Q810B9 · SLIK3_MOUSE
- ProteinSLIT and NTRK-like protein 3
- GeneSlitrk3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids980 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs249420693 | 5 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.61) Somatic: No Accession: NC_000069.7:g.72958757C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72958757C>G Locations: - p.Ser5Thr (Ensembl:ENSMUST00000192477) - c.14G>C (Ensembl:ENSMUST00000192477) - p.Ser5Thr (Ensembl:ENSMUST00000059407) - c.14G>C (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388626708 | 37 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000069.7:g.72958660G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72958660G>C Locations: - p.Asp37Glu (Ensembl:ENSMUST00000192477) - c.111C>G (Ensembl:ENSMUST00000192477) - p.Asp37Glu (Ensembl:ENSMUST00000059407) - c.111C>G (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388634142 | 60 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.72958592A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72958592A>G Locations: - p.Ile60Thr (Ensembl:ENSMUST00000192477) - c.179T>C (Ensembl:ENSMUST00000192477) - p.Ile60Thr (Ensembl:ENSMUST00000059407) - c.179T>C (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3393217860 | 74 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000069.7:g.72958551T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72958551T>C Locations: - p.Thr74Ala (Ensembl:ENSMUST00000192477) - c.220A>G (Ensembl:ENSMUST00000192477) - p.Thr74Ala (Ensembl:ENSMUST00000059407) - c.220A>G (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388634064 | 85 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000069.7:g.72958518G>T Codon: CTT/ATT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72958518G>T Locations: - p.Leu85Ile (Ensembl:ENSMUST00000192477) - c.253C>A (Ensembl:ENSMUST00000192477) - p.Leu85Ile (Ensembl:ENSMUST00000059407) - c.253C>A (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388629864 | 92 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.94) Somatic: No Accession: NC_000069.7:g.72958496C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72958496C>T Locations: - p.Arg92Lys (Ensembl:ENSMUST00000192477) - c.275G>A (Ensembl:ENSMUST00000192477) - p.Arg92Lys (Ensembl:ENSMUST00000059407) - c.275G>A (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388637439 | 98 | F>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.72958479A>C Codon: TTT/GTT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72958479A>C Locations: - p.Phe98Val (Ensembl:ENSMUST00000192477) - c.292T>G (Ensembl:ENSMUST00000192477) - p.Phe98Val (Ensembl:ENSMUST00000059407) - c.292T>G (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388624120 | 115 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.72958426C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72958426C>G Locations: - p.Gln115His (Ensembl:ENSMUST00000192477) - c.345G>C (Ensembl:ENSMUST00000192477) - p.Gln115His (Ensembl:ENSMUST00000059407) - c.345G>C (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388626627 | 153 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000069.7:g.72958314C>A Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 3q Genomic location: NC_000069.7:g.72958314C>A Locations: - p.Glu153Ter (Ensembl:ENSMUST00000192477) - c.457G>T (Ensembl:ENSMUST00000192477) - p.Glu153Ter (Ensembl:ENSMUST00000059407) - c.457G>T (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388636647 | 158 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.72958299C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72958299C>T Locations: - p.Asp158Asn (Ensembl:ENSMUST00000192477) - c.472G>A (Ensembl:ENSMUST00000192477) - p.Asp158Asn (Ensembl:ENSMUST00000059407) - c.472G>A (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388630196 | 158 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.72958298T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72958298T>A Locations: - p.Asp158Val (Ensembl:ENSMUST00000192477) - c.473A>T (Ensembl:ENSMUST00000192477) - p.Asp158Val (Ensembl:ENSMUST00000059407) - c.473A>T (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388624060 | 182 | N>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.72958227T>A Codon: AAT/TAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72958227T>A Locations: - p.Asn182Tyr (Ensembl:ENSMUST00000192477) - c.544A>T (Ensembl:ENSMUST00000192477) - p.Asn182Tyr (Ensembl:ENSMUST00000059407) - c.544A>T (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs240396888 | 221 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.43) Somatic: No Accession: NC_000069.7:g.72958110T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72958110T>C Locations: - p.Ile221Val (Ensembl:ENSMUST00000192477) - c.661A>G (Ensembl:ENSMUST00000192477) - p.Ile221Val (Ensembl:ENSMUST00000059407) - c.661A>G (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388622670 | 243 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000069.7:g.72958042C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72958042C>A Locations: - p.Gln243His (Ensembl:ENSMUST00000192477) - c.729G>T (Ensembl:ENSMUST00000192477) - p.Gln243His (Ensembl:ENSMUST00000059407) - c.729G>T (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388635178 | 251 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000069.7:g.72958020T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72958020T>C Locations: - p.Ile251Val (Ensembl:ENSMUST00000192477) - c.751A>G (Ensembl:ENSMUST00000192477) - p.Ile251Val (Ensembl:ENSMUST00000059407) - c.751A>G (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388633300 | 273 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000069.7:g.72957954G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72957954G>T Locations: - p.Leu273Ile (Ensembl:ENSMUST00000192477) - c.817C>A (Ensembl:ENSMUST00000192477) - p.Leu273Ile (Ensembl:ENSMUST00000059407) - c.817C>A (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388630185 | 280 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.72957932T>A Codon: GAA/GTA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72957932T>A Locations: - p.Glu280Val (Ensembl:ENSMUST00000192477) - c.839A>T (Ensembl:ENSMUST00000192477) - p.Glu280Val (Ensembl:ENSMUST00000059407) - c.839A>T (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388636573 | 283 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000069.7:g.72957924G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72957924G>A Locations: - p.Pro283Ser (Ensembl:ENSMUST00000192477) - c.847C>T (Ensembl:ENSMUST00000192477) - p.Pro283Ser (Ensembl:ENSMUST00000059407) - c.847C>T (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388637494 | 297 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000069.7:g.72957881G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72957881G>T Locations: - p.Pro297His (Ensembl:ENSMUST00000192477) - c.890C>A (Ensembl:ENSMUST00000192477) - p.Pro297His (Ensembl:ENSMUST00000059407) - c.890C>A (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388626699 | 301 | S>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000069.7:g.72957869G>C Codon: TCA/TGA Consequence type: stop gained Cytogenetic band: 3q Genomic location: NC_000069.7:g.72957869G>C Locations: - p.Ser301Ter (Ensembl:ENSMUST00000192477) - c.902C>G (Ensembl:ENSMUST00000192477) - p.Ser301Ter (Ensembl:ENSMUST00000059407) - c.902C>G (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388632222 | 303 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000069.7:g.72957864T>A Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 3q Genomic location: NC_000069.7:g.72957864T>A Locations: - p.Lys303Ter (Ensembl:ENSMUST00000059407) - c.907A>T (Ensembl:ENSMUST00000059407) - p.Lys303Ter (Ensembl:ENSMUST00000192477) - c.907A>T (Ensembl:ENSMUST00000192477) Source type: large scale study Cross-references: | |||||||
rs3388635188 | 322 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000069.7:g.72957806G>C Codon: GCT/GGT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72957806G>C Locations: - p.Ala322Gly (Ensembl:ENSMUST00000192477) - c.965C>G (Ensembl:ENSMUST00000192477) - p.Ala322Gly (Ensembl:ENSMUST00000059407) - c.965C>G (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs231208469 | 335 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000069.7:g.72957766T>G Codon: AAA/AAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72957766T>G Locations: - p.Lys335Asn (Ensembl:ENSMUST00000192477) - c.1005A>C (Ensembl:ENSMUST00000192477) - p.Lys335Asn (Ensembl:ENSMUST00000059407) - c.1005A>C (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388638055 | 348 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000069.7:g.72957729T>A Codon: ACA/TCA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72957729T>A Locations: - p.Thr348Ser (Ensembl:ENSMUST00000192477) - c.1042A>T (Ensembl:ENSMUST00000192477) - p.Thr348Ser (Ensembl:ENSMUST00000059407) - c.1042A>T (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388629855 | 350 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000069.7:g.72957721C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72957721C>A Locations: - p.Gln350His (Ensembl:ENSMUST00000192477) - c.1050G>T (Ensembl:ENSMUST00000192477) - p.Gln350His (Ensembl:ENSMUST00000059407) - c.1050G>T (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388622652 | 355 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000069.7:g.72957708C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72957708C>T Locations: - p.Gly355Ser (Ensembl:ENSMUST00000192477) - c.1063G>A (Ensembl:ENSMUST00000192477) - p.Gly355Ser (Ensembl:ENSMUST00000059407) - c.1063G>A (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388636633 | 358 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000069.7:g.72957697T>G Codon: CAA/CAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72957697T>G Locations: - p.Gln358His (Ensembl:ENSMUST00000192477) - c.1074A>C (Ensembl:ENSMUST00000192477) - p.Gln358His (Ensembl:ENSMUST00000059407) - c.1074A>C (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388633314 | 397 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000069.7:g.72957582C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72957582C>T Locations: - p.Gly397Arg (Ensembl:ENSMUST00000192477) - c.1189G>A (Ensembl:ENSMUST00000192477) - p.Gly397Arg (Ensembl:ENSMUST00000059407) - c.1189G>A (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388624109 | 417 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.72957520G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72957520G>T Locations: - p.Ser417Arg (Ensembl:ENSMUST00000192477) - c.1251C>A (Ensembl:ENSMUST00000192477) - p.Ser417Arg (Ensembl:ENSMUST00000059407) - c.1251C>A (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388630240 | 432 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: NC_000069.7:g.72957476A>T Codon: TTT/TAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72957476A>T Locations: - p.Phe432Tyr (Ensembl:ENSMUST00000192477) - c.1295T>A (Ensembl:ENSMUST00000192477) - p.Phe432Tyr (Ensembl:ENSMUST00000059407) - c.1295T>A (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388622650 | 433 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000069.7:g.72957474A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72957474A>G Locations: - p.Ser433Pro (Ensembl:ENSMUST00000192477) - c.1297T>C (Ensembl:ENSMUST00000192477) - p.Ser433Pro (Ensembl:ENSMUST00000059407) - c.1297T>C (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388634937 | 439 | H>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000069.7:g.72957456G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72957456G>T Locations: - p.His439Asn (Ensembl:ENSMUST00000192477) - c.1315C>A (Ensembl:ENSMUST00000192477) - p.His439Asn (Ensembl:ENSMUST00000059407) - c.1315C>A (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3541472854 | 482 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: NC_000069.7:g.72957326C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72957326C>T Locations: - p.Ser482Asn (Ensembl:ENSMUST00000192477) - c.1445G>A (Ensembl:ENSMUST00000192477) - p.Ser482Asn (Ensembl:ENSMUST00000059407) - c.1445G>A (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388636581 | 626 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.43) Somatic: No Accession: NC_000069.7:g.72956895G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72956895G>A Locations: - p.Pro626Ser (Ensembl:ENSMUST00000192477) - c.1876C>T (Ensembl:ENSMUST00000192477) - p.Pro626Ser (Ensembl:ENSMUST00000059407) - c.1876C>T (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs13477190 | 636 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.56) Somatic: No Accession: NC_000069.7:g.72956865C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72956865C>T Locations: - p.Gly636Arg (Ensembl:ENSMUST00000192477) - c.1906G>A (Ensembl:ENSMUST00000192477) - p.Gly636Arg (Ensembl:ENSMUST00000059407) - c.1906G>A (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3393077564 | 645 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.79) Somatic: No Accession: NC_000069.7:g.72956836G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72956836G>C Locations: - p.Phe645Leu (Ensembl:ENSMUST00000192477) - c.1935C>G (Ensembl:ENSMUST00000192477) - p.Phe645Leu (Ensembl:ENSMUST00000059407) - c.1935C>G (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs1133703865 | 646 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000069.7:g.72956834G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72956834G>C Locations: - p.Ser646Cys (Ensembl:ENSMUST00000192477) - c.1937C>G (Ensembl:ENSMUST00000192477) - p.Ser646Cys (Ensembl:ENSMUST00000059407) - c.1937C>G (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3393077478 | 653 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.72956814G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72956814G>A Locations: - p.Pro653Ser (Ensembl:ENSMUST00000192477) - c.1957C>T (Ensembl:ENSMUST00000192477) - p.Pro653Ser (Ensembl:ENSMUST00000059407) - c.1957C>T (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388633295 | 681 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000069.7:g.72956730G>T Codon: CGT/AGT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72956730G>T