P70298 · CUX2_MOUSE
- ProteinHomeobox protein cut-like 2
- GeneCux2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1426 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388789091 | 82 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.98) Somatic: No Accession: NC_000071.7:g.122025423C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122025423C>T Locations: - p.Ala82Thr (Ensembl:ENSMUST00000111752) - c.244G>A (Ensembl:ENSMUST00000111752) - p.Ala82Thr (Ensembl:ENSMUST00000086317) - c.244G>A (Ensembl:ENSMUST00000086317) - p.Ala82Thr (Ensembl:ENSMUST00000168288) - c.244G>A (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3395751319 | 84 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000071.7:g.122024021T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122024021T>A Locations: - p.Glu84Val (Ensembl:ENSMUST00000111752) - c.251A>T (Ensembl:ENSMUST00000111752) - p.Glu84Val (Ensembl:ENSMUST00000086317) - c.251A>T (Ensembl:ENSMUST00000086317) - p.Glu84Val (Ensembl:ENSMUST00000168288) - c.251A>T (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388780693 | 106 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.51) Somatic: No Accession: NC_000071.7:g.122023956C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122023956C>T Locations: - p.Glu106Lys (Ensembl:ENSMUST00000111752) - c.316G>A (Ensembl:ENSMUST00000111752) - p.Glu106Lys (Ensembl:ENSMUST00000086317) - c.316G>A (Ensembl:ENSMUST00000086317) - p.Glu106Lys (Ensembl:ENSMUST00000168288) - c.316G>A (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3396081042 | 110 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000071.7:g.122023943A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122023943A>C Locations: - p.Val110Gly (Ensembl:ENSMUST00000111752) - c.329T>G (Ensembl:ENSMUST00000111752) - p.Val110Gly (Ensembl:ENSMUST00000086317) - c.329T>G (Ensembl:ENSMUST00000086317) - p.Val110Gly (Ensembl:ENSMUST00000168288) - c.329T>G (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388777961 | 135 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000071.7:g.122022854G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122022854G>C Locations: - p.Ala135Gly (Ensembl:ENSMUST00000111752) - c.404C>G (Ensembl:ENSMUST00000111752) - p.Ala135Gly (Ensembl:ENSMUST00000086317) - c.404C>G (Ensembl:ENSMUST00000086317) - p.Ala135Gly (Ensembl:ENSMUST00000168288) - c.404C>G (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388795929 | 149 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000071.7:g.122022813A>T Codon: TCA/ACA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122022813A>T Locations: - p.Ser149Thr (Ensembl:ENSMUST00000111752) - c.445T>A (Ensembl:ENSMUST00000111752) - p.Ser149Thr (Ensembl:ENSMUST00000086317) - c.445T>A (Ensembl:ENSMUST00000086317) - p.Ser149Thr (Ensembl:ENSMUST00000168288) - c.445T>A (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388789696 | 151 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000071.7:g.122022134G>C Codon: CTA/GTA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122022134G>C Locations: - p.Leu151Val (Ensembl:ENSMUST00000111752) - c.451C>G (Ensembl:ENSMUST00000111752) - p.Leu151Val (Ensembl:ENSMUST00000086317) - c.451C>G (Ensembl:ENSMUST00000086317) - p.Leu151Val (Ensembl:ENSMUST00000168288) - c.451C>G (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388785673 | 158 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000071.7:g.122022113G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122022113G>T Locations: - p.Leu158Met (Ensembl:ENSMUST00000111752) - c.472C>A (Ensembl:ENSMUST00000111752) - p.Leu158Met (Ensembl:ENSMUST00000086317) - c.472C>A (Ensembl:ENSMUST00000086317) - p.Leu158Met (Ensembl:ENSMUST00000168288) - c.472C>A (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388788659 | 165 | Y>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.122022092A>T Codon: TAC/AAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122022092A>T