Q9Z1S0 · BUB1B_MOUSE
- ProteinMitotic checkpoint serine/threonine-protein kinase BUB1 beta
- GeneBub1b
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1052 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388568016 | 52 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.36) Somatic: No Accession: NC_000068.8:g.118430758C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118430758C>A Locations: - p.Gln52Lys (Ensembl:ENSMUST00000038341) - c.154C>A (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388574994 | 62 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000068.8:g.118435919T>A Codon: TTT/TTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118435919T>A Locations: - p.Phe62Leu (Ensembl:ENSMUST00000038341) - c.186T>A (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388578608 | 62 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000068.8:g.118435918T>A Codon: TTT/TAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118435918T>A Locations: - p.Phe62Tyr (Ensembl:ENSMUST00000038341) - c.185T>A (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388578560 | 88 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.118437065A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118437065A>G Locations: - p.Lys88Glu (Ensembl:ENSMUST00000038341) - c.262A>G (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388573459 | 109 | Y>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.118437129A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118437129A>G Locations: - p.Tyr109Cys (Ensembl:ENSMUST00000038341) - c.326A>G (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388578604 | 117 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000068.8:g.118437153G>C Codon: AGT/ACT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118437153G>C Locations: - p.Ser117Thr (Ensembl:ENSMUST00000038341) - c.350G>C (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388577513 | 118 | L>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000068.8:g.118437156T>A Codon: CTC/CAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118437156T>A Locations: - p.Leu118His (Ensembl:ENSMUST00000038341) - c.353T>A (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388580903 | 147 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.118440336C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.118440336C>T Locations: - p.Gln147Ter (Ensembl:ENSMUST00000038341) - c.439C>T (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388573757 | 161 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_000068.8:g.118440379A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118440379A>G Locations: - p.Asn161Ser (Ensembl:ENSMUST00000038341) - c.482A>G (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388578926 | 163 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000068.8:g.118440385A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118440385A>G Locations: - p.Lys163Arg (Ensembl:ENSMUST00000038341) - c.488A>G (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs260420886 | 168 | I>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000068.8:g.118440399A>T Codon: ATA/TTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118440399A>T Locations: - p.Ile168Leu (Ensembl:ENSMUST00000038341) - c.502A>T (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs260420886 | 168 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000068.8:g.118440399A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118440399A>G Locations: - p.Ile168Val (Ensembl:ENSMUST00000038341) - c.502A>G (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388573474 | 171 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000068.8:g.118440410A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118440410A>T Locations: - p.Glu171Asp (Ensembl:ENSMUST00000038341) - c.513A>T (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388573448 | 185 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000068.8:g.118440450T>A Codon: TCC/ACC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118440450T>A Locations: - p.Ser185Thr (Ensembl:ENSMUST00000038341) - c.553T>A (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs257555947 | 206 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_000068.8:g.118443110G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118443110G>C Locations: - p.Glu206Asp (Ensembl:ENSMUST00000038341) - c.618G>C (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3144766 | 240 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_000068.8:g.118443210G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118443210G>A Locations: - p.Gly240Ser (Ensembl:ENSMUST00000038341) - c.718G>A (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388577363 | 255 | V>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.51) Somatic: No Accession: NC_000068.8:g.118445444G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118445444G>T Locations: - p.Val255Phe (Ensembl:ENSMUST00000038341) - c.763G>T (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs27423868 | 275 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: NC_000068.8:g.118445504G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118445504G>A Locations: - p.Ala275Thr (Ensembl:ENSMUST00000038341) - c.823G>A (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3540661960 | 278 | T>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_000068.8:g.118445514C>A Codon: ACG/AAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118445514C>A Locations: - p.Thr278Lys (Ensembl:ENSMUST00000038341) - c.833C>A (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3149979 | 278 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.69) Somatic: No Accession: NC_000068.8:g.118445513A>C Codon: ACG/CCG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118445513A>C Locations: - p.Thr278Pro (Ensembl:ENSMUST00000038341) - c.832A>C (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3149980 | 312 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: NC_000068.8:g.118445616C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118445616C>T Locations: - p.Ala312Val (Ensembl:ENSMUST00000038341) - c.935C>T (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs219981693 | 324 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_000068.8:g.118445950C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118445950C>T Locations: - p.Thr324Met (Ensembl:ENSMUST00000038341) - c.971C>T (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs237393703 | 326 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.118445955A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118445955A>G Locations: - p.Ile326Val (Ensembl:ENSMUST00000038341) - c.976A>G (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388579498 | 410 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000068.8:g.118448378C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118448378C>T