Q80SY9 · Q80SY9_MOUSE
- ProteinNucleotide-binding oligomerization domain-containing protein 2
- GeneNod2
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids1013 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs247390411 | 19 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000074.7:g.89379555A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89379555A>G Locations: - p.Ile19Val (Ensembl:ENSMUST00000118370) - c.55A>G (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs3388975426 | 29 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.89379586T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89379586T>C Locations: - p.Ile29Thr (Ensembl:ENSMUST00000118370) - c.86T>C (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs3388975441 | 32 | W>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.36) Somatic: No Accession: NC_000074.7:g.89379594T>A Codon: TGG/AGG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89379594T>A Locations: - p.Trp32Arg (Ensembl:ENSMUST00000118370) - c.94T>A (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs3398948104 | 46 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000074.7:g.89379637G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89379637G>C Locations: - p.Gly46Ala (Ensembl:ENSMUST00000118370) - c.137G>C (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs47572763 | 80 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000074.7:g.89379738G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89379738G>A Locations: - p.Val80Met (Ensembl:ENSMUST00000118370) - c.238G>A (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs48081862 | 93 | Y>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.55) Somatic: No Accession: NC_000074.7:g.89379777T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89379777T>C Locations: - p.Tyr93His (Ensembl:ENSMUST00000118370) - c.277T>C (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs3389004813 | 98 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000074.7:g.89379793C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89379793C>T Locations: - p.Thr98Ile (Ensembl:ENSMUST00000118370) - c.293C>T (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs3389004755 | 99 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.51) Somatic: No Accession: NC_000074.7:g.89379797C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89379797C>A Locations: - p.His99Gln (Ensembl:ENSMUST00000118370) - c.297C>A (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs49803184 | 101 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000074.7:g.89379801C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89379801C>T Locations: - p.Leu101Phe (Ensembl:ENSMUST00000118370) - c.301C>T (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs49803184 | 101 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000074.7:g.89379801C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89379801C>G Locations: - p.Leu101Val (Ensembl:ENSMUST00000118370) - c.301C>G (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs3388986668 | 104 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.5) Somatic: No Accession: NC_000074.7:g.89379810A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89379810A>T Locations: - p.Thr104Ser (Ensembl:ENSMUST00000118370) - c.310A>T (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs3388992506 | 106 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_000074.7:g.89379816G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89379816G>A Locations: - p.Asp106Asn (Ensembl:ENSMUST00000118370) - c.316G>A (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs3388993066 | 113 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.83) Somatic: No Accession: NC_000074.7:g.89379837G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89379837G>T Locations: - p.Ala113Ser (Ensembl:ENSMUST00000118370) - c.337G>T (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs261954374 | 132 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.75) Somatic: No Accession: NC_000074.7:g.89379894G>C Codon: GGG/CGG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89379894G>C Locations: - p.Gly132Arg (Ensembl:ENSMUST00000118370) - c.394G>C (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs242023857 | 176 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000074.7:g.89387233G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89387233G>A Locations: - p.Val176Ile (Ensembl:ENSMUST00000118370) - c.526G>A (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs227587892 | 182 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000074.7:g.89387252C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89387252C>T Locations: - p.Pro182Leu (Ensembl:ENSMUST00000118370) - c.545C>T (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs233317350 | 197 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000074.7:g.89390349T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89390349T>C Locations: - p.Ser197Pro (Ensembl:ENSMUST00000118370) - c.589T>C (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs13479904 | 205 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000074.7:g.89390373A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89390373A>G Locations: - p.Thr205Ala (Ensembl:ENSMUST00000118370) - c.613A>G (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs3389001367 | 208 | R>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: NC_000074.7:g.89390382C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89390382C>T Locations: - p.Arg208Cys (Ensembl:ENSMUST00000118370) - c.622C>T (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs3388996120 | 227 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.89390440A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89390440A>G Locations: - p.Glu227Gly (Ensembl:ENSMUST00000118370) - c.680A>G (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs32621110 | 233 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000074.7:g.89390458A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89390458A>G Locations: - p.Gln233Arg (Ensembl:ENSMUST00000118370) - c.698A>G (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs243406545 | 235 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.71) Somatic: No Accession: NC_000074.7:g.89390465A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89390465A>T Locations: - p.Glu235Asp (Ensembl:ENSMUST00000118370) - c.705A>T (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs3507897042 | 240 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000074.7:g.89390478G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89390478G>A Locations: - p.Gly240Arg (Ensembl:ENSMUST00000118370) - c.718G>A (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs218613030 | 315 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000074.7:g.89390704C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89390704C>T Locations: - p.Pro315Leu (Ensembl:ENSMUST00000118370) - c.944C>T (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs234099517 | 317 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000074.7:g.89390710C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89390710C>G Locations: - p.Ser317Cys (Ensembl:ENSMUST00000118370) - c.950C>G (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs3546786253 | 362 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.89390845C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89390845C>T Locations: - p.Thr362Ile (Ensembl:ENSMUST00000118370) - c.1085C>T (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs51317776 | 415 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000074.7:g.89391005G>C Codon: