O42649 · SMC3_SCHPO
- ProteinStructural maintenance of chromosomes protein 3
- Genepsm3
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids1194 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
I_1224579_G_A | 72 | T>I | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.1224579G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: Genomic location: I:g.1224579G>A Locations: - p.Thr72Ile (Ensembl:SPAC10F6.09c.1) - c.215C>T (Ensembl:SPAC10F6.09c.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_1224579_G_A | |||||||
I_1224199_G_A | 199 | R>W | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.1224199G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: Genomic location: I:g.1224199G>A Locations: - p.Arg199Trp (Ensembl:SPAC10F6.09c.1) - c.595C>T (Ensembl:SPAC10F6.09c.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_1224199_G_A | |||||||
I_1224152_G_T | 214 | H>Q | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.1224152G>T Codon: CAC/CAA Consequence type: missense Cytogenetic band: Genomic location: I:g.1224152G>T Locations: - p.His214Gln (Ensembl:SPAC10F6.09c.1) - c.642C>A (Ensembl:SPAC10F6.09c.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_1224152_G_T | |||||||
I_1223737_C_T | 353 | A>T | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.1223737C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: Genomic location: I:g.1223737C>T Locations: - p.Ala353Thr (Ensembl:SPAC10F6.09c.1) - c.1057G>A (Ensembl:SPAC10F6.09c.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_1223737_C_T | |||||||
I_1223541_G_T | 418 | T>N | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.1223541G>T Codon: ACT/AAT Consequence type: missense Cytogenetic band: Genomic location: I:g.1223541G>T Locations: - p.Thr418Asn (Ensembl:SPAC10F6.09c.1) - c.1253C>A (Ensembl:SPAC10F6.09c.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_1223541_G_T | |||||||
I_1223527_T_A | 423 | M>L | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.1223527T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: Genomic location: I:g.1223527T>A Locations: - p.Met423Leu (Ensembl:SPAC10F6.09c.1) - c.1267A>T (Ensembl:SPAC10F6.09c.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_1223527_T_A | |||||||
I_1222771_T_C | 675 | T>A | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.1222771T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: Genomic location: I:g.1222771T>C Locations: - p.Thr675Ala (Ensembl:SPAC10F6.09c.1) - c.2023A>G (Ensembl:SPAC10F6.09c.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_1222771_T_C | |||||||
I_1222754_G_T | 680 | F>L | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.1222754G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: Genomic location: I:g.1222754G>T Locations: - p.Phe680Leu (Ensembl:SPAC10F6.09c.1) - c.2040C>A (Ensembl:SPAC10F6.09c.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_1222754_G_T | |||||||
I_1222624_G_A | 724 | P>S | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.1222624G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: Genomic location: I:g.1222624G>A Locations: - p.Pro724Ser (Ensembl:SPAC10F6.09c.1) - c.2170C>T (Ensembl:SPAC10F6.09c.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_1222624_G_A | |||||||
I_1222587_G_A | 736 | T>I | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.1222587G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: Genomic location: I:g.1222587G>A Locations: - p.Thr736Ile (Ensembl:SPAC10F6.09c.1) - c.2207C>T (Ensembl:SPAC10F6.09c.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_1222587_G_A | |||||||
I_1222492_T_C | 768 | K>E | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.1222492T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: Genomic location: I:g.1222492T>C Locations: - p.Lys768Glu (Ensembl:SPAC10F6.09c.1) - c.2302A>G (Ensembl:SPAC10F6.09c.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_1222492_T_C | |||||||
I_1222383_A_C | 804 | I>S | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.1222383A>C Codon: ATT/AGT Consequence type: missense Cytogenetic band: Genomic location: I:g.1222383A>C Locations: - p.Ile804Ser (Ensembl:SPAC10F6.09c.1) - c.2411T>G (Ensembl:SPAC10F6.09c.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_1222383_A_C | |||||||
I_1221979_C_T | 939 | E>K | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.1221979C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: Genomic location: I:g.1221979C>T Locations: - p.Glu939Lys (Ensembl:SPAC10F6.09c.1) - c.2815G>A (Ensembl:SPAC10F6.09c.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_1221979_C_T | |||||||
I_1221870_T_A | 975 | Y>F | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.1221870T>A Codon: TAT/TTT Consequence type: missense Cytogenetic band: Genomic location: I:g.1221870T>A Locations: - p.Tyr975Phe (Ensembl:SPAC10F6.09c.1) - c.2924A>T (Ensembl:SPAC10F6.09c.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_1221870_T_A | |||||||
I_1221630_A_G | 1055 | I>T | Jeffares_SNPs | ||||
Consequence: missense Somatic: No Accession: I:g.1221630A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: Genomic location: I:g.1221630A>G Locations: - p.Ile1055Thr (Ensembl:SPAC10F6.09c.1) - c.3164T>C (Ensembl:SPAC10F6.09c.1) Source type: large scale study Cross-references: - Jeffares_SNPs: I_1221630_A_G |