Q3LFS9 · Q3LFS9_MOUSE
- ProteinCEA cell adhesion molecule 1
- GeneCeacam1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids341 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3545456298 | 4 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000073.7:g.25176950C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25176950C>T Locations: - p.Ala4Thr (Ensembl:ENSMUST00000098668) - c.10G>A (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs47940713 | 16 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000073.7:g.25176913C>A Codon: GGA/GTA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25176913C>A Locations: - p.Gly16Val (Ensembl:ENSMUST00000098668) - c.47G>T (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs232076910 | 31 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000073.7:g.25176102C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25176102C>G Locations: - p.Ala31Pro (Ensembl:ENSMUST00000098668) - c.91G>C (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs3397291010 | 35 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.25176088T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25176088T>G Locations: - p.Glu35Asp (Ensembl:ENSMUST00000098668) - c.105A>C (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs233516828 | 35 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000073.7:g.25176090C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25176090C>G Locations: - p.Glu35Gln (Ensembl:ENSMUST00000098668) - c.103G>C (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs3397748610 | 36 | V>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000073.7:g.25176087C>A Codon: GTC/TTC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25176087C>A Locations: - p.Val36Phe (Ensembl:ENSMUST00000098668) - c.106G>T (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs3397614063 | 42 | P>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.25176069G>C Codon: CCG/GCG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25176069G>C Locations: - p.Pro42Ala (Ensembl:ENSMUST00000098668) - c.124C>G (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs3388849806 | 56 | H>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000073.7:g.25176026T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25176026T>C Locations: - p.His56Arg (Ensembl:ENSMUST00000098668) - c.167A>G (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs253713785 | 59 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_000073.7:g.25176018G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25176018G>A Locations: - p.Pro59Ser (Ensembl:ENSMUST00000098668) - c.175C>T (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs3388849797 | 62 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: NC_000073.7:g.25176008A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25176008A>G Locations: - p.Leu62Pro (Ensembl:ENSMUST00000098668) - c.185T>C (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs3388849748 | 65 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000073.7:g.25175999A>T Codon: TTT/TAT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175999A>T Locations: - p.Phe65Tyr (Ensembl:ENSMUST00000098668) - c.194T>A (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs3388877431 | 70 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.25175984C>A Codon: GGA/GTA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175984C>A Locations: - p.Gly70Val (Ensembl:ENSMUST00000098668) - c.209G>T (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs579770747 | 72 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: NC_000073.7:g.25175979T>G Codon: ACT/CCT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175979T>G Locations: - p.Thr72Pro (Ensembl:ENSMUST00000098668) - c.214A>C (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs586894327 | 73 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000073.7:g.25175976T>C Codon: ACG/GCG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175976T>C Locations: - p.Thr73Ala (Ensembl:ENSMUST00000098668) - c.217A>G (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs583516636 | 73 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000073.7:g.25175975G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175975G>A Locations: - p.Thr73Met (Ensembl:ENSMUST00000098668) - c.218C>T (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs580137773 | 74 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000073.7:g.25175973C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175973C>A Locations: - p.Ala74Ser (Ensembl:ENSMUST00000098668) - c.220G>T (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs582660622 | 75 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000073.7:g.25175968T>C Codon: ATA/ATG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175968T>C Locations: - p.Ile75Met (Ensembl:ENSMUST00000098668) - c.225A>G (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs585735508 | 75 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.52) Somatic: No Accession: NC_000073.7:g.25175969A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175969A>G Locations: - p.Ile75Thr (Ensembl:ENSMUST00000098668) - c.224T>C (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs580378320 | 76 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000073.7:g.25175967C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175967C>T Locations: - p.Asp76Asn (Ensembl:ENSMUST00000098668) - c.226G>A (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs586460623 | 77 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000073.7:g.25175964T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175964T>C Locations: - p.Lys77Glu (Ensembl:ENSMUST00000098668) - c.229A>G (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs578501129 | 77 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.47) Somatic: No Accession: NC_000073.7:g.25175962T>A Codon: AAA/AAT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175962T>A Locations: - p.Lys77Asn (Ensembl:ENSMUST00000098668) - c.231A>T (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs581921668 | 77 | K>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000073.7:g.25175963T>G Codon: AAA/ACA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175963T>G Locations: - p.Lys77Thr (Ensembl:ENSMUST00000098668) - c.230A>C (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs584564641 | 80 