Locations: - p.Arg681Ser (Ensembl:ENSMUST00000192477) - c.2041C>A (Ensembl:ENSMUST00000192477) - p.Arg681Ser (Ensembl:ENSMUST00000059407) - c.2041C>A (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388634095 | 750 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000069.7:g.72956522T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72956522T>A Locations: - p.Gln750Leu (Ensembl:ENSMUST00000192477) - c.2249A>T (Ensembl:ENSMUST00000192477) - p.Gln750Leu (Ensembl:ENSMUST00000059407) - c.2249A>T (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388630217 | 763 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000069.7:g.72956483T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72956483T>C Locations: - p.Glu763Gly (Ensembl:ENSMUST00000192477) - c.2288A>G (Ensembl:ENSMUST00000192477) - p.Glu763Gly (Ensembl:ENSMUST00000059407) - c.2288A>G (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388636623 | 777 | D>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.54) Somatic: No Accession: NC_000069.7:g.72956441T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72956441T>G Locations: - p.Asp777Ala (Ensembl:ENSMUST00000192477) - c.2330A>C (Ensembl:ENSMUST00000192477) - p.Asp777Ala (Ensembl:ENSMUST00000059407) - c.2330A>C (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388632301 | 805 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.62) Somatic: No Accession: NC_000069.7:g.72956358T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72956358T>C Locations: - p.Asn805Asp (Ensembl:ENSMUST00000192477) - c.2413A>G (Ensembl:ENSMUST00000192477) - p.Asn805Asp (Ensembl:ENSMUST00000059407) - c.2413A>G (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388626668 | 805 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.78) Somatic: No Accession: NC_000069.7:g.72956356G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72956356G>T Locations: - p.Asn805Lys (Ensembl:ENSMUST00000192477) - c.2415C>A (Ensembl:ENSMUST00000192477) - p.Asn805Lys (Ensembl:ENSMUST00000059407) - c.2415C>A (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388626639 | 840 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.37) Somatic: No Accession: NC_000069.7:g.72956251G>C Codon: CAC/CAG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72956251G>C Locations: - p.His840Gln (Ensembl:ENSMUST00000192477) - c.2520C>G (Ensembl:ENSMUST00000192477) - p.His840Gln (Ensembl:ENSMUST00000059407) - c.2520C>G (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3541460021 | 844 | S>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.66) Somatic: No Accession: NC_000069.7:g.72956240G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72956240G>A Locations: - p.Ser844Leu (Ensembl:ENSMUST00000192477) - c.2531C>T (Ensembl:ENSMUST00000192477) - p.Ser844Leu (Ensembl:ENSMUST00000059407) - c.2531C>T (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388630241 | 898 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000069.7:g.72956078C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72956078C>T Locations: - p.Cys898Tyr (Ensembl:ENSMUST00000192477) - c.2693G>A (Ensembl:ENSMUST00000192477) - p.Cys898Tyr (Ensembl:ENSMUST00000059407) - c.2693G>A (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388635161 | 935 | K>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.72955967T>A Codon: AAA/ATA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72955967T>A Locations: - p.Lys935Ile (Ensembl:ENSMUST00000192477) - c.2804A>T (Ensembl:ENSMUST00000192477) - p.Lys935Ile (Ensembl:ENSMUST00000059407) - c.2804A>T (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388624057 | 960 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000069.7:g.72955891C>A Codon: AGG/AGT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72955891C>A Locations: - p.Arg960Ser (Ensembl:ENSMUST00000192477) - c.2880G>T (Ensembl:ENSMUST00000192477) - p.Arg960Ser (Ensembl:ENSMUST00000059407) - c.2880G>T (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388626679 | 962 | K>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.72955886T>A Codon: AAA/ATA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72955886T>A Locations: - p.Lys962Ile (Ensembl:ENSMUST00000192477) - c.2885A>T (Ensembl:ENSMUST00000192477) - p.Lys962Ile (Ensembl:ENSMUST00000059407) - c.2885A>T (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: | |||||||
rs3388617510 | 979 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000069.7:g.72955835C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.72955835C>T Locations: - p.Arg979Lys (Ensembl:ENSMUST00000192477) - c.2936G>A (Ensembl:ENSMUST00000192477) - p.Arg979Lys (Ensembl:ENSMUST00000059407) - c.2936G>A (Ensembl:ENSMUST00000059407) Source type: large scale study Cross-references: |