A0A286YDT5 · A0A286YDT5_MOUSE
- ProteinAdhesion G protein-coupled receptor F5
- GeneAdgrf5
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids1143 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389455119 | 6 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000083.7:g.43737920G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43737920G>C Locations: - p.Gln6His (Ensembl:ENSMUST00000225962) - c.18G>C (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389475626 | 12 | Y>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.43737936T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43737936T>C Locations: - p.Tyr12His (Ensembl:ENSMUST00000225962) - c.34T>C (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389413137 | 41 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.43739384A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43739384A>T Locations: - p.Asn41Ile (Ensembl:ENSMUST00000225962) - c.122A>T (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3408038438 | 42 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000083.7:g.43739386G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43739386G>T Locations: - p.Val42Leu (Ensembl:ENSMUST00000225962) - c.124G>T (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389413119 | 53 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.47) Somatic: No Accession: NC_000083.7:g.43739419T>A Codon: TCC/ACC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43739419T>A Locations: - p.Ser53Thr (Ensembl:ENSMUST00000225962) - c.157T>A (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389433869 | 59 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000083.7:g.43739438A>T Codon: TAT/TTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43739438A>T Locations: - p.Tyr59Phe (Ensembl:ENSMUST00000225962) - c.176A>T (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389422750 | 67 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000083.7:g.43739463G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43739463G>T Locations: - p.Gln67His (Ensembl:ENSMUST00000225962) - c.201G>T (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389455126 | 71 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.43739473A>T Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.43739473A>T Locations: - p.Lys71Ter (Ensembl:ENSMUST00000225962) - c.211A>T (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3553456713 | 89 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000083.7:g.43739528C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43739528C>T Locations: - p.Thr89Ile (Ensembl:ENSMUST00000225962) - c.266C>T (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389458054 | 117 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.65) Somatic: No Accession: NC_000083.7:g.43741450A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43741450A>T Locations: - p.Lys117Asn (Ensembl:ENSMUST00000225962) - c.351A>T (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389422744 | 151 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000083.7:g.43741552C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43741552C>A Locations: - p.Asn151Lys (Ensembl:ENSMUST00000225962) - c.453C>A (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389443017 | 170 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.59) Somatic: No Accession: NC_000083.7:g.43748417A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43748417A>T Locations: - p.Glu170Asp (Ensembl:ENSMUST00000225962) - c.510A>T (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389479676 | 178 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.43748440G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43748440G>A Locations: - p.Ser178Asn (Ensembl:ENSMUST00000225962) - c.533G>A (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389455061 | 181 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000083.7:g.43748449C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43748449C>T Locations: - p.Thr181Met (Ensembl:ENSMUST00000225962) - c.542C>T (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389413106 | 235 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.43750599G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.43750599G>T Locations: - p.Glu235Ter (Ensembl:ENSMUST00000225962) - c.703G>T (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389455067 | 253 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.43750654G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43750654G>A Locations: - p.Ser253Asn (Ensembl:ENSMUST00000225962) - c.758G>A (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs244782035 | 263 | P>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.58) Somatic: No Accession: NC_000083.7:g.43750684C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43750684C>A Locations: - p.Pro263Gln (Ensembl:ENSMUST00000225962) - c.788C>A (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3508119664 | 284 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.43750901A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43750901A>G Locations: - p.Thr284Ala (Ensembl:ENSMUST00000225962) - c.850A>G (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389424272 | 290 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.43750920G>T Codon: AGT/ATT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43750920G>T Locations: - p.Ser290Ile (Ensembl:ENSMUST00000225962) - c.869G>T (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389424272 | 290 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000083.7:g.43750920G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43750920G>A Locations: - p.Ser290Asn (Ensembl:ENSMUST00000225962) - c.869G>A (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3407645684 | 293 | D>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.43750929A>C Codon: GAT/GCT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43750929A>C Locations: - p.Asp293Ala (Ensembl:ENSMUST00000225962) - c.878A>C (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3407686529 | 296 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.57) Somatic: No Accession: NC_000083.7:g.43750938A>T Codon: TAC/TTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43750938A>T Locations: - p.Tyr296Phe (Ensembl:ENSMUST00000225962) - c.887A>T (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3407710622 | 297 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.43750941G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.43750941G>A Locations: - p.Trp297Ter (Ensembl:ENSMUST00000225962) - c.890G>A (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3407755641 | 297 | W>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.43750940T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43750940T>C Locations: - p.Trp297Arg (Ensembl:ENSMUST00000225962) - c.889T>C (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389464662 | 314 | R>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000083.7:g.43750992G>T Codon: AGG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43750992G>T Locations: - p.Arg314Met (Ensembl:ENSMUST00000225962) - c.941G>T (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs227892671 | 326 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_000083.7:g.43751029G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43751029G>T Locations: - p.Lys326Asn (Ensembl:ENSMUST00000225962) - c.978G>T (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389473131 | 348 | I>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.43752717T>G Codon: ATT/AGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43752717T>G Locations: - p.Ile348Ser (Ensembl:ENSMUST00000225962) - c.1043T>G (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs51535437 | 388 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.43752837A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43752837A>T Locations: - p.Asp388Val (Ensembl:ENSMUST00000225962) - c.1163A>T (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs222115699 | 391 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000083.7:g.43752845G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43752845G>A Locations: - p.Glu391Lys (Ensembl:ENSMUST00000225962) - c.1171G>A (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3407710621 | 441 | A>W | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.43755978_43755979insTGGTGAAGTG Codon: -/TGGTGAAGTG Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.43755978_43755979insTGGTGAAGTG Locations: - p.Ala441TrpfsTer2 (Ensembl:ENSMUST00000225962) - c.1320_1321insTGGTGAAGTG (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs247533009 | 457 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000083.7:g.43756027C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43756027C>T Locations: - p.Pro457Ser (Ensembl:ENSMUST00000225962) - c.1369C>T (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389413096 | 461 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.97) Somatic: No Accession: NC_000083.7:g.43756903G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43756903G>A Locations: - p.Val461Ile (Ensembl:ENSMUST00000225962) - c.1381G>A (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3407869513 | 463 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000083.7:g.43756910G>C Codon: TGC/TCC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43756910G>C Locations: - p.Cys463Ser (Ensembl:ENSMUST00000225962) - c.1388G>C (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389376593 | 468 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000083.7:g.43756925T>A Codon: ATT/AAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43756925T>A Locations: - p.Ile468Asn (Ensembl:ENSMUST00000225962) - c.1403T>A (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs238666175 | 472 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.43756938T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43756938T>G Locations: - p.Asp472Glu (Ensembl:ENSMUST00000225962) - c.1416T>G (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs47930230 | 490 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000083.7:g.43756990C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43756990C>T Locations: - p.Pro490Ser (Ensembl:ENSMUST00000225962) - c.1468C>T (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389433871 | 494 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.43757003T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43757003T>C Locations: - p.Ile494Thr (Ensembl:ENSMUST00000225962) - c.1481T>C (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389455131 | 513 | A>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.43757060C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43757060C>A Locations: - p.Ala513Asp (Ensembl:ENSMUST00000225962) - c.1538C>A (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389459615 | 518 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000083.7:g.43757074C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43757074C>T Locations: - p.Pro518Ser (Ensembl:ENSMUST00000225962) - c.1552C>T (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389443020 | 520 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000083.7:g.43757080A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43757080A>G Locations: - p.Asn520Asp (Ensembl:ENSMUST00000225962) - c.1558A>G (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389473107 | 534 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000083.7:g.43757783C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43757783C>T