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Items: 1 to 20 of 212

1.

rs1490744662 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    11:45806224 (GRCh38)
    11:45827775 (GRCh37)
    Canonical SPDI:
    NC_000011.10:45806223:C:T
    Gene:
    SLC35C1 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1487747153 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      11:45806239 (GRCh38)
      11:45827790 (GRCh37)
      Canonical SPDI:
      NC_000011.10:45806238:C:T
      Gene:
      SLC35C1 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
      HGVS:
      3.

      rs1481603088 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        11:45806159 (GRCh38)
        11:45827710 (GRCh37)
        Canonical SPDI:
        NC_000011.10:45806158:C:T
        Gene:
        SLC35C1 (Varview)
        Functional Consequence:
        upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000008/2 (GnomAD_exomes)
        HGVS:
        4.

        rs1480713180 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          11:45806150 (GRCh38)
          11:45827701 (GRCh37)
          Canonical SPDI:
          NC_000011.10:45806149:G:A
          Gene:
          SLC35C1 (Varview)
          Functional Consequence:
          upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1472517586 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            C>- [Show Flanks]
            Chromosome:
            11:45806142 (GRCh38)
            11:45827693 (GRCh37)
            Canonical SPDI:
            NC_000011.10:45806141:CCC:CC
            Gene:
            SLC35C1 (Varview)
            Functional Consequence:
            frameshift_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CC=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            -=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1463190815 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              11:45808173 (GRCh38)
              11:45829724 (GRCh37)
              Canonical SPDI:
              NC_000011.10:45808172:C:T
              Gene:
              SLC35C1 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,intron_variant,5_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000014/2 (GnomAD)
              T=0.000015/4 (TOPMED)
              HGVS:
              7.

              rs1460461634 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                11:45806095 (GRCh38)
                11:45827646 (GRCh37)
                Canonical SPDI:
                NC_000011.10:45806094:C:T
                Gene:
                SLC35C1 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
                HGVS:
                8.

                rs1455061141 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  11:45806051 (GRCh38)
                  11:45827602 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:45806050:A:T
                  Gene:
                  SLC35C1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1445126023 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    A>- [Show Flanks]
                    Chromosome:
                    11:45805805 (GRCh38)
                    11:45827356 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:45805804:AA:A
                    Gene:
                    SLC35C1 (Varview)
                    Functional Consequence:
                    intron_variant,frameshift_variant,coding_sequence_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    AA=0./0 (ALFA)
                    -=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1439572034 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      11:45805825 (GRCh38)
                      11:45827376 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:45805824:G:A
                      Gene:
                      SLC35C1 (Varview)
                      Functional Consequence:
                      synonymous_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant
                      HGVS:
                      11.

                      rs1438911274 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        11:45806281 (GRCh38)
                        11:45827832 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:45806280:G:A,NC_000011.10:45806280:G:C
                        Gene:
                        SLC35C1 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        13.

                        rs1437794612 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          11:45806052 (GRCh38)
                          11:45827603 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:45806051:C:A
                          Gene:
                          SLC35C1 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          14.

                          rs1434088150 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            11:45806272 (GRCh38)
                            11:45827823 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:45806271:C:T
                            Gene:
                            SLC35C1 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            15.

                            rs1427324247 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              11:45805885 (GRCh38)
                              11:45827436 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:45805884:C:A
                              Gene:
                              SLC35C1 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              16.

                              rs1425543571 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                11:45806260 (GRCh38)
                                11:45827811 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:45806259:C:T
                                Gene:
                                SLC35C1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                HGVS:
                                17.

                                rs1422884397 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  11:45808159 (GRCh38)
                                  11:45829710 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:45808158:A:G
                                  Gene:
                                  SLC35C1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,intron_variant,5_prime_UTR_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  18.

                                  rs1418822602 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    11:45805936 (GRCh38)
                                    11:45827487 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:45805935:C:G
                                    Gene:
                                    SLC35C1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    19.

                                    rs1416390852 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      11:45806118 (GRCh38)
                                      11:45827669 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:45806117:G:C
                                      Gene:
                                      SLC35C1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000011/3 (TOPMED)
                                      C=0.000014/2 (GnomAD)
                                      HGVS:
                                      20.

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