U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 200

1.

rs1489703424 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    8:106739482 (GRCh38)
    8:107751710 (GRCh37)
    Canonical SPDI:
    NC_000008.11:106739481:T:C
    Gene:
    OXR1 (Varview)
    Functional Consequence:
    missense_variant,non_coding_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    HGVS:
    NC_000008.11:g.106739482T>C, NC_000008.10:g.107751710T>C, NM_181354.4:c.1960T>C, NM_018002.3:c.1981T>C, XM_017013589.3:c.2041T>C, XM_017013589.2:c.2041T>C, XM_017013589.1:c.2041T>C, XM_006716595.3:c.1984T>C, XM_006716595.2:c.1984T>C, XM_006716595.1:c.1984T>C, XM_017013593.3:c.1798T>C, XM_017013593.2:c.1798T>C, XM_017013593.1:c.1798T>C, NM_001198533.2:c.2062T>C, NM_001198533.1:c.2062T>C, XM_017013591.2:c.1855T>C, XM_017013591.1:c.1855T>C, XM_017013592.2:c.1852T>C, XM_017013592.1:c.1852T>C, XM_017013590.2:c.1861T>C, XM_017013590.1:c.1861T>C, XR_001745547.2:n.2202T>C, XR_001745547.1:n.2197T>C, NM_001198532.1:c.2065T>C, XM_047421919.1:c.1774T>C, XM_047421920.1:c.1771T>C, XM_047421918.1:c.1780T>C, XM_047421921.1:c.1345T>C, XM_047421922.1:c.1264T>C, NM_001198534.1:c.172T>C, NM_001198535.1:c.91T>C, XR_007060735.1:n.2258T>C, NP_851999.2:p.Ser654Pro, NP_060472.2:p.Ser661Pro, XP_016869078.1:p.Ser681Pro, XP_006716658.1:p.Ser662Pro, XP_016869082.1:p.Ser600Pro, NP_001185462.1:p.Ser688Pro, XP_016869080.1:p.Ser619Pro, XP_016869081.1:p.Ser618Pro, XP_016869079.1:p.Ser621Pro, NP_001185461.1:p.Ser689Pro, XP_047277875.1:p.Ser592Pro, XP_047277876.1:p.Ser591Pro, XP_047277874.1:p.Ser594Pro, XP_047277877.1:p.Ser449Pro, XP_047277878.1:p.Ser422Pro, NP_001185463.1:p.Ser58Pro, NP_001185464.1:p.Ser31Pro

    2.

    rs1484446998 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>T [Show Flanks]
      Chromosome:
      8:106750937 (GRCh38)
      8:107763165 (GRCh37)
      Canonical SPDI:
      NC_000008.11:106750936:A:T
      Gene:
      OXR1 (Varview)
      Functional Consequence:
      missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000008.11:g.106750937A>T, NC_000008.10:g.107763165A>T, NM_181354.4:c.2516A>T, NM_018002.3:c.2537A>T, XM_017013589.3:c.2597A>T, XM_017013589.2:c.2597A>T, XM_017013589.1:c.2597A>T, XM_006716595.3:c.2540A>T, XM_006716595.2:c.2540A>T, XM_006716595.1:c.2540A>T, XM_017013593.3:c.2354A>T, XM_017013593.2:c.2354A>T, XM_017013593.1:c.2354A>T, NM_001198533.2:c.2618A>T, NM_001198533.1:c.2618A>T, XM_017013591.2:c.2411A>T, XM_017013591.1:c.2411A>T, XM_017013592.2:c.2408A>T, XM_017013592.1:c.2408A>T, XM_017013590.2:c.2417A>T, XM_017013590.1:c.2417A>T, NM_001198532.1:c.2621A>T, XM_047421919.1:c.2330A>T, XM_047421920.1:c.2327A>T, XM_047421918.1:c.2336A>T, XM_047421921.1:c.1901A>T, XM_047421922.1:c.1820A>T, NM_001198534.1:c.728A>T, NM_001198535.1:c.647A>T, NP_851999.2:p.Glu839Val, NP_060472.2:p.Glu846Val, XP_016869078.1:p.Glu866Val, XP_006716658.1:p.Glu847Val, XP_016869082.1:p.Glu785Val, NP_001185462.1:p.Glu873Val, XP_016869080.1:p.Glu804Val, XP_016869081.1:p.Glu803Val, XP_016869079.1:p.Glu806Val, NP_001185461.1:p.Glu874Val, XP_047277875.1:p.Glu777Val, XP_047277876.1:p.Glu776Val, XP_047277874.1:p.Glu779Val, XP_047277877.1:p.Glu634Val, XP_047277878.1:p.Glu607Val, NP_001185463.1:p.Glu243Val, NP_001185464.1:p.Glu216Val

