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Links from Protein

Items: 1 to 20 of 157

5.

rs1457210754 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    17:59765072 (GRCh38)
    17:57842433 (GRCh37)
    Canonical SPDI:
    NC_000017.11:59765071:G:A
    Gene:
    VMP1 (Varview)
    Functional Consequence:
    synonymous_variant,5_prime_UTR_variant,intron_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    ...more
    HGVS:
    13.

    rs1401567068 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C,G [Show Flanks]
      Chromosome:
      17:59773762 (GRCh38)
      17:57851123 (GRCh37)
      Canonical SPDI:
      NC_000017.11:59773761:T:C,NC_000017.11:59773761:T:G
      Gene:
      VMP1 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      G=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      ...more
      HGVS:
      16.

      rs1390536649 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,G,T [Show Flanks]
        Chromosome:
        17:59839870 (GRCh38)
        17:57917231 (GRCh37)
        Canonical SPDI:
        NC_000017.11:59839869:C:A,NC_000017.11:59839869:C:G,NC_000017.11:59839869:C:T
        Gene:
        VMP1 (Varview), MIR21 (Varview)
        Functional Consequence:
        stop_gained,missense_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        T=0.000004/1 (TOPMED)
        ...more
        HGVS:
        NC_000017.11:g.59839870C>A, NC_000017.11:g.59839870C>G, NC_000017.11:g.59839870C>T, NC_000017.10:g.57917231C>A, NC_000017.10:g.57917231C>G, NC_000017.10:g.57917231C>T, NG_051107.1:g.137406C>A, NG_051107.1:g.137406C>G, NG_051107.1:g.137406C>T, NM_030938.5:c.1180C>A, NM_030938.5:c.1180C>G, NM_030938.5:c.1180C>T, NM_030938.4:c.1180C>A, NM_030938.4:c.1180C>G, NM_030938.4:c.1180C>T, NM_030938.3:c.1180C>A, NM_030938.3:c.1180C>G, NM_030938.3:c.1180C>T, NM_001329394.2:c.1180C>A, NM_001329394.2:c.1180C>G, NM_001329394.2:c.1180C>T, NM_001329394.1:c.1180C>A, NM_001329394.1:c.1180C>G, NM_001329394.1:c.1180C>T, NM_001329395.2:c.1219C>A, NM_001329395.2:c.1219C>G, NM_001329395.2:c.1219C>T, NM_001329395.1:c.1219C>A, NM_001329395.1:c.1219C>G, NM_001329395.1:c.1219C>T, NM_001329398.2:c.928C>A, NM_001329398.2:c.928C>G, NM_001329398.2:c.928C>T, NM_001329398.1:c.928C>A, NM_001329398.1:c.928C>G, NM_001329398.1:c.928C>T, NM_001329399.2:c.889C>A, NM_001329399.2:c.889C>G, NM_001329399.2:c.889C>T, NM_001329399.1:c.889C>A, NM_001329399.1:c.889C>G, NM_001329399.1:c.889C>T, NM_001329396.2:c.1069C>A, NM_001329396.2:c.1069C>G, NM_001329396.2:c.1069C>T, NM_001329396.1:c.1069C>A, NM_001329396.1:c.1069C>G, NM_001329396.1:c.1069C>T, NM_001329402.2:c.604C>A, NM_001329402.2:c.604C>G, NM_001329402.2:c.604C>T, NM_001329402.1:c.604C>A, NM_001329402.1:c.604C>G, NM_001329402.1:c.604C>T, NM_001329397.2:c.1012C>A, NM_001329397.2:c.1012C>G, NM_001329397.2:c.1012C>T, NM_001329397.1:c.1012C>A, NM_001329397.1:c.1012C>G, NM_001329397.1:c.1012C>T, NM_001329400.2:c.778C>A, NM_001329400.2:c.778C>G, NM_001329400.2:c.778C>T, NM_001329400.1:c.778C>A, NM_001329400.1:c.778C>G, NM_001329400.1:c.778C>T, NM_001329401.2:c.721C>A, NM_001329401.2:c.721C>G, NM_001329401.2:c.721C>T, NM_001329401.1:c.721C>A, NM_001329401.1:c.721C>G, NM_001329401.1:c.721C>T, NP_112200.2:p.Arg394Gly, NP_112200.2:p.Arg394Ter, NP_001316323.1:p.Arg394Gly, NP_001316323.1:p.Arg394Ter, NP_001316324.1:p.Arg407Gly, NP_001316324.1:p.Arg407Ter, NP_001316327.1:p.Arg310Gly, NP_001316327.1:p.Arg310Ter, NP_001316328.1:p.Arg297Gly, NP_001316328.1:p.Arg297Ter, NP_001316325.1:p.Arg357Gly, NP_001316325.1:p.Arg357Ter, NP_001316331.1:p.Arg202Gly, NP_001316331.1:p.Arg202Ter, NP_001316326.1:p.Arg338Gly, NP_001316326.1:p.Arg338Ter, NP_001316329.1:p.Arg260Gly, NP_001316329.1:p.Arg260Ter, NP_001316330.1:p.Arg241Gly, NP_001316330.1:p.Arg241Ter
        ...more
        19.

        rs1381570600 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          17:59764994 (GRCh38)
          17:57842355 (GRCh37)
          Canonical SPDI:
          NC_000017.11:59764993:A:G
          Gene:
          VMP1 (Varview)
          Functional Consequence:
          5_prime_UTR_variant,intron_variant,synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          HGVS:
          20.

          rs1377176334 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->AAGAACAGT [Show Flanks]
            Chromosome:
            17:59773884 (GRCh38)
            17:57851246 (GRCh37)
            Canonical SPDI:
            NC_000017.11:59773884:AGTAAGAACAGT:AGTAAGAACAGTAAGAACAGT
            Gene:
            VMP1 (Varview)
            Functional Consequence:
            intron_variant,splice_donor_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            AGTAAGAAC=0.000004/1 (GnomAD_exomes)
            HGVS:

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