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000073.7:g.25175954G>C Codon: GCA/GGA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175954G>C Locations: - p.Ala80Gly (Ensembl:ENSMUST00000098668) - c.239C>G (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs584564641 | 80 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.79) Somatic: No Accession: NC_000073.7:g.25175954G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175954G>A Locations: - p.Ala80Val (Ensembl:ENSMUST00000098668) - c.239C>T (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs578901101 | 81 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000073.7:g.25175951C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175951C>T Locations: - p.Arg81Gln (Ensembl:ENSMUST00000098668) - c.242G>A (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs581435908 | 84 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000073.7:g.25175943G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175943G>T Locations: - p.Pro84Thr (Ensembl:ENSMUST00000098668) - c.250C>A (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs579224905 | 85 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000073.7:g.25175940T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175940T>C Locations: - p.Asn85Asp (Ensembl:ENSMUST00000098668) - c.253A>G (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs585241408 | 85 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: NC_000073.7:g.25175939T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175939T>C Locations: - p.Asn85Ser (Ensembl:ENSMUST00000098668) - c.254A>G (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs585241408 | 85 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000073.7:g.25175939T>G Codon: AAT/ACT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175939T>G Locations: - p.Asn85Thr (Ensembl:ENSMUST00000098668) - c.254A>C (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs579224905 | 85 | N>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000073.7:g.25175940T>A Codon: AAT/TAT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175940T>A Locations: - p.Asn85Tyr (Ensembl:ENSMUST00000098668) - c.253A>T (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs586700344 | 86 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000073.7:g.25175936C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175936C>A Locations: - p.Ser86Ile (Ensembl:ENSMUST00000098668) - c.257G>T (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs586700344 | 86 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000073.7:g.25175936C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175936C>G Locations: - p.Ser86Thr (Ensembl:ENSMUST00000098668) - c.257G>C (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs583336804 | 88 | M>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.88) Somatic: No Accession: NC_000073.7:g.25175930A>T Codon: ATG/AAG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175930A>T Locations: - p.Met88Lys (Ensembl:ENSMUST00000098668) - c.263T>A (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs3388891114 | 88 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000073.7:g.25175931T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175931T>A Locations: - p.Met88Leu (Ensembl:ENSMUST00000098668) - c.262A>T (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs583336804 | 88 | M>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.49) Somatic: No Accession: NC_000073.7:g.25175930A>C Codon: ATG/AGG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175930A>C Locations: - p.Met88Arg (Ensembl:ENSMUST00000098668) - c.263T>G (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs581135487 | 89 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_000073.7:g.25175927T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175927T>C Locations: - p.Asn89Ser (Ensembl:ENSMUST00000098668) - c.266A>G (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs581135487 | 89 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000073.7:g.25175927T>G Codon: AAT/ACT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175927T>G Locations: - p.Asn89Thr (Ensembl:ENSMUST00000098668) - c.266A>C (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs587090316 | 90 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.37) Somatic: No Accession: NC_000073.7:g.25175925A>T Codon: TTC/ATC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175925A>T Locations: - p.Phe90Ile (Ensembl:ENSMUST00000098668) - c.268T>A (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs580241244 | 90 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000073.7:g.25175923G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175923G>T Locations: - p.Phe90Leu (Ensembl:ENSMUST00000098668) - c.270C>A (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs583456909 | 90 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000073.7:g.25175924A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175924A>G Locations: - p.Phe90Ser (Ensembl:ENSMUST00000098668) - c.269T>C (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs585925681 | 91 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000073.7:g.25175921G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175921G>A Locations: - p.Thr91Met (Ensembl:ENSMUST00000098668) - c.272C>T (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs225644318 | 93 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000073.7:g.25175914T>A Codon: CAA/CAT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175914T>A Locations: - p.Gln93His (Ensembl:ENSMUST00000098668) - c.279A>T (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs579494163 | 93 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000073.7:g.25175915T>A Codon: CAA/CTA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175915T>A Locations: - p.Gln93Leu (Ensembl:ENSMUST00000098668) - c.278A>T (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs579494163 | 93 | Q>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000073.7:g.25175915T>G Codon: CAA/CCA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175915T>G Locations: - p.Gln93Pro (Ensembl:ENSMUST00000098668) - c.278A>C (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs256602984 | 95 | Y>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.71) Somatic: No Accession: NC_000073.7:g.25175910A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175910A>G