Q64435 · UD16_MOUSE
- ProteinUDP-glucuronosyltransferase 1-6
- GeneUgt1a6
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids531 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388484972 | 9 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.56) Somatic: No Accession: NC_000067.7:g.88066222G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88066222G>C Locations: - p.Gln9His (Ensembl:ENSMUST00000113134) - c.27G>C (Ensembl:ENSMUST00000113134) - p.Gln9His (Ensembl:ENSMUST00000014263) - c.27G>C (Ensembl:ENSMUST00000014263) - p.Gln9His (Ensembl:ENSMUST00000113135) - c.27G>C (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3388486698 | 32 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000067.7:g.88066289G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88066289G>C Locations: - p.Val32Leu (Ensembl:ENSMUST00000113134) - c.94G>C (Ensembl:ENSMUST00000113134) - p.Val32Leu (Ensembl:ENSMUST00000014263) - c.94G>C (Ensembl:ENSMUST00000014263) - p.Val32Leu (Ensembl:ENSMUST00000113135) - c.94G>C (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs583202707 | 44 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.61) Somatic: No Accession: NC_000067.7:g.88066327G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88066327G>T Locations: - p.Glu44Asp (Ensembl:ENSMUST00000113134) - c.132G>T (Ensembl:ENSMUST00000113134) - p.Glu44Asp (Ensembl:ENSMUST00000014263) - c.132G>T (Ensembl:ENSMUST00000014263) - p.Glu44Asp (Ensembl:ENSMUST00000113135) - c.132G>T (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3388485645 | 47 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000067.7:g.88066334G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 1q Genomic location: NC_000067.7:g.88066334G>T Locations: - p.Glu47Ter (Ensembl:ENSMUST00000113134) - c.139G>T (Ensembl:ENSMUST00000113134) - p.Glu47Ter (Ensembl:ENSMUST00000014263) - c.139G>T (Ensembl:ENSMUST00000014263) - p.Glu47Ter (Ensembl:ENSMUST00000113135) - c.139G>T (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3388488586 | 56 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88066362T>A Codon: ATT/AAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88066362T>A Locations: - p.Ile56Asn (Ensembl:ENSMUST00000113134) - c.167T>A (Ensembl:ENSMUST00000113134) - p.Ile56Asn (Ensembl:ENSMUST00000014263) - c.167T>A (Ensembl:ENSMUST00000014263) - p.Ile56Asn (Ensembl:ENSMUST00000113135) - c.167T>A (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3388484924 | 66 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000067.7:g.88066391C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88066391C>G Locations: - p.Leu66Val (Ensembl:ENSMUST00000113134) - c.196C>G (Ensembl:ENSMUST00000113134) - p.Leu66Val (Ensembl:ENSMUST00000014263) - c.196C>G (Ensembl:ENSMUST00000014263) - p.Leu66Val (Ensembl:ENSMUST00000113135) - c.196C>G (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3388488480 | 72 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000067.7:g.88066411C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 1q Genomic location: NC_000067.7:g.88066411C>G Locations: - p.Tyr72Ter (Ensembl:ENSMUST00000113134) - c.216C>G (Ensembl:ENSMUST00000113134) - p.Tyr72Ter (Ensembl:ENSMUST00000014263) - c.216C>G (Ensembl:ENSMUST00000014263) - p.Tyr72Ter (Ensembl:ENSMUST00000113135) - c.216C>G (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs587366011 | 81 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000067.7:g.88066436A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88066436A>C Locations: - p.Thr81Pro (Ensembl:ENSMUST00000113134) - c.241A>C (Ensembl:ENSMUST00000113134) - p.Thr81Pro (Ensembl:ENSMUST00000014263) - c.241A>C (Ensembl:ENSMUST00000014263) - p.Thr81Pro (Ensembl:ENSMUST00000113135) - c.241A>C (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3388485676 | 90 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.43) Somatic: No Accession: NC_000067.7:g.88066464G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88066464G>A Locations: - p.Arg90His (Ensembl:ENSMUST00000113134) - c.269G>A (Ensembl:ENSMUST00000113134) - p.Arg90His (Ensembl:ENSMUST00000014263) - c.269G>A (Ensembl:ENSMUST00000014263) - p.Arg90His (Ensembl:ENSMUST00000113135) - c.269G>A (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3388484988 | 98 