Q8C267 · SETB2_MOUSE
- ProteinHistone-lysine N-methyltransferase SETDB2
- GeneSetdb2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids713 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs36443936 | 50 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: NC_000080.7:g.59663997A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59663997A>G Locations: - p.Val50Ala (Ensembl:ENSMUST00000095775) - c.149T>C (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs232338502 | 90 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.45) Somatic: No Accession: NC_000080.7:g.59660921A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59660921A>G Locations: - p.Val90Ala (Ensembl:ENSMUST00000095775) - c.269T>C (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3389298495 | 116 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_000080.7:g.59660843G>T Codon: ACT/AAT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59660843G>T Locations: - p.Thr116Asn (Ensembl:ENSMUST00000095775) - c.347C>A (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs214005954 | 117 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.73) Somatic: No Accession: NC_000080.7:g.59660841T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59660841T>C Locations: - p.Ile117Val (Ensembl:ENSMUST00000095775) - c.349A>G (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs240415476 | 130 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000080.7:g.59656975T>A Codon: AAT/ATT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59656975T>A Locations: - p.Asn130Ile (Ensembl:ENSMUST00000095775) - c.389A>T (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs218175163 | 144 | I>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000080.7:g.59656934T>A Codon: ATA/TTA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59656934T>A Locations: - p.Ile144Leu (Ensembl:ENSMUST00000095775) - c.430A>T (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3405156609 | 193-194 | VN>S* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000080.7:g.59656785_59656786insTACGAA Codon: GTG/GTTTCGTAG Consequence type: stop gained Cytogenetic band: 14q Genomic location: NC_000080.7:g.59656785_59656786insTACGAA Locations: - p.Val193_Asn194insSerTer (Ensembl:ENSMUST00000095775) - c.578_579insTTCGTA (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3405156609 | 194 | N>S | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000080.7:g.59656785_59656786insTCATTCTTCTGCCCTCCATGTGAATTATAAAACGCCCTGTGGACGGAATCTACGAA Codon: GTG/GTTTCGTAGATTCCGTCCACAGGGCGTTTTATAATTCACATGGAGGGCAGAAGAATGAG Consequence type: stop gained Cytogenetic band: 14q Genomic location: NC_000080.7:g.59656785_59656786insTCATTCTTCTGCCCTCCATGTGAATTATAAAACGCCCTGTGGACGGAATCTACGAA Locations: - p.Asn194SerfsTer2 (Ensembl:ENSMUST00000095775) - c.578_579insTTCGTAGATTCCGTCCACAGGGCGTTTTATAATTCACATGGAGGGCAGAAGAATGA (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3404719516 | 198 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.59656772G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59656772G>A Locations: - p.Pro198Ser (Ensembl:ENSMUST00000095775) - c.592C>T (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3389335641 | 202 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.59656758A>T Codon: AAT/AAA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59656758A>T Locations: - p.Asn202Lys (Ensembl:ENSMUST00000095775) - c.606T>A (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3405160691 | 208 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.59656741T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59656741T>C Locations: - p.Glu208Gly (Ensembl:ENSMUST00000095775) - c.623A>G (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3389337634 | 218 | C>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.59656710A>C Codon: TGT/TGG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59656710A>C Locations: - p.Cys218Trp (Ensembl:ENSMUST00000095775) - c.654T>G (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3550972931 | 258 | S>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.59656591G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59656591G>A Locations: - p.Ser258Leu (Ensembl:ENSMUST00000095775) - c.773C>T (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs230569351 | 259 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.56) Somatic: No Accession: NC_000080.7:g.59656589T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59656589T>C Locations: - p.Ile259Val (Ensembl:ENSMUST00000095775) - c.775A>G (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3389337675 | 301 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.59656462C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59656462C>T Locations: - p.Gly301Asp (Ensembl:ENSMUST00000095775) - c.902G>A (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3389257745 | 308 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.59654966C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59654966C>T Locations: - p.Cys308Tyr (Ensembl:ENSMUST00000095775) - c.923G>A (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3389335682 | 336 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.59654883T>C Codon: AGA/GGA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59654883T>C Locations: - p.Arg336Gly (Ensembl:ENSMUST00000095775) - c.1006A>G (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs229741728 | 369 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000080.7:g.59653243C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59653243C>T Locations: - p.Arg369Gln (Ensembl:ENSMUST00000095775) - c.1106G>A (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3389335657 | 378 