Q05588 · UPAR_BOVIN
- ProteinUrokinase plasminogen activator surface receptor
- GenePLAUR
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids330 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score4/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs132850384 | 27 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.55) Somatic: No Accession: NC_037345.1:g.51876468C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51876468C>T Locations: - p.Glu27Lys (Ensembl:ENSBTAT00000017446) - c.79G>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs441646476 | 28 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_037345.1:g.51876464T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51876464T>C Locations: - p.Asn28Ser (Ensembl:ENSBTAT00000017446) - c.83A>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs135438218 | 29 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_037345.1:g.51876461G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51876461G>A Locations: - p.Thr29Met (Ensembl:ENSBTAT00000017446) - c.86C>T (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs472952547 | 32 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51876452C>G Codon: TGC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51876452C>G Locations: - p.Cys32Ser (Ensembl:ENSBTAT00000017446) - c.95G>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs460041999 | 33 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.59) Somatic: No Accession: NC_037345.1:g.51876448A>T Codon: AGT/AGA Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51876448A>T Locations: - p.Ser33Arg (Ensembl:ENSBTAT00000017446) - c.99T>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs439881575 | 35 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037345.1:g.51876444C>A Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: Genomic location: NC_037345.1:g.51876444C>A Locations: - p.Glu35Ter (Ensembl:ENSBTAT00000017446) - c.103G>T (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs471203487 | 37 | C>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51876438A>C Codon: TGT/GGT Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51876438A>C Locations: - p.Cys37Gly (Ensembl:ENSBTAT00000017446) - c.109T>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs471203487 | 37 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51876438A>T Codon: TGT/AGT Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51876438A>T Locations: - p.Cys37Ser (Ensembl:ENSBTAT00000017446) - c.109T>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs876266507 | 38 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_037345.1:g.51876435T>A Codon: ACT/TCT Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51876435T>A Locations: - p.Thr38Ser (Ensembl:ENSBTAT00000017446) - c.112A>T (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs457522942 | 40 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51876428C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51876428C>A Locations: - p.Gly40Val (Ensembl:ENSBTAT00000017446) - c.119G>T (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs437325397 | 42 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_037345.1:g.51876423C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51876423C>T Locations: - p.Asp42Asn (Ensembl:ENSBTAT00000017446) - c.124G>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs474932255 | 44 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51876417A>T Codon: TGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51876417A>T Locations: - p.Cys44Ser (Ensembl:ENSBTAT00000017446) - c.130T>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs434756146 | 47 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51876408T>G Codon: ACG/CCG Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51876408T>G Locations: - p.Thr47Pro (Ensembl:ENSBTAT00000017446) - c.139A>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs466173074 | 49 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.57) Somatic: No Accession: NC_037345.1:g.51876402G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51876402G>T Locations: - p.Leu49Met (Ensembl:ENSBTAT00000017446) - c.145C>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs446752124 | 50 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_037345.1:g.51876397A>C Codon: AGT/AGG Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51876397A>C Locations: - p.Ser50Arg (Ensembl:ENSBTAT00000017446) - c.150T>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs464356246 | 51 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.43) Somatic: No Accession: NC_037345.1:g.51876395A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51876395A>T Locations: - p.Val51Glu (Ensembl:ENSBTAT00000017446) - c.152T>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs464356246 | 51 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_037345.1:g.51876395A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51876395A>C Locations: - p.Val51Gly (Ensembl:ENSBTAT00000017446) - c.152T>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs433047207 | 51 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.56) Somatic: No Accession: NC_037345.1:g.51876396C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51876396C>A Locations: - p.Val51Leu (Ensembl:ENSBTAT00000017446) - c.151G>T (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs481972051 | 52 | W>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51876393A>C Codon: TGG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51876393A>C Locations: - p.Trp52Gly (Ensembl:ENSBTAT00000017446) - c.154T>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs461850550 | 52 | W>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037345.1:g.51876392C>G Codon: TGG/TCG Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51876392C>G Locations: - p.Trp52Ser (Ensembl:ENSBTAT00000017446) - c.155G>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs448178025 | 53 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_037345.1:g.51876389T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51876389T>C Locations: - p.Glu53Gly (Ensembl:ENSBTAT00000017446) - c.158A>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs453661782 | 94 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: NC_037345.1:g.51874882C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51874882C>T Locations: - p.Asp94Asn (Ensembl:ENSBTAT00000017446) - c.280G>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs457320961 | 115 | C>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51869132A>C Codon: TGT/TGG Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51869132A>C Locations: - p.Cys115Trp (Ensembl:ENSBTAT00000017446) - c.345T>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs1118258101 | 119 | S>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_037345.1:g.51869122A>C Codon: TCC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51869122A>C Locations: - p.Ser119Ala (Ensembl:ENSBTAT00000017446) - c.355T>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs1118276044 | 124 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_037345.1:g.51869106C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51869106C>G Locations: - p.Ser124Thr (Ensembl:ENSBTAT00000017446) - c.371G>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs1118269641 | 132 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_037345.1:g.51869082G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51869082G>C Locations: - p.Thr132Ser (Ensembl:ENSBTAT00000017446) - c.395C>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs443666993 | 134 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037345.1:g.51869075T>G Codon: CAA/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51869075T>G Locations: - p.Gln134His (Ensembl:ENSBTAT00000017446) - c.402A>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs474844788 | 147 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_037345.1:g.51869038T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51869038T>G Locations: - p.Thr147Pro (Ensembl:ENSBTAT00000017446) - c.439A>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs454933604 | 150 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_037345.1:g.51869029T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51869029T>G Locations: - p.Ser150Arg (Ensembl:ENSBTAT00000017446) - c.448A>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs443524177 | 165 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51868221C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51868221C>G Locations: - p.Gly165Ala (Ensembl:ENSBTAT00000017446) - c.494G>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs463701310 | 165 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51868222C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51868222C>A Locations: - p.Gly165Cys (Ensembl:ENSBTAT00000017446) - c.493G>T (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs133094256 | 174 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_037345.1:g.51868195T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51868195T>G Locations: - p.Thr174Pro (Ensembl:ENSBTAT00000017446) - c.520A>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs137391149 | 177 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51868185T>G Codon: CAC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51868185T>G Locations: - p.His177Pro (Ensembl:ENSBTAT00000017446) - c.530A>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs133755258 | 186 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: NC_037345.1:g.51868158C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51868158C>T Locations: - p.Arg186Gln (Ensembl:ENSBTAT00000017446) - c.557G>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs445096400 | 202 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_037345.1:g.51866680T>C Codon: CAA/CGA Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51866680T>C Locations: - p.Gln202Arg (Ensembl:ENSBTAT00000017446) - c.605A>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs482652913 | 203 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037345.1:g.51866677T>A Codon: AAC/ATC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51866677T>A Locations: - p.Asn203Ile (Ensembl:ENSBTAT00000017446) - c.608A>T (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs482652913 | 203 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_037345.1:g.51866677T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51866677T>G Locations: - p.Asn203Thr (Ensembl:ENSBTAT00000017446) - c.608A>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs469188385 | 204 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51866674A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51866674A>C Locations: - p.Leu204Arg (Ensembl:ENSBTAT00000017446) - c.611T>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs480373885 | 210 | Q>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037345.1:g.51866657G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51866657G>C Locations: - p.Gln210Glu (Ensembl:ENSBTAT00000017446) - c.628C>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs440042403 | 212 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037345.1:g.51866649G>T Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: Genomic location: NC_037345.1:g.51866649G>T Locations: - p.Tyr212Ter (Ensembl:ENSBTAT00000017446) - c.636C>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs477785909 | 213 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51866646G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51866646G>C Locations: - p.Ser213Arg (Ensembl:ENSBTAT00000017446) - c.639C>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs458472884 | 214 | C>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51866643A>C Codon: TGT/TGG Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51866643A>C Locations: - p.Cys214Trp (Ensembl:ENSBTAT00000017446) - c.642T>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs476038187 | 215 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51866641T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51866641T>C Locations: - p.Glu215Gly (Ensembl:ENSBTAT00000017446) - c.644A>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs444721766 | 215 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_037345.1:g.51866642C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51866642C>T