P04071 · K1B16_MOUSE
- ProteinKallikrein 1-related peptidase b16
- GeneKlk1b16
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids261 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score4/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs218130390 | 14 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_000073.7:g.43786782G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43786782G>A Locations: - p.Gly14Arg (Ensembl:ENSMUST00000005933) - c.40G>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3545619938 | 30 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000073.7:g.43788858A>C Codon: AAA/AAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43788858A>C Locations: - p.Lys30Asn (Ensembl:ENSMUST00000005933) - c.90A>C (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3388885457 | 32 | E>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000073.7:g.43788863A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43788863A>C Locations: - p.Glu32Ala (Ensembl:ENSMUST00000005933) - c.95A>C (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3545791007 | 45 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000073.7:g.43788903C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43788903C>A Locations: - p.His45Gln (Ensembl:ENSMUST00000005933) - c.135C>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3388878461 | 48 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.79) Somatic: No Accession: NC_000073.7:g.43788910C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43788910C>T Locations: - p.His48Tyr (Ensembl:ENSMUST00000005933) - c.142C>T (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3388905804 | 63 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.43788956C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43788956C>T Locations: - p.Ala63Val (Ensembl:ENSMUST00000005933) - c.188C>T (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs240678288 | 71 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000073.7:g.43789943G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43789943G>A Locations: - p.Cys71Tyr (Ensembl:ENSMUST00000005933) - c.212G>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs32398535 | 76 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.43789958G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43789958G>C Locations: - p.Gly76Ala (Ensembl:ENSMUST00000005933) - c.227G>C (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs37530560 | 79 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000073.7:g.43789966C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43789966C>A Locations: - p.Gln79Lys (Ensembl:ENSMUST00000005933) - c.235C>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3388878490 | 80 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000073.7:g.43789971A>T Codon: TTA/TTT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43789971A>T Locations: - p.Leu80Phe (Ensembl:ENSMUST00000005933) - c.240A>T (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3388899227 | 93 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.43790008A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790008A>T Locations: - p.Ser93Cys (Ensembl:ENSMUST00000005933) - c.277A>T (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3388902023 | 101 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.51) Somatic: No Accession: NC_000073.7:g.43790033T>A Codon: TTC/TAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790033T>A Locations: - p.Phe101Tyr (Ensembl:ENSMUST00000005933) - c.302T>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs32525237 | 104 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000073.7:g.43790042C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790042C>G Locations: - p.Thr104Ser (Ensembl:ENSMUST00000005933) - c.311C>G (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs36439149 | 108 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000073.7:g.43790053T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790053T>C Locations: - p.Phe108Leu (Ensembl:ENSMUST00000005933) - c.322T>C (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3545642210 | 109 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_000073.7:g.43790056G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790056G>A Locations: - p.Glu109Lys (Ensembl:ENSMUST00000005933) - c.325G>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs218480676 | 110 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.43) Somatic: No Accession: NC_000073.7:g.43790059A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790059A>G Locations: - p.Lys110Glu (Ensembl:ENSMUST00000005933) - c.328A>G (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs240043978 | 111 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.44) Somatic: No Accession: NC_000073.7:g.43790062T>A Codon: TTA/ATA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790062T>A Locations: - p.Leu111Ile (Ensembl:ENSMUST00000005933) - c.331T>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs37863430 | 114 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.4) Somatic: No Accession: NC_000073.7:g.43790072G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790072G>A Locations: - p.Gly114Glu (Ensembl:ENSMUST00000005933) - c.341G>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3545639973 | 115 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000073.7:g.43790074G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790074G>A Locations: - p.Ala115Thr (Ensembl:ENSMUST00000005933) - c.343G>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs225177883 | 115 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000073.7:g.43790075C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790075C>T Locations: - p.Ala115Val (Ensembl:ENSMUST00000005933) - c.344C>T (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs264497074 | 117 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000073.7:g.43790082C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790082C>A Locations: - p.Phe117Leu (Ensembl:ENSMUST00000005933) - c.351C>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3507867609 | 125 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000073.7:g.43790105G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790105G>A Locations: - p.Arg125His (Ensembl:ENSMUST00000005933) - c.374G>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3545703815 | 131 | D>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000073.7:g.43790122G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790122G>C Locations: - p.Asp131His (Ensembl:ENSMUST00000005933) - c.391G>C (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3545609283 | 138 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.43790144C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790144C>A Locations: - p.Pro138His (Ensembl:ENSMUST00000005933) - c.413C>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3545703943 | 146 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000073.7:g.43790167C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790167C>T Locations: - p.Pro146Ser (Ensembl:ENSMUST00000005933) - c.436C>T (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs254641075 | 161 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.78) Somatic: No Accession: NC_000073.7:g.43790212A>T Codon: ACA/TCA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790212A>T Locations: - p.Thr161Ser (Ensembl:ENSMUST00000005933) - c.481A>T (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs47565823 | 163 | T>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.86) Somatic: No Accession: NC_000073.7:g.43790219C>A Codon: ACA/AAA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790219C>A Locations: - p.Thr163Lys (Ensembl:ENSMUST00000005933) - c.488C>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3545609270 | 164 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.47) Somatic: No Accession: NC_000073.7:g.43790221A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790221A>G Locations: - p.Lys164Glu (Ensembl:ENSMUST00000005933) - c.490A>G (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs38770686 | 165 | W>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.6) Somatic: No Accession: NC_000073.7:g.43790320G>T Codon: TGG/TTG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790320G>T Locations: - p.Trp165Leu (Ensembl:ENSMUST00000005933) - c.494G>T (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3388902070 | 168 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000073.7:g.43790328C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790328C>T Locations: - p.Pro168Ser (Ensembl:ENSMUST00000005933) - c.502C>T (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs251523577 | 187 | A>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000073.7:g.43790386C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790386C>A Locations: - p.Ala187Asp (Ensembl:ENSMUST00000005933) - c.560C>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs50108458 | 187 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000073.7:g.43790385G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790385G>A Locations: - p.Ala187Thr (Ensembl:ENSMUST00000005933) - c.559G>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs251523577 | 187 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000073.7:g.43790386C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790386C>T Locations: - p.Ala187Val (Ensembl:ENSMUST00000005933) - c.560C>T (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3545642228 | 188 | Y>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.43790388T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790388T>A Locations: - p.Tyr188Asn (Ensembl:ENSMUST00000005933) - c.562T>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs47948978 | 189 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.36) Somatic: No Accession: NC_000073.7:g.43790391C>A Codon: CTA/ATA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790391C>A Locations: - p.Leu189Ile (Ensembl:ENSMUST00000005933) - c.565C>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3545714030 | 190 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000073.7:g.43790395T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790395T>A Locations: - p.Leu190Gln (Ensembl:ENSMUST00000005933) - c.569T>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs36998611 | 203 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000073.7:g.43790433G>C Codon: GGT/CGT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790433G>C Locations: - p.Gly203Arg (Ensembl:ENSMUST00000005933) - c.607G>C (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3545620221 | 204 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000073.7:g.43790437A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790437A>G Locations: - p.Glu204Gly (Ensembl:ENSMUST00000005933) - c.611A>G (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs225942189 | 204 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000073.7:g.43790436G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790436G>A Locations: - p.Glu204Lys (Ensembl:ENSMUST00000005933) - c.610G>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs36359604 | 205 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000073.7:g.43790440A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790440A>G Locations: - p.Asp205Gly (Ensembl:ENSMUST00000005933) - c.614A>G (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs36359604 | 205 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000073.7:g.43790440A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790440A>T Locations: - p.Asp205Val (Ensembl:ENSMUST00000005933) - c.614A>T (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3545619880 | 208 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000073.7:g.43790448C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790448C>A Locations: - p.Pro208Thr (Ensembl:ENSMUST00000005933) - c.622C>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3388902001 | 209 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.43790451T>A Codon: TGT/AGT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790451T>A Locations: - p.Cys209Ser (Ensembl:ENSMUST00000005933) - c.625T>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3545637519 | 214 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000073.7:g.43790840G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790840G>A Locations: - p.Gly214Glu (Ensembl:ENSMUST00000005933) - c.641G>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3388905572 | 218 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.43790852T>A Codon: ATT/AAT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790852T>A Locations: - p.Ile218Asn (Ensembl:ENSMUST00000005933) - c.653T>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs46261262 | 226 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000073.7:g.43790876C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790876C>T Locations: - p.Thr226Ile (Ensembl:ENSMUST00000005933) - c.677C>T (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3545642180 | 227 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000073.7:g.43790879T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790879T>C Locations: - p.Val227Ala (Ensembl:ENSMUST00000005933) - c.680T>C (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3545735100 | 227 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000073.7:g.43790878G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790878G>A Locations: - p.Val227Ile (Ensembl:ENSMUST00000005933) - c.679G>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs37300763 | 229 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000073.7:g.43790885T>A Codon: ATT/AAT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790885T>A Locations: - p.Ile229Asn (Ensembl:ENSMUST00000005933) - c.686T>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs37737177 | 235 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.95) Somatic: No Accession: NC_000073.7:g.43790903G>C Codon: GGT/GCT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790903G>C Locations: - p.Gly235Ala (Ensembl:ENSMUST00000005933) - c.704G>C (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs220112648 | 239 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000073.7:g.43790914G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790914G>A Locations: - p.Val239Ile (Ensembl:ENSMUST00000005933) - c.715G>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs36670656 | 240 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000073.7:g.43790917T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790917T>C Locations: - p.Ser240Pro (Ensembl:ENSMUST00000005933) - c.718T>C (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3545684705 | 241 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000073.7:g.43790921C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790921C>G Locations: - p.Ala241Gly (Ensembl:ENSMUST00000005933) - c.722C>G (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3388887975 | 244 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000073.7:g.43790930C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790930C>G Locations: - p.Thr244Ser (Ensembl:ENSMUST00000005933) - c.731C>G (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs36452276 | 247 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000073.7:g.43790938G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790938G>A Locations: - p.Val247Ile (Ensembl:ENSMUST00000005933) - c.739G>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs3388902375 | 257 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.4) Somatic: No Accession: NC_000073.7:g.43790970G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790970G>A Locations: - p.Met257Ile (Ensembl:ENSMUST00000005933) - c.771G>A (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: | |||||||
rs232346422 | 261 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000073.7:g.43790980G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.43790980G>C Locations: - p.Ala261Pro (Ensembl:ENSMUST00000005933) - c.781G>C (Ensembl:ENSMUST00000005933) Source type: large scale study Cross-references: |