P00435 · GPX1_BOVIN
- ProteinGlutathione peroxidase 1
- GeneGPX1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids205 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs475483227 | 2 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_037349.1:g.50752645T>A Codon: TGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752645T>A Locations: - p.Cys2Ser (Ensembl:ENSBTAT00000080370) - c.4T>A (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs437612113 | 15 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_037349.1:g.50752685C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752685C>G Locations: - p.Ala15Gly (Ensembl:ENSBTAT00000080370) - c.44C>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs460016605 | 18 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.50752693A>C Codon: ACA/CCA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752693A>C Locations: - p.Thr18Pro (Ensembl:ENSBTAT00000080370) - c.52A>C (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs438952569 | 19 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037349.1:g.50752697T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752697T>G Locations: - p.Val19Gly (Ensembl:ENSBTAT00000080370) - c.56T>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs459061953 | 20 | Y>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50752700A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752700A>G Locations: - p.Tyr20Cys (Ensembl:ENSBTAT00000080370) - c.59A>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs450872507 | 21 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_037349.1:g.50752702G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752702G>T Locations: - p.Ala21Ser (Ensembl:ENSBTAT00000080370) - c.61G>T (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs461227787 | 24 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037349.1:g.50752712C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752712C>G Locations: - p.Ala24Gly (Ensembl:ENSBTAT00000080370) - c.71C>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs446734879 | 26 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037349.1:g.50752718C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752718C>A Locations: - p.Pro26His (Ensembl:ENSBTAT00000080370) - c.77C>A (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs481212186 | 26 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.89) Somatic: No Accession: NC_037349.1:g.50752717C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752717C>A Locations: - p.Pro26Thr (Ensembl:ENSBTAT00000080370) - c.76C>A (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs466683053 | 31 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50752733A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752733A>G Locations: - p.Glu31Gly (Ensembl:ENSBTAT00000080370) - c.92A>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs432175548 | 32 | P>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.7) Somatic: No Accession: NC_037349.1:g.50752735C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752735C>G Locations: - p.Pro32Ala (Ensembl:ENSBTAT00000080370) - c.94C>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs445760574 | 32 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_037349.1:g.50752736C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752736C>A Locations: - p.Pro32His (Ensembl:ENSBTAT00000080370) - c.95C>A (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs469114796 | 33 | F>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_037349.1:g.50752738T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752738T>G Locations: - p.Phe33Val (Ensembl:ENSBTAT00000080370) - c.97T>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs437639832 | 34 | N>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_037349.1:g.50752741A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752741A>C Locations: - p.Asn34His (Ensembl:ENSBTAT00000080370) - c.100A>C (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs454601714 | 34 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_037349.1:g.50752743C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752743C>A Locations: - p.Asn34Lys (Ensembl:ENSBTAT00000080370) - c.102C>A (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs468202079 | 35 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50752745T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752745T>G Locations: - p.Leu35Arg (Ensembl:ENSBTAT00000080370) - c.104T>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs433536788 | 36 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_037349.1:g.50752747T>A Codon: TCC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752747T>A Locations: - p.Ser36Thr (Ensembl:ENSBTAT00000080370) - c.106T>A (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs473658839 | 41 | K>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_037349.1:g.50752762A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752762A>C Locations: - p.Lys41Gln (Ensembl:ENSBTAT00000080370) - c.121A>C (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs438996382 | 41 | K>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50752763A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752763A>C Locations: - p.Lys41Thr (Ensembl:ENSBTAT00000080370) - c.122A>C (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs476045898 | 42 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50752766T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752766T>G Locations: - p.Val42Gly (Ensembl:ENSBTAT00000080370) - c.125T>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs461266780 | 48 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50752784T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752784T>C Locations: - p.Val48Ala (Ensembl:ENSBTAT00000080370) - c.143T>C (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs481249045 | 49 | A>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50752787C>A Codon: GCA/GAA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752787C>A Locations: - p.Ala49Glu (Ensembl:ENSBTAT00000080370) - c.146C>A (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs460295174 | 50 | S>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037349.1:g.50752790C>A Codon: TCG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NC_037349.1:g.50752790C>A Locations: - p.Ser50Ter (Ensembl:ENSBTAT00000080370) - c.149C>A (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs477308288 | 52 | U>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_037349.1:g.50752796G>C Codon: TGA/TCA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752796G>C