Locations: - p.Glu215Lys (Ensembl:ENSBTAT00000017446) - c.643G>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs455931081 | 220 | H>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_037345.1:g.51866627G>C Codon: CAC/GAC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51866627G>C Locations: - p.His220Asp (Ensembl:ENSBTAT00000017446) - c.658C>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs442163862 | 223 | S>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51866617G>T Codon: TCT/TAT Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51866617G>T Locations: - p.Ser223Tyr (Ensembl:ENSBTAT00000017446) - c.668C>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs453243058 | 230 | I>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037345.1:g.51866596A>C Codon: ATT/AGT Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51866596A>C Locations: - p.Ile230Ser (Ensembl:ENSBTAT00000017446) - c.689T>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs433196318 | 231 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.52) Somatic: No Accession: NC_037345.1:g.51866592G>T, NC_037345.1:g.51866592G>C Codon: GAC/GAA Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51866592G>T, NC_037345.1:g.51866592G>C Locations: - p.Asp231Glu (Ensembl:ENSBTAT00000017446) - c.693C>A (Ensembl:ENSBTAT00000017446) - c.693C>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs437873130 | 233 | R>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51866587C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51866587C>G Locations: - p.Arg233Pro (Ensembl:ENSBTAT00000017446) - c.698G>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs451530830 | 233 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51866588G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51866588G>T Locations: - p.Arg233Ser (Ensembl:ENSBTAT00000017446) - c.697C>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs469228163 | 235 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037345.1:g.51866582G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51866582G>A Locations: - p.Pro235Ser (Ensembl:ENSBTAT00000017446) - c.703C>T (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs480435828 | 238 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_037345.1:g.51866571T>A Codon: CAA/CAT Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51866571T>A Locations: - p.Gln238His (Ensembl:ENSBTAT00000017446) - c.714A>T (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs449076293 | 238 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037345.1:g.51866573G>T Codon: CAA/AAA Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51866573G>T Locations: - p.Gln238Lys (Ensembl:ENSBTAT00000017446) - c.712C>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs466727074 | 239 | C>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51866570A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51866570A>G Locations: - p.Cys239Arg (Ensembl:ENSBTAT00000017446) - c.715T>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs477822838 | 240 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51866566A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51866566A>C Locations: - p.Leu240Arg (Ensembl:ENSBTAT00000017446) - c.719T>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs446554009 | 240 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037345.1:g.51866567G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51866567G>C Locations: - p.Leu240Val (Ensembl:ENSBTAT00000017446) - c.718C>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs482592615 | 244 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51866554C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51866554C>A Locations: - p.Gly244Val (Ensembl:ENSBTAT00000017446) - c.731G>T (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs462376751 | 245 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037345.1:g.51866551G>T Codon: ACT/AAT Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51866551G>T Locations: - p.Thr245Asn (Ensembl:ENSBTAT00000017446) - c.734C>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs473584880 | 246 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.92) Somatic: No Accession: NC_037345.1:g.51866547T>G Codon: AAA/AAC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51866547T>G Locations: - p.Lys246Asn (Ensembl:ENSBTAT00000017446) - c.738A>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs453314530 | 247 | G>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037345.1:g.51866546C>A Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: Genomic location: NC_037345.1:g.51866546C>A Locations: - p.Gly247Ter (Ensembl:ENSBTAT00000017446) - c.739G>T (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs480085739 | 250 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_037345.1:g.51865637T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865637T>C Locations: - p.Asn250Asp (Ensembl:ENSBTAT00000017446) - c.748A>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs459796156 | 250 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_037345.1:g.51865635G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865635G>T Locations: - p.Asn250Lys (Ensembl:ENSBTAT00000017446) - c.750C>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs439734827 | 254 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51865625T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865625T>A Locations: - p.Thr254Ser (Ensembl:ENSBTAT00000017446) - c.760A>T (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs470913883 | 255 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51865620G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865620G>C Locations: - p.Ile255Met (Ensembl:ENSBTAT00000017446) - c.765C>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs463648677 | 256 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: NC_037345.1:g.51865618C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865618C>T Locations: - p.Arg256Lys (Ensembl:ENSBTAT00000017446) - c.767G>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs443662262 | 257 