      3.

      rs1476693951 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        8:106737547 (GRCh38)
        8:107749775 (GRCh37)
        Canonical SPDI:
        NC_000008.11:106737546:A:G
        Gene:
        OXR1 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,intron_variant
        HGVS:

        4.

        rs1466595856 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          8:106745811 (GRCh38)
          8:107758039 (GRCh37)
          Canonical SPDI:
          NC_000008.11:106745810:A:G
          Gene:
          OXR1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000008.11:g.106745811A>G, NC_000008.10:g.107758039A>G, NM_181354.4:c.2333A>G, NM_018002.3:c.2354A>G, XM_017013589.3:c.2414A>G, XM_017013589.2:c.2414A>G, XM_017013589.1:c.2414A>G, XM_006716595.3:c.2357A>G, XM_006716595.2:c.2357A>G, XM_006716595.1:c.2357A>G, XM_017013593.3:c.2171A>G, XM_017013593.2:c.2171A>G, XM_017013593.1:c.2171A>G, NM_001198533.2:c.2435A>G, NM_001198533.1:c.2435A>G, XM_017013591.2:c.2228A>G, XM_017013591.1:c.2228A>G, XM_017013592.2:c.2225A>G, XM_017013592.1:c.2225A>G, XM_017013590.2:c.2234A>G, XM_017013590.1:c.2234A>G, NM_001198532.1:c.2438A>G, XM_047421919.1:c.2147A>G, XM_047421920.1:c.2144A>G, XM_047421918.1:c.2153A>G, XM_047421921.1:c.1718A>G, XM_047421922.1:c.1637A>G, NM_001198534.1:c.545A>G, NM_001198535.1:c.464A>G, NP_851999.2:p.Asn778Ser, NP_060472.2:p.Asn785Ser, XP_016869078.1:p.Asn805Ser, XP_006716658.1:p.Asn786Ser, XP_016869082.1:p.Asn724Ser, NP_001185462.1:p.Asn812Ser, XP_016869080.1:p.Asn743Ser, XP_016869081.1:p.Asn742Ser, XP_016869079.1:p.Asn745Ser, NP_001185461.1:p.Asn813Ser, XP_047277875.1:p.Asn716Ser, XP_047277876.1:p.Asn715Ser, XP_047277874.1:p.Asn718Ser, XP_047277877.1:p.Asn573Ser, XP_047277878.1:p.Asn546Ser, NP_001185463.1:p.Asn182Ser, NP_001185464.1:p.Asn155Ser

          5.

          rs1464539317 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            A>- [Show Flanks]
            Chromosome:
            8:106726265 (GRCh38)
            8:107738493 (GRCh37)
            Canonical SPDI:
            NC_000008.11:106726264:AAAAAA:AAAAA
            Gene:
            OXR1 (Varview)
            Functional Consequence:
            frameshift_variant,coding_sequence_variant,intron_variant
            HGVS:

            6.

