GeneID = 1346 is in our transporter list.
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  • Gene general annotation
  • Data comes from NCBI-Gene
    Entrez GeneID 1346
    Gene Symbol COX7A1
    Aliases COX7A,COX7AH,COX7AM
    Description cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)
    Organism Homo sapiens
    Location 19q13.1
    Genomic position NC_000019.9 36641823-36643770 minus strand (Reference GRCh37.p5 Primary Assembly) U E
    UniProt Accession Q6FGI7
    Mammalian Homolog
    (GeneID)
    mouse : 12865
  • KOBAS Annotation (Pathway/Disease Annotation)
  • PharmacoGenetics Related Genes/Drugs/Diseases
  • TaxicoGenetics Related Chemicals/Diseases/Pathways
  • Known Drugs in DrugBank
  • Transporter Substrate Information
  • 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
    rs1803370 19 36641932 1KG G (minor)3 in 2178 = 0.00138 heterozygosity = 0.00275, with SE = 0.03698 exonic: COX7A1

    synonymous SNV: COX7A1, NM_001864, exon4, c.T192C, p.T64T
    rs2008683 19 36642310 1KG T (minor)16 in 2178 = 0.00735 heterozygosity = 0.01458, with SE = 0.08414 intronic: COX7A1
    rs2285598 19 36642554 1KG G (minor)254 in 2178 = 0.11662 heterozygosity = 0.20604, with SE = 0.24610 intronic: COX7A1
    rs753420 19 36643695 ASW T / G 74 / 40 FET lg p = -46.14

    max diff AF = 0.413
    T/T / G/T / G/G 22 / 30 / 5 UTR5: COX7A1
    CEU 167 / 57 63 / 41 / 8
    CHB 91 / 183 19 / 53 / 65
    CHD 74 / 144 13 / 48 / 48
    GIH 112 / 90 30 / 52 / 19
    JPT 84 / 142 19 / 46 / 48
    LWK 147 / 73 45 / 57 / 8
    MEX 78 / 38 22 / 34 / 2
    MKK 216 / 96 73 / 70 / 13
    TSI 141 / 63 51 / 39 / 12
    YRI 206 / 88 73 / 60 / 14
    1KG G (minor)859 in 2178 = 0.39440 heterozygosity = 0.47770, with SE = 0.10322
    rs7248312 19 36644075 1KG A (minor)84 in 2178 = 0.03857 heterozygosity = 0.07416, with SE = 0.17771 upstream: COX7A1
    Limited to 5 records in this page. Click here to view more.
  • Genomic Variation --- CNV
  • 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 1346
    Gene Symbol and
    Genome Browser
    COX7A1
    UCSC Ensembl
    mRNA NM_001864
    protein NP_001855
    Ensembl ENSG00000161281
    HPRD 00481
    UniProt Accession Q6FGI7
    UniGene Hs.421621
    HomoloGene 48051
    EMBL BT006924; AK312091; CR542120
    IPI IPI00306720
    STRING Q6FGI7
    OMIM 123995
    PharmGKB PA26805