P70274 · SEPP1_MOUSE
- ProteinSelenoprotein P
- GeneSelenop
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids380 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs13465155 | 85 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.3305098T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.3305098T>C Locations: - p.Ser85Pro (Ensembl:ENSMUST00000082424) - c.253T>C (Ensembl:ENSMUST00000082424) - p.Ser85Pro (Ensembl:ENSMUST00000159216) - c.253T>C (Ensembl:ENSMUST00000159216) Source type: large scale study Cross-references: | |||||||
rs3389356223 | 98 | L>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000081.7:g.3305138T>A Codon: TTA/TAA Consequence type: stop gained Cytogenetic band: 15q Genomic location: NC_000081.7:g.3305138T>A Locations: - p.Leu98Ter (Ensembl:ENSMUST00000082424) - c.293T>A (Ensembl:ENSMUST00000082424) - p.Leu98Ter (Ensembl:ENSMUST00000159216) - c.293T>A (Ensembl:ENSMUST00000159216) Source type: large scale study Cross-references: | |||||||
rs3389345408 | 117 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000081.7:g.3305194G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.3305194G>A Locations: - p.Glu117Lys (Ensembl:ENSMUST00000082424) - c.349G>A (Ensembl:ENSMUST00000082424) - p.Glu117Lys (Ensembl:ENSMUST00000159216) - c.349G>A (Ensembl:ENSMUST00000159216) Source type: large scale study Cross-references: | |||||||
rs3389345408 | 117 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000081.7:g.3305194G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.3305194G>C Locations: - p.Glu117Gln (Ensembl:ENSMUST00000082424) - c.349G>C (Ensembl:ENSMUST00000082424) - p.Glu117Gln (Ensembl:ENSMUST00000159216) - c.349G>C (Ensembl:ENSMUST00000159216) Source type: large scale study Cross-references: | |||||||
rs3389320101 | 139 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000081.7:g.3306639A>T Codon: AGA/AGT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.3306639A>T Locations: - p.Arg139Ser (Ensembl:ENSMUST00000082424) - c.417A>T (Ensembl:ENSMUST00000082424) - p.Arg139Ser (Ensembl:ENSMUST00000159216) - c.417A>T (Ensembl:ENSMUST00000159216) Source type: large scale study Cross-references: | |||||||
rs3389302424 | 147 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: NC_000081.7:g.3306661C>A Codon: CTT/ATT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.3306661C>A Locations: - p.Leu147Ile (Ensembl:ENSMUST00000082424) - c.439C>A (Ensembl:ENSMUST00000082424) - p.Leu147Ile (Ensembl:ENSMUST00000159216) - c.439C>A (Ensembl:ENSMUST00000159216) Source type: large scale study Cross-references: | |||||||
rs3389349634 | 162 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000081.7:g.3306707C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.3306707C>G Locations: - p.Ala162Gly (Ensembl:ENSMUST00000082424) - c.485C>G (Ensembl:ENSMUST00000082424) - p.Ala162Gly (Ensembl:ENSMUST00000159216) - c.485C>G (Ensembl:ENSMUST00000159216) Source type: large scale study Cross-references: | |||||||
rs13459176 | 188 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000081.7:g.3308612C>A Codon: ACT/AAT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.3308612C>A Locations: - p.Thr188Asn (Ensembl:ENSMUST00000082424) - c.563C>A (Ensembl:ENSMUST00000082424) - p.Thr188Asn (Ensembl:ENSMUST00000159216) - c.563C>A (Ensembl:ENSMUST00000159216) Source type: large scale study Cross-references: | |||||||
rs3389302387 | 195 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000081.7:g.3308634T>A Codon: AAT/AAA Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.3308634T>A Locations: - p.Asn195Lys (Ensembl:ENSMUST00000082424) - c.585T>A (Ensembl:ENSMUST00000082424) - p.Asn195Lys (Ensembl:ENSMUST00000159216) - c.585T>A (Ensembl:ENSMUST00000159216) Source type: large scale study Cross-references: | |||||||
rs3404939699 | 214 | G>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000081.7:g.3308689G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.3308689G>T Locations: - p.Gly214Trp (Ensembl:ENSMUST00000082424) - c.640G>T (Ensembl:ENSMUST00000082424) - p.Gly214Trp (Ensembl:ENSMUST00000159216) - c.640G>T (Ensembl:ENSMUST00000159216) Source type: large scale study Cross-references: | |||||||
rs3404939739 | 216 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000081.7:g.3308695G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 15q Genomic location: NC_000081.7:g.3308695G>T Locations: - p.Glu216Ter (Ensembl:ENSMUST00000082424) - c.646G>T (Ensembl:ENSMUST00000082424) - p.Glu216Ter (Ensembl:ENSMUST00000159216) - c.646G>T (Ensembl:ENSMUST00000159216) Source type: large scale study Cross-references: | |||||||
rs3404939688 | 261 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.57) Somatic: No Accession: NC_000081.7:g.3308830A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.3308830A>T Locations: - p.Thr261Ser (Ensembl:ENSMUST00000082424) - c.781A>T (Ensembl:ENSMUST00000082424) - p.Thr261Ser (Ensembl:ENSMUST00000159216) - c.781A>T (Ensembl:ENSMUST00000159216) Source type: large scale study Cross-references: | |||||||
rs225543740 | 293 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000081.7:g.3308926T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.3308926T>C Locations: - p.Ser293Pro (Ensembl:ENSMUST00000082424) - c.877T>C (Ensembl:ENSMUST00000082424) - p.Ser293Pro (Ensembl:ENSMUST00000159216) - c.877T>C (Ensembl:ENSMUST00000159216) Source type: large scale study Cross-references: | |||||||
rs219819062 | 317 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000081.7:g.3308998G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.3308998G>A Locations: - p.Ala317Thr (Ensembl:ENSMUST00000082424) - c.949G>A (Ensembl:ENSMUST00000082424) - p.Ala317Thr (Ensembl:ENSMUST00000159216) - c.949G>A (Ensembl:ENSMUST00000159216) Source type: large scale study Cross-references: | |||||||
rs232063187 | 359 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.3309125C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.3309125C>A Locations: - p.Pro359His (Ensembl:ENSMUST00000082424) - c.1076C>A (Ensembl:ENSMUST00000082424) - p.Pro359His (Ensembl:ENSMUST00000159216) - c.1076C>A (Ensembl:ENSMUST00000159216) Source type: large scale study Cross-references: | |||||||
rs232063187 | 359 | P>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.3309125C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.3309125C>G Locations: - p.Pro359Arg (Ensembl:ENSMUST00000082424) - c.1076C>G (Ensembl:ENSMUST00000082424) - p.Pro359Arg (Ensembl:ENSMUST00000159216) - c.1076C>G (Ensembl:ENSMUST00000159216) Source type: large scale study Cross-references: | |||||||
rs3389347995 | 368 | U>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000081.7:g.3309152G>A Codon: TGA/TAA Consequence type: stop gained Cytogenetic band: 15q Genomic location: NC_000081.7:g.3309152G>A Locations: - p.Sec368Ter (Ensembl:ENSMUST00000082424) - c.1103G>A (Ensembl:ENSMUST00000082424) - p.Sec368Ter (Ensembl:ENSMUST00000159216) - c.1103G>A (Ensembl:ENSMUST00000159216) Source type: large scale study Cross-references: |