Locations: - p.Thr534Ile (Ensembl:ENSMUST00000225962) - c.1601C>T (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389376531 | 576 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000083.7:g.43757909C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43757909C>T Locations: - p.Thr576Met (Ensembl:ENSMUST00000225962) - c.1727C>T (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs46753646 | 593 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.43760698A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43760698A>G Locations: - p.Ile593Val (Ensembl:ENSMUST00000225962) - c.1777A>G (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389466483 | 609 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.43760747T>C Codon: CTA/CCA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43760747T>C Locations: - p.Leu609Pro (Ensembl:ENSMUST00000225962) - c.1826T>C (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3407086655 | 610 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.43760749C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.43760749C>T Locations: - p.Gln610Ter (Ensembl:ENSMUST00000225962) - c.1828C>T (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389473192 | 622 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.43760785T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43760785T>C Locations: - p.Ser622Pro (Ensembl:ENSMUST00000225962) - c.1864T>C (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs108730532 | 641 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000083.7:g.43760843C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43760843C>T Locations: - p.Ala641Val (Ensembl:ENSMUST00000225962) - c.1922C>T (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389424258 | 656 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000083.7:g.43760887C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43760887C>T Locations: - p.His656Tyr (Ensembl:ENSMUST00000225962) - c.1966C>T (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389475660 | 664 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.43760911T>A Codon: TTT/ATT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43760911T>A Locations: - p.Phe664Ile (Ensembl:ENSMUST00000225962) - c.1990T>A (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs50571176 | 714 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.43761062A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43761062A>G Locations: - p.Asn714Ser (Ensembl:ENSMUST00000225962) - c.2141A>G (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3553144777 | 718 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.83) Somatic: No Accession: NC_000083.7:g.43761075G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43761075G>A Locations: - p.Met718Ile (Ensembl:ENSMUST00000225962) - c.2154G>A (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3508121397 | 745 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.52) Somatic: No Accession: NC_000083.7:g.43761155A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43761155A>G Locations: - p.Lys745Arg (Ensembl:ENSMUST00000225962) - c.2234A>G (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389458185 | 819 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.43761377T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43761377T>C Locations: - p.Phe819Ser (Ensembl:ENSMUST00000225962) - c.2456T>C (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389466517 | 838 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.43761433G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43761433G>T Locations: - p.Val838Leu (Ensembl:ENSMUST00000225962) - c.2512G>T (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389433925 | 992 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.43761896C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43761896C>A Locations: - p.Thr992Asn (Ensembl:ENSMUST00000225962) - c.2975C>A (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389464641 | 1033 | L>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.43762019T>A Codon: CTT/CAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43762019T>A Locations: - p.Leu1033His (Ensembl:ENSMUST00000225962) - c.3098T>A (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389479738 | 1127 | T>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.43766174C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43766174C>G Locations: - p.Thr1127Arg (Ensembl:ENSMUST00000225962) - c.3380C>G (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389413113 | 1128 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000083.7:g.43766176A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43766176A>G Locations: - p.Thr1128Ala (Ensembl:ENSMUST00000225962) - c.3382A>G (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389455124 | 1131 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000083.7:g.43766186C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43766186C>T Locations: - p.Ser1131Phe (Ensembl:ENSMUST00000225962) - c.3392C>T (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389463822 | 1139 | Y>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000083.7:g.43766209T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43766209T>A Locations: - p.Tyr1139Asn (Ensembl:ENSMUST00000225962) - c.3415T>A (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: | |||||||
rs3389463762 | 1144 | *>W | EVA | ||||
Consequence: stop lost Somatic: No Accession: NC_000083.7:g.43766225A>G Codon: TAG/TGG Consequence type: stop lost Cytogenetic band: 17q Genomic location: NC_000083.7:g.43766225A>G Locations: - p.Ter1144TrpextTer56 (Ensembl:ENSMUST00000225962) - c.3431A>G (Ensembl:ENSMUST00000225962) Source type: large scale study Cross-references: |