Q8R138 · TM119_MOUSE
- ProteinTransmembrane protein 119
- GeneTmem119
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids280 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388782647 | 20 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.36) Somatic: No Accession: NC_000071.7:g.113933742C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.113933742C>T Locations: - p.Ala20Thr (Ensembl:ENSMUST00000067853) - c.58G>A (Ensembl:ENSMUST00000067853) Source type: large scale study Cross-references: | |||||||
rs3395669786 | 50 | P>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000071.7:g.113933651G>C Codon: CCG/CGG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.113933651G>C Locations: - p.Pro50Arg (Ensembl:ENSMUST00000067853) - c.149C>G (Ensembl:ENSMUST00000067853) Source type: large scale study Cross-references: | |||||||
rs3395360822 | 51 | P>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.113933648G>T Codon: CCG/CAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.113933648G>T Locations: - p.Pro51Gln (Ensembl:ENSMUST00000067853) - c.152C>A (Ensembl:ENSMUST00000067853) Source type: large scale study Cross-references: | |||||||
rs3388766560 | 59 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000071.7:g.113933625G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.113933625G>A Locations: - p.Pro59Ser (Ensembl:ENSMUST00000067853) - c.175C>T (Ensembl:ENSMUST00000067853) Source type: large scale study Cross-references: | |||||||
rs247735692 | 62 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.62) Somatic: No Accession: NC_000071.7:g.113933615T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.113933615T>C Locations: - p.Glu62Gly (Ensembl:ENSMUST00000067853) - c.185A>G (Ensembl:ENSMUST00000067853) Source type: large scale study Cross-references: | |||||||
rs3388782170 | 73 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000071.7:g.113933583C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.113933583C>T Locations: - p.Val73Met (Ensembl:ENSMUST00000067853) - c.217G>A (Ensembl:ENSMUST00000067853) Source type: large scale study Cross-references: | |||||||
rs3388782408 | 78 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000071.7:g.113933568G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.113933568G>A Locations: - p.Leu78Phe (Ensembl:ENSMUST00000067853) - c.232C>T (Ensembl:ENSMUST00000067853) Source type: large scale study Cross-references: | |||||||
rs3388773862 | 132 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.113933405T>A Codon: TAT/TTT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.113933405T>A Locations: - p.Tyr132Phe (Ensembl:ENSMUST00000067853) - c.395A>T (Ensembl:ENSMUST00000067853) Source type: large scale study Cross-references: | |||||||
rs3388773861 | 146 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.113933364T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.113933364T>C Locations: - p.Ser146Gly (Ensembl:ENSMUST00000067853) - c.436A>G (Ensembl:ENSMUST00000067853) Source type: large scale study Cross-references: | |||||||
rs3388781535 | 152 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000071.7:g.113933346C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.113933346C>T Locations: - p.Ala152Thr (Ensembl:ENSMUST00000067853) - c.454G>A (Ensembl:ENSMUST00000067853) Source type: large scale study Cross-references: | |||||||
rs241958300 | 157 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000071.7:g.113933330T>G Codon: CAT/CCT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.113933330T>G Locations: - p.His157Pro (Ensembl:ENSMUST00000067853) - c.470A>C (Ensembl:ENSMUST00000067853) Source type: large scale study Cross-references: | |||||||
rs222425647 | 157 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_000071.7:g.113933329A>C Codon: CAT/CAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.113933329A>C Locations: - p.His157Gln (Ensembl:ENSMUST00000067853) - c.471T>G (Ensembl:ENSMUST00000067853) Source type: large scale study Cross-references: | |||||||
rs3388752537 | 159 | E>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.113933324T>G Codon: GAA/GCA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.113933324T>G Locations: - p.Glu159Ala (Ensembl:ENSMUST00000067853) - c.476A>C (Ensembl:ENSMUST00000067853) Source type: large scale study Cross-references: | |||||||
rs37515124 | 163 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000071.7:g.113933313T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.113933313T>A Locations: - p.Thr163Ser (Ensembl:ENSMUST00000067853) - c.487A>T (Ensembl:ENSMUST00000067853) Source type: large scale study Cross-references: | |||||||
rs3388752538 | 178 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.113933268G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.113933268G>C Locations: - p.Leu178Val (Ensembl:ENSMUST00000067853) - c.532C>G (Ensembl:ENSMUST00000067853) Source type: large scale study Cross-references: | |||||||
rs218093804 | 192 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: NC_000071.7:g.113933226C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.113933226C>T Locations: - p.Ala192Thr (Ensembl:ENSMUST00000067853) - c.574G>A (Ensembl:ENSMUST00000067853) Source type: large scale study Cross-references: | |||||||
rs261643994 | 200 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000071.7:g.113933202C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.113933202C>G Locations: - p.Glu200Gln (Ensembl:ENSMUST00000067853) - c.598G>C (Ensembl:ENSMUST00000067853) Source type: large scale study Cross-references: | |||||||
rs236382535 | 217 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000071.7:g.113933150G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.113933150G>A Locations: - p.Pro217Leu (Ensembl:ENSMUST00000067853) - c.650C>T (Ensembl:ENSMUST00000067853) Source type: large scale study Cross-references: | |||||||
rs213999857 | 222 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000071.7:g.113933135G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.113933135G>A Locations: - p.Thr222Ile (Ensembl:ENSMUST00000067853) - c.665C>T (Ensembl:ENSMUST00000067853) Source type: large scale study Cross-references: | |||||||
rs3388773516 | 225 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000071.7:g.113933127T>A Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 5q Genomic location: NC_000071.7:g.113933127T>A Locations: - p.Lys225Ter (Ensembl:ENSMUST00000067853) - c.673A>T (Ensembl:ENSMUST00000067853) Source type: large scale study Cross-references: | |||||||
rs251393503 | 225 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000071.7:g.113933126T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.113933126T>C Locations: - p.Lys225Arg (Ensembl:ENSMUST00000067853) - c.674A>G (Ensembl:ENSMUST00000067853) Source type: large scale study Cross-references: | |||||||
rs3388773830 | 230 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000071.7:g.113933111T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.113933111T>C Locations: - p.Glu230Gly (Ensembl:ENSMUST00000067853) - c.689A>G (Ensembl:ENSMUST00000067853) Source type: large scale study Cross-references: | |||||||
rs3388787042 | 242 | A>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000071.7:g.113933075G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.113933075G>T Locations: - p.Ala242Asp (Ensembl:ENSMUST00000067853) - c.725C>A (Ensembl:ENSMUST00000067853) Source type: large scale study Cross-references: | |||||||
rs215920369 | 248 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000071.7:g.113933058C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.113933058C>T Locations: - p.Gly248Arg (Ensembl:ENSMUST00000067853) - c.742G>A (Ensembl:ENSMUST00000067853) Source type: large scale study Cross-references: | |||||||
rs3388781572 | 279 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000071.7:g.113932964C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.113932964C>A Locations: - p.Ser279Ile (Ensembl:ENSMUST00000067853) - c.836G>T (Ensembl:ENSMUST00000067853) Source type: large scale study Cross-references: |