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Links from Protein

Items: 1 to 20 of 685

2.

rs1488157571 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    2:241816209 (GRCh38)
    2:242757535 (GRCh37)
    Canonical SPDI:
    NC_000002.12:241816208:G:A,NC_000002.12:241816208:G:T
    Gene:
    NEU4 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000043/1 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000007/1 (GnomAD)
    A=0.000071/1 (TOMMO)
    ...more
    HGVS:
    5.
    8.

    rs1479706252 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      2:241814520 (GRCh38)
      2:242755717 (GRCh37)
      Canonical SPDI:
      NC_000002.12:241814519:C:T
      Gene:
      NEU4 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000008/2 (TOPMED)
      HGVS:
      10.

      rs1474305583 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        2:241814502 (GRCh38)
        2:242755699 (GRCh37)
        Canonical SPDI:
        NC_000002.12:241814501:C:A
        Gene:
        NEU4 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000008/2 (TOPMED)
        A=0.000012/3 (GnomAD_exomes)
        ...more
        HGVS:
        11.

        rs1472430857 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          2:241816889 (GRCh38)
          2:242758215 (GRCh37)
          Canonical SPDI:
          NC_000002.12:241816888:C:A
          Gene:
          NEU4 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000008/2 (TOPMED)
          ...more
          HGVS:
          12.

          rs1471707408 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            2:241816517 (GRCh38)
            2:242757843 (GRCh37)
            Canonical SPDI:
            NC_000002.12:241816516:C:T
            Gene:
            NEU4 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            T=0.000019/5 (TOPMED)
            T=0.000021/3 (GnomAD)
            C=0.5/1 (SGDP_PRJ)
            ...more
            HGVS:
            15.

            rs1466784563 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              2:241816457 (GRCh38)
              2:242757783 (GRCh37)
              Canonical SPDI:
              NC_000002.12:241816456:C:T
              Gene:
              NEU4 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              T=0.000106/2 (TOMMO)
              ...more
              HGVS:
              16.

              rs1465517794 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                2:241811441 (GRCh38)
                2:242752536 (GRCh37)
                Canonical SPDI:
                NC_000002.12:241811440:G:A
                Gene:
                NEU4 (Varview), LOC124905349 (Varview)
                Functional Consequence:
                upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000224/1 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000223/1 (Estonian)
                ...more
                HGVS:
                19.
                20.

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