            rs1459324936 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              8:106750868 (GRCh38)
              8:107763096 (GRCh37)
              Canonical SPDI:
              NC_000008.11:106750867:C:T
              Gene:
              OXR1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by cluster
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000008.11:g.106750868C>T, NC_000008.10:g.107763096C>T, NM_181354.4:c.2447C>T, NM_018002.3:c.2468C>T, XM_017013589.3:c.2528C>T, XM_017013589.2:c.2528C>T, XM_017013589.1:c.2528C>T, XM_006716595.3:c.2471C>T, XM_006716595.2:c.2471C>T, XM_006716595.1:c.2471C>T, XM_017013593.3:c.2285C>T, XM_017013593.2:c.2285C>T, XM_017013593.1:c.2285C>T, NM_001198533.2:c.2549C>T, NM_001198533.1:c.2549C>T, XM_017013591.2:c.2342C>T, XM_017013591.1:c.2342C>T, XM_017013592.2:c.2339C>T, XM_017013592.1:c.2339C>T, XM_017013590.2:c.2348C>T, XM_017013590.1:c.2348C>T, NM_001198532.1:c.2552C>T, XM_047421919.1:c.2261C>T, XM_047421920.1:c.2258C>T, XM_047421918.1:c.2267C>T, XM_047421921.1:c.1832C>T, XM_047421922.1:c.1751C>T, NM_001198534.1:c.659C>T, NM_001198535.1:c.578C>T, NP_851999.2:p.Thr816Met, NP_060472.2:p.Thr823Met, XP_016869078.1:p.Thr843Met, XP_006716658.1:p.Thr824Met, XP_016869082.1:p.Thr762Met, NP_001185462.1:p.Thr850Met, XP_016869080.1:p.Thr781Met, XP_016869081.1:p.Thr780Met, XP_016869079.1:p.Thr783Met, NP_001185461.1:p.Thr851Met, XP_047277875.1:p.Thr754Met, XP_047277876.1:p.Thr753Met, XP_047277874.1:p.Thr756Met, XP_047277877.1:p.Thr611Met, XP_047277878.1:p.Thr584Met, NP_001185463.1:p.Thr220Met, NP_001185464.1:p.Thr193Met

              7.

              rs1450295296 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                8:106750824 (GRCh38)
                8:107763052 (GRCh37)
                Canonical SPDI:
                NC_000008.11:106750823:G:C
                Gene:
                OXR1 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000008/2 (TOPMED)
                HGVS:
                NC_000008.11:g.106750824G>C, NC_000008.10:g.107763052G>C, NM_181354.4:c.2403G>C, NM_018002.3:c.2424G>C, XM_017013589.3:c.2484G>C, XM_017013589.2:c.2484G>C, XM_017013589.1:c.2484G>C, XM_006716595.3:c.2427G>C, XM_006716595.2:c.2427G>C, XM_006716595.1:c.2427G>C, XM_017013593.3:c.2241G>C, XM_017013593.2:c.2241G>C, XM_017013593.1:c.2241G>C, NM_001198533.2:c.2505G>C, NM_001198533.1:c.2505G>C, XM_017013591.2:c.2298G>C, XM_017013591.1:c.2298G>C, XM_017013592.2:c.2295G>C, XM_017013592.1:c.2295G>C, XM_017013590.2:c.2304G>C, XM_017013590.1:c.2304G>C, NM_001198532.1:c.2508G>C, XM_047421919.1:c.2217G>C, XM_047421920.1:c.2214G>C, XM_047421918.1:c.2223G>C, XM_047421921.1:c.1788G>C, XM_047421922.1:c.1707G>C, NM_001198534.1:c.615G>C, NM_001198535.1:c.534G>C, NP_851999.2:p.Trp801Cys, NP_060472.2:p.Trp808Cys, XP_016869078.1:p.Trp828Cys, XP_006716658.1:p.Trp809Cys, XP_016869082.1:p.Trp747Cys, NP_001185462.1:p.Trp835Cys, XP_016869080.1:p.Trp766Cys, XP_016869081.1:p.Trp765Cys, XP_016869079.1:p.Trp768Cys, NP_001185461.1:p.Trp836Cys, XP_047277875.1:p.Trp739Cys, XP_047277876.1:p.Trp738Cys, XP_047277874.1:p.Trp741Cys, XP_047277877.1:p.Trp596Cys, XP_047277878.1:p.Trp569Cys, NP_001185463.1:p.Trp205Cys, NP_001185464.1:p.Trp178Cys

                8.

