minor allele frequency- A:0.33NA 6
    rs124517671,2
    C,H--45621269(+) tatttA/Gtttat 1 -- int12Minor allele frequency- G:0.00NA 4
    rs2007181681,2
    --45621273(+) TATTT-/ATTTTT 1 -- int10--------
    rs1451095381,2
    --45621330(+) ATCTCC/TGCTCA 1 -- int10--------
    rs1125209271,2
    C,F--45621348(+) CTCCGC/TCTCCC 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1113796831,2
    C,F--45621462(+) TCACCA/G/TTGTTA 1 -- int12NA WA 4
    rs1885816291,2
    --45621616(+) CCAGGC/TTGGTC 1 -- int10--------
    rs1139066611,2
    C--45621702(+) CTCGGC/TGGTAA 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1117733011,2
    C--45621743(+) ATAGTG/ATCAGC 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1136835891,2
    C,F--45621788(+) GAGTTC/TGATGT 1 -- int12Minor allele frequency- T:0.50WA NA 4
    rs1806840871,2
    --45621817(+) TTATTG/TCAATA 1 -- int10--------
    rs2016354051,2
    C--45621869(+) AAACG-/TATT  
            
    TATTT
    1 -- int10--------
    rs110797781,2
    C,A,H--45622414(+) CAGGCC/TGGAGG 1 -- int11Minor allele frequency- T:0.00NA 2
    rs23178031,2
    C,A--45622485(+) cctccC/Ttcagc 1 -- int1 trp32Minor allele frequency- T:0.00NA 4
    rs23178061,2
    C,A--45622532(+) cacccT/Acctaa 1 -- int11Minor allele frequency- A:0.50WA 2
    rs23178071,2
    C--45622540(+) taattA/Taaaaa 1 -- int12Minor allele frequency- T:0.25NA WA 4
    rs620739751,2
    --45622690(+) TTTAAA/GTAGAA 1 -- int10--------
    rs3769801321,2
    C--45623134(+) GGTCT-/AACTCCT 1 -- int10--------
    rs1413308901,2
    --45623162(+) CTTTGC/TTTGGC 1 -- int10--------
    rs1998013431,2
    C--45623435(+) GTGTGA/TGTGTG 1 -- int10--------
    rs1483575251,2
    C--45623439(+) TGTGT-/GAGAGA
            
    GAGAG
    1 -- cds10--------
    rs1815913491,2
    C--45623441(+) GTGTGA/TGAGAG 1 -- int10--------
    rs1134058561,2
    C,F--45623481(+) CTTCAG/ATGTTT 1 -- int12Minor allele frequency- A:0.50WA NA 4
    rs1860436431,2
    --45623663(+) GGTGCG/TTGCCT 1 -- int10--------
    rs1407222161,2
    --45623748(+) GATTGC/TGCCGC 1 -- int10--------
    rs748504061,2
    C,F--45623891(+) TTTTAC/TTTTTA 1 -- int12Minor allele frequency- T:0.50WA CSA 4
    rs1921526531,2
    --45623979(+) AGCTCA/CCTGCT 1 -- int10--------
    rs1443514121,2
    --45623999(+) TCGTGA/GGTTCA 1 -- int10--------
    rs1840435761,2
    --45624144(+) CAGGTA/GATCTG 1 -- int10--------
    rs1860167651,2
    --45624156(+) CTGCCC/TCCCAA 1 -- int10--------
    rs1908312061,2
    --45624806(+) TCCTGC/GTCTCA 1 -- int10--------
    rs1826579171,2
    --45624907(+) AGATAC/TGGGGG 1 -- int10--------
    rs104320351,2
    C,F--45624913(+) GGGGGG/CGTGGT 1 -- int18Minor allele frequency- C:0.43NA WA CSA EA 368
    rs1390262191,2
    --45624977(+) TCTTCA/GGCCTT 1 -- int10--------
    rs1870291531,2
    --45625290(+) GGGAGA/GTTGAG 1 -- int10--------
    rs1927432091,2
    --45625305(+) GAGAAC/TGGCGT 1 -- int10--------
    rs1119541221,2
    C--45625390(+) CCGTCA/TCAAAA 1 -- int10--------
    rs1877067191,2
    C--45625992(+) TCTCGC/TTCTGT 1 -- int10--------
    rs785519191,2
    C--45626002(+) TCGCCC/AAACGA 1 -- int14Minor allele frequency- A:0.46NA WA EA 360
