Q5ZJE4 · SPRNG_CHICK
- ProteinSREBP regulating gene protein
- GeneSPRING
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids205 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs735177050 | 70 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_052546.1:g.11441259A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_052546.1:g.11441259A>C Locations: - p.His70Pro (Ensembl:ENSGALT00010001000) - c.209A>C (Ensembl:ENSGALT00010001000) Source type: large scale study Cross-references: - EVA: rs735177050 | |||||||
rs735849552 | 95 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_052546.1:g.11442509A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: Genomic location: NC_052546.1:g.11442509A>G Locations: - p.Arg95Gly (Ensembl:ENSGALT00010001000) - c.283A>G (Ensembl:ENSGALT00010001000) Source type: large scale study Cross-references: - EVA: rs735849552 | |||||||
rs1059410399 | 108 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_052546.1:g.11442549T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: Genomic location: NC_052546.1:g.11442549T>A Locations: - p.Val108Glu (Ensembl:ENSGALT00010001000) - c.323T>A (Ensembl:ENSGALT00010001000) Source type: large scale study Cross-references: - EVA: rs1059410399 | |||||||
rs3388199515 | 108 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_052546.1:g.11442548G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: Genomic location: NC_052546.1:g.11442548G>A Locations: - p.Val108Met (Ensembl:ENSGALT00010001000) - c.322G>A (Ensembl:ENSGALT00010001000) Source type: large scale study Cross-references: - EVA: rs3388199515 | |||||||
rs3387023855 | 146 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_052546.1:g.11443165G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: Genomic location: NC_052546.1:g.11443165G>A Locations: - p.Arg146His (Ensembl:ENSGALT00010001000) - c.437G>A (Ensembl:ENSGALT00010001000) Source type: large scale study Cross-references: - EVA: rs3387023855 |