F8WH95 · F8WH95_MOUSE
- ProteinLysosomal-associated protein transmembrane 5
- GeneLaptm5
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids264 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3542883493 | 114 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000070.7:g.130656020C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.130656020C>G Locations: - p.Leu114Val (Ensembl:ENSMUST00000030316) - c.340C>G (Ensembl:ENSMUST00000030316) Source type: large scale study Cross-references: | |||||||
rs3388713843 | 122 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_000070.7:g.130656044G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.130656044G>T Locations: - p.Ala122Ser (Ensembl:ENSMUST00000030316) - c.364G>T (Ensembl:ENSMUST00000030316) Source type: large scale study Cross-references: | |||||||
rs3542813892 | 129 | P>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.78) Somatic: No Accession: NC_000070.7:g.130656065C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.130656065C>G Locations: - p.Pro129Ala (Ensembl:ENSMUST00000030316) - c.385C>G (Ensembl:ENSMUST00000030316) Source type: large scale study Cross-references: | |||||||
rs3388721082 | 129 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: NC_000070.7:g.130656066C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.130656066C>T Locations: - p.Pro129Leu (Ensembl:ENSMUST00000030316) - c.386C>T (Ensembl:ENSMUST00000030316) Source type: large scale study Cross-references: | |||||||
rs3388723375 | 164 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000070.7:g.130656827C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.130656827C>T Locations: - p.Leu164Phe (Ensembl:ENSMUST00000030316) - c.490C>T (Ensembl:ENSMUST00000030316) Source type: large scale study Cross-references: | |||||||
rs3542869053 | 177 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000070.7:g.130658096C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.130658096C>A Locations: - p.Ser177Arg (Ensembl:ENSMUST00000030316) - c.531C>A (Ensembl:ENSMUST00000030316) Source type: large scale study Cross-references: | |||||||
rs3542914622 | 183 | H>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.57) Somatic: No Accession: NC_000070.7:g.130658113A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.130658113A>G Locations: - p.His183Arg (Ensembl:ENSMUST00000030316) - c.548A>G (Ensembl:ENSMUST00000030316) Source type: large scale study Cross-references: | |||||||
rs3388717299 | 201 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000070.7:g.130658166C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.130658166C>G Locations: - p.Leu201Val (Ensembl:ENSMUST00000030316) - c.601C>G (Ensembl:ENSMUST00000030316) Source type: large scale study Cross-references: | |||||||
rs3542799678 | 216 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.53) Somatic: No Accession: NC_000070.7:g.130659362A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.130659362A>G Locations: - p.Lys216Arg (Ensembl:ENSMUST00000030316) - c.647A>G (Ensembl:ENSMUST00000030316) Source type: large scale study Cross-references: | |||||||
rs3388718814 | 249 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.63) Somatic: No Accession: NC_000070.7:g.130661812C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.130661812C>T Locations: - p.Pro249Leu (Ensembl:ENSMUST00000030316) - c.746C>T (Ensembl:ENSMUST00000030316) Source type: large scale study Cross-references: | |||||||
rs3388714813 | 262 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000070.7:g.130661850T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.130661850T>C Locations: - p.Ser262Pro (Ensembl:ENSMUST00000030316) - c.784T>C (Ensembl:ENSMUST00000030316) Source type: large scale study Cross-references: |