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000067.7:g.88066488A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88066488A>C Locations: - p.His98Pro (Ensembl:ENSMUST00000113134) - c.293A>C (Ensembl:ENSMUST00000113134) - p.His98Pro (Ensembl:ENSMUST00000014263) - c.293A>C (Ensembl:ENSMUST00000014263) - p.His98Pro (Ensembl:ENSMUST00000113135) - c.293A>C (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs49344081 | 102 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.69) Somatic: No Accession: NC_000067.7:g.88066499G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88066499G>A Locations: - p.Gly102Ser (Ensembl:ENSMUST00000113134) - c.304G>A (Ensembl:ENSMUST00000113134) - p.Gly102Ser (Ensembl:ENSMUST00000014263) - c.304G>A (Ensembl:ENSMUST00000014263) - p.Gly102Ser (Ensembl:ENSMUST00000113135) - c.304G>A (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs49929593 | 104 | S>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000067.7:g.88066505T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88066505T>G Locations: - p.Ser104Ala (Ensembl:ENSMUST00000113134) - c.310T>G (Ensembl:ENSMUST00000113134) - p.Ser104Ala (Ensembl:ENSMUST00000014263) - c.310T>G (Ensembl:ENSMUST00000014263) - p.Ser104Ala (Ensembl:ENSMUST00000113135) - c.310T>G (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs50094880 | 106 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.3) Somatic: No Accession: NC_000067.7:g.88066513G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88066513G>T Locations: - p.Met106Ile (Ensembl:ENSMUST00000113134) - c.318G>T (Ensembl:ENSMUST00000113134) - p.Met106Ile (Ensembl:ENSMUST00000014263) - c.318G>T (Ensembl:ENSMUST00000014263) - p.Met106Ile (Ensembl:ENSMUST00000113135) - c.318G>T (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs46750829 | 122 | F>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000067.7:g.88066560T>G Codon: TTC/TGC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88066560T>G Locations: - p.Phe122Cys (Ensembl:ENSMUST00000113134) - c.365T>G (Ensembl:ENSMUST00000113134) - p.Phe122Cys (Ensembl:ENSMUST00000014263) - c.365T>G (Ensembl:ENSMUST00000014263) - p.Phe122Cys (Ensembl:ENSMUST00000113135) - c.365T>G (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3388485817 | 123 | F>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000067.7:g.88066563T>G Codon: TTT/TGT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88066563T>G Locations: - p.Phe123Cys (Ensembl:ENSMUST00000113134) - c.368T>G (Ensembl:ENSMUST00000113134) - p.Phe123Cys (Ensembl:ENSMUST00000014263) - c.368T>G (Ensembl:ENSMUST00000014263) - p.Phe123Cys (Ensembl:ENSMUST00000113135) - c.368T>G (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs47225230 | 124 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000067.7:g.88066566C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88066566C>T Locations: - p.Ser124Phe (Ensembl:ENSMUST00000113134) - c.371C>T (Ensembl:ENSMUST00000113134) - p.Ser124Phe (Ensembl:ENSMUST00000014263) - c.371C>T (Ensembl:ENSMUST00000014263) - p.Ser124Phe (Ensembl:ENSMUST00000113135) - c.371C>T (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs51266348 | 125 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000067.7:g.88066569A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88066569A>G Locations: - p.Asn125Ser (Ensembl:ENSMUST00000113134) - c.374A>G (Ensembl:ENSMUST00000113134) - p.Asn125Ser (Ensembl:ENSMUST00000014263) - c.374A>G (Ensembl:ENSMUST00000014263) - p.Asn125Ser (Ensembl:ENSMUST00000113135) - c.374A>G (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3388485103 | 137 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.22) Somatic: No Accession: NC_000067.7:g.88066605G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88066605G>A Locations: - p.Ser137Asn (Ensembl:ENSMUST00000113134) - c.410G>A (Ensembl:ENSMUST00000113134) - p.Ser137Asn (Ensembl:ENSMUST00000014263) - c.410G>A (Ensembl:ENSMUST00000014263) - p.Ser137Asn (Ensembl:ENSMUST00000113135) - c.410G>A (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs584056154 | 142 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000067.7:g.88066620A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88066620A>G Locations: - p.Asn142Ser (Ensembl:ENSMUST00000113134) - c.425A>G (Ensembl:ENSMUST00000113134) - p.Asn142Ser (Ensembl:ENSMUST00000014263) - c.425A>G (Ensembl:ENSMUST00000014263) - p.Asn142Ser (Ensembl:ENSMUST00000113135) - c.425A>G (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3388488498 | 152 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000067.7:g.88066650C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88066650C>G Locations: - p.Ala152Gly (Ensembl:ENSMUST00000113134) - c.455C>G (Ensembl:ENSMUST00000113134) - p.Ala152Gly (Ensembl:ENSMUST00000014263) - c.455C>G (Ensembl:ENSMUST00000014263) - p.Ala152Gly (Ensembl:ENSMUST00000113135) - c.455C>G (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3539454115 | 181 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000067.7:g.88066738G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88066738G>T Locations: - p.Met181Ile (Ensembl:ENSMUST00000113134) - c.543G>T (Ensembl:ENSMUST00000113134) - p.Met181Ile (Ensembl:ENSMUST00000014263) - c.543G>T (Ensembl:ENSMUST00000014263) - p.Met181Ile (Ensembl:ENSMUST00000113135) - c.543G>T (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3388486495 | 197 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.59) Somatic: No Accession: NC_000067.7:g.88066784A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88066784A>T Locations: - p.Thr197Ser (Ensembl:ENSMUST00000113134) - c.589A>T (Ensembl:ENSMUST00000113134) - p.Thr197Ser (Ensembl:ENSMUST00000014263) - c.589A>T (Ensembl:ENSMUST00000014263) - p.Thr197Ser (Ensembl:ENSMUST00000113135) - c.589A>T (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3539460912 | 210 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000067.7:g.88066823G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88066823G>A Locations: - p.Ala210Thr (Ensembl:ENSMUST00000113134) - c.628G>A (Ensembl:ENSMUST00000113134) - p.Ala210Thr (Ensembl:ENSMUST00000014263) - c.628G>A (Ensembl:ENSMUST00000014263) - p.Ala210Thr (Ensembl:ENSMUST00000113135) - c.628G>A (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3388485419 | 214 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000067.7:g.88066836T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88066836T>C Locations: - p.Val214Ala (Ensembl:ENSMUST00000113134) - c.641T>C (Ensembl:ENSMUST00000113134) - p.Val214Ala (Ensembl:ENSMUST00000014263) - c.641T>C (Ensembl:ENSMUST00000014263) - p.Val214Ala (Ensembl:ENSMUST00000113135) - c.641T>C (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3388486868 | 235 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88066898G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88066898G>T Locations: - p.Asp235Tyr (Ensembl:ENSMUST00000113134) - c.703G>T (Ensembl:ENSMUST00000113134) - p.Asp235Tyr (Ensembl:ENSMUST00000014263) - c.703G>T (Ensembl:ENSMUST00000014263) - p.Asp235Tyr (Ensembl:ENSMUST00000113135) - c.703G>T (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs47261329 | 273 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000067.7:g.88067012C>A Codon: CTA/ATA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88067012C>A Locations: - p.Leu273Ile (Ensembl:ENSMUST00000113134) - c.817C>A (Ensembl:ENSMUST00000113134) - p.Leu273Ile (Ensembl:ENSMUST00000014263) - c.817C>A (Ensembl:ENSMUST00000014263) - p.Leu273Ile (Ensembl:ENSMUST00000113135) - c.817C>A (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3388485785 | 290 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88142776C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88142776C>T Locations: - p.Ala290Val (Ensembl:ENSMUST00000113134) - c.869C>T (Ensembl:ENSMUST00000113134) - p.Ala290Val (Ensembl:ENSMUST00000014263) - c.869C>T (Ensembl:ENSMUST00000014263) - p.Ala290Val (Ensembl:ENSMUST00000113135) - c.869C>T (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3539454443 | 297 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000067.7:g.88142796G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88142796G>A Locations: - p.Glu297Lys (Ensembl:ENSMUST00000113134) - c.889G>A (Ensembl:ENSMUST00000113134) - p.Glu297Lys (Ensembl:ENSMUST00000014263) - c.889G>A (Ensembl:ENSMUST00000014263) - p.Glu297Lys (Ensembl:ENSMUST00000113135) - c.889G>A (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3388486862 | 313 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88142845C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88142845C>T