    rs1147107161,2
    F--45626011(+) GATCTC/TGGCTT 1 -- int11Minor allele frequency- T:0.01WA 118
    rs2018180311,2
    --45626048(+) AGCAA-/TTCTTCTG 1 -- int10--------
    rs1466021451,2
    --45626282(+) GCTAAA/GCTCAT 1 -- int10--------
    rs72094221,2
    C,F,H--45626395(+) AAAACG/ATTAAA 1 -- int12Minor allele frequency- A:0.50NA 4
    rs1932303211,2
    --45626492(+) GATCAG/TGACGT 1 -- int10--------
    rs1848607341,2
    --45626518(+) AGCCTA/GGCGAA 1 -- int10--------
    rs794433871,2
    C,F--45626961(+) GCCAAC/TATGGT 1 -- int12Minor allele frequency- T:0.50NA WA 4
    rs1479945911,2
    --45627005(+) GCTGGA/GCGTGG 1 -- int10--------
    rs80654561,2
    C--45627072(+) aacccG/Aggagg 1 -- int15Minor allele frequency- A:0.00NA WA CSA 9
    rs790110741,2
    C--45627660(+) TATGTA/GCAGTC 1 -- int10--------
    rs47943701,2
    C,F,H--45627672(+) TCCTTA/GAAAGA 1 -- int113Minor allele frequency- G:0.02NS EA NA WA CSA 760
    rs47943711,2
    C,F,A,H--45627693(+) TGTGtG/Ctgttt 1 -- int18Minor allele frequency- C:0.50NA WA CSA EA 251
    rs1919155551,2
    --45627717(+) GAGATA/GGAGTC 1 -- int10--------
    rs47943721,2
    C,F,A,H--45627760(+) gcaatA/Gtcggc 1 -- int18Minor allele frequency- G:0.38NA WA CSA 16
    rs1843696351,2
    --45627946(+) CTTTAG/TATATA 1 -- int10--------
    rs356340411,2
    C--45627998(+) TATAA-/TTTTTT 1 -- int11Minor allele frequency- T:0.00NA 2
    rs1897069141,2
    --45628115(+) AGCCTC/TCCGAG 1 -- int10--------
    rs1114658871,2
    C,F--45628157(+) CCAGCG/TAATTT 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1458151431,2
    --45628244(+) TACCTC/TGGCCT 1 -- int10--------
    rs1113823571,2
    C,F--45628248(+) TCGGCC/TTCCCA 1 -- int11Minor allele frequency- T:0.50WA 2
    rs772850391,2
    C--45628693(+) CAGTGT/ATTCCC 1 -- int11Minor allele frequency- A:0.50NA 2
    rs1893027091,2
    --45628732(+) ATATAA/GTAATA 1 -- int10--------
    rs1403935111,2
    C--45629067(+) TTGACA/GCCCAC 1 -- int10--------
    rs752863461,2
    C--45629332(+) TCTTTC/TTTTTT 1 -- int11Minor allele frequency- T:0.50NA 2
    rs764593531,2
    C--45629347(+) TTTTTC/TTTTTT 1 -- int11Minor allele frequency- T:0.50NA 2
    rs360432001,2
    C,F--45629406(+) CAGTCG/ATGGCT 1 -- int16Minor allele frequency- A:0.39NA WA 130
    rs2013907391,2
    --45629571(+) AGCAG-/TCCTCCTA 1 -- cds10--------
    rs1118984221,2
    C,F--45629623(+) TGTGCC/TTGGCC 1 -- int13Minor allele frequency- T:0.50NA WA 6
    rs1818921961,2
    --45629657(+) CTGTGA/GAATAT 1 -- int10--------
    rs26119461,2
    C,F--45629659(-) ATATAC/TTTCAC 1 -- int13Minor allele frequency- T:0.50NA WA 6
    rs1447007821,2
    C--45629672(+) TGGTTC/TCTATG 1 -- int10--------
    rs1865780271,2
    --45629676(+) TTCTAC/TGCAGG 1 -- int10--------
    rs1385258261,2
    --45629707(+) ACAACA/CCTTAA 1 -- int10--------
    rs1415729561,2
    C--45629708(+) CAACCC/GTTAAG 1 -- int10--------
    rs1910371101,2
    --45629719(+) TATCAG/TTAGTT 1 -- int10--------
    rs1815028531,2
    --45629816(+) AGAGAG/TAAAGA 1 -- int10--------
    rs1444479481,2
    --45629847(+) TTGCAG/TTCTTT 1 -- int10--------
    rs1861872711,2
    --45629909(+) AACCTC/GTGTAG 1 -- int10--------
