Q6F3F9 · AGRG6_MOUSE
- ProteinAdhesion G-protein coupled receptor G6
- GeneAdgrg6
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1165 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs248073463 | 14 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.14411659T>G Codon: AGA/AGC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14411659T>G Locations: - p.Arg14Ser (Ensembl:ENSMUST00000041168) - c.42A>C (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389099421 | 29 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.38) Somatic: No Accession: NC_000076.7:g.14411615G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14411615G>C Locations: - p.Thr29Ser (Ensembl:ENSMUST00000041168) - c.86C>G (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389058321 | 35 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000076.7:g.14411598C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14411598C>A Locations: - p.Val35Leu (Ensembl:ENSMUST00000041168) - c.103G>T (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389090030 | 167 | Y>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000076.7:g.14343447A>C Codon: TAC/GAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14343447A>C Locations: - p.Tyr167Asp (Ensembl:ENSMUST00000041168) - c.499T>G (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs49783501 | 196 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000076.7:g.14343359C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14343359C>T Locations: - p.Gly196Asp (Ensembl:ENSMUST00000041168) - c.587G>A (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs241257440 | 197 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000076.7:g.14343356C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14343356C>T Locations: - p.Gly197Asp (Ensembl:ENSMUST00000041168) - c.590G>A (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs49865384 | 211 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000076.7:g.14343314T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14343314T>C Locations: - p.Gln211Arg (Ensembl:ENSMUST00000041168) - c.632A>G (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389089848 | 226 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000076.7:g.14343270T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14343270T>A Locations: - p.Ile226Phe (Ensembl:ENSMUST00000041168) - c.676A>T (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389093751 | 226 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.14343269A>T Codon: ATC/AAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14343269A>T Locations: - p.Ile226Asn (Ensembl:ENSMUST00000041168) - c.677T>A (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs46389812 | 264 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000076.7:g.14343156T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14343156T>C Locations: - p.Ile264Val (Ensembl:ENSMUST00000041168) - c.790A>G (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs45908322 | 267 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: NC_000076.7:g.14343146T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14343146T>C Locations: - p.Asn267Ser (Ensembl:ENSMUST00000041168) - c.800A>G (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs46309748 | 283 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000076.7:g.14343099C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14343099C>T Locations: - p.Ala283Thr (Ensembl:ENSMUST00000041168) - c.847G>A (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3547673603 | 283 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000076.7:g.14343098G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14343098G>A Locations: - p.Ala283Val (Ensembl:ENSMUST00000041168) - c.848C>T (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389092677 | 299 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000076.7:g.14343049C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14343049C>A Locations: - p.Glu299Asp (Ensembl:ENSMUST00000041168) - c.897G>T (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs50560406 | 300 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000076.7:g.14343048C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14343048C>T Locations: - p.Val300Ile (Ensembl:ENSMUST00000041168) - c.898G>A (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389099397 | 349 | K>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.14342900T>A Codon: AAA/ATA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14342900T>A Locations: - p.Lys349Ile (Ensembl:ENSMUST00000041168) - c.1046A>T (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs48635675 | 365 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.7) Somatic: No Accession: NC_000076.7:g.14333869C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14333869C>A Locations: - p.Ala365Ser (Ensembl:ENSMUST00000041168) - c.1093G>T (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389068719 | 409 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000076.7:g.14324614G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14324614G>A Locations: - p.Leu409Phe (Ensembl:ENSMUST00000041168) - c.1225C>T (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389068743 | 444 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000076.7:g.14323820C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14323820C>A Locations: - p.Asp444Tyr (Ensembl:ENSMUST00000041168) - c.1330G>T (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389058306 | 446 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000076.7:g.14323813T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14323813T>A Locations: - p.Asp446Val (Ensembl:ENSMUST00000041168) - c.1337A>T (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389082117 | 498 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.14317242C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14317242C>T Locations: - p.Cys498Tyr (Ensembl:ENSMUST00000041168) - c.1493G>A (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389092643 | 542 | W>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.14316111C>A Codon: TGG/TTG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14316111C>A Locations: - p.Trp542Leu (Ensembl:ENSMUST00000041168) - c.1625G>T (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3547673748 | 545 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000076.7:g.14316103C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14316103C>T Locations: - p.Val545Ile (Ensembl:ENSMUST00000041168) - c.1633G>A (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389099389 | 604 | I>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.14315409T>A Codon: ATA/TTA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14315409T>A Locations: - p.Ile604Leu (Ensembl:ENSMUST00000041168) - c.1810A>T (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389085403 | 617 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000076.7:g.14315369A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14315369A>G Locations: - p.Leu617Pro (Ensembl:ENSMUST00000041168) - c.1850T>C (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs6266469 | 687 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: NC_000076.7:g.14312643T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14312643T>C Locations: - p.Thr687Ala (Ensembl:ENSMUST00000041168) - c.2059A>G (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389085417 | 705 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.14312588G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14312588G>T Locations: - p.Pro705His (Ensembl:ENSMUST00000041168) - c.2114C>A (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389100258 | 756 | V>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.14310054C>A Codon: GTT/TTT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14310054C>A Locations: - p.Val756Phe (Ensembl:ENSMUST00000041168) - c.2266G>T (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389089630 | 785 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.14307448C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14307448C>T Locations: - p.Gly785Arg (Ensembl:ENSMUST00000041168) - c.2353G>A (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389064445 | 798 | L>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000076.7:g.14307408A>G Codon: TTG/TCG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14307408A>G Locations: - p.Leu798Ser (Ensembl:ENSMUST00000041168) - c.2393T>C (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389089660 | 806 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.14307384A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14307384A>G Locations: - p.Leu806Pro (Ensembl:ENSMUST00000041168) - c.2417T>C (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389082081 | 865 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.14302733A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14302733A>T Locations: - p.Asp865Glu (Ensembl:ENSMUST00000041168) - c.2595T>A (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs250142655 | 891 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000076.7:g.14302657C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14302657C>T Locations: - p.Val891Ile (Ensembl:ENSMUST00000041168) - c.2671G>A (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3413124402 | 897 | A>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000076.7:g.14302638G>T Codon: GCT/GAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14302638G>T Locations: - p.Ala897Asp (Ensembl:ENSMUST00000041168) - c.2690C>A (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389033894 | 925 | M>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.14302555T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14302555T>C Locations: - p.Met925Val (Ensembl:ENSMUST00000041168) - c.2773A>G (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389089905 | 966 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000076.7:g.14298464A>C Codon: AAT/AAG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14298464A>C Locations: - p.Asn966Lys (Ensembl:ENSMUST00000041168) - c.2898T>G (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389088253 | 974 | Y>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000076.7:g.14298442A>T Codon: TAT/AAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14298442A>T Locations: - p.Tyr974Asn (Ensembl:ENSMUST00000041168) - c.2920T>A (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs252280734 | 979 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000076.7:g.14298427C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14298427C>T Locations: - p.Asp979Asn (Ensembl:ENSMUST00000041168) - c.2935G>A (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389089865 | 1004 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.14296388A>T Codon: TTC/TAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14296388A>T Locations: - p.Phe1004Tyr (Ensembl:ENSMUST00000041168) - c.3011T>A (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3400316540 | 1037 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000076.7:g.14296290G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14296290G>T Locations: - p.Leu1037Met (Ensembl:ENSMUST00000041168) - c.3109C>A (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3400888013 | 1039 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.14296282A>C Codon: AGT/AGG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14296282A>C Locations: - p.Ser1039Arg (Ensembl:ENSMUST00000041168) - c.3117T>G (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3399796407 | 1040 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.14296280A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14296280A>T Locations: - p.Val1040Glu (Ensembl:ENSMUST00000041168) - c.3119T>A (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3400684604 | 1040 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000076.7:g.14296281C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14296281C>T Locations: - p.Val1040Met (Ensembl:ENSMUST00000041168) - c.3118G>A (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389092704 | 1042 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.14296273G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14296273G>C Locations: - p.Ser1042Arg (Ensembl:ENSMUST00000041168) - c.3126C>G (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3400942556 | 1045 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.14296266A>T Codon: TTC/ATC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14296266A>T Locations: - p.Phe1045Ile (Ensembl:ENSMUST00000041168) - c.3133T>A (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3399796364 | 1045 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.14296264G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14296264G>T Locations: - p.Phe1045Leu (Ensembl:ENSMUST00000041168) - c.3135C>A (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3411944267 | 1045 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.14296265A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14296265A>G Locations: - p.Phe1045Ser (Ensembl:ENSMUST00000041168) - c.3134T>C (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389089906 | 1052 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.14296245C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14296245C>T Locations: - p.Gly1052Arg (Ensembl:ENSMUST00000041168) - c.3154G>A (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389058318 | 1059 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.14296223C>A Codon: GGA/GTA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14296223C>A Locations: - p.Gly1059Val (Ensembl:ENSMUST00000041168) - c.3176G>T (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389100314 | 1090 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.14286262T>A Codon: AAT/ATT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14286262T>A Locations: - p.Asn1090Ile (Ensembl:ENSMUST00000041168) - c.3269A>T (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389090035 | 1093 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000076.7:g.14286254T>A Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 10q Genomic location: NC_000076.7:g.14286254T>A Locations: - p.Lys1093Ter (Ensembl:ENSMUST00000041168) - c.3277A>T (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389078006 | 1111 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.14285569T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14285569T>A Locations: - p.Asp1111Val (Ensembl:ENSMUST00000041168) - c.3332A>T (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389033843 | 1146 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.14285463T>A Codon: AAA/AAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14285463T>A Locations: - p.Lys1146Asn (Ensembl:ENSMUST00000041168) - c.3438A>T (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389078059 | 1151 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.87) Somatic: No Accession: NC_000076.7:g.14285450A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14285450A>T Locations: - p.Ser1151Thr (Ensembl:ENSMUST00000041168) - c.3451T>A (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: | |||||||
rs3389092681 | 1163 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000076.7:g.14283651A>T Codon: AAT/AAA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.14283651A>T Locations: - p.Asn1163Lys (Ensembl:ENSMUST00000041168) - c.3489T>A (Ensembl:ENSMUST00000041168) Source type: large scale study Cross-references: |