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Links from Protein

Items: 1 to 20 of 184

1.

rs1488856808 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    5:64507871 (GRCh38)
    5:63803698 (GRCh37)
    Canonical SPDI:
    NC_000005.10:64507870:T:G
    Gene:
    RGS7BP (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    3.
    5.

    rs1478970048 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      5:64575788 (GRCh38)
      5:63871615 (GRCh37)
      Canonical SPDI:
      NC_000005.10:64575787:A:C
      Gene:
      RGS7BP (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000071/1 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      6.

      rs1478754633 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        5:64594792 (GRCh38)
        5:63890619 (GRCh37)
        Canonical SPDI:
        NC_000005.10:64594791:A:G
        Gene:
        RGS7BP (Varview)
        Functional Consequence:
        non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000087/2 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000004/1 (TOPMED)
        HGVS:
        7.

        rs1474219129 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          5:64506643 (GRCh38)
          5:63802470 (GRCh37)
          Canonical SPDI:
          NC_000005.10:64506642:G:T
          Gene:
          RGS7BP (Varview)
          Functional Consequence:
          non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
          HGVS:
          11.
          12.

          rs1429298095 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            5:64506661 (GRCh38)
            5:63802488 (GRCh37)
            Canonical SPDI:
            NC_000005.10:64506660:A:C
            Gene:
            RGS7BP (Varview)
            Functional Consequence:
            missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.001119/5 (ALFA)
            C=0.000021/3 (GnomAD)
            C=0.001116/5 (Estonian)
            HGVS:
            13.

            rs1428938009 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              5:64594829 (GRCh38)
              5:63890656 (GRCh37)
              Canonical SPDI:
              NC_000005.10:64594828:G:A,NC_000005.10:64594828:G:T
              Gene:
              RGS7BP (Varview)
              Functional Consequence:
              missense_variant,non_coding_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000005.10:g.64594829G>A, NC_000005.10:g.64594829G>T, NC_000005.9:g.63890656G>A, NC_000005.9:g.63890656G>T, XM_005248502.5:c.583G>A, XM_005248502.5:c.583G>T, XM_005248502.4:c.583G>A, XM_005248502.4:c.583G>T, XM_005248502.3:c.583G>A, XM_005248502.3:c.583G>T, XM_005248502.2:c.583G>A, XM_005248502.2:c.583G>T, XM_005248502.1:c.583G>A, XM_005248502.1:c.583G>T, XR_948251.4:n.1193G>A, XR_948251.4:n.1193G>T, XR_948251.3:n.1175G>A, XR_948251.3:n.1175G>T, XR_948251.2:n.2643G>A, XR_948251.2:n.2643G>T, XR_948251.1:n.1664G>A, XR_948251.1:n.1664G>T, NM_001029875.3:c.583G>A, NM_001029875.3:c.583G>T, NM_001029875.2:c.583G>A, NM_001029875.2:c.583G>T, NR_073511.2:n.343G>A, NR_073511.2:n.343G>T, NR_073511.1:n.375G>A, NR_073511.1:n.375G>T, NM_001271890.2:c.184G>A, NM_001271890.2:c.184G>T, NM_001271890.1:c.184G>A, NM_001271890.1:c.184G>T, NM_001271891.2:c.184G>A, NM_001271891.2:c.184G>T, NM_001271891.1:c.184G>A, NM_001271891.1:c.184G>T, XP_005248559.1:p.Val195Ile, XP_005248559.1:p.Val195Phe, NP_001025046.1:p.Val195Ile, NP_001025046.1:p.Val195Phe, NP_001258819.1:p.Val62Ile, NP_001258819.1:p.Val62Phe, NP_001258820.1:p.Val62Ile, NP_001258820.1:p.Val62Phe
              14.

              rs1428877550 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                5:64506674 (GRCh38)
                5:63802501 (GRCh37)
                Canonical SPDI:
                NC_000005.10:64506673:G:A
                Gene:
                RGS7BP (Varview)
                Functional Consequence:
                missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000094/1 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                A=0.000008/2 (TOPMED)
                HGVS:
                15.

                rs1426126328 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  5:64575792 (GRCh38)
                  5:63871619 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:64575791:C:A
                  Gene:
                  RGS7BP (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  17.

                  rs1415985297 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    5:64506731 (GRCh38)
                    5:63802558 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:64506730:G:A
                    Gene:
                    RGS7BP (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    18.

                    rs1414322529 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      5:64507711 (GRCh38)
                      5:63803538 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:64507710:C:T
                      Gene:
                      RGS7BP (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      19.

                      rs1409884489 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        5:64507722 (GRCh38)
                        5:63803549 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:64507721:G:A
                        Gene:
                        RGS7BP (Varview)
                        Functional Consequence:
                        synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000009/2 (GnomAD_exomes)
                        HGVS:
                        20.

                        rs1409173754 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          5:64594801 (GRCh38)
                          5:63890628 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:64594800:C:T
                          Gene:
                          RGS7BP (Varview)
                          Functional Consequence:
                          synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000015/4 (TOPMED)
                          HGVS:

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