                rs1445696285 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  8:106737543 (GRCh38)
                  8:107749771 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:106737542:C:T
                  Gene:
                  OXR1 (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,synonymous_variant
                  HGVS:

                  9.

                  rs1445607692 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    8:106745802 (GRCh38)
                    8:107758030 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:106745801:C:T
                    Gene:
                    OXR1 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000008.11:g.106745802C>T, NC_000008.10:g.107758030C>T, NM_181354.4:c.2324C>T, NM_018002.3:c.2345C>T, XM_017013589.3:c.2405C>T, XM_017013589.2:c.2405C>T, XM_017013589.1:c.2405C>T, XM_006716595.3:c.2348C>T, XM_006716595.2:c.2348C>T, XM_006716595.1:c.2348C>T, XM_017013593.3:c.2162C>T, XM_017013593.2:c.2162C>T, XM_017013593.1:c.2162C>T, NM_001198533.2:c.2426C>T, NM_001198533.1:c.2426C>T, XM_017013591.2:c.2219C>T, XM_017013591.1:c.2219C>T, XM_017013592.2:c.2216C>T, XM_017013592.1:c.2216C>T, XM_017013590.2:c.2225C>T, XM_017013590.1:c.2225C>T, NM_001198532.1:c.2429C>T, XM_047421919.1:c.2138C>T, XM_047421920.1:c.2135C>T, XM_047421918.1:c.2144C>T, XM_047421921.1:c.1709C>T, XM_047421922.1:c.1628C>T, NM_001198534.1:c.536C>T, NM_001198535.1:c.455C>T, NP_851999.2:p.Thr775Ile, NP_060472.2:p.Thr782Ile, XP_016869078.1:p.Thr802Ile, XP_006716658.1:p.Thr783Ile, XP_016869082.1:p.Thr721Ile, NP_001185462.1:p.Thr809Ile, XP_016869080.1:p.Thr740Ile, XP_016869081.1:p.Thr739Ile, XP_016869079.1:p.Thr742Ile, NP_001185461.1:p.Thr810Ile, XP_047277875.1:p.Thr713Ile, XP_047277876.1:p.Thr712Ile, XP_047277874.1:p.Thr715Ile, XP_047277877.1:p.Thr570Ile, XP_047277878.1:p.Thr543Ile, NP_001185463.1:p.Thr179Ile, NP_001185464.1:p.Thr152Ile

                    10.

                    rs1437562723 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      8:106737540 (GRCh38)
                      8:107749768 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:106737539:T:C
                      Gene:
                      OXR1 (Varview)
                      Functional Consequence:
                      synonymous_variant,intron_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:

                      11.

                      rs1436884120 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        8:106750837 (GRCh38)
                        8:107763065 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:106750836:C:T
                        Gene:
                        OXR1 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000008.11:g.106750837C>T, NC_000008.10:g.107763065C>T, NM_181354.4:c.2416C>T, NM_018002.3:c.2437C>T, XM_017013589.3:c.2497C>T, XM_017013589.2:c.2497C>T, XM_017013589.1:c.2497C>T, XM_006716595.3:c.2440C>T, XM_006716595.2:c.2440C>T, XM_006716595.1:c.2440C>T, XM_017013593.3:c.2254C>T, XM_017013593.2:c.2254C>T, XM_017013593.1:c.2254C>T, NM_001198533.2:c.2518C>T, NM_001198533.1:c.2518C>T, XM_017013591.2:c.2311C>T, XM_017013591.1:c.2311C>T, XM_017013592.2:c.2308C>T, XM_017013592.1:c.2308C>T, XM_017013590.2:c.2317C>T, XM_017013590.1:c.2317C>T, NM_001198532.1:c.2521C>T, XM_047421919.1:c.2230C>T, XM_047421920.1:c.2227C>T, XM_047421918.1:c.2236C>T, XM_047421921.1:c.1801C>T, XM_047421922.1:c.1720C>T, NM_001198534.1:c.628C>T, NM_001198535.1:c.547C>T, NP_851999.2:p.Leu806Phe, NP_060472.2:p.Leu813Phe, XP_016869078.1:p.Leu833Phe, XP_006716658.1:p.Leu814Phe, XP_016869082.1:p.Leu752Phe, NP_001185462.1:p.Leu840Phe, XP_016869080.1:p.Leu771Phe, XP_016869081.1:p.Leu770Phe, XP_016869079.1:p.Leu773Phe, NP_001185461.1:p.Leu841Phe, XP_047277875.1:p.Leu744Phe, XP_047277876.1:p.Leu743Phe, XP_047277874.1:p.Leu746Phe, XP_047277877.1:p.Leu601Phe, XP_047277878.1:p.Leu574Phe, NP_001185463.1:p.Leu210Phe, NP_001185464.1:p.Leu183Phe

