Q3V036 · CCD27_MOUSE
- ProteinCoiled-coil domain-containing protein 27
- GeneCcdc27
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids639 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs212886606 | 7 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.36) Somatic: No Accession: NC_000070.7:g.154127042T>G Codon: ACT/CCT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154127042T>G Locations: - p.Thr7Pro (Ensembl:ENSMUST00000047207) - c.19A>C (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs236667222 | 46 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.38) Somatic: No Accession: NC_000070.7:g.154126925G>T Codon: CAA/AAA Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154126925G>T Locations: - p.Gln46Lys (Ensembl:ENSMUST00000047207) - c.136C>A (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs219788696 | 47 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000070.7:g.154126921C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154126921C>T Locations: - p.Ser47Asn (Ensembl:ENSMUST00000047207) - c.140G>A (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs3388728598 | 49 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000070.7:g.154126916T>A Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 4q Genomic location: NC_000070.7:g.154126916T>A Locations: - p.Lys49Ter (Ensembl:ENSMUST00000047207) - c.145A>T (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs33026750 | 58 | Y>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000070.7:g.154126888T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154126888T>C Locations: - p.Tyr58Cys (Ensembl:ENSMUST00000047207) - c.173A>G (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs3388724649 | 62-63 | KE>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000070.7:g.154126874_154126875insAACCATCACTCA Codon: -/TGAGTGATGGTT Consequence type: stop gained Cytogenetic band: 4q Genomic location: NC_000070.7:g.154126874_154126875insAACCATCACTCA Locations: - p.Lys62_Glu63insTer (Ensembl:ENSMUST00000047207) - c.186_187insTGAGTGATGGTT (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs245870801 | 70 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000070.7:g.154126279C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154126279C>T Locations: - p.Ser70Asn (Ensembl:ENSMUST00000047207) - c.209G>A (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs213033085 | 74 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000070.7:g.154126267C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154126267C>T Locations: - p.Gly74Asp (Ensembl:ENSMUST00000047207) - c.221G>A (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs230385768 | 74 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: NC_000070.7:g.154126268C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154126268C>T Locations: - p.Gly74Ser (Ensembl:ENSMUST00000047207) - c.220G>A (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs252650919 | 102 | M>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.68) Somatic: No Accession: NC_000070.7:g.154126184T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154126184T>C Locations: - p.Met102Val (Ensembl:ENSMUST00000047207) - c.304A>G (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs3388720970 | 105 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.63) Somatic: No Accession: NC_000070.7:g.154126175C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154126175C>G Locations: - p.Val105Leu (Ensembl:ENSMUST00000047207) - c.313G>C (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs3388720970 | 105 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_000070.7:g.154126175C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154126175C>T Locations: - p.Val105Met (Ensembl:ENSMUST00000047207) - c.313G>A (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs221400856 | 109 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000070.7:g.154125517A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154125517A>G Locations: - p.Ile109Thr (Ensembl:ENSMUST00000047207) - c.326T>C (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs252290705 | 128 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.51) Somatic: No Accession: NC_000070.7:g.154125460G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154125460G>T Locations: - p.Pro128His (Ensembl:ENSMUST00000047207) - c.383C>A (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs33025519 | 149 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000070.7:g.154124086G>C Codon: GCT/GGT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154124086G>C Locations: - p.Ala149Gly (Ensembl:ENSMUST00000047207) - c.446C>G (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs3388743342 | 150 | C>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000070.7:g.154124084A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154124084A>G Locations: - p.Cys150Arg (Ensembl:ENSMUST00000047207) - c.448T>C (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs221324752 | 164 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.99) Somatic: No Accession: NC_000070.7:g.154124041G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154124041G>A Locations: - p.Pro164Leu (Ensembl:ENSMUST00000047207) - c.491C>T (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs238424984 | 181 | T>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000070.7:g.154123990G>T Codon: ACG/AAG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154123990G>T Locations: - p.Thr181Lys (Ensembl:ENSMUST00000047207) - c.542C>A (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs238424984 | 181 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.98) Somatic: No Accession: NC_000070.7:g.154123990G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154123990G>A Locations: - p.Thr181Met (Ensembl:ENSMUST00000047207) - c.542C>T (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs226242236 | 207 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.31) Somatic: No Accession: NC_000070.7:g.154122258C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154122258C>T Locations: - p.Glu207Lys (Ensembl:ENSMUST00000047207) - c.619G>A (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs3388724682 | 268 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.55) Somatic: No Accession: NC_000070.7:g.154121267T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154121267T>C Locations: - p.Lys268Arg (Ensembl:ENSMUST00000047207) - c.803A>G (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs235409834 | 275 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000070.7:g.154121245A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154121245A>T Locations: - p.Asp275Glu (Ensembl:ENSMUST00000047207) - c.825T>A (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs3388728580 | 287 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.67) Somatic: No Accession: NC_000070.7:g.154120935T>A Codon: TAT/TTT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154120935T>A Locations: - p.Tyr287Phe (Ensembl:ENSMUST00000047207) - c.860A>T (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs3388738732 | 287 | Y>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: NC_000070.7:g.154120936A>T Codon: TAT/AAT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154120936A>T Locations: - p.Tyr287Asn (Ensembl:ENSMUST00000047207) - c.859T>A (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs239507215 | 302 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.44) Somatic: No Accession: NC_000070.7:g.154120890C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154120890C>T Locations: - p.Ser302Asn (Ensembl:ENSMUST00000047207) - c.905G>A (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs3543095003 | 313 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.61) Somatic: No Accession: NC_000070.7:g.154120858G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154120858G>A Locations: - p.Pro313Ser (Ensembl:ENSMUST00000047207) - c.937C>T (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs242251976 | 382 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_000070.7:g.154120650C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154120650C>T Locations: - p.Arg382Lys (Ensembl:ENSMUST00000047207) - c.1145G>A (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs255236543 | 410 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.46) Somatic: No Accession: NC_000070.7:g.154120565T>A Codon: AGA/AGT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154120565T>A Locations: - p.Arg410Ser (Ensembl:ENSMUST00000047207) - c.1230A>T (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs584412289 | 425 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000070.7:g.154120335T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154120335T>C Locations: - p.Thr425Ala (Ensembl:ENSMUST00000047207) - c.1273A>G (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs33027766 | 490 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000070.7:g.154117740C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154117740C>G Locations: - p.Val490Leu (Ensembl:ENSMUST00000047207) - c.1468G>C (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs3388731514 | 495 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000070.7:g.154117463C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154117463C>T Locations: - p.Val495Ile (Ensembl:ENSMUST00000047207) - c.1483G>A (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs3543155903 | 506 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.81) Somatic: No Accession: NC_000070.7:g.154117428C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154117428C>A Locations: - p.Glu506Asp (Ensembl:ENSMUST00000047207) - c.1518G>T (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs3388731509 | 514 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000070.7:g.154117405G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154117405G>T Locations: - p.Thr514Asn (Ensembl:ENSMUST00000047207) - c.1541C>A (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs214622616 | 527 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000070.7:g.154117366T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154117366T>C Locations: - p.Lys527Arg (Ensembl:ENSMUST00000047207) - c.1580A>G (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs256697323 | 535 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000070.7:g.154117343C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154117343C>T Locations: - p.Asp535Asn (Ensembl:ENSMUST00000047207) - c.1603G>A (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs3388731522 | 543 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000070.7:g.154117319G>T Codon: CGT/AGT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154117319G>T Locations: - p.Arg543Ser (Ensembl:ENSMUST00000047207) - c.1627C>A (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs217725244 | 555 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000070.7:g.154117282C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154117282C>T Locations: - p.Arg555His (Ensembl:ENSMUST00000047207) - c.1664G>A (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs221806892 | 580 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000070.7:g.154112535C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154112535C>T Locations: - p.Ser580Asn (Ensembl:ENSMUST00000047207) - c.1739G>A (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs221806892 | 580 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.89) Somatic: No Accession: NC_000070.7:g.154112535C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154112535C>G Locations: - p.Ser580Thr (Ensembl:ENSMUST00000047207) - c.1739G>C (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs248720868 | 587 | M>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000070.7:g.154112514A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154112514A>G Locations: - p.Met587Thr (Ensembl:ENSMUST00000047207) - c.1760T>C (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: | |||||||
rs3388737575 | 600 | R>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000070.7:g.154111312C>A Codon: AGG/ATG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.154111312C>A Locations: - p.Arg600Met (Ensembl:ENSMUST00000047207) - c.1799G>T (Ensembl:ENSMUST00000047207) Source type: large scale study Cross-references: |