Q9QX96 · SALL2_MOUSE
- ProteinSal-like protein 2
- GeneSall2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1004 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs47884766 | 31 | D>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000080.7:g.52553103C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52553103C>G Locations: - p.Asp31His (Ensembl:ENSMUST00000058326) - c.91G>C (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389326807 | 48 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.49) Somatic: No Accession: NC_000080.7:g.52553050T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52553050T>A Locations: - p.Glu48Asp (Ensembl:ENSMUST00000058326) - c.144A>T (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs253711809 | 58 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.53) Somatic: No Accession: NC_000080.7:g.52553021G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52553021G>A Locations: - p.Thr58Ile (Ensembl:ENSMUST00000058326) - c.173C>T (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs253711809 | 58 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000080.7:g.52553021G>T Codon: ACT/AAT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52553021G>T Locations: - p.Thr58Asn (Ensembl:ENSMUST00000058326) - c.173C>A (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389291830 | 81 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: NC_000080.7:g.52552953G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52552953G>A Locations: - p.Pro81Ser (Ensembl:ENSMUST00000058326) - c.241C>T (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389342458 | 85 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000080.7:g.52552941C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52552941C>A Locations: - p.Gly85Cys (Ensembl:ENSMUST00000058326) - c.253G>T (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389298183 | 87 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000080.7:g.52552934C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52552934C>A Locations: - p.Ser87Ile (Ensembl:ENSMUST00000058326) - c.260G>T (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389342511 | 92 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000080.7:g.52552918C>A Codon: ATG/ATT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52552918C>A Locations: - p.Met92Ile (Ensembl:ENSMUST00000058326) - c.276G>T (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389326483 | 104 | S>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000080.7:g.52552883_52552884insCTCCACACTACCTCAACCATCACTC Codon: TCC/TGAGTGATGGTTGAGGTAGTGTGGAGCC Consequence type: stop gained Cytogenetic band: 14q Genomic location: NC_000080.7:g.52552883_52552884insCTCCACACTACCTCAACCATCACTC Locations: - p.Ser104Ter (Ensembl:ENSMUST00000058326) - c.310_311insGAGTGATGGTTGAGGTAGTGTGGAG (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs30737051 | 107 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000080.7:g.52552875C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52552875C>G Locations: - p.Ala107Pro (Ensembl:ENSMUST00000058326) - c.319G>C (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389332491 | 116 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000080.7:g.52552848G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52552848G>A Locations: - p.Arg116Trp (Ensembl:ENSMUST00000058326) - c.346C>T (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389291844 | 123 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000080.7:g.52552827C>G Codon: GGG/CGG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52552827C>G Locations: - p.Gly123Arg (Ensembl:ENSMUST00000058326) - c.367G>C (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389325403 | 139 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000080.7:g.52552778C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52552778C>A Locations: - p.Gly139Val (Ensembl:ENSMUST00000058326) - c.416G>T (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389325438 | 149 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.55) Somatic: No Accession: NC_000080.7:g.52552748G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52552748G>A Locations: - p.Ala149Val (Ensembl:ENSMUST00000058326) - c.446C>T (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389298205 | 158 | P>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.52552721G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52552721G>C Locations: - p.Pro158Arg (Ensembl:ENSMUST00000058326) - c.473C>G (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389308558 | 186 | L>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000080.7:g.52552637_52552638insCACTACCTCAACCATCACTC Codon: TTG/TGAGTGATGGTTGAGGTAGTGTG Consequence type: stop gained Cytogenetic band: 14q Genomic location: NC_000080.7:g.52552637_52552638insCACTACCTCAACCATCACTC Locations: - p.Leu186Ter (Ensembl:ENSMUST00000058326) - c.556_557insGAGTGATGGTTGAGGTAGTG (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389298252 | 200 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.52552595G>T Codon: ACT/AAT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52552595G>T Locations: - p.Thr200Asn (Ensembl:ENSMUST00000058326) - c.599C>A (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3404859827 | 222 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.52552530T>A Codon: AGT/TGT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52552530T>A Locations: - p.Ser222Cys (Ensembl:ENSMUST00000058326) - c.664A>T (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3405087498 | 224 | S>R | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000080.7:g.52552525_52552526insCTACCTG Codon: -/AGGTAGC Consequence type: stop gained Cytogenetic band: 14q Genomic location: NC_000080.7:g.52552525_52552526insCTACCTG Locations: - p.Ser224ArgfsTer2 (Ensembl:ENSMUST00000058326) - c.669_670insAGGTAGC (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389328434 | 228 | G>V | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000080.7:g.52552511_52552512insACACTACCTCAACCATCACTCA Codon: GGG/GTGAGTGATGGTTGAGGTAGTGTGG Consequence type: stop gained Cytogenetic band: 14q Genomic location: NC_000080.7:g.52552511_52552512insACACTACCTCAACCATCACTCA Locations: - p.Gly228ValfsTer5 (Ensembl:ENSMUST00000058326) - c.682_683insTGAGTGATGGTTGAGGTAGTGT (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389328347 | 229 | T>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000080.7:g.52552508G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52552508G>C Locations: - p.Thr229Arg (Ensembl:ENSMUST00000058326) - c.686C>G (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389342498 | 243 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000080.7:g.52552466C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52552466C>T Locations: - p.Ser243Asn (Ensembl:ENSMUST00000058326) - c.728G>A (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389326466 | 252 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000080.7:g.52552438C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52552438C>A Locations: - p.Lys252Asn (Ensembl:ENSMUST00000058326) - c.756G>T (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389250243 | 287 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_000080.7:g.52552335A>T Codon: TCT/ACT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52552335A>T Locations: - p.Ser287Thr (Ensembl:ENSMUST00000058326) - c.859T>A (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389280572 | 291 | V>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000080.7:g.52552323C>A Codon: GTT/TTT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52552323C>A Locations: - p.Val291Phe (Ensembl:ENSMUST00000058326) - c.871G>T (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389321536 | 347 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.52552155G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52552155G>T Locations: - p.Leu347Met (Ensembl:ENSMUST00000058326) - c.1039C>A (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389298228 | 360 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000080.7:g.52552115T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52552115T>C Locations: - p.Glu360Gly (Ensembl:ENSMUST00000058326) - c.1079A>G (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389298231 | 380 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000080.7:g.52552056C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52552056C>T Locations: - p.Val380Ile (Ensembl:ENSMUST00000058326) - c.1138G>A (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389325421 | 423 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.52551926C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52551926C>T Locations: - p.Arg423His (Ensembl:ENSMUST00000058326) - c.1268G>A (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389308535 | 431 | M>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.52551902A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52551902A>G Locations: - p.Met431Thr (Ensembl:ENSMUST00000058326) - c.1292T>C (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389328433 | 432 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.52551899T>A Codon: AAT/ATT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52551899T>A Locations: - p.Asn432Ile (Ensembl:ENSMUST00000058326) - c.1295A>T (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389291870 | 461 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_000080.7:g.52551811T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52551811T>A Locations: - p.Glu461Asp (Ensembl:ENSMUST00000058326) - c.1383A>T (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3412782592 | 474 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000080.7:g.52551774T>A Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 14q Genomic location: NC_000080.7:g.52551774T>A Locations: - p.Lys474Ter (Ensembl:ENSMUST00000058326) - c.1420A>T (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389326498 | 496 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.52551707G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52551707G>A Locations: - p.Thr496Ile (Ensembl:ENSMUST00000058326) - c.1487C>T (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389325386 | 500 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000080.7:g.52551696C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52551696C>G Locations: - p.Val500Leu (Ensembl:ENSMUST00000058326) - c.1498G>C (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389342480 | 507 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000080.7:g.52551675A>T Codon: TTC/ATC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52551675A>T Locations: - p.Phe507Ile (Ensembl:ENSMUST00000058326) - c.1519T>A (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389332449 | 516 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000080.7:g.52551648C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52551648C>G Locations: - p.Val516Leu (Ensembl:ENSMUST00000058326) - c.1546G>C (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389308550 | 521 | K>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.52551632T>A Codon: AAA/ATA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52551632T>A Locations: - p.Lys521Ile (Ensembl:ENSMUST00000058326) - c.1562A>T (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389250298 | 531 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000080.7:g.52551601C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52551601C>A Locations: - p.Glu531Asp (Ensembl:ENSMUST00000058326) - c.1593G>T (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389298247 | 555 | S>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000080.7:g.52551530G>T Codon: TCA/TAA Consequence type: stop gained Cytogenetic band: 14q Genomic location: NC_000080.7:g.52551530G>T Locations: - p.Ser555Ter (Ensembl:ENSMUST00000058326) - c.1664C>A (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389337233 | 580 | P>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000080.7:g.52551456G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52551456G>C Locations: - p.Pro580Ala (Ensembl:ENSMUST00000058326) - c.1738C>G (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389326806 | 581 | L>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000080.7:g.52551452A>T Codon: TTG/TAG Consequence type: stop gained Cytogenetic band: 14q Genomic location: NC_000080.7:g.52551452A>T Locations: - p.Leu581Ter (Ensembl:ENSMUST00000058326) - c.1742T>A (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389332381 | 596 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.52551408C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52551408C>T Locations: - p.Glu596Lys (Ensembl:ENSMUST00000058326) - c.1786G>A (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389250352 | 606 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000080.7:g.52551378C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52551378C>T Locations: - p.Val606Met (Ensembl:ENSMUST00000058326) - c.1816G>A (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389325402 | 631 | C>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000080.7:g.52551301A>T Codon: TGT/TGA Consequence type: stop gained Cytogenetic band: 14q Genomic location: NC_000080.7:g.52551301A>T Locations: - p.Cys631Ter (Ensembl:ENSMUST00000058326) - c.1893T>A (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389342468 | 633 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.52551295G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52551295G>C Locations: - p.Ile633Met (Ensembl:ENSMUST00000058326) - c.1899C>G (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389332470 | 664 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.52551203C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52551203C>A Locations: - p.Arg664Leu (Ensembl:ENSMUST00000058326) - c.1991G>T (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs1134755885 | 715 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.52551050T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52551050T>C Locations: - p.Gln715Arg (Ensembl:ENSMUST00000058326) - c.2144A>G (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389337279 | 733 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000080.7:g.52550996T>A Codon: AAC/ATC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52550996T>A Locations: - p.Asn733Ile (Ensembl:ENSMUST00000058326) - c.2198A>T (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs237666782 | 743 | P>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000080.7:g.52550966G>T Codon: CCA/CAA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52550966G>T Locations: - p.Pro743Gln (Ensembl:ENSMUST00000058326) - c.2228C>A (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3405096284 | 754 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000080.7:g.52550934G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52550934G>T Locations: - p.Pro754Thr (Ensembl:ENSMUST00000058326) - c.2260C>A (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3404859817 | 762 | E>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000080.7:g.52550909T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52550909T>G Locations: - p.Glu762Ala (Ensembl:ENSMUST00000058326) - c.2285A>C (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3405180969 | 762 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000080.7:g.52550908C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52550908C>A Locations: - p.Glu762Asp (Ensembl:ENSMUST00000058326) - c.2286G>T (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs30707092 | 765 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.42) Somatic: No Accession: NC_000080.7:g.52550899T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52550899T>G Locations: - p.Glu765Asp (Ensembl:ENSMUST00000058326) - c.2295A>C (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs30369657 | 824 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000080.7:g.52550723C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52550723C>G Locations: - p.Ser824Thr (Ensembl:ENSMUST00000058326) - c.2471G>C (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389308609 | 866 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: NC_000080.7:g.52550598G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52550598G>C Locations: - p.Leu866Val (Ensembl:ENSMUST00000058326) - c.2596C>G (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs31390998 | 869 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000080.7:g.52550588G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52550588G>A Locations: - p.Thr869Ile (Ensembl:ENSMUST00000058326) - c.2606C>T (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3413024629 | 876 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000080.7:g.52550567A>C Codon: CTC/CGC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52550567A>C Locations: - p.Leu876Arg (Ensembl:ENSMUST00000058326) - c.2627T>G (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389317372 | 879 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000080.7:g.52550559C>A Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 14q Genomic location: NC_000080.7:g.52550559C>A Locations: - p.Glu879Ter (Ensembl:ENSMUST00000058326) - c.2635G>T (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389325389 | 879 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_000080.7:g.52550557T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52550557T>G Locations: - p.Glu879Asp (Ensembl:ENSMUST00000058326) - c.2637A>C (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389332485 | 888 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000080.7:g.52550532C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52550532C>A Locations: - p.Val888Leu (Ensembl:ENSMUST00000058326) - c.2662G>T (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389317321 | 895 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000080.7:g.52550511C>A Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 14q Genomic location: NC_000080.7:g.52550511C>A Locations: - p.Glu895Ter (Ensembl:ENSMUST00000058326) - c.2683G>T (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389280540 | 903 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000080.7:g.52550487C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52550487C>T Locations: - p.Glu903Lys (Ensembl:ENSMUST00000058326) - c.2707G>A (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389321504 | 961 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.52550313G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52550313G>A Locations: - p.His961Tyr (Ensembl:ENSMUST00000058326) - c.2881C>T (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: | |||||||
rs3389342438 | 977 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000080.7:g.52550265G>T Codon: CTT/ATT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.52550265G>T Locations: - p.Leu977Ile (Ensembl:ENSMUST00000058326) - c.2929C>A (Ensembl:ENSMUST00000058326) Source type: large scale study Cross-references: |