Q9JKX3 · TFR2_MOUSE
- ProteinTransferrin receptor protein 2
- GeneTfr2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids798 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388786664 | 6 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.137569287G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137569287G>T Locations: - p.Gly6Val (Ensembl:ENSMUST00000198866) - c.17G>T (Ensembl:ENSMUST00000198866) - p.Gly6Val (Ensembl:ENSMUST00000031729) - c.17G>T (Ensembl:ENSMUST00000031729) - p.Gly6Val (Ensembl:ENSMUST00000199054) - c.17G>T (Ensembl:ENSMUST00000199054) - p.Gly6Val (Ensembl:ENSMUST00000196471) - c.17G>T (Ensembl:ENSMUST00000196471) - p.Gly6Val (Ensembl:ENSMUST00000198783) - c.17G>T (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs32280663 | 8 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000071.7:g.137569292C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137569292C>T Locations: - p.Leu8Phe (Ensembl:ENSMUST00000198866) - c.22C>T (Ensembl:ENSMUST00000198866) - p.Leu8Phe (Ensembl:ENSMUST00000031729) - c.22C>T (Ensembl:ENSMUST00000031729) - p.Leu8Phe (Ensembl:ENSMUST00000199054) - c.22C>T (Ensembl:ENSMUST00000199054) - p.Leu8Phe (Ensembl:ENSMUST00000196471) - c.22C>T (Ensembl:ENSMUST00000196471) - p.Leu8Phe (Ensembl:ENSMUST00000198783) - c.22C>T (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs3388795707 | 11 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000071.7:g.137569301G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137569301G>A Locations: - p.Val11Met (Ensembl:ENSMUST00000198866) - c.31G>A (Ensembl:ENSMUST00000198866) - p.Val11Met (Ensembl:ENSMUST00000031729) - c.31G>A (Ensembl:ENSMUST00000031729) - p.Val11Met (Ensembl:ENSMUST00000199054) - c.31G>A (Ensembl:ENSMUST00000199054) - p.Val11Met (Ensembl:ENSMUST00000196471) - c.31G>A (Ensembl:ENSMUST00000196471) - p.Val11Met (Ensembl:ENSMUST00000198783) - c.31G>A (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs3388805234 | 13 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000071.7:g.137569542C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 5q Genomic location: NC_000071.7:g.137569542C>T Locations: - p.Gln13Ter (Ensembl:ENSMUST00000198866) - c.37C>T (Ensembl:ENSMUST00000198866) - p.Gln13Ter (Ensembl:ENSMUST00000031729) - c.37C>T (Ensembl:ENSMUST00000031729) - p.Gln13Ter (Ensembl:ENSMUST00000199054) - c.37C>T (Ensembl:ENSMUST00000199054) - p.Gln13Ter (Ensembl:ENSMUST00000196471) - c.37C>T (Ensembl:ENSMUST00000196471) - p.Gln13Ter (Ensembl:ENSMUST00000198783) - c.37C>T (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs1133898180 | 15 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.137569549C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137569549C>T Locations: - p.Ser15Phe (Ensembl:ENSMUST00000198866) - c.44C>T (Ensembl:ENSMUST00000198866) - p.Ser15Phe (Ensembl:ENSMUST00000031729) - c.44C>T (Ensembl:ENSMUST00000031729) - p.Ser15Phe (Ensembl:ENSMUST00000199054) - c.44C>T (Ensembl:ENSMUST00000199054) - p.Ser15Phe (Ensembl:ENSMUST00000196471) - c.44C>T (Ensembl:ENSMUST00000196471) - p.Ser15Phe (Ensembl:ENSMUST00000198783) - c.44C>T (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs3388791647 | 26 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000071.7:g.137569581G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137569581G>A Locations: - p.Val26Met (Ensembl:ENSMUST00000198866) - c.76G>A (Ensembl:ENSMUST00000198866) - p.Val26Met (Ensembl:ENSMUST00000031729) - c.76G>A (Ensembl:ENSMUST00000031729) - p.Val26Met (Ensembl:ENSMUST00000199054) - c.76G>A (Ensembl:ENSMUST00000199054) - p.Val26Met (Ensembl:ENSMUST00000196471) - c.76G>A (Ensembl:ENSMUST00000196471) - p.Val26Met (Ensembl:ENSMUST00000198783) - c.76G>A (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs3150213 | 42 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000071.7:g.137569630G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137569630G>T Locations: - p.Gly42Val (Ensembl:ENSMUST00000198866) - c.125G>T (Ensembl:ENSMUST00000198866) - p.Gly42Val (Ensembl:ENSMUST00000031729) - c.125G>T (Ensembl:ENSMUST00000031729) - p.Gly42Val (Ensembl:ENSMUST00000199054) - c.125G>T (Ensembl:ENSMUST00000199054) - p.Gly42Val (Ensembl:ENSMUST00000196471) - c.125G>T (Ensembl:ENSMUST00000196471) - p.Gly42Val (Ensembl:ENSMUST00000198783) - c.125G>T (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs3388800360 | 43 | A>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000071.7:g.137569633C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137569633C>A Locations: - p.Ala43Glu (Ensembl:ENSMUST00000198866) - c.128C>A (Ensembl:ENSMUST00000198866) - p.Ala43Glu (Ensembl:ENSMUST00000031729) - c.128C>A (Ensembl:ENSMUST00000031729) - p.Ala43Glu (Ensembl:ENSMUST00000199054) - c.128C>A (Ensembl:ENSMUST00000199054) - p.Ala43Glu (Ensembl:ENSMUST00000196471) - c.128C>A (Ensembl:ENSMUST00000196471) - p.Ala43Glu (Ensembl:ENSMUST00000198783) - c.128C>A (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs3388786741 | 45 | L>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000071.7:g.137569639T>A Codon: CTT/CAT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137569639T>A Locations: - p.Leu45His (Ensembl:ENSMUST00000198866) - c.134T>A (Ensembl:ENSMUST00000198866) - p.Leu45His (Ensembl:ENSMUST00000031729) - c.134T>A (Ensembl:ENSMUST00000031729) - p.Leu45His (Ensembl:ENSMUST00000199054) - c.134T>A (Ensembl:ENSMUST00000199054) - p.Leu45His (Ensembl:ENSMUST00000196471) - c.134T>A (Ensembl:ENSMUST00000196471) - p.Leu45His (Ensembl:ENSMUST00000198783) - c.134T>A (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs3388771547 | 52 | M>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000071.7:g.137569660T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137569660T>A Locations: - p.Met52Lys (Ensembl:ENSMUST00000198866) - c.155T>A (Ensembl:ENSMUST00000198866) - p.Met52Lys (Ensembl:ENSMUST00000031729) - c.155T>A (Ensembl:ENSMUST00000031729) - p.Met52Lys (Ensembl:ENSMUST00000199054) - c.155T>A (Ensembl:ENSMUST00000199054) - p.Met52Lys (Ensembl:ENSMUST00000196471) - c.155T>A (Ensembl:ENSMUST00000196471) - p.Met52Lys (Ensembl:ENSMUST00000198783) - c.155T>A (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs3388802725 | 88 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.137569767C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137569767C>A Locations: - p.Leu88Met (Ensembl:ENSMUST00000198866) - c.262C>A (Ensembl:ENSMUST00000198866) - p.Leu88Met (Ensembl:ENSMUST00000031729) - c.262C>A (Ensembl:ENSMUST00000031729) - p.Leu88Met (Ensembl:ENSMUST00000199054) - c.262C>A (Ensembl:ENSMUST00000199054) - p.Leu88Met (Ensembl:ENSMUST00000196471) - c.262C>A (Ensembl:ENSMUST00000196471) - p.Leu88Met (Ensembl:ENSMUST00000198783) - c.262C>A (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs46924709 | 97 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_000071.7:g.137569884C>A Codon: CTA/ATA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137569884C>A Locations: - p.Leu97Ile (Ensembl:ENSMUST00000198866) - c.289C>A (Ensembl:ENSMUST00000198866) - p.Leu97Ile (Ensembl:ENSMUST00000031729) - c.289C>A (Ensembl:ENSMUST00000031729) - p.Leu97Ile (Ensembl:ENSMUST00000199054) - c.289C>A (Ensembl:ENSMUST00000199054) - p.Leu97Ile (Ensembl:ENSMUST00000196471) - c.289C>A (Ensembl:ENSMUST00000196471) - p.Leu97Ile (Ensembl:ENSMUST00000198783) - c.289C>A (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs3388797731 | 115 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000071.7:g.137569938G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137569938G>A Locations: - p.Val115Met (Ensembl:ENSMUST00000198866) - c.343G>A (Ensembl:ENSMUST00000198866) - p.Val115Met (Ensembl:ENSMUST00000031729) - c.343G>A (Ensembl:ENSMUST00000031729) - p.Val115Met (Ensembl:ENSMUST00000199054) - c.343G>A (Ensembl:ENSMUST00000199054) - p.Val115Met (Ensembl:ENSMUST00000196471) - c.343G>A (Ensembl:ENSMUST00000196471) - p.Val115Met (Ensembl:ENSMUST00000198783) - c.343G>A (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs387299876 | 151 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000071.7:g.137570047C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137570047C>A Locations: - p.Thr151Asn (Ensembl:ENSMUST00000198866) - c.452C>A (Ensembl:ENSMUST00000198866) - p.Thr151Asn (Ensembl:ENSMUST00000031729) - c.452C>A (Ensembl:ENSMUST00000031729) - p.Thr151Asn (Ensembl:ENSMUST00000199054) - c.452C>A (Ensembl:ENSMUST00000199054) - p.Thr151Asn (Ensembl:ENSMUST00000196471) - c.452C>A (Ensembl:ENSMUST00000196471) - p.Thr151Asn (Ensembl:ENSMUST00000198783) - c.452C>A (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs32281690 | 210 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000071.7:g.137572898G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137572898G>A Locations: - p.Asp210Asn (Ensembl:ENSMUST00000198866) - c.628G>A (Ensembl:ENSMUST00000198866) - p.Asp210Asn (Ensembl:ENSMUST00000031729) - c.628G>A (Ensembl:ENSMUST00000031729) - p.Asp210Asn (Ensembl:ENSMUST00000199054) - c.628G>A (Ensembl:ENSMUST00000199054) - p.Asp210Asn (Ensembl:ENSMUST00000196471) - c.628G>A (Ensembl:ENSMUST00000196471) - p.Asp210Asn (Ensembl:ENSMUST00000198783) - c.628G>A (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs32281691 | 226 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000071.7:g.137572946G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137572946G>A Locations: - p.Val226Ile (Ensembl:ENSMUST00000198866) - c.676G>A (Ensembl:ENSMUST00000198866) - p.Val226Ile (Ensembl:ENSMUST00000031729) - c.676G>A (Ensembl:ENSMUST00000031729) - p.Val226Ile (Ensembl:ENSMUST00000199054) - c.676G>A (Ensembl:ENSMUST00000199054) - p.Val226Ile (Ensembl:ENSMUST00000196471) - c.676G>A (Ensembl:ENSMUST00000196471) - p.Val226Ile (Ensembl:ENSMUST00000198783) - c.676G>A (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs3388803015 | 228 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.137572953G>C Codon: TGT/TCT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137572953G>C Locations: - p.Cys228Ser (Ensembl:ENSMUST00000198866) - c.683G>C (Ensembl:ENSMUST00000198866) - p.Cys228Ser (Ensembl:ENSMUST00000031729) - c.683G>C (Ensembl:ENSMUST00000031729) - p.Cys228Ser (Ensembl:ENSMUST00000199054) - c.683G>C (Ensembl:ENSMUST00000199054) - p.Cys228Ser (Ensembl:ENSMUST00000196471) - c.683G>C (Ensembl:ENSMUST00000196471) - p.Cys228Ser (Ensembl:ENSMUST00000198783) - c.683G>C (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs3395891648 | 240 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.137573083T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137573083T>G Locations: - p.Leu240Arg (Ensembl:ENSMUST00000198866) - c.719T>G (Ensembl:ENSMUST00000198866) - p.Leu240Arg (Ensembl:ENSMUST00000031729) - c.719T>G (Ensembl:ENSMUST00000031729) - p.Leu240Arg (Ensembl:ENSMUST00000199054) - c.719T>G (Ensembl:ENSMUST00000199054) - p.Leu240Arg (Ensembl:ENSMUST00000196471) - c.719T>G (Ensembl:ENSMUST00000196471) - p.Leu240Arg (Ensembl:ENSMUST00000198783) - c.719T>G (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs238239909 | 310 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000071.7:g.137575813A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137575813A>G Locations: - p.Ser310Gly (Ensembl:ENSMUST00000198866) - c.928A>G (Ensembl:ENSMUST00000198866) - p.Ser310Gly (Ensembl:ENSMUST00000031729) - c.928A>G (Ensembl:ENSMUST00000031729) - p.Ser310Gly (Ensembl:ENSMUST00000199054) - c.928A>G (Ensembl:ENSMUST00000199054) - p.Ser310Gly (Ensembl:ENSMUST00000196471) - c.928A>G (Ensembl:ENSMUST00000196471) - p.Ser310Gly (Ensembl:ENSMUST00000198783) - c.928A>G (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs3543890203 | 342 | E>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000071.7:g.137576001A>C Codon: GAA/GCA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137576001A>C Locations: - p.Glu342Ala (Ensembl:ENSMUST00000198866) - c.1025A>C (Ensembl:ENSMUST00000198866) - p.Glu342Ala (Ensembl:ENSMUST00000031729) - c.1025A>C (Ensembl:ENSMUST00000031729) - p.Glu342Ala (Ensembl:ENSMUST00000199054) - c.1025A>C (Ensembl:ENSMUST00000199054) - p.Glu342Ala (Ensembl:ENSMUST00000196471) - c.1025A>C (Ensembl:ENSMUST00000196471) - p.Glu342Ala (Ensembl:ENSMUST00000198783) - c.1025A>C (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs3388791558 | 361 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000071.7:g.137576057C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137576057C>A Locations: - p.Gln361Lys (Ensembl:ENSMUST00000198866) - c.1081C>A (Ensembl:ENSMUST00000198866) - p.Gln361Lys (Ensembl:ENSMUST00000031729) - c.1081C>A (Ensembl:ENSMUST00000031729) - p.Gln361Lys (Ensembl:ENSMUST00000199054) - c.1081C>A (Ensembl:ENSMUST00000199054) - p.Gln361Lys (Ensembl:ENSMUST00000196471) - c.1081C>A (Ensembl:ENSMUST00000196471) - p.Gln361Lys (Ensembl:ENSMUST00000198783) - c.1081C>A (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs3396237436 | 363 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000071.7:g.137576063C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137576063C>A Locations: - p.Leu363Ile (Ensembl:ENSMUST00000198866) - c.1087C>A (Ensembl:ENSMUST00000198866) - p.Leu363Ile (Ensembl:ENSMUST00000031729) - c.1087C>A (Ensembl:ENSMUST00000031729) - p.Leu363Ile (Ensembl:ENSMUST00000199054) - c.1087C>A (Ensembl:ENSMUST00000199054) - p.Leu363Ile (Ensembl:ENSMUST00000196471) - c.1087C>A (Ensembl:ENSMUST00000196471) - p.Leu363Ile (Ensembl:ENSMUST00000198783) - c.1087C>A (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs3388805227 | 438 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.137578485T>A Codon: TCT/ACT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137578485T>A Locations: - p.Ser438Thr (Ensembl:ENSMUST00000198866) - c.1312T>A (Ensembl:ENSMUST00000198866) - p.Ser438Thr (Ensembl:ENSMUST00000031729) - c.1312T>A (Ensembl:ENSMUST00000031729) - p.Ser438Thr (Ensembl:ENSMUST00000199054) - c.1312T>A (Ensembl:ENSMUST00000199054) - p.Ser438Thr (Ensembl:ENSMUST00000196471) - c.1312T>A (Ensembl:ENSMUST00000196471) - p.Ser438Thr (Ensembl:ENSMUST00000198783) - c.1312T>A (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs3388808979 | 472 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000071.7:g.137580890A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137580890A>T Locations: - p.Asp472Val (Ensembl:ENSMUST00000198866) - c.1415A>T (Ensembl:ENSMUST00000198866) - p.Asp472Val (Ensembl:ENSMUST00000031729) - c.1415A>T (Ensembl:ENSMUST00000031729) - p.Asp472Val (Ensembl:ENSMUST00000199054) - c.1415A>T (Ensembl:ENSMUST00000199054) - p.Asp472Val (Ensembl:ENSMUST00000196471) - c.1415A>T (Ensembl:ENSMUST00000196471) - p.Asp472Val (Ensembl:ENSMUST00000198783) - c.1415A>T (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs3388771565 | 514 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: NC_000071.7:g.137581199C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137581199C>T Locations: - p.Ala514Val (Ensembl:ENSMUST00000198866) - c.1541C>T (Ensembl:ENSMUST00000198866) - p.Ala514Val (Ensembl:ENSMUST00000031729) - c.1541C>T (Ensembl:ENSMUST00000031729) - p.Ala514Val (Ensembl:ENSMUST00000199054) - c.1541C>T (Ensembl:ENSMUST00000199054) - p.Ala514Val (Ensembl:ENSMUST00000196471) - c.1541C>T (Ensembl:ENSMUST00000196471) - p.Ala514Val (Ensembl:ENSMUST00000198783) - c.1541C>T (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs29771602 | 521 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000071.7:g.137581219G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137581219G>A Locations: - p.Val521Ile (Ensembl:ENSMUST00000198866) - c.1561G>A (Ensembl:ENSMUST00000198866) - p.Val521Ile (Ensembl:ENSMUST00000031729) - c.1561G>A (Ensembl:ENSMUST00000031729) - p.Val521Ile (Ensembl:ENSMUST00000199054) - c.1561G>A (Ensembl:ENSMUST00000199054) - p.Val521Ile (Ensembl:ENSMUST00000196471) - c.1561G>A (Ensembl:ENSMUST00000196471) - p.Val521Ile (Ensembl:ENSMUST00000198783) - c.1561G>A (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs216886469 | 553 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000071.7:g.137581403A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137581403A>G Locations: - p.Asp553Gly (Ensembl:ENSMUST00000198866) - c.1658A>G (Ensembl:ENSMUST00000198866) - p.Asp553Gly (Ensembl:ENSMUST00000031729) - c.1658A>G (Ensembl:ENSMUST00000031729) - p.Asp553Gly (Ensembl:ENSMUST00000199054) - c.1658A>G (Ensembl:ENSMUST00000199054) - p.Asp553Gly (Ensembl:ENSMUST00000196471) - c.1658A>G (Ensembl:ENSMUST00000196471) - p.Asp553Gly (Ensembl:ENSMUST00000198783) - c.1658A>G (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs3388791576 | 628 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.137581796C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137581796C>G