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51865615C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865615C>T Locations: - p.Gly257Asp (Ensembl:ENSBTAT00000017446) - c.770G>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs475007231 | 258 | C>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51865611G>C Codon: TGC/TGG Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865611G>C Locations: - p.Cys258Trp (Ensembl:ENSBTAT00000017446) - c.774C>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs41890337 | 259 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_037345.1:g.51865610C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865610C>T Locations: - p.Ala259Thr (Ensembl:ENSBTAT00000017446) - c.775G>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs435462480 | 264 | C>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51865595A>C Codon: TGC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865595A>C Locations: - p.Cys264Gly (Ensembl:ENSBTAT00000017446) - c.790T>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs435462480 | 264 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51865595A>T Codon: TGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865595A>T Locations: - p.Cys264Ser (Ensembl:ENSBTAT00000017446) - c.790T>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs473258258 | 264 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51865594C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865594C>T Locations: - p.Cys264Tyr (Ensembl:ENSBTAT00000017446) - c.791G>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs453147354 | 267 | L>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_037345.1:g.51865585A>T Codon: CTC/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865585A>T Locations: - p.Leu267His (Ensembl:ENSBTAT00000017446) - c.800T>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs432901085 | 268 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_037345.1:g.51865582T>G Codon: CAC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865582T>G Locations: - p.His268Pro (Ensembl:ENSBTAT00000017446) - c.803A>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs450489338 | 271 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_037345.1:g.51865573T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865573T>C Locations: - p.Glu271Gly (Ensembl:ENSBTAT00000017446) - c.812A>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs464264958 | 271 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_037345.1:g.51865574C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865574C>T Locations: - p.Glu271Lys (Ensembl:ENSBTAT00000017446) - c.811G>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs436833597 | 275 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037345.1:g.51865561A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865561A>G Locations: - p.Leu275Pro (Ensembl:ENSBTAT00000017446) - c.824T>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs468133397 | 276 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_037345.1:g.51865559T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865559T>G Locations: - p.Thr276Pro (Ensembl:ENSBTAT00000017446) - c.826A>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs448030990 | 276 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: NC_037345.1:g.51865558G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865558G>C Locations: - p.Thr276Ser (Ensembl:ENSBTAT00000017446) - c.827C>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs480194903 | 280 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_037345.1:g.51865547C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865547C>T Locations: - p.Val280Ile (Ensembl:ENSBTAT00000017446) - c.838G>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs446216215 | 284 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_037345.1:g.51865535T>G Codon: ACT/CCT Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865535T>G Locations: - p.Thr284Pro (Ensembl:ENSBTAT00000017446) - c.850A>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs443672224 | 286 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_037345.1:g.51865527A>C Codon: AGT/AGG Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865527A>C Locations: - p.Ser286Arg (Ensembl:ENSBTAT00000017446) - c.858T>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs382879079 | 287 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_037345.1:g.51865526C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865526C>T Locations: - p.Gly287Ser (Ensembl:ENSBTAT00000017446) - c.859G>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs475063801 | 288 | C>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51865523A>C Codon: TGT/GGT Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865523A>C Locations: - p.Cys288Gly (Ensembl:ENSBTAT00000017446) - c.862T>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs461319436 | 289 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51865519T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865519T>G Locations: - p.Asn289Thr (Ensembl:ENSBTAT00000017446) - c.866A>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs473297257 | 293 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.75) Somatic: No Accession: NC_037345.1:g.51865506C>A Codon: AGG/AGT Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865506C>A Locations: - p.Arg293Ser (Ensembl:ENSBTAT00000017446) - c.879G>T (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs432987154 | 294 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_037345.1:g.51865503A>C Codon: GAT/GAG Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865503A>C Locations: - p.Asp294Glu (Ensembl:ENSBTAT00000017446) - c.882T>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs453186551 | 294 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037345.1:g.51865504T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865504T>C Locations: - p.Asp294Gly (Ensembl:ENSBTAT00000017446) - c.881A>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs1118266959 | 295 | D>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.98) Somatic: No Accession: NC_037345.1:g.51865501T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865501T>G