Locations: - p.Pro313Leu (Ensembl:ENSMUST00000113134) - c.938C>T (Ensembl:ENSMUST00000113134) - p.Pro313Leu (Ensembl:ENSMUST00000014263) - c.938C>T (Ensembl:ENSMUST00000014263) - p.Pro313Leu (Ensembl:ENSMUST00000113135) - c.938C>T (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3388486862 | 313 | P>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88142845C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88142845C>A Locations: - p.Pro313Gln (Ensembl:ENSMUST00000113134) - c.938C>A (Ensembl:ENSMUST00000113134) - p.Pro313Gln (Ensembl:ENSMUST00000014263) - c.938C>A (Ensembl:ENSMUST00000014263) - p.Pro313Gln (Ensembl:ENSMUST00000113135) - c.938C>A (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3539457645 | 313 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88142844C>A Codon: CCG/ACG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88142844C>A Locations: - p.Pro313Thr (Ensembl:ENSMUST00000113134) - c.937C>A (Ensembl:ENSMUST00000113134) - p.Pro313Thr (Ensembl:ENSMUST00000014263) - c.937C>A (Ensembl:ENSMUST00000014263) - p.Pro313Thr (Ensembl:ENSMUST00000113135) - c.937C>A (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3539455042 | 326 | R>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.89) Somatic: No Accession: NC_000067.7:g.88142884G>C Codon: AGA/ACA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88142884G>C Locations: - p.Arg326Thr (Ensembl:ENSMUST00000113134) - c.977G>C (Ensembl:ENSMUST00000113134) - p.Arg326Thr (Ensembl:ENSMUST00000014263) - c.977G>C (Ensembl:ENSMUST00000014263) - p.Arg326Thr (Ensembl:ENSMUST00000113135) - c.977G>C (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs47208592 | 330 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000067.7:g.88142896C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88142896C>T Locations: - p.Thr330Met (Ensembl:ENSMUST00000113134) - c.989C>T (Ensembl:ENSMUST00000113134) - p.Thr330Met (Ensembl:ENSMUST00000014263) - c.989C>T (Ensembl:ENSMUST00000014263) - p.Thr330Met (Ensembl:ENSMUST00000113135) - c.989C>T (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3539457654 | 331 | V>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88143517G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88143517G>T Locations: - p.Val331Phe (Ensembl:ENSMUST00000113134) - c.991G>T (Ensembl:ENSMUST00000113134) - p.Val331Phe (Ensembl:ENSMUST00000014263) - c.991G>T (Ensembl:ENSMUST00000014263) - p.Val331Phe (Ensembl:ENSMUST00000113135) - c.991G>T (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs1133694053 | 341 | S>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000067.7:g.88143548C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88143548C>T Locations: - p.Ser341Leu (Ensembl:ENSMUST00000113134) - c.1022C>T (Ensembl:ENSMUST00000113134) - p.Ser341Leu (Ensembl:ENSMUST00000014263) - c.1022C>T (Ensembl:ENSMUST00000014263) - p.Ser341Leu (Ensembl:ENSMUST00000113135) - c.1022C>T (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3539459893 | 349 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88143571C>A Codon: CTT/ATT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88143571C>A Locations: - p.Leu349Ile (Ensembl:ENSMUST00000113134) - c.1045C>A (Ensembl:ENSMUST00000113134) - p.Leu349Ile (Ensembl:ENSMUST00000014263) - c.1045C>A (Ensembl:ENSMUST00000014263) - p.Leu349Ile (Ensembl:ENSMUST00000113135) - c.1045C>A (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3388484765 | 352 | W>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88143580T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88143580T>C Locations: - p.Trp352Arg (Ensembl:ENSMUST00000113134) - c.1054T>C (Ensembl:ENSMUST00000113134) - p.Trp352Arg (Ensembl:ENSMUST00000014263) - c.1054T>C (Ensembl:ENSMUST00000014263) - p.Trp352Arg (Ensembl:ENSMUST00000113135) - c.1054T>C (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3539454069 | 354 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88143587C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88143587C>T Locations: - p.Pro354Leu (Ensembl:ENSMUST00000113134) - c.1061C>T (Ensembl:ENSMUST00000113134) - p.Pro354Leu (Ensembl:ENSMUST00000014263) - c.1061C>T (Ensembl:ENSMUST00000014263) - p.Pro354Leu (Ensembl:ENSMUST00000113135) - c.1061C>T (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3388486417 | 361 | H>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88143862C>A Codon: CAT/AAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88143862C>A Locations: - p.His361Asn (Ensembl:ENSMUST00000113134) - c.1081C>A (Ensembl:ENSMUST00000113134) - p.His361Asn (Ensembl:ENSMUST00000014263) - c.1081C>A (Ensembl:ENSMUST00000014263) - p.His361Asn (Ensembl:ENSMUST00000113135) - c.1081C>A (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs48157063 | 369 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88143887C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88143887C>T Locations: - p.Thr369Ile (Ensembl:ENSMUST00000113134) - c.1106C>T (Ensembl:ENSMUST00000113134) - p.Thr369Ile (Ensembl:ENSMUST00000014263) - c.1106C>T (Ensembl:ENSMUST00000014263) - p.Thr369Ile (Ensembl:ENSMUST00000113135) - c.1106C>T (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs46352019 | 374 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88143901C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88143901C>T Locations: - p.His374Tyr (Ensembl:ENSMUST00000113134) - c.1120C>T (Ensembl:ENSMUST00000113134) - p.His374Tyr (Ensembl:ENSMUST00000014263) - c.1120C>T (Ensembl:ENSMUST00000014263) - p.His374Tyr (Ensembl:ENSMUST00000113135) - c.1120C>T (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs49604602 | 385 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88143935C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88143935C>T Locations: - p.Pro385Leu (Ensembl:ENSMUST00000113134) - c.1154C>T (Ensembl:ENSMUST00000113134) - p.Pro385Leu (Ensembl:ENSMUST00000014263) - c.1154C>T (Ensembl:ENSMUST00000014263) - p.Pro385Leu (Ensembl:ENSMUST00000113135) - c.1154C>T (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs48308731 | 399 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88143976G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88143976G>A Locations: - p.Ala399Thr (Ensembl:ENSMUST00000113134) - c.1195G>A (Ensembl:ENSMUST00000113134) - p.Ala399Thr (Ensembl:ENSMUST00000014263) - c.1195G>A (Ensembl:ENSMUST00000014263) - p.Ala399Thr (Ensembl:ENSMUST00000113135) - c.1195G>A (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3388485503 | 401 | R>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88143982C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88143982C>T Locations: - p.Arg401Cys (Ensembl:ENSMUST00000113134) - c.1201C>T (Ensembl:ENSMUST00000113134) - p.Arg401Cys (Ensembl:ENSMUST00000014263) - c.1201C>T (Ensembl:ENSMUST00000014263) - p.Arg401Cys (Ensembl:ENSMUST00000113135) - c.1201C>T (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs49274850 | 401 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000067.7:g.88143983G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88143983G>A Locations: - p.Arg401His (Ensembl:ENSMUST00000113134) - c.1202G>A (Ensembl:ENSMUST00000113134) - p.Arg401His (Ensembl:ENSMUST00000014263) - c.1202G>A (Ensembl:ENSMUST00000014263) - p.Arg401His (Ensembl:ENSMUST00000113135) - c.1202G>A (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3412994250 | 405 | R>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88143995G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88143995G>C Locations: - p.Arg405Pro (Ensembl:ENSMUST00000113134) - c.1214G>C (Ensembl:ENSMUST00000113134) - p.Arg405Pro (Ensembl:ENSMUST00000014263) - c.1214G>C (Ensembl:ENSMUST00000014263) - p.Arg405Pro (Ensembl:ENSMUST00000113135) - c.1214G>C (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3412994250 | 405 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88143995G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88143995G>A Locations: - p.Arg405Gln (Ensembl:ENSMUST00000113134) - c.1214G>A (Ensembl:ENSMUST00000113134) - p.Arg405Gln (Ensembl:ENSMUST00000014263) - c.1214G>A (Ensembl:ENSMUST00000014263) - p.Arg405Gln (Ensembl:ENSMUST00000113135) - c.1214G>A (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3539461379 | 424 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88144051G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88144051G>T Locations: - p.Ala424Ser (Ensembl:ENSMUST00000113134) - c.1270G>T (Ensembl:ENSMUST00000113134) - p.Ala424Ser (Ensembl:ENSMUST00000014263) - c.1270G>T (Ensembl:ENSMUST00000014263) - p.Ala424Ser (Ensembl:ENSMUST00000113135) - c.1270G>T (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3388484939 | 435 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88145853A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88145853A>G Locations: - p.Lys435Glu (Ensembl:ENSMUST00000113134) - c.1303A>G (Ensembl:ENSMUST00000113134) - p.Lys435Glu (Ensembl:ENSMUST00000014263) - c.1303A>G (Ensembl:ENSMUST00000014263) - p.Lys435Glu (Ensembl:ENSMUST00000113135) - c.1303A>G (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs47490282 | 440 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88145868C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88145868C>A Locations: - p.Arg440Ser (Ensembl:ENSMUST00000113134) - c.1318C>A (Ensembl:ENSMUST00000113134) - p.Arg440Ser (Ensembl:ENSMUST00000014263) - c.1318C>A (Ensembl:ENSMUST00000014263) - p.Arg440Ser (Ensembl:ENSMUST00000113135) - c.1318C>A (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3388484946 | 465 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88145943A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88145943A>G Locations: - p.Arg465Gly (Ensembl:ENSMUST00000113134) - c.1393A>G (Ensembl:ENSMUST00000113134) - p.Arg465Gly (Ensembl:ENSMUST00000014263) - c.1393A>G (Ensembl:ENSMUST00000014263) - p.Arg465Gly (Ensembl:ENSMUST00000113135) - c.1393A>G (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3388485634 | 467 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88145951G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88145951G>T Locations: - p.Lys467Asn (Ensembl:ENSMUST00000113134) - c.1401G>T (Ensembl:ENSMUST00000113134) - p.Lys467Asn (Ensembl:ENSMUST00000014263) - c.1401G>T (Ensembl:ENSMUST00000014263) - p.Lys467Asn (Ensembl:ENSMUST00000113135) - c.1401G>T (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs49647345 | 471 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88145962A>T Codon: CAC/CTC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88145962A>T Locations: - p.His471Leu (Ensembl:ENSMUST00000113134) - c.1412A>T (Ensembl:ENSMUST00000113134) - p.His471Leu (Ensembl:ENSMUST00000014263) - c.1412A>T (Ensembl:ENSMUST00000014263) - p.His471Leu (Ensembl:ENSMUST00000113135) - c.1412A>T (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs50150817 | 473 | R>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88145967C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88145967C>T Locations: - p.Arg473Cys (Ensembl:ENSMUST00000113134) - c.1417C>T (Ensembl:ENSMUST00000113134) - p.Arg473Cys (Ensembl:ENSMUST00000014263) - c.1417C>T (Ensembl:ENSMUST00000014263) - p.Arg473Cys (Ensembl:ENSMUST00000113135) - c.1417C>T (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs49527860 | 474 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88145971C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88145971C>T Locations: - p.Pro474Leu (Ensembl:ENSMUST00000113134) - c.1421C>T (Ensembl:ENSMUST00000113134) - p.Pro474Leu (Ensembl:ENSMUST00000014263) - c.1421C>T (Ensembl:ENSMUST00000014263) - p.Pro474Leu (Ensembl:ENSMUST00000113135) - c.1421C>T (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs49572031 | 476 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88145976G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88145976G>A Locations: - p.Ala476Thr (Ensembl:ENSMUST00000113134) - c.1426G>A (Ensembl:ENSMUST00000113134) - p.Ala476Thr (Ensembl:ENSMUST00000014263) - c.1426G>A (Ensembl:ENSMUST00000014263) - p.Ala476Thr (Ensembl:ENSMUST00000113135) - c.1426G>A (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3539468856 | 478 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000067.7:g.88145982G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88145982G>A Locations: - p.Asp478Asn (Ensembl:ENSMUST00000113134) - c.1432G>A (Ensembl:ENSMUST00000113134) - p.Asp478Asn (Ensembl:ENSMUST00000014263) - c.1432G>A (Ensembl:ENSMUST00000014263) - p.Asp478Asn (Ensembl:ENSMUST00000113135) - c.1432G>A (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3539455393 | 483 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88145999G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88145999G>C Locations: - p.Gln483His (Ensembl:ENSMUST00000113134) - c.1449G>C (Ensembl:ENSMUST00000113134) - p.Gln483His (Ensembl:ENSMUST00000014263) - c.1449G>C (Ensembl:ENSMUST00000014263) - p.Gln483His (Ensembl:ENSMUST00000113135) - c.1449G>C (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs46635214 | 484 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88146001A>T Codon: TAC/TTC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88146001A>T Locations: - p.Tyr484Phe (Ensembl:ENSMUST00000113134) - c.1451A>T (Ensembl:ENSMUST00000113134) - p.Tyr484Phe (Ensembl:ENSMUST00000014263) - c.1451A>T (Ensembl:ENSMUST00000014263) - p.Tyr484Phe (Ensembl:ENSMUST00000113135) - c.1451A>T (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs47264151 | 485 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88146005C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88146005C>G Locations: - p.His485Gln (Ensembl:ENSMUST00000113134) - c.1455C>G (Ensembl:ENSMUST00000113134) - p.His485Gln (Ensembl:ENSMUST00000014263) - c.1455C>G (Ensembl:ENSMUST00000014263) - p.His485Gln (Ensembl:ENSMUST00000113135) - c.1455C>G (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3539452646 | 492 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000067.7:g.88146025T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88146025T>C Locations: - p.Phe492Ser (Ensembl:ENSMUST00000113134) - c.1475T>C (Ensembl:ENSMUST00000113134) - p.Phe492Ser (Ensembl:ENSMUST00000014263) - c.1475T>C (Ensembl:ENSMUST00000014263) - p.Phe492Ser (Ensembl:ENSMUST00000113135) - c.1475T>C (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3539454537 | 504 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.4) Somatic: No Accession: NC_000067.7:g.88146060G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88146060G>A Locations: - p.Val504Ile (Ensembl:ENSMUST00000113134) - c.1510G>A (Ensembl:ENSMUST00000113134) - p.Val504Ile (Ensembl:ENSMUST00000014263) - c.1510G>A (Ensembl:ENSMUST00000014263) - p.Val504Ile (Ensembl:ENSMUST00000113135) - c.1510G>A (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3388486245 | 505 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000067.7:g.88146063T>A Codon: TTT/ATT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88146063T>A Locations: - p.Phe505Ile (Ensembl:ENSMUST00000113134) - c.1513T>A (Ensembl:ENSMUST00000113134) - p.Phe505Ile (Ensembl:ENSMUST00000014263) - c.1513T>A (Ensembl:ENSMUST00000014263) - p.Phe505Ile (Ensembl:ENSMUST00000113135) - c.1513T>A (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs46776285 | 511 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000067.7:g.88146082G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88146082G>A Locations: - p.Gly511Asp (Ensembl:ENSMUST00000113134) - c.1532G>A (Ensembl:ENSMUST00000113134) - p.Gly511Asp (Ensembl:ENSMUST00000014263) - c.1532G>A (Ensembl:ENSMUST00000014263) - p.Gly511Asp (Ensembl:ENSMUST00000113135) - c.1532G>A (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs50202345 | 521 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000067.7:g.88146112G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88146112G>A Locations: - p.Arg521Gln (Ensembl:ENSMUST00000113134) - c.1562G>A (Ensembl:ENSMUST00000113134) - p.Arg521Gln (Ensembl:ENSMUST00000014263) - c.1562G>A (Ensembl:ENSMUST00000014263) - p.Arg521Gln (Ensembl:ENSMUST00000113135) - c.1562G>A (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3539454471 | 526 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000067.7:g.88146127A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.88146127A>C Locations: - p.His526Pro (Ensembl:ENSMUST00000113134) - c.1577A>C (Ensembl:ENSMUST00000113134) - p.His526Pro (Ensembl:ENSMUST00000014263) - c.1577A>C (Ensembl:ENSMUST00000014263) - p.His526Pro (Ensembl:ENSMUST00000113135) - c.1577A>C (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: | |||||||
rs3388486423 | 532 | *>L | EVA | ||||
Consequence: stop lost Somatic: No Accession: NC_000067.7:g.88146145G>T Codon: TGA/TTA Consequence type: stop lost Cytogenetic band: 1q Genomic location: NC_000067.7:g.88146145G>T Locations: - p.Ter532LeuextTer17 (Ensembl:ENSMUST00000113134) - c.1595G>T (Ensembl:ENSMUST00000113134) - p.Ter532LeuextTer17 (Ensembl:ENSMUST00000014263) - c.1595G>T (Ensembl:ENSMUST00000014263) - p.Ter532LeuextTer17 (Ensembl:ENSMUST00000113135) - c.1595G>T (Ensembl:ENSMUST00000113135) Source type: large scale study Cross-references: |