U.S. flag

An official website of the United States government

Links from Protein

Items: 1 to 20 of 556

1.

rs1490697353 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    11:114705893 (GRCh38)
    11:114576615 (GRCh37)
    Canonical SPDI:
    NC_000011.10:114705892:T:C
    Gene:
    NXPE2 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000007/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1490639863 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G,T [Show Flanks]
      Chromosome:
      11:114698103 (GRCh38)
      11:114568825 (GRCh37)
      Canonical SPDI:
      NC_000011.10:114698102:A:G,NC_000011.10:114698102:A:T
      Gene:
      NXPE2 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by cluster
      MAF:
      T=0.000008/2 (GnomAD_exomes)
      HGVS:
      3.
      4.
      5.

      rs1484624084 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        11:114698486 (GRCh38)
        11:114569208 (GRCh37)
        Canonical SPDI:
        NC_000011.10:114698485:C:T
        Gene:
        NXPE2 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        T=0.000004/1 (TOPMED)
        ...more
        HGVS:
        6.

        rs1484555599 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          11:114706488 (GRCh38)
          11:114577210 (GRCh37)
          Canonical SPDI:
          NC_000011.10:114706487:A:G
          Gene:
          NXPE2 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000006/1 (GnomAD_exomes)
          G=0.000007/1 (GnomAD)
          ...more
          HGVS:
          7.

          rs1482429826 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C,T [Show Flanks]
            Chromosome:
            11:114698700 (GRCh38)
            11:114569422 (GRCh37)
            Canonical SPDI:
            NC_000011.10:114698699:G:C,NC_000011.10:114698699:G:T
            Gene:
            NXPE2 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000108/2 (ALFA)
            C=0.000004/1 (TOPMED)
            T=0.000446/2 (Estonian)
            ...more
            HGVS:
            10.

            rs1475297908 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              11:114705806 (GRCh38)
              11:114576528 (GRCh37)
              Canonical SPDI:
              NC_000011.10:114705805:C:T
              Gene:
              NXPE2 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000062/2 (ALFA)
              T=0.000008/2 (TOPMED)
              HGVS:
              13.
              14.

              rs1470466579 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,C [Show Flanks]
                Chromosome:
                11:114698275 (GRCh38)
                11:114568997 (GRCh37)
                Canonical SPDI:
                NC_000011.10:114698274:T:A,NC_000011.10:114698274:T:C
                Gene:
                NXPE2 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                17.
                18.

                rs1465608220 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,G [Show Flanks]
                  Chromosome:
                  11:114679658 (GRCh38)
                  11:114550380 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:114679657:A:C,NC_000011.10:114679657:A:G
                  Gene:
                  NXPE4 (Varview), NXPE2 (Varview)
                  Functional Consequence:
                  missense_variant,non_coding_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  C=0.000006/1 (GnomAD_exomes)
                  ...more
                  HGVS:

                  Supplemental Content

                  Find related data

                  Recent activity

                  Your browsing activity is empty.

                  Activity recording is turned off.

                  Turn recording back on

                  See more...
                  External link. Please review our privacy policy.