Locations: - p.Asp295Ala (Ensembl:ENSBTAT00000017446) - c.884A>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs470779470 | 297 | P>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.46) Somatic: No Accession: NC_037345.1:g.51865496G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865496G>C Locations: - p.Pro297Ala (Ensembl:ENSBTAT00000017446) - c.889C>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs457059298 | 297 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.55) Somatic: No Accession: NC_037345.1:g.51865495G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865495G>T Locations: - p.Pro297His (Ensembl:ENSBTAT00000017446) - c.890C>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs1118261811 | 298 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_037345.1:g.51865493C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865493C>G Locations: - p.Gly298Arg (Ensembl:ENSBTAT00000017446) - c.892G>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs436896206 | 299 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_037345.1:g.51865490T>A Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NC_037345.1:g.51865490T>A Locations: - p.Lys299Ter (Ensembl:ENSBTAT00000017446) - c.895A>T (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs436896206 | 299 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.53) Somatic: No Accession: NC_037345.1:g.51865490T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865490T>C Locations: - p.Lys299Glu (Ensembl:ENSBTAT00000017446) - c.895A>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs436896206 | 299 | K>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.31) Somatic: No Accession: NC_037345.1:g.51865490T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865490T>G Locations: - p.Lys299Gln (Ensembl:ENSBTAT00000017446) - c.895A>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs468267774 | 301 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_037345.1:g.51865484C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865484C>T Locations: - p.Gly301Ser (Ensembl:ENSBTAT00000017446) - c.901G>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs454445960 | 302 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_037345.1:g.51865480G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865480G>C Locations: - p.Ala302Gly (Ensembl:ENSBTAT00000017446) - c.905C>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs434309600 | 305 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_037345.1:g.51865472T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865472T>G Locations: - p.Thr305Pro (Ensembl:ENSBTAT00000017446) - c.913A>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs446302024 | 306 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_037345.1:g.51865469T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865469T>C Locations: - p.Ser306Gly (Ensembl:ENSBTAT00000017446) - c.916A>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs446302024 | 306 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_037345.1:g.51865469T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865469T>G Locations: - p.Ser306Arg (Ensembl:ENSBTAT00000017446) - c.916A>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs477438026 | 307 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51865465G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865465G>A Locations: - p.Pro307Leu (Ensembl:ENSBTAT00000017446) - c.920C>T (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs450228570 | 313 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.43) Somatic: No Accession: NC_037345.1:g.51865448A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865448A>G Locations: - p.Phe313Leu (Ensembl:ENSBTAT00000017446) - c.937T>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs461402427 | 319 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_037345.1:g.51865430T>G Codon: ACT/CCT Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865430T>G Locations: - p.Thr319Pro (Ensembl:ENSBTAT00000017446) - c.955A>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs441199347 | 320 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_037345.1:g.51865427C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865427C>A Locations: - p.Ala320Ser (Ensembl:ENSBTAT00000017446) - c.958G>T (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs478996987 | 323 | W>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_037345.1:g.51865418A>C Codon: TGG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865418A>C Locations: - p.Trp323Gly (Ensembl:ENSBTAT00000017446) - c.967T>G (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs459684899 | 326 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_037345.1:g.51865409T>G Codon: ACT/CCT Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865409T>G Locations: - p.Thr326Pro (Ensembl:ENSBTAT00000017446) - c.976A>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs443366996 | 329 | C>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_037345.1:g.51865399C>A Codon: TGC/TTC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865399C>A Locations: - p.Cys329Phe (Ensembl:ENSBTAT00000017446) - c.986G>T (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs457099116 | 329 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037345.1:g.51865400A>T Codon: TGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865400A>T Locations: - p.Cys329Ser (Ensembl:ENSBTAT00000017446) - c.985T>A (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs474720762 | 330 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037345.1:g.51865397T>G Codon: ACT/CCT Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865397T>G Locations: - p.Thr330Pro (Ensembl:ENSBTAT00000017446) - c.988A>C (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: | |||||||
rs474720762 | 330 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_037345.1:g.51865397T>A Codon: ACT/TCT Consequence type: missense Cytogenetic band: Genomic location: NC_037345.1:g.51865397T>A Locations: - p.Thr330Ser (Ensembl:ENSBTAT00000017446) - c.988A>T (Ensembl:ENSBTAT00000017446) Source type: large scale study Cross-references: |