Locations: - p.Tyr95His (Ensembl:ENSMUST00000098668) - c.283T>C (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs245857052 | 100 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000073.7:g.25175894A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175894A>G Locations: - p.Ile100Thr (Ensembl:ENSMUST00000098668) - c.299T>C (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs225672491 | 101 | I>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_000073.7:g.25175892T>A Codon: ATA/TTA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175892T>A Locations: - p.Ile101Leu (Ensembl:ENSMUST00000098668) - c.301A>T (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs225672491 | 101 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000073.7:g.25175892T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175892T>C Locations: - p.Ile101Val (Ensembl:ENSMUST00000098668) - c.301A>G (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs3388889866 | 108 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.25175870A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175870A>G Locations: - p.Leu108Pro (Ensembl:ENSMUST00000098668) - c.323T>C (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs251436810 | 109 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: NC_000073.7:g.25175868A>T Codon: TTC/ATC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175868A>T Locations: - p.Phe109Ile (Ensembl:ENSMUST00000098668) - c.325T>A (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs218184413 | 111 | M>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000073.7:g.25175861A>C Codon: ATG/AGG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175861A>C Locations: - p.Met111Arg (Ensembl:ENSMUST00000098668) - c.332T>G (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs47052669 | 112 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000073.7:g.25175859T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175859T>C Locations: - p.Ile112Val (Ensembl:ENSMUST00000098668) - c.334A>G (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs582118194 | 114 | M>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000073.7:g.25175853T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175853T>C Locations: - p.Met114Val (Ensembl:ENSMUST00000098668) - c.340A>G (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs231947614 | 117 | M>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000073.7:g.25175843A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175843A>G Locations: - p.Met117Thr (Ensembl:ENSMUST00000098668) - c.350T>C (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs213561361 | 118 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.25175840C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175840C>T Locations: - p.Gly118Glu (Ensembl:ENSMUST00000098668) - c.353G>A (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs262391671 | 122 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000073.7:g.25175829G>T Codon: CTA/ATA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175829G>T Locations: - p.Leu122Ile (Ensembl:ENSMUST00000098668) - c.364C>A (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs237725497 | 123 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000073.7:g.25175824A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175824A>T Locations: - p.Asp123Glu (Ensembl:ENSMUST00000098668) - c.369T>A (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs3388882114 | 126 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000073.7:g.25175817C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175817C>A Locations: - p.Asp126Tyr (Ensembl:ENSMUST00000098668) - c.376G>T (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs51040763 | 127 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000073.7:g.25175814C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175814C>T Locations: - p.Glu127Lys (Ensembl:ENSMUST00000098668) - c.379G>A (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs51040763 | 127 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: NC_000073.7:g.25175814C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175814C>G Locations: - p.Glu127Gln (Ensembl:ENSMUST00000098668) - c.379G>C (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs217137602 | 129 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.87) Somatic: No Accession: NC_000073.7:g.25175807T>A Codon: TAT/TTT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175807T>A Locations: - p.Tyr129Phe (Ensembl:ENSMUST00000098668) - c.386A>T (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs253856779 | 130 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000073.7:g.25175804C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175804C>T Locations: - p.Arg130His (Ensembl:ENSMUST00000098668) - c.389G>A (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs228969852 | 131 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000073.7:g.25175801C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175801C>T Locations: - p.Arg131His (Ensembl:ENSMUST00000098668) - c.392G>A (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs211738297 | 133 | Q>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000073.7:g.25175796G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175796G>C Locations: - p.Gln133Glu (Ensembl:ENSMUST00000098668) - c.397C>G (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs225019304 | 137 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000073.7:g.25175783C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175783C>T Locations: - p.Arg137Gln (Ensembl:ENSMUST00000098668) - c.410G>A (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs3388889462 | 138 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000073.7:g.25175779A>T Codon: TTT/TTA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175779A>T Locations: - p.Phe138Leu (Ensembl:ENSMUST00000098668) - c.414T>A (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs3388873528 | 142 | Q>* | EVA | ||||