                        12.

                        rs1436691497 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          8:106739460 (GRCh38)
                          8:107751688 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:106739459:T:C
                          Gene:
                          OXR1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          T=0.5/1 (SGDP_PRJ)
                          HGVS:
                          NC_000008.11:g.106739460T>C, NC_000008.10:g.107751688T>C, NM_181354.4:c.1938T>C, NM_018002.3:c.1959T>C, XM_017013589.3:c.2019T>C, XM_017013589.2:c.2019T>C, XM_017013589.1:c.2019T>C, XM_006716595.3:c.1962T>C, XM_006716595.2:c.1962T>C, XM_006716595.1:c.1962T>C, XM_017013593.3:c.1776T>C, XM_017013593.2:c.1776T>C, XM_017013593.1:c.1776T>C, NM_001198533.2:c.2040T>C, NM_001198533.1:c.2040T>C, XM_017013591.2:c.1833T>C, XM_017013591.1:c.1833T>C, XM_017013592.2:c.1830T>C, XM_017013592.1:c.1830T>C, XM_017013590.2:c.1839T>C, XM_017013590.1:c.1839T>C, XR_001745547.2:n.2180T>C, XR_001745547.1:n.2175T>C, NM_001198532.1:c.2043T>C, XM_047421919.1:c.1752T>C, XM_047421920.1:c.1749T>C, XM_047421918.1:c.1758T>C, XM_047421921.1:c.1323T>C, XM_047421922.1:c.1242T>C, NM_001198534.1:c.150T>C, NM_001198535.1:c.69T>C, XR_007060735.1:n.2236T>C

                          13.

                          rs1434276947 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            8:106737584 (GRCh38)
                            8:107749812 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:106737583:T:C
                            Gene:
                            OXR1 (Varview)
                            Functional Consequence:
                            intron_variant,missense_variant,coding_sequence_variant
                            HGVS:

                            14.

                            rs1420916290 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              8:106745856 (GRCh38)
                              8:107758084 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:106745855:G:A
                              Gene:
                              OXR1 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000008.11:g.106745856G>A, NC_000008.10:g.107758084G>A, NM_181354.4:c.2378G>A, NM_018002.3:c.2399G>A, XM_017013589.3:c.2459G>A, XM_017013589.2:c.2459G>A, XM_017013589.1:c.2459G>A, XM_006716595.3:c.2402G>A, XM_006716595.2:c.2402G>A, XM_006716595.1:c.2402G>A, XM_017013593.3:c.2216G>A, XM_017013593.2:c.2216G>A, XM_017013593.1:c.2216G>A, NM_001198533.2:c.2480G>A, NM_001198533.1:c.2480G>A, XM_017013591.2:c.2273G>A, XM_017013591.1:c.2273G>A, XM_017013592.2:c.2270G>A, XM_017013592.1:c.2270G>A, XM_017013590.2:c.2279G>A, XM_017013590.1:c.2279G>A, NM_001198532.1:c.2483G>A, XM_047421919.1:c.2192G>A, XM_047421920.1:c.2189G>A, XM_047421918.1:c.2198G>A, XM_047421921.1:c.1763G>A, XM_047421922.1:c.1682G>A, NM_001198534.1:c.590G>A, NM_001198535.1:c.509G>A, NP_851999.2:p.Gly793Asp, NP_060472.2:p.Gly800Asp, XP_016869078.1:p.Gly820Asp, XP_006716658.1:p.Gly801Asp, XP_016869082.1:p.Gly739Asp, NP_001185462.1:p.Gly827Asp, XP_016869080.1:p.Gly758Asp, XP_016869081.1:p.Gly757Asp, XP_016869079.1:p.Gly760Asp, NP_001185461.1:p.Gly828Asp, XP_047277875.1:p.Gly731Asp, XP_047277876.1:p.Gly730Asp, XP_047277874.1:p.Gly733Asp, XP_047277877.1:p.Gly588Asp, XP_047277878.1:p.Gly561Asp, NP_001185463.1:p.Gly197Asp, NP_001185464.1:p.Gly170Asp

