O13816 · SCC3_SCHPO
- ProteinCohesin subunit psc3
- Genepsc3
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids962 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
I_2036490_A_T | 30 | M>L | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.2036490A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: Genomic location: I:g.2036490A>T Locations: - p.Met30Leu (Ensembl:SPAC17H9.20.1) - c.88A>T (Ensembl:SPAC17H9.20.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_2036490_A_T | |||||||
I_2037080_C_T | 183 | L>F | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.2037080C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: Genomic location: I:g.2037080C>T Locations: - p.Leu183Phe (Ensembl:SPAC17H9.20.1) - c.547C>T (Ensembl:SPAC17H9.20.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_2037080_C_T | |||||||
I_2037320_G_A | 263 | V>I | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.2037320G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: Genomic location: I:g.2037320G>A Locations: - p.Val263Ile (Ensembl:SPAC17H9.20.1) - c.787G>A (Ensembl:SPAC17H9.20.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_2037320_G_A | |||||||
I_2037330_A_G | 266 | N>S | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.2037330A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: Genomic location: I:g.2037330A>G Locations: - p.Asn266Ser (Ensembl:SPAC17H9.20.1) - c.797A>G (Ensembl:SPAC17H9.20.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_2037330_A_G | |||||||
I_2037968_A_G | 462 | Q>R | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.2037968A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: Genomic location: I:g.2037968A>G Locations: - p.Gln462Arg (Ensembl:SPAC17H9.20.1) - c.1385A>G (Ensembl:SPAC17H9.20.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_2037968_A_G | |||||||
I_2038019_G_C | 479 | C>S | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.2038019G>C Codon: TGT/TCT Consequence type: missense Cytogenetic band: Genomic location: I:g.2038019G>C Locations: - p.Cys479Ser (Ensembl:SPAC17H9.20.1) - c.1436G>C (Ensembl:SPAC17H9.20.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_2038019_G_C | |||||||
I_2038157_T_C | 525 | I>T | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.2038157T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: Genomic location: I:g.2038157T>C Locations: - p.Ile525Thr (Ensembl:SPAC17H9.20.1) - c.1574T>C (Ensembl:SPAC17H9.20.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_2038157_T_C | |||||||
I_2038223_A_T | 547 | D>V | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.2038223A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: Genomic location: I:g.2038223A>T Locations: - p.Asp547Val (Ensembl:SPAC17H9.20.1) - c.1640A>T (Ensembl:SPAC17H9.20.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_2038223_A_T | |||||||
I_2038370_C_T | 596 | T>M | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.2038370C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: Genomic location: I:g.2038370C>T Locations: - p.Thr596Met (Ensembl:SPAC17H9.20.1) - c.1787C>T (Ensembl:SPAC17H9.20.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_2038370_C_T | |||||||
I_2038396_G_T | 605 | D>Y | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.2038396G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: Genomic location: I:g.2038396G>T Locations: - p.Asp605Tyr (Ensembl:SPAC17H9.20.1) - c.1813G>T (Ensembl:SPAC17H9.20.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_2038396_G_T | |||||||
I_2038570_T_A | 663 | F>I | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.2038570T>A Codon: TTT/ATT Consequence type: missense Cytogenetic band: Genomic location: I:g.2038570T>A Locations: - p.Phe663Ile (Ensembl:SPAC17H9.20.1) - c.1987T>A (Ensembl:SPAC17H9.20.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_2038570_T_A | |||||||
I_2038909_T_C | 776 | F>L | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.2038909T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: Genomic location: I:g.2038909T>C Locations: - p.Phe776Leu (Ensembl:SPAC17H9.20.1) - c.2326T>C (Ensembl:SPAC17H9.20.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_2038909_T_C | |||||||
I_2039184_C_A | 851 | D>E | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.2039184C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: Genomic location: I:g.2039184C>A Locations: - p.Asp851Glu (Ensembl:SPAC17H9.20.1) - c.2553C>A (Ensembl:SPAC17H9.20.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_2039184_C_A | |||||||
I_2039458_T_G | 943 | C>G | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.2039458T>G Codon: TGT/GGT Consequence type: missense Cytogenetic band: Genomic location: I:g.2039458T>G Locations: - p.Cys943Gly (Ensembl:SPAC17H9.20.1) - c.2827T>G (Ensembl:SPAC17H9.20.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_2039458_T_G | |||||||
I_2039482_C_T | 951 | P>S | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.2039482C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: Genomic location: I:g.2039482C>T Locations: - p.Pro951Ser (Ensembl:SPAC17H9.20.1) - c.2851C>T (Ensembl:SPAC17H9.20.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_2039482_C_T |