Locations: - p.Ala410Val (Ensembl:ENSMUST00000038341) - c.1229C>T (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs217895491 | 430 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000068.8:g.118452637A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118452637A>G Locations: - p.Lys430Arg (Ensembl:ENSMUST00000038341) - c.1289A>G (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs232834473 | 445 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.118452682G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118452682G>A Locations: - p.Arg445Lys (Ensembl:ENSMUST00000038341) - c.1334G>A (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs244866841 | 451 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.118452699G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118452699G>A Locations: - p.Ala451Thr (Ensembl:ENSMUST00000038341) - c.1351G>A (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388577333 | 452 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000068.8:g.118452702G>C Codon: GTT/CTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118452702G>C Locations: - p.Val452Leu (Ensembl:ENSMUST00000038341) - c.1354G>C (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388580921 | 461 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000068.8:g.118453553A>T Codon: CAA/CAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118453553A>T Locations: - p.Gln461His (Ensembl:ENSMUST00000038341) - c.1383A>T (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3392120757 | 481 | E>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.45) Somatic: No Accession: NC_000068.8:g.118453612A>C Codon: GAA/GCA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118453612A>C Locations: - p.Glu481Ala (Ensembl:ENSMUST00000038341) - c.1442A>C (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3392012923 | 482 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.82) Somatic: No Accession: NC_000068.8:g.118453614A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118453614A>T Locations: - p.Met482Leu (Ensembl:ENSMUST00000038341) - c.1444A>T (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs261835884 | 491 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.118453641A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118453641A>G Locations: - p.Ile491Val (Ensembl:ENSMUST00000038341) - c.1471A>G (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388583046 | 493 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000068.8:g.118453648C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118453648C>T Locations: - p.Pro493Leu (Ensembl:ENSMUST00000038341) - c.1478C>T (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388579686 | 524 | F>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.118456527T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118456527T>G Locations: - p.Phe524Val (Ensembl:ENSMUST00000038341) - c.1570T>G (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388578615 | 526 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.118456534A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118456534A>T Locations: - p.Glu526Val (Ensembl:ENSMUST00000038341) - c.1577A>T (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs259659399 | 538 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.118457341A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118457341A>G Locations: - p.Thr538Ala (Ensembl:ENSMUST00000038341) - c.1612A>G (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388577305 | 540 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.54) Somatic: No Accession: NC_000068.8:g.118457348G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118457348G>A Locations: - p.Gly540Asp (Ensembl:ENSMUST00000038341) - c.1619G>A (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388579707 | 544 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: NC_000068.8:g.118457359C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118457359C>T Locations: - p.Leu544Phe (Ensembl:ENSMUST00000038341) - c.1630C>T (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs224444372 | 545 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.53) Somatic: No Accession: NC_000068.8:g.118457363A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118457363A>G Locations: - p.Asn545Ser (Ensembl:ENSMUST00000038341) - c.1634A>G (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3392092024 | 567 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: NC_000068.8:g.118457428T>A Codon: TCT/ACT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118457428T>A Locations: - p.Ser567Thr (Ensembl:ENSMUST00000038341) - c.1699T>A (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3392096726 | 579 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000068.8:g.118460406C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118460406C>A Locations: - p.Pro579His (Ensembl:ENSMUST00000038341) - c.1736C>A (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3540649051 | 635 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000068.8:g.118460573G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118460573G>C Locations: - p.Glu635Gln (Ensembl:ENSMUST00000038341) - c.1903G>C (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388575400 | 639 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.42) Somatic: No Accession: NC_000068.8:g.118460585G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118460585G>A Locations: - p.Gly639Arg (Ensembl:ENSMUST00000038341) - c.1915G>A (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs253083331 | 644 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: NC_000068.8:g.118460601C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118460601C>G Locations: - p.Ala644Gly (Ensembl:ENSMUST00000038341) - c.1931C>G (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs27423851 | 664 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.78) Somatic: No Accession: NC_000068.8:g.118461441G>C, NC_000068.8:g.118461441G>T Codon: GAG/GAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118461441G>C, NC_000068.8:g.118461441G>T Locations: - p.Glu664Asp (Ensembl:ENSMUST00000038341) - c.1992G>C (Ensembl:ENSMUST00000038341) - c.1992G>T (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388578838 | 683 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000068.8:g.118461497G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118461497G>A Locations: - p.Ser683Asn (Ensembl:ENSMUST00000038341) - c.2048G>A (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388581656 | 688 | K>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.118461511A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118461511A>C Locations: - p.Lys688Gln (Ensembl:ENSMUST00000038341) - c.2062A>C (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs223396652 | 699 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000068.8:g.118461544A>T Codon: ACT/TCT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118461544A>T Locations: - p.Thr699Ser (Ensembl:ENSMUST00000038341) - c.2095A>T (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388578846 | 699 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000068.8:g.118461545C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118461545C>G Locations: - p.Thr699Ser (Ensembl:ENSMUST00000038341) - c.2096C>G (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs27423850 | 705 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.66) Somatic: No Accession: NC_000068.8:g.118462242G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118462242G>A Locations: - p.Asp705Asn (Ensembl:ENSMUST00000038341) - c.2113G>A (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388582495 | 707 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000068.8:g.118462249T>A Codon: ATT/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118462249T>A Locations: - p.Ile707Asn (Ensembl:ENSMUST00000038341) - c.2120T>A (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3392115409 | 713 | S>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.118462267C>A Codon: TCA/TAA Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.118462267C>A Locations: - p.Ser713Ter (Ensembl:ENSMUST00000038341) - c.2138C>A (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388568062 | 714 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000068.8:g.118462271G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118462271G>T Locations: - p.Gln714His (Ensembl:ENSMUST00000038341) - c.2142G>T (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388582508 | 721 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000068.8:g.118462292A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118462292A>T Locations: - p.Lys721Asn (Ensembl:ENSMUST00000038341) - c.2163A>T (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs221982013 | 726 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000068.8:g.118462307A>C Codon: TTA/TTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118462307A>C Locations: - p.Leu726Phe (Ensembl:ENSMUST00000038341) - c.2178A>C (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs252392177 | 726 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.118462305T>A Codon: TTA/ATA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118462305T>A Locations: - p.Leu726Ile (Ensembl:ENSMUST00000038341) - c.2176T>A (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs240575644 | 738 | P>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: NC_000068.8:g.118462341C>G Codon: CCG/GCG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118462341C>G Locations: - p.Pro738Ala (Ensembl:ENSMUST00000038341) - c.2212C>G (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs261302866 | 741 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.75) Somatic: No Accession: NC_000068.8:g.118462351T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118462351T>C Locations: - p.Val741Ala (Ensembl:ENSMUST00000038341) - c.2222T>C (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388571694 | 771 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.118462953G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.118462953G>A Locations: - p.Trp771Ter (Ensembl:ENSMUST00000038341) - c.2313G>A (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388580076 | 782 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.95) Somatic: No Accession: NC_000068.8:g.118462986G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118462986G>T Locations: - p.Met782Ile (Ensembl:ENSMUST00000038341) - c.2346G>T (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388582460 | 842 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.118467203T>A Codon: TTT/TAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118467203T>A Locations: - p.Phe842Tyr (Ensembl:ENSMUST00000038341) - c.2525T>A (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388575430 | 844 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000068.8:g.118467209C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118467209C>T Locations: - p.Thr844Ile (Ensembl:ENSMUST00000038341) - c.2531C>T (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388568049 | 888 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_000068.8:g.118468899A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118468899A>G Locations: - p.Asp888Gly (Ensembl:ENSMUST00000038341) - c.2663A>G (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs253084732 | 940 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.118469056T>G Codon: CAT/CAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118469056T>G Locations: - p.His940Gln (Ensembl:ENSMUST00000038341) - c.2820T>G (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388581730 | 948 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000068.8:g.118470135G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118470135G>A Locations: - p.Asp948Asn (Ensembl:ENSMUST00000038341) - c.2842G>A (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs13474781 | 959 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.118470168C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118470168C>T Locations: - p.Leu959Phe (Ensembl:ENSMUST00000038341) - c.2875C>T (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388573699 | 1006 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000068.8:g.118471658C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118471658C>G Locations: - p.Ala1006Gly (Ensembl:ENSMUST00000038341) - c.3017C>G (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs237435355 | 1011 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000068.8:g.118471673G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118471673G>T Locations: - p.Gly1011Val (Ensembl:ENSMUST00000038341) - c.3032G>T (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs255648683 | 1018 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.118471695T>G Codon: CAT/CAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118471695T>G Locations: - p.His1018Gln (Ensembl:ENSMUST00000038341) - c.3054T>G (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs3388578845 | 1040 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000068.8:g.118471761G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118471761G>T Locations: - p.Gln1040His (Ensembl:ENSMUST00000038341) - c.3120G>T (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: | |||||||
rs231678555 | 1045 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000068.8:g.118471774C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.118471774C>T Locations: - p.Pro1045Ser (Ensembl:ENSMUST00000038341) - c.3133C>T (Ensembl:ENSMUST00000038341) Source type: large scale study Cross-references: |