Q9D4K5 · CMI2A_MOUSE
- ProteinCiliary microtubule inner protein 2A
- GeneCimip2a
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids319 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388534360 | 3 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000068.8:g.25108820C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.25108820C>T Locations: - p.Ala3Val (Ensembl:ENSMUST00000028346) - c.8C>T (Ensembl:ENSMUST00000028346) Source type: large scale study Cross-references: | |||||||
rs3388529566 | 31 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.25110180G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.25110180G>A Locations: - p.Val31Met (Ensembl:ENSMUST00000028346) - c.91G>A (Ensembl:ENSMUST00000028346) Source type: large scale study Cross-references: | |||||||
rs222274772 | 59 | M>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000068.8:g.25110264A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.25110264A>G Locations: - p.Met59Val (Ensembl:ENSMUST00000028346) - c.175A>G (Ensembl:ENSMUST00000028346) Source type: large scale study Cross-references: | |||||||
rs3388535376 | 96 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000068.8:g.25110480A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.25110480A>T Locations: - p.Lys96Met (Ensembl:ENSMUST00000028346) - c.287A>T (Ensembl:ENSMUST00000028346) Source type: large scale study Cross-references: | |||||||
rs3388535387 | 108 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.25110517T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.25110517T>A Locations: - p.Asp108Glu (Ensembl:ENSMUST00000028346) - c.324T>A (Ensembl:ENSMUST00000028346) Source type: large scale study Cross-references: | |||||||
rs235530576 | 110 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: NC_000068.8:g.25110521G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.25110521G>A Locations: - p.Asp110Asn (Ensembl:ENSMUST00000028346) - c.328G>A (Ensembl:ENSMUST00000028346) Source type: large scale study Cross-references: | |||||||
rs3388534378 | 137 | C>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.25110604C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.25110604C>A Locations: - p.Cys137Ter (Ensembl:ENSMUST00000028346) - c.411C>A (Ensembl:ENSMUST00000028346) Source type: large scale study Cross-references: | |||||||
rs248409047 | 143 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000068.8:g.25110621G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.25110621G>A Locations: - p.Gly143Glu (Ensembl:ENSMUST00000028346) - c.428G>A (Ensembl:ENSMUST00000028346) Source type: large scale study Cross-references: | |||||||
rs222006657 | 147 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.64) Somatic: No Accession: NC_000068.8:g.25110634C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.25110634C>G Locations: - p.Asp147Glu (Ensembl:ENSMUST00000028346) - c.441C>G (Ensembl:ENSMUST00000028346) Source type: large scale study Cross-references: | |||||||
rs3388532620 | 155 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000068.8:g.25110656C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.25110656C>A Locations: - p.Leu155Met (Ensembl:ENSMUST00000028346) - c.463C>A (Ensembl:ENSMUST00000028346) Source type: large scale study Cross-references: | |||||||
rs3388531825 | 178 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000068.8:g.25110814C>A Codon: CTA/ATA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.25110814C>A Locations: - p.Leu178Ile (Ensembl:ENSMUST00000028346) - c.532C>A (Ensembl:ENSMUST00000028346) Source type: large scale study Cross-references: | |||||||
rs3388529527 | 179 | Y>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000068.8:g.25110817T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.25110817T>A Locations: - p.Tyr179Asn (Ensembl:ENSMUST00000028346) - c.535T>A (Ensembl:ENSMUST00000028346) Source type: large scale study Cross-references: | |||||||
rs241333670 | 183 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000068.8:g.25110830G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.25110830G>A Locations: - p.Arg183Lys (Ensembl:ENSMUST00000028346) - c.548G>A (Ensembl:ENSMUST00000028346) Source type: large scale study Cross-references: | |||||||
rs3388533728 | 190 | H>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: NC_000068.8:g.25110851A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.25110851A>G Locations: - p.His190Arg (Ensembl:ENSMUST00000028346) - c.569A>G (Ensembl:ENSMUST00000028346) Source type: large scale study Cross-references: | |||||||
rs3388535549 | 204 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000068.8:g.25110893T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.25110893T>C Locations: - p.Leu204Pro (Ensembl:ENSMUST00000028346) - c.611T>C (Ensembl:ENSMUST00000028346) Source type: large scale study Cross-references: | |||||||
rs3388535553 | 207 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.25110901C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.25110901C>G Locations: - p.Leu207Val (Ensembl:ENSMUST00000028346) - c.619C>G (Ensembl:ENSMUST00000028346) Source type: large scale study Cross-references: | |||||||
rs3388535546 | 220 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.25111331G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.25111331G>A Locations: - p.Gly220Asp (Ensembl:ENSMUST00000028346) - c.659G>A (Ensembl:ENSMUST00000028346) Source type: large scale study Cross-references: | |||||||
rs3388532965 | 221 | Y>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.25111334A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.25111334A>G Locations: - p.Tyr221Cys (Ensembl:ENSMUST00000028346) - c.662A>G (Ensembl:ENSMUST00000028346) Source type: large scale study Cross-references: | |||||||
rs3388531785 | 245 | D>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000068.8:g.25111405G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.25111405G>C Locations: - p.Asp245His (Ensembl:ENSMUST00000028346) - c.733G>C (Ensembl:ENSMUST00000028346) Source type: large scale study Cross-references: | |||||||
rs3388535499 | 256 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000068.8:g.25111688C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.25111688C>T Locations: - p.His256Tyr (Ensembl:ENSMUST00000028346) - c.766C>T (Ensembl:ENSMUST00000028346) Source type: large scale study Cross-references: | |||||||
rs3388529502 | 258 | V>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000068.8:g.25111695T>A Codon: GTC/GAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.25111695T>A Locations: - p.Val258Asp (Ensembl:ENSMUST00000028346) - c.773T>A (Ensembl:ENSMUST00000028346) Source type: large scale study Cross-references: | |||||||
rs3388534009 | 270 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.25111731G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.25111731G>A Locations: - p.Trp270Ter (Ensembl:ENSMUST00000028346) - c.809G>A (Ensembl:ENSMUST00000028346) Source type: large scale study Cross-references: | |||||||
rs864300915 | 318 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000068.8:g.25112175A>T Codon: ACA/TCA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.25112175A>T Locations: - p.Thr318Ser (Ensembl:ENSMUST00000028346) - c.952A>T (Ensembl:ENSMUST00000028346) Source type: large scale study Cross-references: |