Consequence: missense Somatic: No Accession: NC_000073.7:g.25175769G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25175769G>A Locations: - p.Gln142Ter (Ensembl:ENSMUST00000098668) - c.424C>T (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs3388894370 | 144 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000073.7:g.25171492A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25171492A>T Locations: - p.Val144Glu (Ensembl:ENSMUST00000098668) - c.431T>A (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs3388886070 | 146 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000073.7:g.25171487G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 7q Genomic location: NC_000073.7:g.25171487G>A Locations: - p.Gln146Ter (Ensembl:ENSMUST00000098668) - c.436C>T (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs230972278 | 148 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000073.7:g.25171480A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25171480A>G Locations: - p.Phe148Ser (Ensembl:ENSMUST00000098668) - c.443T>C (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs3388888506 | 149 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.25171478G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25171478G>A Locations: - p.Leu149Phe (Ensembl:ENSMUST00000098668) - c.445C>T (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs3545471585 | 151 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000073.7:g.25171472C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25171472C>T Locations: - p.Val151Ile (Ensembl:ENSMUST00000098668) - c.451G>A (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs245774754 | 178 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.69) Somatic: No Accession: NC_000073.7:g.25171391G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25171391G>A Locations: - p.Leu178Phe (Ensembl:ENSMUST00000098668) - c.532C>T (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs46225137 | 200 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000073.7:g.25171324C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25171324C>T Locations: - p.Arg200Lys (Ensembl:ENSMUST00000098668) - c.599G>A (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs3388886038 | 205 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000073.7:g.25171309T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25171309T>A Locations: - p.Lys205Met (Ensembl:ENSMUST00000098668) - c.614A>T (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs46974309 | 215 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000073.7:g.25171280C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25171280C>G Locations: - p.Glu215Gln (Ensembl:ENSMUST00000098668) - c.643G>C (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs45851103 | 219 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000073.7:g.25171267G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25171267G>A Locations: - p.Pro219Leu (Ensembl:ENSMUST00000098668) - c.656C>T (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs262862951 | 222 | V>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000073.7:g.25171259C>A Codon: GTC/TTC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25171259C>A Locations: - p.Val222Phe (Ensembl:ENSMUST00000098668) - c.664G>T (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs248865658 | 223 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: NC_000073.7:g.25171255C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25171255C>T Locations: - p.Arg223Lys (Ensembl:ENSMUST00000098668) - c.668G>A (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs3388886025 | 230 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.25171234A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25171234A>C Locations: - p.Leu230Arg (Ensembl:ENSMUST00000098668) - c.689T>G (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs3388863111 | 232 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000073.7:g.25171229T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25171229T>C Locations: - p.Ile232Val (Ensembl:ENSMUST00000098668) - c.694A>G (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs3388889889 | 247 | A>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.25165823G>T Codon: GCT/GAT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25165823G>T Locations: - p.Ala247Asp (Ensembl:ENSMUST00000098668) - c.740C>A (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs215449760 | 253 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000073.7:g.25165805A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25165805A>G Locations: - p.Val253Ala (Ensembl:ENSMUST00000098668) - c.758T>C (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs3545402993 | 257 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000073.7:g.25165793A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25165793A>C Locations: - p.Val257Gly (Ensembl:ENSMUST00000098668) - c.770T>G (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs3545383299 | 273 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000073.7:g.25165746C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25165746C>G Locations: - p.Gly273Arg (Ensembl:ENSMUST00000098668) - c.817G>C (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs3545526664 | 274 | G>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000073.7:g.25165743C>A Codon: GGA/TGA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25165743C>A Locations: - p.Gly274Trp (Ensembl:ENSMUST00000098668) - c.820G>T (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs582289528 | 288 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000073.7:g.25164905C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25164905C>T Locations: - p.Ala288Thr (Ensembl:ENSMUST00000098668) - c.862G>A (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs3388868922 | 311 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000073.7:g.25163301G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25163301G>T Locations: - p.Leu311Met (Ensembl:ENSMUST00000098668) - c.931C>A (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs583636765 | 312 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000073.7:g.25163296G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25163296G>T Locations: - p.Asn312Lys (Ensembl:ENSMUST00000098668) - c.936C>A (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: | |||||||
rs587587146 | 320 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.38) Somatic: No Accession: NC_000073.7:g.25163273C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.25163273C>T Locations: - p.Arg320Gln (Ensembl:ENSMUST00000098668) - c.959G>A (Ensembl:ENSMUST00000098668) Source type: large scale study Cross-references: |