TTG/TTC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89391005G>C Locations: - p.Leu415Phe (Ensembl:ENSMUST00000118370) - c.1245G>C (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs49412699 | 415 | L>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.89391004T>G Codon: TTG/TGG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89391004T>G Locations: - p.Leu415Trp (Ensembl:ENSMUST00000118370) - c.1244T>G (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs108246188 | 478 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000074.7:g.89391193G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89391193G>T Locations: - p.Gly478Val (Ensembl:ENSMUST00000118370) - c.1433G>T (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs224527675 | 506 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.7) Somatic: No Accession: NC_000074.7:g.89391276C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89391276C>T Locations: - p.Leu506Phe (Ensembl:ENSMUST00000118370) - c.1516C>T (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs218016175 | 507 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000074.7:g.89391279G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89391279G>A Locations: - p.Gly507Ser (Ensembl:ENSMUST00000118370) - c.1519G>A (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs236785847 | 565 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000074.7:g.89391454T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89391454T>G Locations: - p.Val565Gly (Ensembl:ENSMUST00000118370) - c.1694T>G (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs264196416 | 571 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.51) Somatic: No Accession: NC_000074.7:g.89391471C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89391471C>T Locations: - p.Pro571Ser (Ensembl:ENSMUST00000118370) - c.1711C>T (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs242328134 | 596 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.84) Somatic: No Accession: NC_000074.7:g.89391547T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89391547T>C Locations: - p.Val596Ala (Ensembl:ENSMUST00000118370) - c.1787T>C (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs48436459 | 668 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000074.7:g.89391762G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89391762G>A Locations: - p.Val668Ile (Ensembl:ENSMUST00000118370) - c.2002G>A (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs3507904579 | 679 | R>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_000074.7:g.89391795C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89391795C>T Locations: - p.Arg679Cys (Ensembl:ENSMUST00000118370) - c.2035C>T (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs250615209 | 760 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.54) Somatic: No Accession: NC_000074.7:g.89392038C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89392038C>A Locations: - p.Gln760Lys (Ensembl:ENSMUST00000118370) - c.2278C>A (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs3399116691 | 774 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000074.7:g.89392081C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89392081C>G Locations: - p.Ser774Cys (Ensembl:ENSMUST00000118370) - c.2321C>G (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs215511090 | 806 | R>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_000074.7:g.89397073C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89397073C>T Locations: - p.Arg806Cys (Ensembl:ENSMUST00000118370) - c.2416C>T (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs3388950689 | 863 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000074.7:g.89399340G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89399340G>A Locations: - p.Val863Met (Ensembl:ENSMUST00000118370) - c.2587G>A (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs3388999302 | 876 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.89399379T>A Codon: TTC/ATC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89399379T>A Locations: - p.Phe876Ile (Ensembl:ENSMUST00000118370) - c.2626T>A (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs49033188 | 918 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.65) Somatic: No Accession: NC_000074.7:g.89402109G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89402109G>C Locations: - p.Glu918Gln (Ensembl:ENSMUST00000118370) - c.2752G>C (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs229218070 | 932 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000074.7:g.89402153A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89402153A>C Locations: - p.Glu932Asp (Ensembl:ENSMUST00000118370) - c.2796A>C (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs3388999486 | 949 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000074.7:g.89408286C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89408286C>T Locations: - p.Ala949Val (Ensembl:ENSMUST00000118370) - c.2846C>T (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs3388993136 | 974 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000074.7:g.89411110A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89411110A>T Locations: - p.Glu974Asp (Ensembl:ENSMUST00000118370) - c.2922A>T (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs228826090 | 978 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000074.7:g.89411120C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89411120C>A Locations: - p.Gln978Lys (Ensembl:ENSMUST00000118370) - c.2932C>A (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs3398932179 | 981 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000074.7:g.89411131C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89411131C>A Locations: - p.Ser981Arg (Ensembl:ENSMUST00000118370) - c.2943C>A (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs3399611046 | 983 | N>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000074.7:g.89411135A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89411135A>C Locations: - p.Asn983His (Ensembl:ENSMUST00000118370) - c.2947A>C (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs3399476147 | 984 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.31) Somatic: No Accession: NC_000074.7:g.89411140T>G Codon: AGT/AGG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89411140T>G Locations: - p.Ser984Arg (Ensembl:ENSMUST00000118370) - c.2952T>G (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs3399222591 | 986 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000074.7:g.89411146T>G Codon: ATT/ATG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89411146T>G Locations: - p.Ile986Met (Ensembl:ENSMUST00000118370) - c.2958T>G (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs3398948108 | 987 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: NC_000074.7:g.89411148T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89411148T>A Locations: - p.Leu987Gln (Ensembl:ENSMUST00000118370) - c.2960T>A (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs3388996312 | 1007 | R>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000074.7:g.89413308G>T Codon: AGG/ATG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.89413308G>T Locations: - p.Arg1007Met (Ensembl:ENSMUST00000118370) - c.3020G>T (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: | |||||||
rs3388999564 | 1014 | *>C | EVA | ||||
Consequence: stop lost Somatic: No Accession: NC_000074.7:g.89413330A>T Codon: TGA/TGT Consequence type: stop lost Cytogenetic band: 8q Genomic location: NC_000074.7:g.89413330A>T Locations: - p.Ter1014CysextTer5 (Ensembl:ENSMUST00000118370) - c.3042A>T (Ensembl:ENSMUST00000118370) Source type: large scale study Cross-references: |