E9QP56 · E9QP56_MOUSE
- ProteinApolipoprotein C-III
- GeneApoc3
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids137 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389047152 | 3 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.46146546A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46146546A>G Locations: - p.Leu3Pro (Ensembl:ENSMUST00000121916) - c.8T>C (Ensembl:ENSMUST00000121916) Source type: large scale study Cross-references: | |||||||
rs3389047080 | 23 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.46146486T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46146486T>C Locations: - p.Gln23Arg (Ensembl:ENSMUST00000121916) - c.68A>G (Ensembl:ENSMUST00000121916) Source type: large scale study Cross-references: | |||||||
rs29881777 | 25 | S>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000075.7:g.46146481A>C Codon: TCT/GCT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46146481A>C Locations: - p.Ser25Ala (Ensembl:ENSMUST00000121916) - c.73T>G (Ensembl:ENSMUST00000121916) Source type: large scale study Cross-references: | |||||||
rs3389049107 | 27 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000075.7:g.46146474G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46146474G>A Locations: - p.Pro27Leu (Ensembl:ENSMUST00000121916) - c.80C>T (Ensembl:ENSMUST00000121916) Source type: large scale study Cross-references: | |||||||
rs3389047140 | 31 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000075.7:g.46146462C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 9q Genomic location: NC_000075.7:g.46146462C>T Locations: - p.Trp31Ter (Ensembl:ENSMUST00000121916) - c.92G>A (Ensembl:ENSMUST00000121916) Source type: large scale study Cross-references: | |||||||
rs3389009409 | 32 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.95) Somatic: No Accession: NC_000075.7:g.46146460C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46146460C>T Locations: - p.Asp32Asn (Ensembl:ENSMUST00000121916) - c.94G>A (Ensembl:ENSMUST00000121916) Source type: large scale study Cross-references: | |||||||
rs29889677 | 36 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000075.7:g.46146020C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46146020C>T Locations: - p.Val36Ile (Ensembl:ENSMUST00000121916) - c.106G>A (Ensembl:ENSMUST00000121916) Source type: large scale study Cross-references: | |||||||
rs263203962 | 43 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000075.7:g.46145998G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46145998G>A Locations: - p.Thr43Met (Ensembl:ENSMUST00000121916) - c.128C>T (Ensembl:ENSMUST00000121916) Source type: large scale study Cross-references: | |||||||
rs3389036486 | 48 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000075.7:g.46145983G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46145983G>A Locations: - p.Ala48Val (Ensembl:ENSMUST00000121916) - c.143C>T (Ensembl:ENSMUST00000121916) Source type: large scale study Cross-references: | |||||||
rs3389030160 | 105 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: NC_000075.7:g.46144620G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46144620G>C Locations: - p.Phe105Leu (Ensembl:ENSMUST00000121916) - c.315C>G (Ensembl:ENSMUST00000121916) Source type: large scale study Cross-references: | |||||||
rs32674712 | 107 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000075.7:g.46144615G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46144615G>A Locations: - p.Ser107Phe (Ensembl:ENSMUST00000121916) - c.320C>T (Ensembl:ENSMUST00000121916) Source type: large scale study Cross-references: | |||||||
rs3389030151 | 117 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_000075.7:g.46144586C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.46144586C>T Locations: - p.Asp117Asn (Ensembl:ENSMUST00000121916) - c.349G>A (Ensembl:ENSMUST00000121916) Source type: large scale study Cross-references: |