Locations: - p.Leu628Val (Ensembl:ENSMUST00000198866) - c.1882C>G (Ensembl:ENSMUST00000198866) - p.Leu628Val (Ensembl:ENSMUST00000031729) - c.1882C>G (Ensembl:ENSMUST00000031729) - p.Leu628Val (Ensembl:ENSMUST00000199054) - c.1882C>G (Ensembl:ENSMUST00000199054) - p.Leu628Val (Ensembl:ENSMUST00000196471) - c.1882C>G (Ensembl:ENSMUST00000196471) - p.Leu628Val (Ensembl:ENSMUST00000198783) - c.1882C>G (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs3388791635 | 635 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000071.7:g.137581817C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137581817C>T Locations: - p.Pro635Ser (Ensembl:ENSMUST00000198866) - c.1903C>T (Ensembl:ENSMUST00000198866) - p.Pro635Ser (Ensembl:ENSMUST00000031729) - c.1903C>T (Ensembl:ENSMUST00000031729) - p.Pro635Ser (Ensembl:ENSMUST00000199054) - c.1903C>T (Ensembl:ENSMUST00000199054) - p.Pro635Ser (Ensembl:ENSMUST00000196471) - c.1903C>T (Ensembl:ENSMUST00000196471) - p.Pro635Ser (Ensembl:ENSMUST00000198783) - c.1903C>T (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs3396255933 | 638 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000071.7:g.137581828C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137581828C>A Locations: - p.Phe638Leu (Ensembl:ENSMUST00000198866) - c.1914C>A (Ensembl:ENSMUST00000198866) - p.Phe638Leu (Ensembl:ENSMUST00000031729) - c.1914C>A (Ensembl:ENSMUST00000031729) - p.Phe638Leu (Ensembl:ENSMUST00000199054) - c.1914C>A (Ensembl:ENSMUST00000199054) - p.Phe638Leu (Ensembl:ENSMUST00000196471) - c.1914C>A (Ensembl:ENSMUST00000196471) - p.Phe638Leu (Ensembl:ENSMUST00000198783) - c.1914C>A (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs3388800340 | 654 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.61) Somatic: No Accession: NC_000071.7:g.137581874G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137581874G>A Locations: - p.Glu654Lys (Ensembl:ENSMUST00000198866) - c.1960G>A (Ensembl:ENSMUST00000198866) - p.Glu654Lys (Ensembl:ENSMUST00000031729) - c.1960G>A (Ensembl:ENSMUST00000031729) - p.Glu654Lys (Ensembl:ENSMUST00000199054) - c.1960G>A (Ensembl:ENSMUST00000199054) - p.Glu654Lys (Ensembl:ENSMUST00000196471) - c.1960G>A (Ensembl:ENSMUST00000196471) - p.Glu654Lys (Ensembl:ENSMUST00000198783) - c.1960G>A (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs3388795700 | 658 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000071.7:g.137581886G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137581886G>A Locations: - p.Asp658Asn (Ensembl:ENSMUST00000198866) - c.1972G>A (Ensembl:ENSMUST00000198866) - p.Asp658Asn (Ensembl:ENSMUST00000031729) - c.1972G>A (Ensembl:ENSMUST00000031729) - p.Asp658Asn (Ensembl:ENSMUST00000199054) - c.1972G>A (Ensembl:ENSMUST00000199054) - p.Asp658Asn (Ensembl:ENSMUST00000196471) - c.1972G>A (Ensembl:ENSMUST00000196471) - p.Asp658Asn (Ensembl:ENSMUST00000198783) - c.1972G>A (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs3388803003 | 682 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: NC_000071.7:g.137582252A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137582252A>G Locations: - p.Lys682Arg (Ensembl:ENSMUST00000198866) - c.2045A>G (Ensembl:ENSMUST00000198866) - p.Lys682Arg (Ensembl:ENSMUST00000031729) - c.2045A>G (Ensembl:ENSMUST00000031729) - p.Lys682Arg (Ensembl:ENSMUST00000199054) - c.2045A>G (Ensembl:ENSMUST00000199054) - p.Lys682Arg (Ensembl:ENSMUST00000196471) - c.2045A>G (Ensembl:ENSMUST00000196471) - p.Lys682Arg (Ensembl:ENSMUST00000198783) - c.2045A>G (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs3388805266 | 709 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000071.7:g.137585094G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137585094G>C Locations: - p.Glu709Gln (Ensembl:ENSMUST00000198866) - c.2125G>C (Ensembl:ENSMUST00000198866) - p.Glu709Gln (Ensembl:ENSMUST00000031729) - c.2125G>C (Ensembl:ENSMUST00000031729) - p.Glu709Gln (Ensembl:ENSMUST00000199054) - c.2125G>C (Ensembl:ENSMUST00000199054) - p.Glu709Gln (Ensembl:ENSMUST00000196471) - c.2125G>C (Ensembl:ENSMUST00000196471) - p.Glu709Gln (Ensembl:ENSMUST00000198783) - c.2125G>C (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs3388795779 | 740 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000071.7:g.137585187G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137585187G>A Locations: - p.Val740Ile (Ensembl:ENSMUST00000198866) - c.2218G>A (Ensembl:ENSMUST00000198866) - p.Val740Ile (Ensembl:ENSMUST00000031729) - c.2218G>A (Ensembl:ENSMUST00000031729) - p.Val740Ile (Ensembl:ENSMUST00000199054) - c.2218G>A (Ensembl:ENSMUST00000199054) - p.Val740Ile (Ensembl:ENSMUST00000196471) - c.2218G>A (Ensembl:ENSMUST00000196471) - p.Val740Ile (Ensembl:ENSMUST00000198783) - c.2218G>A (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs3388797741 | 741 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.137585191A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137585191A>G Locations: - p.Asp741Gly (Ensembl:ENSMUST00000198866) - c.2222A>G (Ensembl:ENSMUST00000198866) - p.Asp741Gly (Ensembl:ENSMUST00000031729) - c.2222A>G (Ensembl:ENSMUST00000031729) - p.Asp741Gly (Ensembl:ENSMUST00000199054) - c.2222A>G (Ensembl:ENSMUST00000199054) - p.Asp741Gly (Ensembl:ENSMUST00000196471) - c.2222A>G (Ensembl:ENSMUST00000196471) - p.Asp741Gly (Ensembl:ENSMUST00000198783) - c.2222A>G (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs32278565 | 748 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_000071.7:g.137585211G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137585211G>A Locations: - p.Ala748Thr (Ensembl:ENSMUST00000198866) - c.2242G>A (Ensembl:ENSMUST00000198866) - p.Ala748Thr (Ensembl:ENSMUST00000031729) - c.2242G>A (Ensembl:ENSMUST00000031729) - p.Ala748Thr (Ensembl:ENSMUST00000199054) - c.2242G>A (Ensembl:ENSMUST00000199054) - p.Ala748Thr (Ensembl:ENSMUST00000196471) - c.2242G>A (Ensembl:ENSMUST00000196471) - p.Ala748Thr (Ensembl:ENSMUST00000198783) - c.2242G>A (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: | |||||||
rs33313890 | 757 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.65) Somatic: No Accession: NC_000071.7:g.137585238C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.137585238C>G Locations: - p.Arg757Gly (Ensembl:ENSMUST00000198866) - c.2269C>G (Ensembl:ENSMUST00000198866) - p.Arg757Gly (Ensembl:ENSMUST00000031729) - c.2269C>G (Ensembl:ENSMUST00000031729) - p.Arg757Gly (Ensembl:ENSMUST00000199054) - c.2269C>G (Ensembl:ENSMUST00000199054) - p.Arg757Gly (Ensembl:ENSMUST00000196471) - c.2269C>G (Ensembl:ENSMUST00000196471) - p.Arg757Gly (Ensembl:ENSMUST00000198783) - c.2269C>G (Ensembl:ENSMUST00000198783) Source type: large scale study Cross-references: |