GeneID = 113278 is in our transporter list.
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  • Gene general annotation
  • Data comes from NCBI-Gene
    Entrez GeneID 113278
    Gene Symbol SLC52A3
    Aliases BVVLS,C20orf54,MGC10698,RFT2,RFVT3,bA371L19.1,hRFT2
    Description solute carrier family 52, riboflavin transporter, member 3
    Organism Homo sapiens
    Location 20p13
    Genomic position NC_000020.10 740723-749227 minus strand (Reference GRCh37.p5 Primary Assembly) U E
    UniProt Accession Q9NQ40
    Mammalian Homolog
    (GeneID)
    mouse : 69698
    rat : 311536
  • KOBAS Annotation (Pathway/Disease Annotation)
  • Data comes from KOBAS
    Disease IDDisease NameDisease Database
    Brown-Vialetto-Van Laere syndrome OMIM
  • PharmacoGenetics Related Genes/Drugs/Diseases
  • TaxicoGenetics Related Chemicals/Diseases/Pathways
  • Known Drugs in DrugBank
  • Transporter Substrate Information
  • Data comes from (unpublished integrated data)
    KEGG Compound ID:
    C00255
  • Genomic Variation --- SNP
  • Data is integrated from dbSNP and HapMap, with functionally annotated by ANNOVAR
    Note: heterozygosity is not actually estimated from 1KG data, but is put in the same line for more compact representation.
    dbSNP rsIDchrpositionpop.alleleallele countfrequencyHapMap pop. diff.genotypegenotype count (frequency) functional annotation
    rs1053018 20 740833 CEU G / C 119 / 11 FET lg p = -4.99

    max diff AF = 0.129
    G/G / C/G / C/C 54 / 11 / 0 UTR3: SLC52A3
    CHB 90 / 0 45 / 0 / 0
    JPT 88 / 0 44 / 0 / 0
    YRI 108 / 16 46 / 16 / 0
    1KG C (minor)172 in 2178 = 0.07897 heterozygosity = 0.14547, with SE = 0.22710
    rs910857 20 741847 ASW G / A 77 / 37 FET lg p = -22.61

    max diff AF = 0.402
    G/G / A/G / A/A 24 / 29 / 4 exonic: SLC52A3

    synonymous SNV: SLC52A3, NM_033409, exon5, c.T1233T, p.S411S
    CEU 169 / 57 67 / 35 / 11
    CHB 139 / 135 41 / 57 / 39
    CHD 103 / 115 27 / 49 / 33
    GIH 159 / 43 63 / 33 / 5
    JPT 87 / 139 17 / 53 / 43
    LWK 129 / 91 35 / 59 / 16
    MEX 62 / 54 14 / 34 / 10
    MKK 191 / 121 61 / 69 / 26
    TSI 136 / 68 45 / 46 / 11
    YRI 190 / 104 65 / 60 / 22
    1KG A (minor)855 in 2178 = 0.39256 heterozygosity = 0.47691, with SE = 0.10493
    rs873970 20 742631 ASW G / A 50 / 64 FET lg p = -14.92

    max diff AF = 0.365
    G/G / A/G / A/A 10 / 30 / 17 intronic: SLC52A3
    CEU 142 / 84 47 / 48 / 18
    CHB 137 / 135 33 / 71 / 32
    CHD 104 / 114 24 / 56 / 29
    GIH 150 / 52 56 / 38 / 7
    JPT 120 / 106 28 / 64 / 21
    LWK 96 / 122 23 / 50 / 36
    MEX 70 / 46 23 / 24 / 11
    MKK 174 / 138 45 / 84 / 27
    TSI 116 / 88 37 / 42 / 23
    YRI 111 / 183 20 / 71 / 56
    1KG A (minor)1027 in 2178 = 0.47153 heterozygosity = 0.49838, with SE = 0.02842
    rs910858 20 743827 ASW A / G 57 / 57 FET lg p = -87.77

    max diff AF = 0.585
    A/A / A/G / G/G 14 / 29 / 14 intronic: SLC52A3
    CEU 180 / 46 69 / 42 / 2
    CHB 248 / 26 112 / 24 / 1
    CHD 198 / 20 91 / 16 / 2
    GIH 145 / 57 52 / 41 / 8
    JPT 179 / 47 68 / 43 / 2
    LWK 98 / 122 21 / 56 / 33
    MEX 69 / 47 23 / 23 / 12
    MKK 150 / 162 30 / 90 / 36
    TSI 140 / 64 47 / 46 / 9
    YRI 95 / 199 12 / 71 / 64
    1KG G (minor)688 in 2178 = 0.31589 heterozygosity = 0.43220, with SE = 0.17118
    rs1884636 20 748911 1KG G (minor)333 in 2178 = 0.15289 heterozygosity = 0.25903, with SE = 0.24984 intronic: SLC52A3
    Limited to 5 records in this page. Click here to view more.
  • Genomic Variation --- CNV
  • Data comes from DGV
    Variation IDPositionVar. TypeGainLossTotal GL InvPubMed
    Variation_50720 chr20:743827-745963 U E CopyNumber 0 3 3 19592680
  • Haplotype Information
  • Data links to UCSC Genome Browser
    ContentHyperlinkDemo example
    HapMap LD Structure (hg18)UCSC
    1000 Genomes Phase I Haplotype Clustering (hg19)UCSC
    Gene Haplotype Allele (hg19)UCSC
  • ENCODE TFBS (Transcription Factor Binding Sites) Information
  • Epigenetic Information
  • Gene Ontology (GO)
  • Protein Sequence & Features
  • Protein Domain Information
  • Protein-Protein Interaction
  • UniGene EST Expression Data
  • Allen Brain Atlas - Mouse Brain Expression Data
  • RNA-seq Expression Data
  • External Links
  • EntrezGeneID 113278
    Gene Symbol and
    Genome Browser
    SLC52A3
    UCSC Ensembl
    mRNA NM_033409
    protein NP_212134
    Ensembl ENST00000217254; ENSP00000217254; ENSG00000101276
    HPRD 09843
    UniProt Accession Q9NQ40
    GeneCards GC20M000688
    UniGene Hs.283865
    HomoloGene 12324
    EMBL AK074650; AK291706; AL118502; AL118502; BC009750
    IPI IPI00012749; IPI00215738
    PRIDE Q9NQ40
    STRING Q9NQ40
    OMIM 211500; 211530; 613350
    PharmGKB PA25764