Locations: - p.Sec52Ser (Ensembl:ENSBTAT00000080370) - c.155G>C (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs469201664 | 54 | T>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50752802C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752802C>G Locations: - p.Thr54Arg (Ensembl:ENSBTAT00000080370) - c.161C>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs482851909 | 56 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.50752807G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752807G>A Locations: - p.Val56Met (Ensembl:ENSBTAT00000080370) - c.166G>A (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs468238877 | 58 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037349.1:g.50752815C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752815C>A Locations: - p.Asp58Glu (Ensembl:ENSBTAT00000080370) - c.174C>A (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs433573803 | 63 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50752829A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752829A>T Locations: - p.Asn63Ile (Ensembl:ENSBTAT00000080370) - c.188A>T (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs433573803 | 63 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037349.1:g.50752829A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752829A>G Locations: - p.Asn63Ser (Ensembl:ENSBTAT00000080370) - c.188A>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs453685552 | 70 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037349.1:g.50752850G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752850G>A Locations: - p.Gly70Glu (Ensembl:ENSBTAT00000080370) - c.209G>A (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs432723733 | 71 | P>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_037349.1:g.50752852C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752852C>G Locations: - p.Pro71Ala (Ensembl:ENSBTAT00000080370) - c.211C>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs452764487 | 73 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50752859G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752859G>T Locations: - p.Gly73Val (Ensembl:ENSBTAT00000080370) - c.218G>T (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs444606504 | 75 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50752865T>G Codon: GTC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752865T>G Locations: - p.Val75Gly (Ensembl:ENSBTAT00000080370) - c.224T>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs474877514 | 77 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50752871T>G Codon: CTC/CGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752871T>G Locations: - p.Leu77Arg (Ensembl:ENSBTAT00000080370) - c.230T>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs440376991 | 80 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50752880C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752880C>A Locations: - p.Pro80His (Ensembl:ENSBTAT00000080370) - c.239C>A (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs477439248 | 86 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50752898A>C Codon: CAT/CCT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752898A>C Locations: - p.His86Pro (Ensembl:ENSBTAT00000080370) - c.257A>C (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs439520807 | 87 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.50752901A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50752901A>G Locations: - p.Gln87Arg (Ensembl:ENSBTAT00000080370) - c.260A>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs451493102 | 88 | E>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50753165A>C Codon: GAA/GCA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753165A>C Locations: - p.Glu88Ala (Ensembl:ENSBTAT00000080370) - c.263A>C (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs471643428 | 88 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50753166A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753166A>C Locations: - p.Glu88Asp (Ensembl:ENSBTAT00000080370) - c.264A>C (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs473659977 | 89 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.50753169C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753169C>A Locations: - p.Asn89Lys (Ensembl:ENSBTAT00000080370) - c.267C>A (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs456885746 | 89 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50753168A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753168A>C Locations: - p.Asn89Thr (Ensembl:ENSBTAT00000080370) - c.266A>C (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs443378276 | 89 | N>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.50753167A>T Codon: AAC/TAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753167A>T Locations: - p.Asn89Tyr (Ensembl:ENSBTAT00000080370) - c.265A>T (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs442379189 | 91 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: NC_037349.1:g.50753175G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753175G>C Locations: - p.Lys91Asn (Ensembl:ENSBTAT00000080370) - c.273G>C (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs459228804 | 92 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50753177A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753177A>C Locations: - p.Asn92Thr (Ensembl:ENSBTAT00000080370) - c.275A>C (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs479202058 | 95 | I>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50753186T>G Codon: ATC/AGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753186T>G Locations: - p.Ile95Ser (Ensembl:ENSBTAT00000080370) - c.284T>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs464140853 | 98 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_037349.1:g.50753195G>C Codon: TGC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753195G>C Locations: - p.Cys98Ser (Ensembl:ENSBTAT00000080370) - c.293G>C (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs458354148 | 101 | Y>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50753203T>G Codon: TAC/GAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753203T>G Locations: - p.Tyr101Asp (Ensembl:ENSBTAT00000080370) - c.301T>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs478473323 | 109 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50753229G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753229G>T Locations: - p.Glu109Asp (Ensembl:ENSBTAT00000080370) - c.327G>T (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs463862745 | 