Q3ZAS0 · SL9A2_MOUSE
- ProteinSodium/hydrogen exchanger 2
- GeneSlc9a2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids814 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs47602362 | 10 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000067.7:g.40721061G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.40721061G>A Locations: - p.Val10Met (Ensembl:ENSMUST00000027231) - c.28G>A (Ensembl:ENSMUST00000027231) Source type: large scale study Cross-references: | |||||||
rs3388467089 | 111 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.40757795G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.40757795G>T Locations: - p.Glu111Asp (Ensembl:ENSMUST00000027231) - c.333G>T (Ensembl:ENSMUST00000027231) Source type: large scale study Cross-references: | |||||||
rs3388466406 | 115 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.40757805C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.40757805C>T Locations: - p.Leu115Phe (Ensembl:ENSMUST00000027231) - c.343C>T (Ensembl:ENSMUST00000027231) Source type: large scale study Cross-references: | |||||||
rs3388466190 | 122 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000067.7:g.40757826C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.40757826C>G Locations: - p.Leu122Val (Ensembl:ENSMUST00000027231) - c.364C>G (Ensembl:ENSMUST00000027231) Source type: large scale study Cross-references: | |||||||
rs3388466256 | 131 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000067.7:g.40757853G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.40757853G>A Locations: - p.Glu131Lys (Ensembl:ENSMUST00000027231) - c.391G>A (Ensembl:ENSMUST00000027231) Source type: large scale study Cross-references: | |||||||
rs3388466576 | 141 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.40757883G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.40757883G>A Locations: - p.Val141Met (Ensembl:ENSMUST00000027231) - c.421G>A (Ensembl:ENSMUST00000027231) Source type: large scale study Cross-references: | |||||||
rs3388465542 | 181 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.40758005T>A Codon: AAT/AAA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.40758005T>A Locations: - p.Asn181Lys (Ensembl:ENSMUST00000027231) - c.543T>A (Ensembl:ENSMUST00000027231) Source type: large scale study Cross-references: | |||||||
rs3388466653 | 216 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.40758108T>A Codon: TCA/ACA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.40758108T>A Locations: - p.Ser216Thr (Ensembl:ENSMUST00000027231) - c.646T>A (Ensembl:ENSMUST00000027231) Source type: large scale study Cross-references: | |||||||
rs3388466540 | 246 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000067.7:g.40758198C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.40758198C>T Locations: - p.Leu246Phe (Ensembl:ENSMUST00000027231) - c.736C>T (Ensembl:ENSMUST00000027231) Source type: large scale study Cross-references: | |||||||
rs3539124465 | 287 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.40765471T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.40765471T>G Locations: - p.Val287Gly (Ensembl:ENSMUST00000027231) - c.860T>G (Ensembl:ENSMUST00000027231) Source type: large scale study Cross-references: | |||||||
rs3388466859 | 305 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000067.7:g.40765524C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.40765524C>T Locations: - p.His305Tyr (Ensembl:ENSMUST00000027231) - c.913C>T (Ensembl:ENSMUST00000027231) Source type: large scale study Cross-references: | |||||||
rs3507629599 | 447 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.40783076G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.40783076G>A Locations: - p.Val447Met (Ensembl:ENSMUST00000027231) - c.1339G>A (Ensembl:ENSMUST00000027231) Source type: large scale study Cross-references: | |||||||
rs3388465821 | 468 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000067.7:g.40783139G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.40783139G>A Locations: - p.Val468Ile (Ensembl:ENSMUST00000027231) - c.1402G>A (Ensembl:ENSMUST00000027231) Source type: large scale study Cross-references: | |||||||
rs3388466225 | 629 | T>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000067.7:g.40804762C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.40804762C>G Locations: - p.Thr629Arg (Ensembl:ENSMUST00000027231) - c.1886C>G (Ensembl:ENSMUST00000027231) Source type: large scale study Cross-references: | |||||||
rs3388466984 | 641 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.40804797A>T Codon: AGG/TGG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.40804797A>T Locations: - p.Arg641Trp (Ensembl:ENSMUST00000027231) - c.1921A>T (Ensembl:ENSMUST00000027231) Source type: large scale study Cross-references: | |||||||
rs3388466279 | 649 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.65) Somatic: No Accession: NC_000067.7:g.40804821C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.40804821C>A Locations: - p.Leu649Ile (Ensembl:ENSMUST00000027231) - c.1945C>A (Ensembl:ENSMUST00000027231) Source type: large scale study Cross-references: | |||||||
rs3388466768 | 683 | K>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000067.7:g.40805469A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.40805469A>C Locations: - p.Lys683Gln (Ensembl:ENSMUST00000027231) - c.2047A>C (Ensembl:ENSMUST00000027231) Source type: large scale study Cross-references: | |||||||
rs3389889460 | 737 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000067.7:g.40806925T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.40806925T>G Locations: - p.Asp737Glu (Ensembl:ENSMUST00000027231) - c.2211T>G (Ensembl:ENSMUST00000027231) Source type: large scale study Cross-references: | |||||||
rs256017537 | 744 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.33) Somatic: No Accession: NC_000067.7:g.40806944C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.40806944C>A Locations: - p.Pro744Thr (Ensembl:ENSMUST00000027231) - c.2230C>A (Ensembl:ENSMUST00000027231) Source type: large scale study Cross-references: | |||||||
rs48358557 | 808 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.40807137G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.40807137G>A Locations: - p.Arg808His (Ensembl:ENSMUST00000027231) - c.2423G>A (Ensembl:ENSMUST00000027231) Source type: large scale study Cross-references: |