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Items: 1 to 20 of 208

4.

rs1479702408 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    15:43695825 (GRCh38)
    15:43988023 (GRCh37)
    Canonical SPDI:
    NC_000015.10:43695824:A:G
    Gene:
    CKMT1A (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.00135/16 (ALFA)
    HGVS:
    5.
    7.
    9.

    rs1469944322 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      15:43698718 (GRCh38)
      15:43990916 (GRCh37)
      Canonical SPDI:
      NC_000015.10:43698717:A:G
      Gene:
      CKMT1A (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      15.

      rs1460523415 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        15:43696314 (GRCh38)
        15:43988512 (GRCh37)
        Canonical SPDI:
        NC_000015.10:43696313:G:A
        Gene:
        CKMT1A (Varview)
        Functional Consequence:
        missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000043/1 (ALFA)
        A=0.000015/2 (GnomAD)
        A=0.000016/4 (GnomAD_exomes)
        ...more
        HGVS:
        16.

        rs1457847373 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          15:43698094 (GRCh38)
          15:43990292 (GRCh37)
          Canonical SPDI:
          NC_000015.10:43698093:C:T
          Gene:
          CKMT1A (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          HGVS:
          18.

          rs1451361666 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            15:43699151 (GRCh38)
            15:43991349 (GRCh37)
            Canonical SPDI:
            NC_000015.10:43699150:C:A
            Gene:
            CKMT1A (Varview), STRCP1 (Varview)
            Functional Consequence:
            downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            HGVS:

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