    rs1913447881,2
    --45630031(+) GATTGC/GTTTAG 1 -- int10--------
    rs1831475881,2
    C--45630049(+) TGTTTC/TAGGAA 1 -- int10--------
    rs1878356331,2
    --45630077(+) TGACTA/GTAGAG 1 -- int10--------
    rs1410589991,2
    --45630420(+) GTACTA/GCTTTT 1 -- int10--------
    rs556876001,2
    C--45630497(+) GGAGGT/CCGAGG 1 -- int11Minor allele frequency- C:0.00NA 2
    rs26119441,2
    --45630518(-) tgaccC/Ttaggt 1 -- int10--------
    rs284836381,2
    --45630554(+) ATGGTA/GAAACC 1 -- int10--------
    rs1502898191,2
    --45630783(+) CATTTC/GTGGTT 1 -- int10--------
    rs26119431,2
    C--45630880(-) ACTACC/TATATG 1 -- int12Minor allele frequency- T:0.00NA 4
    rs1379223801,2
    --45630926(+) CTAAGA/TCCCCC 1 -- int10--------
    rs1128051721,2
    C--45631115(+) TGTGCG/ATCTCT 1 -- int11Minor allele frequency- A:0.50NA 2
    rs2007027821,2
    --45631126(+) TCTCT-/CTTTTT 1 -- int10--------
    rs1129098231,2
    C--45631180(+) GGTGCG/AATCTC 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1126671951,2
    C--45631198(+) TGCAAC/TCTCTG 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1135124621,2
    C,F--45631277(+) ACACCC/TGGCTA 1 -- int12Minor allele frequency- T:0.50WA NA 4
    rs772230581,2
    C--45631317(+) TTCATC/TGTGTT 1 -- int10--------
    rs1131556601,2
    C--45631411(+) GTATCT/-TTTTT 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1136254281,2
    C,F--45631617(+) GTCAGG/CCTGGT 1 -- int12Minor allele frequency- C:0.50WA NA 4
    rs1447339601,2
    --45631663(+) AGCCTC/TGTAAA 1 -- int10--------
    rs2015230751,2
    --45631880(+) CACCA-/ACACACC 1 -- int10--------
    rs1451330621,2
    --45631885(+) AACACC/GCAGCA 1 -- int10--------
    rs1467328691,2
    --45632083(+) AAACTA/GCTAGC 1 -- int10--------
    rs1120801251,2
    C--45632195(+) TACTAG/TGTGCC 1 -- int11Minor allele frequency- T:0.50WA 2
    rs29351801,2
    C,F,H--45632199(-) ATTAGT/GCACCT 1 -- int16Minor allele frequency- G:0.01NS EA NA WA 412
    rs29351791,2
    C--45632257(-) AACATA/GAATCA 1 -- int12Minor allele frequency- G:0.25NA WA 4
    rs29351781,2
    C--45632286(-) CTTGTG/ACCCTC 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1121643221,2
    C--45632332(+) ACTTAC/TGAATT 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1119843681,2
    C--45632338(+) GAATTG/CTTTGT 1 -- int11Minor allele frequency- C:0.50WA 2
    rs1139997491,2
    F--45632374(+) TCAGAC/ACGTAG 1 -- int11Minor allele frequency- A:0.03WA 118
    rs1493712881,2
    --45632428(+) AAGGGA/GGGACT 1 -- int10--------
    rs26119421,2
    --45632592(-) AATACC/TGTAAA 1 -- int10--------
    rs1399574471,2
    C--45632639(+) TGTAAA/CTTATG 1 -- int10--------
    rs113013271,2
    C--45632714(+) TGTTC-/TTTTTT 1 -- int1 trp30--------
    rs1467211741,2
    --45632791(+) TCGCCA/GTAACC 1 -- int10--------
    rs1393379661,2
    --45632868(+) ACCACA/CACACC 1 -- int10--------
    rs749511331,2
    C--45632955(+) TGATCC/TGCCTG 1 -- int11Minor allele frequency- T:0.00NA 2
    rs772211191,2
    F--45632973(+) CTCCCG/ACAGTG 1 -- int11Minor allele frequency- A:0.50NA 2
    rs1133748731,2