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.59653216T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59653216T>A Locations: - p.Glu378Val (Ensembl:ENSMUST00000095775) - c.1133A>T (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3389289216 | 379 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.59653214T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59653214T>C Locations: - p.Lys379Glu (Ensembl:ENSMUST00000095775) - c.1135A>G (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3389307713 | 380 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000080.7:g.59653211T>A Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 14q Genomic location: NC_000080.7:g.59653211T>A Locations: - p.Lys380Ter (Ensembl:ENSMUST00000095775) - c.1138A>T (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3389332522 | 383 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.59653201C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59653201C>T Locations: - p.Gly383Glu (Ensembl:ENSMUST00000095775) - c.1148G>A (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3389330564 | 390 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.59653179A>C Codon: ATT/ATG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59653179A>C Locations: - p.Ile390Met (Ensembl:ENSMUST00000095775) - c.1170T>G (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3389332559 | 396 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.59653162A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59653162A>T Locations: - p.Val396Glu (Ensembl:ENSMUST00000095775) - c.1187T>A (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3389307685 | 411 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.55) Somatic: No Accession: NC_000080.7:g.59651099T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59651099T>C Locations: - p.Lys411Glu (Ensembl:ENSMUST00000095775) - c.1231A>G (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs224185135 | 419 | R>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: NC_000080.7:g.59651074C>G Codon: AGA/ACA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59651074C>G Locations: - p.Arg419Thr (Ensembl:ENSMUST00000095775) - c.1256G>C (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs864270788 | 434 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000080.7:g.59651029T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59651029T>C Locations: - p.Lys434Arg (Ensembl:ENSMUST00000095775) - c.1301A>G (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3551120537 | 494 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000080.7:g.59650181G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59650181G>A Locations: - p.His494Tyr (Ensembl:ENSMUST00000095775) - c.1480C>T (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs238286029 | 539 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.43) Somatic: No Accession: NC_000080.7:g.59646946G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59646946G>A Locations: - p.Ala539Val (Ensembl:ENSMUST00000095775) - c.1616C>T (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3551120354 | 544 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000080.7:g.59646932C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59646932C>A Locations: - p.Asp544Tyr (Ensembl:ENSMUST00000095775) - c.1630G>T (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs225096108 | 545 | T>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.7) Somatic: No Accession: NC_000080.7:g.59646928G>T Codon: ACA/AAA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59646928G>T Locations: - p.Thr545Lys (Ensembl:ENSMUST00000095775) - c.1634C>A (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs225096108 | 545 | T>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000080.7:g.59646928G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59646928G>C Locations: - p.Thr545Arg (Ensembl:ENSMUST00000095775) - c.1634C>G (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3389330323 | 546 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000080.7:g.59646924C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59646924C>G Locations: - p.Gln546His (Ensembl:ENSMUST00000095775) - c.1638G>C (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs240350020 | 563 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.78) Somatic: No Accession: NC_000080.7:g.59646875C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59646875C>A Locations: - p.Ala563Ser (Ensembl:ENSMUST00000095775) - c.1687G>T (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs217407392 | 564 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000080.7:g.59646871G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59646871G>A Locations: - p.Pro564Leu (Ensembl:ENSMUST00000095775) - c.1691C>T (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs230512214 | 576 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.47) Somatic: No Accession: NC_000080.7:g.59646836G>T Codon: CGT/AGT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59646836G>T Locations: - p.Arg576Ser (Ensembl:ENSMUST00000095775) - c.1726C>A (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs251336705 | 587 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000080.7:g.59646802C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59646802C>T Locations: - p.Gly587Glu (Ensembl:ENSMUST00000095775) - c.1760G>A (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs211925778 | 587 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.52) Somatic: No Accession: NC_000080.7:g.59646803C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59646803C>T Locations: - p.Gly587Arg (Ensembl:ENSMUST00000095775) - c.1759G>A (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs251336705 | 587 