127 | P>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037349.1:g.50753282C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753282C>G Locations: - p.Pro127Arg (Ensembl:ENSBTAT00000080370) - c.380C>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs3423499080 | 135 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.87) Somatic: No Accession: NC_037349.1:g.50753306T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753306T>C Locations: - p.Val135Ala (Ensembl:ENSBTAT00000080370) - c.404T>C (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs3423488747 | 135 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_037349.1:g.50753305G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753305G>A Locations: - p.Val135Ile (Ensembl:ENSBTAT00000080370) - c.403G>A (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs480667691 | 166 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.50753399A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753399A>G Locations: - p.Asn166Ser (Ensembl:ENSBTAT00000080370) - c.497A>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs466208195 | 170 | F>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50753411T>G Codon: TTC/TGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753411T>G Locations: - p.Phe170Cys (Ensembl:ENSBTAT00000080370) - c.509T>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs466208195 | 170 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50753411T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753411T>C Locations: - p.Phe170Ser (Ensembl:ENSBTAT00000080370) - c.509T>C (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs445159890 | 171 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50753414T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753414T>G Locations: - p.Leu171Arg (Ensembl:ENSBTAT00000080370) - c.512T>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs436996752 | 172 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50753417T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753417T>A Locations: - p.Val172Glu (Ensembl:ENSBTAT00000080370) - c.515T>A (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs436996752 | 172 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50753417T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753417T>G Locations: - p.Val172Gly (Ensembl:ENSBTAT00000080370) - c.515T>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs465186354 | 172 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50753416G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753416G>T Locations: - p.Val172Leu (Ensembl:ENSBTAT00000080370) - c.514G>T (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs473798921 | 173 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037349.1:g.50753419G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753419G>C Locations: - p.Gly173Arg (Ensembl:ENSBTAT00000080370) - c.517G>C (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs452874055 | 174 | P>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_037349.1:g.50753422C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753422C>G Locations: - p.Pro174Ala (Ensembl:ENSBTAT00000080370) - c.520C>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs473062450 | 174 | P>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037349.1:g.50753423C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753423C>A Locations: - p.Pro174Gln (Ensembl:ENSBTAT00000080370) - c.521C>A (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs438355378 | 180 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037349.1:g.50753440C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753440C>G Locations: - p.Arg180Gly (Ensembl:ENSBTAT00000080370) - c.538C>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs472034896 | 182 | Y>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50753446T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753446T>A Locations: - p.Tyr182Asn (Ensembl:ENSBTAT00000080370) - c.544T>A (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs443847010 | 183 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50753450G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753450G>C Locations: - p.Ser183Thr (Ensembl:ENSBTAT00000080370) - c.548G>C (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs464001285 | 186 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037349.1:g.50753460T>A Codon: TTT/TTA Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753460T>A Locations: - p.Phe186Leu (Ensembl:ENSBTAT00000080370) - c.558T>A (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs480808741 | 188 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037349.1:g.50753464A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753464A>T Locations: - p.Thr188Ser (Ensembl:ENSBTAT00000080370) - c.562A>T (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs449437429 | 191 | I>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50753474T>G Codon: ATC/AGC Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753474T>G Locations: - p.Ile191Ser (Ensembl:ENSBTAT00000080370) - c.572T>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs459818193 | 194 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037349.1:g.50753484C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753484C>G Locations: - p.Asp194Glu (Ensembl:ENSBTAT00000080370) - c.582C>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs479879068 | 195 | I>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50753486T>G Codon: ATT/AGT Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753486T>G Locations: - p.Ile195Ser (Ensembl:ENSBTAT00000080370) - c.584T>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs445148949 | 198 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037349.1:g.50753495T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753495T>A Locations: - p.Leu198Gln (Ensembl:ENSBTAT00000080370) - c.593T>A (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs465269669 | 201 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037349.1:g.50753503C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NC_037349.1:g.50753503C>T Locations: - p.Gln201Ter (Ensembl:ENSBTAT00000080370) - c.601C>T (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: | |||||||
rs437124111 | 201 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: NC_037349.1:g.50753504A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: Genomic location: NC_037349.1:g.50753504A>G Locations: - p.Gln201Arg (Ensembl:ENSBTAT00000080370) - c.602A>G (Ensembl:ENSBTAT00000080370) Source type: large scale study Cross-references: |