    C--45633046(+) GAAGAG/TTTAGT 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1822159641,2
    --45633233(+) ATCCAC/TGTTTG 1 -- int10--------
    rs3725083231,2
    C--45633346(+) TGTTT-/ACCTTTT 1 -- int10--------
    rs348944391,2
    C,F,H--45633376(+) AAATAG/AAGTCT 1 -- int15Minor allele frequency- A:0.09NS NA 792
    rs80650991,2
    C,F,A--45633485(+) tttctT/Cgcaga 1 -- int14Minor allele frequency- C:0.29NA CSA 7
    rs40924591,2
    C,H--45633650(-) gttaaG/Aagtca 1 -- int12Minor allele frequency- A:0.00NS NA 122
    rs41025211,2
    C--45633846(-) agaaaG/Aaagta 1 -- int12Minor allele frequency- A:0.00NA 4
    rs358067691,2
    C,F--45634013(+) TCCCAG/AAAGGG 1 -- int12Minor allele frequency- A:0.50NA 4
    rs346095991,2
    C,F--45634034(+) AGAGGC/TGCCCC 1 -- int14Minor allele frequency- T:0.38NA 8
    rs1484536791,2
    --45634099(+) GGGACC/GGGGCG 1 -- int10--------
    rs1425956911,2
    --45634114(+) AAGCAA/GTTCTC 1 -- int10--------
    rs1875674171,2
    C--45634197(+) TAGAGA/GTGGGG 1 -- int10--------
    rs1477651041,2
    --45634487(+) TCACCC/TAGGCT 1 -- int10--------
    rs116505561,2
    H--45634490(+) cccagA/Gctgga 1 -- int10--------
    rs116509171,2
    H--45634575(+) gatagA/Ctagga 1 -- int10--------
    rs1925635171,2
    --45634758(+) TTTGCA/GGATTT 1 -- int10--------
    rs26119401,2
    C--45634846(-) TGAAGG/AAGGAA 1 -- int1 trp31Minor allele frequency- A:0.50WA 2
    rs26119391,2
    C--45634952(-) ATATAC/ATAGAA 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1842384171,2
    --45634966(+) TTTAAA/CTATAA 1 -- int10--------
    rs99894661,2
    C--45635239(+) TGCCCC/TTTTAT 1 -- int12Minor allele frequency- T:0.25NA 4
    rs1463055961,2
    C--45635381(+) TCCACC/TTCCCG 1 -- int10--------
    rs1380632661,2
    --45635386(+) CTCCCA/GGCTTC 1 -- int10--------
    rs1117145711,2
    C--45635452(+) CACACG/CTGGCT 1 -- int11Minor allele frequency- C:0.50WA 2
    rs1442995831,2
    C--45635535(+) GCTGCC/GGAGGC 1 -- int10--------
    rs1395677691,2
    --45635739(+) ATCCAC/TGTGCC 1 -- int10--------
    rs40607871,2
    --45635740(+) tccacA/Gtgcct 1 -- int10--------
    rs1405865231,2
    --45635785(+) CACCAC/TACCTG 1 -- int10--------
    rs28735581,2
    C,F--45635867(+) ctcggC/Ttcact 1 -- int13Minor allele frequency- T:0.50NA WA 6
    rs39683071,2
    C,F--45635876(+) ctgcaG/Atcttt 1 -- int13Minor allele frequency- A:0.50NA WA 6
    rs1388465211,2
    --45635953(+) ACCACA/GCCTGG 1 -- int10--------
    rs1884854261,2
    --45636140(+) TGACGC/TTTGTA 1 -- int10--------
    rs1928793001,2
    --45636261(+) CGGGCA/GTGGTG 1 -- int10--------
    rs26119741,2
    C,F--45636504(-) TGAGTC/TCAGGA 1 -- int12Minor allele frequency- T:0.50WA NA 4
    rs2000947761,2
    --45636549(+) GAACT-/ACAGATA 1 -- int10--------
    rs1153174931,2
    F--45636564(+) GCTACC/TGTGGT 1 -- int11Minor allele frequency- T:0.02WA 118
    rs26119731,2
    C,F--45636565(-) CACCAC/TGGTAG 1 -- int12Minor allele frequency- T:0.50WA NA 4
    rs1849307331,2
    --45636831(+) AGTAAC/TTTCGC 1 -- int10--------
    rs1125717351,2
    C,F--45636977(+) TTCCAG/ATGTCT 1 -- int12Minor allele frequency- A:0.50WA NA 4
    rs26443711,2
    C--45637109(+) CAAGCC/Ttcttg 1 -- int1