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_000080.7:g.59646802C>A Codon: GGA/GTA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59646802C>A Locations: - p.Gly587Val (Ensembl:ENSMUST00000095775) - c.1760G>T (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs263438468 | 589 | K>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: NC_000080.7:g.59646796T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59646796T>G Locations: - p.Lys589Thr (Ensembl:ENSMUST00000095775) - c.1766A>C (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3405469115 | 597 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000080.7:g.59646772G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59646772G>C Locations: - p.Ala597Gly (Ensembl:ENSMUST00000095775) - c.1790C>G (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3405132591 | 598 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.66) Somatic: No Accession: NC_000080.7:g.59646769G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59646769G>A Locations: - p.Ser598Phe (Ensembl:ENSMUST00000095775) - c.1793C>T (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3405151568 | 599 | Q>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000080.7:g.59646767G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59646767G>C Locations: - p.Gln599Glu (Ensembl:ENSMUST00000095775) - c.1795C>G (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3405132578 | 600 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000080.7:g.59646762G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59646762G>C Locations: - p.Ser600Arg (Ensembl:ENSMUST00000095775) - c.1800C>G (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3404923809 | 601 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000080.7:g.59646760T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59646760T>A Locations: - p.Gln601Leu (Ensembl:ENSMUST00000095775) - c.1802A>T (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3389332519 | 615 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.56) Somatic: No Accession: NC_000080.7:g.59646717C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59646717C>G Locations: - p.Lys615Asn (Ensembl:ENSMUST00000095775) - c.1845G>C (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3389350427 | 617 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000080.7:g.59646712G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59646712G>A Locations: - p.Pro617Leu (Ensembl:ENSMUST00000095775) - c.1850C>T (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3389330308 | 626 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000080.7:g.59646686T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59646686T>C Locations: - p.Lys626Glu (Ensembl:ENSMUST00000095775) - c.1876A>G (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3389345936 | 627 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000080.7:g.59646684_59646685insACACTACCTCAACCATCAC Codon: -/TGATGGTTGAGGTAGTGTG Consequence type: stop gained Cytogenetic band: 14q Genomic location: NC_000080.7:g.59646684_59646685insACACTACCTCAACCATCAC Locations: - p.Glu627Ter (Ensembl:ENSMUST00000095775) - c.1878_1879insTGATGGTTGAGGTAGTGTG (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3389257687 | 628 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000080.7:g.59646680T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59646680T>C Locations: - p.Ser628Gly (Ensembl:ENSMUST00000095775) - c.1882A>G (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3389350489 | 629 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000080.7:g.59646677G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59646677G>T Locations: - p.Leu629Met (Ensembl:ENSMUST00000095775) - c.1885C>A (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3389289265 | 645 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.59646627A>T Codon: AAT/AAA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59646627A>T Locations: - p.Asn645Lys (Ensembl:ENSMUST00000095775) - c.1935T>A (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3389337638 | 655 | Q>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000080.7:g.59644156G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59644156G>C Locations: - p.Gln655Glu (Ensembl:ENSMUST00000095775) - c.1963C>G (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3389332532 | 656 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.59644151A>C Codon: AAT/AAG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59644151A>C Locations: - p.Asn656Lys (Ensembl:ENSMUST00000095775) - c.1968T>G (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs222170266 | 692 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.59639815C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59639815C>T Locations: - p.Gly692Glu (Ensembl:ENSMUST00000095775) - c.2075G>A (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs262496432 | 693 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000080.7:g.59639813C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59639813C>T Locations: - p.Ala693Thr (Ensembl:ENSMUST00000095775) - c.2077G>A (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs236254105 | 694 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000080.7:g.59639809G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59639809G>A Locations: - p.Thr694Met (Ensembl:ENSMUST00000095775) - c.2081C>T (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: | |||||||
rs3389332573 | 707 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000080.7:g.59639769C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.59639769C>A Locations: - p.Lys707Asn (Ensembl:ENSMUST00000095775) - c.2121G>T (Ensembl:ENSMUST00000095775) Source type: large scale study Cross-references: |