                              15.

                              rs1400829480 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                8:106740477 (GRCh38)
                                8:107752705 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:106740476:T:A
                                Gene:
                                OXR1 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000011/3 (TOPMED)
                                A=0.000014/2 (GnomAD)
                                HGVS:

                                16.

                                rs1390749944 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  8:106745847 (GRCh38)
                                  8:107758075 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:106745846:C:T
                                  Gene:
                                  OXR1 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000008.11:g.106745847C>T, NC_000008.10:g.107758075C>T, NM_181354.4:c.2369C>T, NM_018002.3:c.2390C>T, XM_017013589.3:c.2450C>T, XM_017013589.2:c.2450C>T, XM_017013589.1:c.2450C>T, XM_006716595.3:c.2393C>T, XM_006716595.2:c.2393C>T, XM_006716595.1:c.2393C>T, XM_017013593.3:c.2207C>T, XM_017013593.2:c.2207C>T, XM_017013593.1:c.2207C>T, NM_001198533.2:c.2471C>T, NM_001198533.1:c.2471C>T, XM_017013591.2:c.2264C>T, XM_017013591.1:c.2264C>T, XM_017013592.2:c.2261C>T, XM_017013592.1:c.2261C>T, XM_017013590.2:c.2270C>T, XM_017013590.1:c.2270C>T, NM_001198532.1:c.2474C>T, XM_047421919.1:c.2183C>T, XM_047421920.1:c.2180C>T, XM_047421918.1:c.2189C>T, XM_047421921.1:c.1754C>T, XM_047421922.1:c.1673C>T, NM_001198534.1:c.581C>T, NM_001198535.1:c.500C>T, NP_851999.2:p.Ala790Val, NP_060472.2:p.Ala797Val, XP_016869078.1:p.Ala817Val, XP_006716658.1:p.Ala798Val, XP_016869082.1:p.Ala736Val, NP_001185462.1:p.Ala824Val, XP_016869080.1:p.Ala755Val, XP_016869081.1:p.Ala754Val, XP_016869079.1:p.Ala757Val, NP_001185461.1:p.Ala825Val, XP_047277875.1:p.Ala728Val, XP_047277876.1:p.Ala727Val, XP_047277874.1:p.Ala730Val, XP_047277877.1:p.Ala585Val, XP_047277878.1:p.Ala558Val, NP_001185463.1:p.Ala194Val, NP_001185464.1:p.Ala167Val

                                  17.

                                  rs1390237462 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C,G [Show Flanks]
                                    Chromosome:
                                    8:106726306 (GRCh38)
                                    8:107738534 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:106726305:T:C,NC_000008.11:106726305:T:G
                                    Gene:
                                    OXR1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    HGVS:

                                    18.