Locations: - p.Tyr165Asn (Ensembl:ENSMUST00000111752) - c.493T>A (Ensembl:ENSMUST00000111752) - p.Tyr165Asn (Ensembl:ENSMUST00000086317) - c.493T>A (Ensembl:ENSMUST00000086317) - p.Tyr165Asn (Ensembl:ENSMUST00000168288) - c.493T>A (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388789332 | 166 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000071.7:g.122022087A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122022087A>T Locations: - p.Asp166Glu (Ensembl:ENSMUST00000111752) - c.498T>A (Ensembl:ENSMUST00000111752) - p.Asp166Glu (Ensembl:ENSMUST00000086317) - c.498T>A (Ensembl:ENSMUST00000086317) - p.Asp166Glu (Ensembl:ENSMUST00000168288) - c.498T>A (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3395751337 | 219 | Q>T | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000071.7:g.122017904_122017905insGCTGGCGTCAGTCAACAGCTCCATTCGCCTGGCTTGCTGTTCCCCCCAGGGACCCAGTGGGGTAAGAAGGATGCACCTGGGACGTGGGGGAACAGCA Codon: -/ACGTCCCAGGTGCATCCTTCTTACCCCACTGGGTCCCTGGGGGGAACAGCAAGCCAGGCGAATGGAGCTGTTGACTGACGCCAGCTGCTGTTCCCCC Consequence type: stop gained Cytogenetic band: 5q Genomic location: NC_000071.7:g.122017904_122017905insGCTGGCGTCAGTCAACAGCTCCATTCGCCTGGCTTGCTGTTCCCCCCAGGGACCCAGTGGGGTAAGAAGGATGCACCTGGGACGTGGGGGAACAGCA Locations: - p.Gln219ThrfsTer26 (Ensembl:ENSMUST00000111752) - c.654_655insACGTCCCAGGTGCATCCTTCTTACCCCACTGGGTCCCTGGGGGGAACAGCAAGCCAGGCGAATGGAGCTGTTGACTGACGCCAGCTGCTGTTCCCCC (Ensembl:ENSMUST00000111752) - p.Gln219ThrfsTer26 (Ensembl:ENSMUST00000086317) - c.654_655insACGTCCCAGGTGCATCCTTCTTACCCCACTGGGTCCCTGGGGGGAACAGCAAGCCAGGCGAATGGAGCTGTTGACTGACGCCAGCTGCTGTTCCCCC (Ensembl:ENSMUST00000086317) - p.Gln219ThrfsTer26 (Ensembl:ENSMUST00000168288) - c.654_655insACGTCCCAGGTGCATCCTTCTTACCCCACTGGGTCCCTGGGGGGAACAGCAAGCCAGGCGAATGGAGCTGTTGACTGACGCCAGCTGCTGTTCCCCC (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388775031 | 229 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000071.7:g.122015206G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122015206G>A Locations: - p.Ala229Val (Ensembl:ENSMUST00000111752) - c.686C>T (Ensembl:ENSMUST00000111752) - p.Ala229Val (Ensembl:ENSMUST00000086317) - c.686C>T (Ensembl:ENSMUST00000086317) - p.Ala229Val (Ensembl:ENSMUST00000168288) - c.686C>T (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388795943 | 239 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000071.7:g.122015177C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122015177C>T Locations: - p.Ala239Thr (Ensembl:ENSMUST00000111752) - c.715G>A (Ensembl:ENSMUST00000111752) - p.Ala239Thr (Ensembl:ENSMUST00000086317) - c.715G>A (Ensembl:ENSMUST00000086317) - p.Ala239Thr (Ensembl:ENSMUST00000168288) - c.715G>A (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388774983 | 284 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000071.7:g.122015042C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122015042C>T Locations: - p.Glu284Lys (Ensembl:ENSMUST00000111752) - c.850G>A (Ensembl:ENSMUST00000111752) - p.Glu284Lys (Ensembl:ENSMUST00000086317) - c.850G>A (Ensembl:ENSMUST00000086317) - p.Glu284Lys (Ensembl:ENSMUST00000168288) - c.850G>A (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388777906 | 351 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000071.7:g.122013159G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122013159G>A Locations: - p.Ala351Val (Ensembl:ENSMUST00000111752) - c.1052C>T (Ensembl:ENSMUST00000111752) - p.Ala351Val (Ensembl:ENSMUST00000086317) - c.1052C>T (Ensembl:ENSMUST00000086317) - p.Ala351Val (Ensembl:ENSMUST00000168288) - c.1052C>T (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388785908 | 414 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000071.7:g.122012193G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122012193G>A Locations: - p.Ser414Phe (Ensembl:ENSMUST00000111752) - c.1241C>T (Ensembl:ENSMUST00000111752) - p.Ser414Phe (Ensembl:ENSMUST00000086317) - c.1241C>T (Ensembl:ENSMUST00000086317) - p.Ser414Phe (Ensembl:ENSMUST00000168288) - c.1241C>T (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388789296 | 435 | M>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000071.7:g.122012130A>C Codon: ATG/AGG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122012130A>C Locations: - p.Met435Arg (Ensembl:ENSMUST00000111752) - c.1304T>G (Ensembl:ENSMUST00000111752) - p.Met435Arg (Ensembl:ENSMUST00000086317) - c.1304T>G (Ensembl:ENSMUST00000086317) - p.Met435Arg (Ensembl:ENSMUST00000168288) - c.1304T>G (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs236655528 | 436 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000071.7:g.122012126C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122012126C>T Locations: - p.Met436Ile (Ensembl:ENSMUST00000111752) - c.1308G>A (Ensembl:ENSMUST00000111752) - p.Met436Ile (Ensembl:ENSMUST00000086317) - c.1308G>A (Ensembl:ENSMUST00000086317) - p.Met436Ile (Ensembl:ENSMUST00000168288) - c.1308G>A (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs237149722 | 454 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000071.7:g.122012074T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122012074T>C Locations: - p.Thr454Ala (Ensembl:ENSMUST00000111752) - c.1360A>G (Ensembl:ENSMUST00000111752) - p.Thr454Ala (Ensembl:ENSMUST00000086317) - c.1360A>G (Ensembl:ENSMUST00000086317) - p.Thr454Ala (Ensembl:ENSMUST00000168288) - c.1360A>G (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs258379145 | 471 | C>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.45) Somatic: No Accession: NC_000071.7:g.122012023A>C Codon: TGC/GGC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122012023A>C Locations: - p.Cys471Gly (Ensembl:ENSMUST00000111752) - c.1411T>G (Ensembl:ENSMUST00000111752) - p.Cys471Gly (Ensembl:ENSMUST00000086317) - c.1411T>G (Ensembl:ENSMUST00000086317) - p.Cys471Gly (Ensembl:ENSMUST00000168288) - c.1411T>G (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3396169217 | 478 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000071.7:g.122012002G>T Codon: CCG/ACG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122012002G>T Locations: - p.Pro478Thr (Ensembl:ENSMUST00000111752) - c.1432C>A (Ensembl:ENSMUST00000111752) - p.Pro478Thr (Ensembl:ENSMUST00000086317) - c.1432C>A (Ensembl:ENSMUST00000086317) - p.Pro478Thr (Ensembl:ENSMUST00000168288) - c.1432C>A (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388777938 | 480 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000071.7:g.122011996C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122011996C>T Locations: - p.Ala480Thr (Ensembl:ENSMUST00000111752) - c.1438G>A (Ensembl:ENSMUST00000111752) - p.Ala480Thr (Ensembl:ENSMUST00000086317) - c.1438G>A (Ensembl:ENSMUST00000086317) - p.Ala480Thr (Ensembl:ENSMUST00000168288) - c.1438G>A (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388789647 | 487-488 | EE>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000071.7:g.122011972_122011973insAACCATCACTCA Codon: -/TGAGTGATGGTT Consequence type: stop gained Cytogenetic band: 5q Genomic location: NC_000071.7:g.122011972_122011973insAACCATCACTCA Locations: - p.Glu487_Glu488insTer (Ensembl:ENSMUST00000111752) - c.1461_1462insTGAGTGATGGTT (Ensembl:ENSMUST00000111752) - p.Glu487_Glu488insTer (Ensembl:ENSMUST00000086317) - c.1461_1462insTGAGTGATGGTT (Ensembl:ENSMUST00000086317) - p.Glu487_Glu488insTer (Ensembl:ENSMUST00000168288) - c.1461_1462insTGAGTGATGGTT (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388759757 | 490 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000071.7:g.122011966G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122011966G>T Locations: - p.Gln490Lys (Ensembl:ENSMUST00000111752) - c.1468C>A (Ensembl:ENSMUST00000111752) - p.Gln490Lys (Ensembl:ENSMUST00000086317) - c.1468C>A (Ensembl:ENSMUST00000086317) - p.Gln490Lys (Ensembl:ENSMUST00000168288) - c.1468C>A (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388777904 | 530 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.122011846G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122011846G>T Locations: - p.Leu530Met (Ensembl:ENSMUST00000111752) - c.1588C>A (Ensembl:ENSMUST00000111752) - p.Leu530Met (Ensembl:ENSMUST00000086317) - c.1588C>A (Ensembl:ENSMUST00000086317) - p.Leu530Met (Ensembl:ENSMUST00000168288) - c.1588C>A (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs238411900 | 618 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000071.7:g.122007807G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122007807G>A Locations: - p.Pro618Leu (Ensembl:ENSMUST00000111752) - c.1853C>T (Ensembl:ENSMUST00000111752) - p.Pro618Leu (Ensembl:ENSMUST00000086317) - c.1853C>T (Ensembl:ENSMUST00000086317) - p.Pro618Leu (Ensembl:ENSMUST00000168288) - c.1853C>T (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388789152 | 643 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000071.7:g.122007732T>C Codon: CAA/CGA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122007732T>C Locations: - p.Gln643Arg (Ensembl:ENSMUST00000111752) - c.1928A>G (Ensembl:ENSMUST00000111752) - p.Gln643Arg (Ensembl:ENSMUST00000086317) - c.1928A>G (Ensembl:ENSMUST00000086317) - p.Gln643Arg (Ensembl:ENSMUST00000168288) - c.1928A>G (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs245568704 | 655 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.56) Somatic: No Accession: NC_000071.7:g.122007697C>A Codon: GGT/TGT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122007697C>A Locations: - p.Gly655Cys (Ensembl:ENSMUST00000111752) - c.1963G>T (Ensembl:ENSMUST00000111752) - p.Gly655Cys (Ensembl:ENSMUST00000086317) - c.1963G>T (Ensembl:ENSMUST00000086317) - p.Gly655Cys (Ensembl:ENSMUST00000168288) - c.1963G>T (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388780759 | 656 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: NC_000071.7:g.122007694G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122007694G>A Locations: - p.Pro656Ser (Ensembl:ENSMUST00000111752) - c.1966C>T (Ensembl:ENSMUST00000111752) - p.Pro656Ser (Ensembl:ENSMUST00000086317) - c.1966C>T (Ensembl:ENSMUST00000086317) - p.Pro656Ser (Ensembl:ENSMUST00000168288) - c.1966C>T (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388775047 | 670 | S>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.38) Somatic: No Accession: NC_000071.7:g.122007651G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122007651G>A Locations: - p.Ser670Leu (Ensembl:ENSMUST00000111752) - c.2009C>T (Ensembl:ENSMUST00000111752) - p.Ser670Leu (Ensembl:ENSMUST00000086317) - c.2009C>T (Ensembl:ENSMUST00000086317) - p.Ser670Leu (Ensembl:ENSMUST00000168288) - c.2009C>T (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388785676 | 673 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000071.7:g.122007643T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122007643T>C Locations: - p.Thr673Ala (Ensembl:ENSMUST00000111752) - c.2017A>G (Ensembl:ENSMUST00000111752) - p.Thr673Ala (Ensembl:ENSMUST00000086317) - c.2017A>G (Ensembl:ENSMUST00000086317) - p.Thr673Ala (Ensembl:ENSMUST00000168288) - c.2017A>G (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs260813761 | 681 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000071.7:g.122007619T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122007619T>C Locations: - p.Thr681Ala (Ensembl:ENSMUST00000111752) - c.2041A>G (Ensembl:ENSMUST00000111752) - p.Thr681Ala (Ensembl:ENSMUST00000086317) - c.2041A>G (Ensembl:ENSMUST00000086317) - p.Thr681Ala (Ensembl:ENSMUST00000168288) - c.2041A>G (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs212815831 | 694 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000071.7:g.122007580T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122007580T>C Locations: - p.Ser694Gly (Ensembl:ENSMUST00000111752) - c.2080A>G (Ensembl:ENSMUST00000111752) - p.Ser694Gly (Ensembl:ENSMUST00000086317) - c.2080A>G (Ensembl:ENSMUST00000086317) - p.Ser694Gly (Ensembl:ENSMUST00000168288) - c.2080A>G (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs249600938 | 700 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.122007561G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122007561G>A Locations: - p.Ala700Val (Ensembl:ENSMUST00000111752) - c.2099C>T (Ensembl:ENSMUST00000111752) - p.Ala700Val (Ensembl:ENSMUST00000086317) - c.2099C>T (Ensembl:ENSMUST00000086317) - p.Ala700Val (Ensembl:ENSMUST00000168288) - c.2099C>T (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3413100912 | 704 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.122007550C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122007550C>T Locations: - p.Val704Ile (Ensembl:ENSMUST00000111752) - c.2110G>A (Ensembl:ENSMUST00000111752) - p.Val704Ile (Ensembl:ENSMUST00000086317) - c.2110G>A (Ensembl:ENSMUST00000086317) - p.Val704Ile (Ensembl:ENSMUST00000168288) - c.2110G>A (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388791520 | 744 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000071.7:g.122007430C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122007430C>A Locations: - p.Ala744Ser (Ensembl:ENSMUST00000111752) - c.2230G>T (Ensembl:ENSMUST00000111752) - p.Ala744Ser (Ensembl:ENSMUST00000086317) - c.2230G>T (Ensembl:ENSMUST00000086317) - p.Ala744Ser (Ensembl:ENSMUST00000168288) - c.2230G>T (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388774991 | 755 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000071.7:g.122007395G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122007395G>T Locations: - p.Ser755Arg (Ensembl:ENSMUST00000111752) - c.2265C>A (Ensembl:ENSMUST00000111752) - p.Ser755Arg (Ensembl:ENSMUST00000086317) - c.2265C>A (Ensembl:ENSMUST00000086317) - p.Ser755Arg (Ensembl:ENSMUST00000168288) - c.2265C>A (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388789676 | 762 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.122007375C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122007375C>T Locations: - p.Gly762Glu (Ensembl:ENSMUST00000111752) - c.2285G>A (Ensembl:ENSMUST00000111752) - p.Gly762Glu (Ensembl:ENSMUST00000086317) - c.2285G>A (Ensembl:ENSMUST00000086317) - p.Gly762Glu (Ensembl:ENSMUST00000168288) - c.2285G>A (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388780669 | 787 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.34) Somatic: No Accession: NC_000071.7:g.122007300G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122007300G>A Locations: - p.Pro787Leu (Ensembl:ENSMUST00000111752) - c.2360C>T (Ensembl:ENSMUST00000111752) - p.Pro787Leu (Ensembl:ENSMUST00000086317) - c.2360C>T (Ensembl:ENSMUST00000086317) - p.Pro787Leu (Ensembl:ENSMUST00000168288) - c.2360C>T (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3412992045 | 802 | G>S | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000071.7:g.122007256_122007257insTCCACACTACCTCAACCATCACT Codon: -/AGTGATGGTTGAGGTAGTGTGGA Consequence type: stop gained Cytogenetic band: 5q Genomic location: NC_000071.7:g.122007256_122007257insTCCACACTACCTCAACCATCACT Locations: - p.Gly802SerfsTer4 (Ensembl:ENSMUST00000111752) - c.2403_2404insAGTGATGGTTGAGGTAGTGTGGA (Ensembl:ENSMUST00000111752) - p.Gly802SerfsTer4 (Ensembl:ENSMUST00000086317) - c.2403_2404insAGTGATGGTTGAGGTAGTGTGGA (Ensembl:ENSMUST00000086317) - p.Gly802SerfsTer4 (Ensembl:ENSMUST00000168288) - c.2403_2404insAGTGATGGTTGAGGTAGTGTGGA (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3396130017 | 915 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000071.7:g.122006525T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122006525T>C Locations: - p.Gln915Arg (Ensembl:ENSMUST00000111752) - c.2744A>G (Ensembl:ENSMUST00000111752) - p.Gln915Arg (Ensembl:ENSMUST00000086317) - c.2744A>G (Ensembl:ENSMUST00000086317) - p.Gln915Arg (Ensembl:ENSMUST00000168288) - c.2744A>G (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388785661 | 928 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000071.7:g.122005403A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122005403A>T Locations: - p.Ser928Thr (Ensembl:ENSMUST00000111752) - c.2782T>A (Ensembl:ENSMUST00000111752) - p.Ser928Thr (Ensembl:ENSMUST00000086317) - c.2782T>A (Ensembl:ENSMUST00000086317) - p.Ser928Thr (Ensembl:ENSMUST00000168288) - c.2782T>A (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388785600 | 939 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000071.7:g.122005369G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122005369G>A Locations: - p.Pro939Leu (Ensembl:ENSMUST00000111752) - c.2816C>T (Ensembl:ENSMUST00000111752) - p.Pro939Leu (Ensembl:ENSMUST00000086317) - c.2816C>T (Ensembl:ENSMUST00000086317) - p.Pro939Leu (Ensembl:ENSMUST00000168288) - c.2816C>T (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388793424 | 942 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000071.7:g.122005360G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122005360G>A Locations: - p.Thr942Met (Ensembl:ENSMUST00000111752) - c.2825C>T (Ensembl:ENSMUST00000111752) - p.Thr942Met (Ensembl:ENSMUST00000086317) - c.2825C>T (Ensembl:ENSMUST00000086317) - p.Thr942Met (Ensembl:ENSMUST00000168288) - c.2825C>T (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs222523291 | 943 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000071.7:g.122005358A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122005358A>G Locations: - p.Ser943Pro (Ensembl:ENSMUST00000111752) - c.2827T>C (Ensembl:ENSMUST00000111752) - p.Ser943Pro (Ensembl:ENSMUST00000086317) - c.2827T>C (Ensembl:ENSMUST00000086317) - p.Ser943Pro (Ensembl:ENSMUST00000168288) - c.2827T>C (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs237497475 | 951 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.122005334G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122005334G>T Locations: - p.Leu951Met (Ensembl:ENSMUST00000111752) - c.2851C>A (Ensembl:ENSMUST00000111752) - p.Leu951Met (Ensembl:ENSMUST00000086317) - c.2851C>A (Ensembl:ENSMUST00000086317) - p.Leu951Met (Ensembl:ENSMUST00000168288) - c.2851C>A (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388759691 | 954 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.122005324C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122005324C>T Locations: - p.Ser954Asn (Ensembl:ENSMUST00000111752) - c.2861G>A (Ensembl:ENSMUST00000111752) - p.Ser954Asn (Ensembl:ENSMUST00000086317) - c.2861G>A (Ensembl:ENSMUST00000086317) - p.Ser954Asn (Ensembl:ENSMUST00000168288) - c.2861G>A (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3410870070 | 965 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000071.7:g.122005291C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122005291C>A Locations: - p.Ser965Ile (Ensembl:ENSMUST00000111752) - c.2894G>T (Ensembl:ENSMUST00000111752) - p.Ser965Ile (Ensembl:ENSMUST00000086317) - c.2894G>T (Ensembl:ENSMUST00000086317) - p.Ser965Ile (Ensembl:ENSMUST00000168288) - c.2894G>T (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388782714 | 971 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.122005274T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122005274T>C Locations: - p.Lys971Glu (Ensembl:ENSMUST00000111752) - c.2911A>G (Ensembl:ENSMUST00000111752) - p.Lys971Glu (Ensembl:ENSMUST00000086317) - c.2911A>G (Ensembl:ENSMUST00000086317) - p.Lys971Glu (Ensembl:ENSMUST00000168288) - c.2911A>G (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388789126 | 989 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.122005219G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122005219G>A Locations: - p.Ser989Phe (Ensembl:ENSMUST00000111752) - c.2966C>T (Ensembl:ENSMUST00000111752) - p.Ser989Phe (Ensembl:ENSMUST00000086317) - c.2966C>T (Ensembl:ENSMUST00000086317) - p.Ser989Phe (Ensembl:ENSMUST00000168288) - c.2966C>T (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388791486 | 1119 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.122002849C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122002849C>A Locations: - p.Val1119Leu (Ensembl:ENSMUST00000111752) - c.3355G>T (Ensembl:ENSMUST00000111752) - p.Val1119Leu (Ensembl:ENSMUST00000086317) - c.3355G>T (Ensembl:ENSMUST00000086317) - p.Val1119Leu (Ensembl:ENSMUST00000168288) - c.3355G>T (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3396277242 | 1120 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.122002845A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.122002845A>G Locations: - p.Leu1120Pro (Ensembl:ENSMUST00000111752) - c.3359T>C (Ensembl:ENSMUST00000111752) - p.Leu1120Pro (Ensembl:ENSMUST00000086317) - c.3359T>C (Ensembl:ENSMUST00000086317) - p.Leu1120Pro (Ensembl:ENSMUST00000168288) - c.3359T>C (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388774990 | 1170 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.121999430C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.121999430C>T Locations: - p.Arg1170His (Ensembl:ENSMUST00000111752) - c.3509G>A (Ensembl:ENSMUST00000111752) - p.Arg1170His (Ensembl:ENSMUST00000086317) - c.3509G>A (Ensembl:ENSMUST00000086317) - p.Arg1170His (Ensembl:ENSMUST00000168288) - c.3509G>A (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388775061 | 1175 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000071.7:g.121999415T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.121999415T>C Locations: - p.Glu1175Gly (Ensembl:ENSMUST00000111752) - c.3524A>G (Ensembl:ENSMUST00000111752) - p.Glu1175Gly (Ensembl:ENSMUST00000086317) - c.3524A>G (Ensembl:ENSMUST00000086317) - p.Glu1175Gly (Ensembl:ENSMUST00000168288) - c.3524A>G (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388793437 | 1175 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.121999416C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.121999416C>T Locations: - p.Glu1175Lys (Ensembl:ENSMUST00000111752) - c.3523G>A (Ensembl:ENSMUST00000111752) - p.Glu1175Lys (Ensembl:ENSMUST00000086317) - c.3523G>A (Ensembl:ENSMUST00000086317) - p.Glu1175Lys (Ensembl:ENSMUST00000168288) - c.3523G>A (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388775003 | 1180 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000071.7:g.121999401C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.121999401C>A Locations: - p.Asp1180Tyr (Ensembl:ENSMUST00000111752) - c.3538G>T (Ensembl:ENSMUST00000111752) - p.Asp1180Tyr (Ensembl:ENSMUST00000086317) - c.3538G>T (Ensembl:ENSMUST00000086317) - p.Asp1180Tyr (Ensembl:ENSMUST00000168288) - c.3538G>T (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs255246670 | 1189 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.46) Somatic: No Accession: NC_000071.7:g.121999374G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.121999374G>A Locations: - p.Pro1189Ser (Ensembl:ENSMUST00000111752) - c.3565C>T (Ensembl:ENSMUST00000111752) - p.Pro1189Ser (Ensembl:ENSMUST00000086317) - c.3565C>T (Ensembl:ENSMUST00000086317) - p.Pro1189Ser (Ensembl:ENSMUST00000168288) - c.3565C>T (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs235549227 | 1202 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000071.7:g.121999334G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.121999334G>A Locations: - p.Thr1202Ile (Ensembl:ENSMUST00000111752) - c.3605C>T (Ensembl:ENSMUST00000111752) - p.Thr1202Ile (Ensembl:ENSMUST00000086317) - c.3605C>T (Ensembl:ENSMUST00000086317) - p.Thr1202Ile (Ensembl:ENSMUST00000168288) - c.3605C>T (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388795904 | 1231 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.38) Somatic: No Accession: NC_000071.7:g.121999248G>C Codon: CGA/GGA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.121999248G>C Locations: - p.Arg1231Gly (Ensembl:ENSMUST00000111752) - c.3691C>G (Ensembl:ENSMUST00000111752) - p.Arg1231Gly (Ensembl:ENSMUST00000086317) - c.3691C>G (Ensembl:ENSMUST00000086317) - p.Arg1231Gly (Ensembl:ENSMUST00000168288) - c.3691C>G (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs238721132 | 1267 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000071.7:g.121999139C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.121999139C>T Locations: - p.Gly1267Asp (Ensembl:ENSMUST00000111752) - c.3800G>A (Ensembl:ENSMUST00000111752) - p.Gly1267Asp (Ensembl:ENSMUST00000086317) - c.3800G>A (Ensembl:ENSMUST00000086317) - p.Gly1267Asp (Ensembl:ENSMUST00000168288) - c.3800G>A (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs213440921 | 1273 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.58) Somatic: No Accession: NC_000071.7:g.121999122T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.121999122T>A Locations: - p.Thr1273Ser (Ensembl:ENSMUST00000111752) - c.3817A>T (Ensembl:ENSMUST00000111752) - p.Thr1273Ser (Ensembl:ENSMUST00000086317) - c.3817A>T (Ensembl:ENSMUST00000086317) - p.Thr1273Ser (Ensembl:ENSMUST00000168288) - c.3817A>T (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388789694 | 1291 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000071.7:g.121999068A>G Codon: TCA/CCA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.121999068A>G Locations: - p.Ser1291Pro (Ensembl:ENSMUST00000111752) - c.3871T>C (Ensembl:ENSMUST00000111752) - p.Ser1291Pro (Ensembl:ENSMUST00000086317) - c.3871T>C (Ensembl:ENSMUST00000086317) - p.Ser1291Pro (Ensembl:ENSMUST00000168288) - c.3871T>C (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388793463 | 1309 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.75) Somatic: No Accession: NC_000071.7:g.121999014T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.121999014T>C Locations: - p.Thr1309Ala (Ensembl:ENSMUST00000111752) - c.3925A>G (Ensembl:ENSMUST00000111752) - p.Thr1309Ala (Ensembl:ENSMUST00000086317) - c.3925A>G (Ensembl:ENSMUST00000086317) - p.Thr1309Ala (Ensembl:ENSMUST00000168288) - c.3925A>G (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388789347 | 1323 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000071.7:g.121998971G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.121998971G>A Locations: - p.Thr1323Ile (Ensembl:ENSMUST00000111752) - c.3968C>T (Ensembl:ENSMUST00000111752) - p.Thr1323Ile (Ensembl:ENSMUST00000086317) - c.3968C>T (Ensembl:ENSMUST00000086317) - p.Thr1323Ile (Ensembl:ENSMUST00000168288) - c.3968C>T (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs224845871 | 1340 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000071.7:g.121998920A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.121998920A>G Locations: - p.Val1340Ala (Ensembl:ENSMUST00000111752) - c.4019T>C (Ensembl:ENSMUST00000111752) - p.Val1340Ala (Ensembl:ENSMUST00000086317) - c.4019T>C (Ensembl:ENSMUST00000086317) - p.Val1340Ala (Ensembl:ENSMUST00000168288) - c.4019T>C (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3388789128 | 1402 | M>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000071.7:g.121998735T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.121998735T>C Locations: - p.Met1402Val (Ensembl:ENSMUST00000111752) - c.4204A>G (Ensembl:ENSMUST00000111752) - p.Met1402Val (Ensembl:ENSMUST00000086317) - c.4204A>G (Ensembl:ENSMUST00000086317) - p.Met1402Val (Ensembl:ENSMUST00000168288) - c.4204A>G (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: | |||||||
rs3396102669 | 1416 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.121998692G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.121998692G>A Locations: - p.Ala1416Val (Ensembl:ENSMUST00000111752) - c.4247C>T (Ensembl:ENSMUST00000111752) - p.Ala1416Val (Ensembl:ENSMUST00000086317) - c.4247C>T (Ensembl:ENSMUST00000086317) - p.Ala1416Val (Ensembl:ENSMUST00000168288) - c.4247C>T (Ensembl:ENSMUST00000168288) Source type: large scale study Cross-references: |