O08786 · CCKAR_MOUSE
- ProteinCholecystokinin receptor type A
- GeneCckar
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids436 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388750185 | 19-20 | EL>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000071.7:g.53864643_53864644insCCACACTACCTCAACCATCAC Codon: GAA/GAGTGATGGTTGAGGTAGTGTGGA Consequence type: stop gained Cytogenetic band: 5q Genomic location: NC_000071.7:g.53864643_53864644insCCACACTACCTCAACCATCAC Locations: - p.Glu19_Leu20insTer (Ensembl:ENSMUST00000031093) - c.56_57insGTGATGGTTGAGGTAGTGTGG (Ensembl:ENSMUST00000031093) Source type: large scale study Cross-references: | |||||||
rs3388764503 | 20 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000071.7:g.53864642G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53864642G>C Locations: - p.Leu20Val (Ensembl:ENSMUST00000031093) - c.58C>G (Ensembl:ENSMUST00000031093) Source type: large scale study Cross-references: | |||||||
rs3388762201 | 39 | W>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000071.7:g.53863845A>T Codon: TGG/AGG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53863845A>T Locations: - p.Trp39Arg (Ensembl:ENSMUST00000031093) - c.115T>A (Ensembl:ENSMUST00000031093) Source type: large scale study Cross-references: | |||||||
rs3395677352 | 43 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: NC_000071.7:g.53863833C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53863833C>G Locations: - p.Val43Leu (Ensembl:ENSMUST00000031093) - c.127G>C (Ensembl:ENSMUST00000031093) Source type: large scale study Cross-references: | |||||||
rs3388762208 | 72 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: NC_000071.7:g.53863746T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53863746T>A Locations: - p.Met72Leu (Ensembl:ENSMUST00000031093) - c.214A>T (Ensembl:ENSMUST00000031093) Source type: large scale study Cross-references: | |||||||
rs3388754692 | 116 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000071.7:g.53863613G>T Codon: ACT/AAT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53863613G>T Locations: - p.Thr116Asn (Ensembl:ENSMUST00000031093) - c.347C>A (Ensembl:ENSMUST00000031093) Source type: large scale study Cross-references: | |||||||
rs3388747655 | 142 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.53860403G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53860403G>A Locations: - p.Ala142Val (Ensembl:ENSMUST00000031093) - c.425C>T (Ensembl:ENSMUST00000031093) Source type: large scale study Cross-references: | |||||||
rs3388759460 | 165 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000071.7:g.53860334G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53860334G>A Locations: - p.Thr165Ile (Ensembl:ENSMUST00000031093) - c.494C>T (Ensembl:ENSMUST00000031093) Source type: large scale study Cross-references: | |||||||
rs3388755019 | 166 | W>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.53860331C>A Codon: TGG/TTG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53860331C>A Locations: - p.Trp166Leu (Ensembl:ENSMUST00000031093) - c.497G>T (Ensembl:ENSMUST00000031093) Source type: large scale study Cross-references: | |||||||
rs3388732454 | 172 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000071.7:g.53860314T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53860314T>A Locations: - p.Ile172Phe (Ensembl:ENSMUST00000031093) - c.514A>T (Ensembl:ENSMUST00000031093) Source type: large scale study Cross-references: | |||||||
rs3388761788 | 185 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000071.7:g.53860274A>G Codon: TTT/TCT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53860274A>G Locations: - p.Phe185Ser (Ensembl:ENSMUST00000031093) - c.554T>C (Ensembl:ENSMUST00000031093) Source type: large scale study Cross-references: | |||||||
rs3388761346 | 187 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000071.7:g.53860269T>A Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 5q Genomic location: NC_000071.7:g.53860269T>A Locations: - p.Lys187Ter (Ensembl:ENSMUST00000031093) - c.559A>T (Ensembl:ENSMUST00000031093) Source type: large scale study Cross-references: | |||||||
rs3388759813 | 228 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.53858637C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53858637C>T Locations: - p.Ala228Thr (Ensembl:ENSMUST00000031093) - c.682G>A (Ensembl:ENSMUST00000031093) Source type: large scale study Cross-references: | |||||||
rs3388750261 | 249 | S>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000071.7:g.53858573G>T Codon: TCT/TAT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53858573G>T Locations: - p.Ser249Tyr (Ensembl:ENSMUST00000031093) - c.746C>A (Ensembl:ENSMUST00000031093) Source type: large scale study Cross-references: | |||||||
rs217659485 | 258 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000071.7:g.53857637C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53857637C>T Locations: - p.Gly258Ser (Ensembl:ENSMUST00000031093) - c.772G>A (Ensembl:ENSMUST00000031093) Source type: large scale study Cross-references: | |||||||
rs250303490 | 264 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000071.7:g.53857619C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53857619C>T Locations: - p.Gly264Ser (Ensembl:ENSMUST00000031093) - c.790G>A (Ensembl:ENSMUST00000031093) Source type: large scale study Cross-references: | |||||||
rs236694052 | 265 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000071.7:g.53857615C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53857615C>A Locations: - p.Ser265Ile (Ensembl:ENSMUST00000031093) - c.794G>T (Ensembl:ENSMUST00000031093) Source type: large scale study Cross-references: | |||||||
rs3388732464 | 279 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000071.7:g.53857572C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53857572C>A Locations: - p.Gln279His (Ensembl:ENSMUST00000031093) - c.837G>T (Ensembl:ENSMUST00000031093) Source type: large scale study Cross-references: | |||||||
rs3388768279 | 360 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.53857330A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53857330A>G Locations: - p.Ile360Thr (Ensembl:ENSMUST00000031093) - c.1079T>C (Ensembl:ENSMUST00000031093) Source type: large scale study Cross-references: | |||||||
rs3388750240 | 378 | Y>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.53857277A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53857277A>G Locations: - p.Tyr378His (Ensembl:ENSMUST00000031093) - c.1132T>C (Ensembl:ENSMUST00000031093) Source type: large scale study Cross-references: | |||||||
rs3388761598 | 392 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.53857234G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53857234G>A Locations: - p.Thr392Ile (Ensembl:ENSMUST00000031093) - c.1175C>T (Ensembl:ENSMUST00000031093) Source type: large scale study Cross-references: | |||||||
rs3388732486 | 404 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.67) Somatic: No Accession: NC_000071.7:g.53857199C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53857199C>A Locations: - p.Val404Leu (Ensembl:ENSMUST00000031093) - c.1210G>T (Ensembl:ENSMUST00000031093) Source type: large scale study Cross-references: | |||||||
rs3388764569 | 407 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.42) Somatic: No Accession: NC_000071.7:g.53857188T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53857188T>A Locations: - p.Glu407Asp (Ensembl:ENSMUST00000031093) - c.1221A>T (Ensembl:ENSMUST00000031093) Source type: large scale study Cross-references: | |||||||
rs3388732449 | 433 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000071.7:g.53857111G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53857111G>A Locations: - p.Ala433Val (Ensembl:ENSMUST00000031093) - c.1298C>T (Ensembl:ENSMUST00000031093) Source type: large scale study Cross-references: | |||||||
rs13459172 | 436 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000071.7:g.53857102T>G Codon: CAC/CCC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.53857102T>G Locations: - p.His436Pro (Ensembl:ENSMUST00000031093) - c.1307A>C (Ensembl:ENSMUST00000031093) Source type: large scale study Cross-references: |