                                    rs1384641418 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      8:106740371 (GRCh38)
                                      8:107752599 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:106740370:T:C
                                      Gene:
                                      OXR1 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0./0 (GnomAD)
                                      C=0.000004/1 (GnomAD_exomes)
                                      C=0.000035/1 (TOMMO)
                                      HGVS:
                                      NC_000008.11:g.106740371T>C, NC_000008.10:g.107752599T>C, NM_181354.4:c.2090T>C, NM_018002.3:c.2111T>C, XM_017013589.3:c.2171T>C, XM_017013589.2:c.2171T>C, XM_017013589.1:c.2171T>C, XM_006716595.3:c.2114T>C, XM_006716595.2:c.2114T>C, XM_006716595.1:c.2114T>C, XM_017013593.3:c.1928T>C, XM_017013593.2:c.1928T>C, XM_017013593.1:c.1928T>C, NM_001198533.2:c.2192T>C, NM_001198533.1:c.2192T>C, XM_017013591.2:c.1985T>C, XM_017013591.1:c.1985T>C, XM_017013592.2:c.1982T>C, XM_017013592.1:c.1982T>C, XM_017013590.2:c.1991T>C, XM_017013590.1:c.1991T>C, NM_001198532.1:c.2195T>C, XM_047421919.1:c.1904T>C, XM_047421920.1:c.1901T>C, XM_047421918.1:c.1910T>C, XM_047421921.1:c.1475T>C, XM_047421922.1:c.1394T>C, NM_001198534.1:c.302T>C, NM_001198535.1:c.221T>C, NP_851999.2:p.Ile697Thr, NP_060472.2:p.Ile704Thr, XP_016869078.1:p.Ile724Thr, XP_006716658.1:p.Ile705Thr, XP_016869082.1:p.Ile643Thr, NP_001185462.1:p.Ile731Thr, XP_016869080.1:p.Ile662Thr, XP_016869081.1:p.Ile661Thr, XP_016869079.1:p.Ile664Thr, NP_001185461.1:p.Ile732Thr, XP_047277875.1:p.Ile635Thr, XP_047277876.1:p.Ile634Thr, XP_047277874.1:p.Ile637Thr, XP_047277877.1:p.Ile492Thr, XP_047277878.1:p.Ile465Thr, NP_001185463.1:p.Ile101Thr, NP_001185464.1:p.Ile74Thr

                                      19.

                                      rs1365443533 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        8:106750926 (GRCh38)
                                        8:107763154 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:106750925:C:G
                                        Gene:
                                        OXR1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000008.11:g.106750926C>G, NC_000008.10:g.107763154C>G, NM_181354.4:c.2505C>G, NM_018002.3:c.2526C>G, XM_017013589.3:c.2586C>G, XM_017013589.2:c.2586C>G, XM_017013589.1:c.2586C>G, XM_006716595.3:c.2529C>G, XM_006716595.2:c.2529C>G, XM_006716595.1:c.2529C>G, XM_017013593.3:c.2343C>G, XM_017013593.2:c.2343C>G, XM_017013593.1:c.2343C>G, NM_001198533.2:c.2607C>G, NM_001198533.1:c.2607C>G, XM_017013591.2:c.2400C>G, XM_017013591.1:c.2400C>G, XM_017013592.2:c.2397C>G, XM_017013592.1:c.2397C>G, XM_017013590.2:c.2406C>G, XM_017013590.1:c.2406C>G, NM_001198532.1:c.2610C>G, XM_047421919.1:c.2319C>G, XM_047421920.1:c.2316C>G, XM_047421918.1:c.2325C>G, XM_047421921.1:c.1890C>G, XM_047421922.1:c.1809C>G, NM_001198534.1:c.717C>G, NM_001198535.1:c.636C>G, NP_851999.2:p.Ile835Met, NP_060472.2:p.Ile842Met, XP_016869078.1:p.Ile862Met, XP_006716658.1:p.Ile843Met, XP_016869082.1:p.Ile781Met, NP_001185462.1:p.Ile869Met, XP_016869080.1:p.Ile800Met, XP_016869081.1:p.Ile799Met, XP_016869079.1:p.Ile802Met, NP_001185461.1:p.Ile870Met, XP_047277875.1:p.Ile773Met, XP_047277876.1:p.Ile772Met, XP_047277874.1:p.Ile775Met, XP_047277877.1:p.Ile630Met, XP_047277878.1:p.Ile603Met, NP_001185463.1:p.Ile239Met, NP_001185464.1:p.Ile212Met

                                        20.

                                        rs1365105250 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          8:106742284 (GRCh38)
                                          8:107754512 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:106742283:G:A
                                          Gene:
                                          OXR1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant,genic_downstream_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:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...