Q6P9K9 · NRX3A_MOUSE
- ProteinNeurexin-3
- GeneNrxn3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1571 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389251826 | 16 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.88762000A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.88762000A>T Locations: - p.Ile16Phe (Ensembl:ENSMUST00000163134) - c.46A>T (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389268593 | 111 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.88762286T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.88762286T>C Locations: - p.Phe111Ser (Ensembl:ENSMUST00000163134) - c.332T>C (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389220993 | 125 | I>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.88762328T>G Codon: ATT/AGT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.88762328T>G Locations: - p.Ile125Ser (Ensembl:ENSMUST00000163134) - c.374T>G (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389250252 | 188 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.88762517T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.88762517T>C Locations: - p.Leu188Pro (Ensembl:ENSMUST00000163134) - c.563T>C (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs239612147 | 198 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000078.7:g.88762547C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.88762547C>T Locations: - p.Ala198Val (Ensembl:ENSMUST00000163134) - c.593C>T (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389255224 | 246 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.88817058A>T Codon: CAT/CTT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.88817058A>T Locations: - p.His246Leu (Ensembl:ENSMUST00000163134) - c.737A>T (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389256525 | 246 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.88817059T>A Codon: CAT/CAA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.88817059T>A Locations: - p.His246Gln (Ensembl:ENSMUST00000163134) - c.738T>A (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389268550 | 247 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.88817061T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.88817061T>C Locations: - p.Leu247Pro (Ensembl:ENSMUST00000163134) - c.740T>C (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389227594 | 257 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89153804A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89153804A>G Locations: - p.Asn257Ser (Ensembl:ENSMUST00000163134) - c.770A>G (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389212525 | 277 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89153865G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89153865G>T Locations: - p.Gln277His (Ensembl:ENSMUST00000163134) - c.831G>T (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389268599 | 339 | D>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89154049G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89154049G>C Locations: - p.Asp339His (Ensembl:ENSMUST00000163134) - c.1015G>C (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389263313 | 348 | T>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89154077C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89154077C>G Locations: - p.Thr348Arg (Ensembl:ENSMUST00000163134) - c.1043C>G (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389255219 | 376 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89159883G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89159883G>A Locations: - p.Gly376Asp (Ensembl:ENSMUST00000163134) - c.1127G>A (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389260442 | 381 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89159899C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89159899C>A Locations: - p.Phe381Leu (Ensembl:ENSMUST00000163134) - c.1143C>A (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389253893 | 409 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89221447G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89221447G>A Locations: - p.Val409Ile (Ensembl:ENSMUST00000163134) - c.1225G>A (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389221019 | 421 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89221484G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89221484G>A Locations: - p.Arg421His (Ensembl:ENSMUST00000163134) - c.1262G>A (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389239465 | 431 | K>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89221514A>T Codon: AAA/ATA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89221514A>T Locations: - p.Lys431Ile (Ensembl:ENSMUST00000163134) - c.1292A>T (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389256488 | 467 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89221622G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89221622G>A Locations: - p.Arg467His (Ensembl:ENSMUST00000163134) - c.1400G>A (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389249549 | 478 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000078.7:g.89221655C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89221655C>G Locations: - p.Thr478Ser (Ensembl:ENSMUST00000163134) - c.1433C>G (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389250255 | 486 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89221679T>A Codon: TTC/TAC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89221679T>A Locations: - p.Phe486Tyr (Ensembl:ENSMUST00000163134) - c.1457T>A (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389184435 | 487 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89221681A>T Codon: ACT/TCT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89221681A>T Locations: - p.Thr487Ser (Ensembl:ENSMUST00000163134) - c.1459A>T (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs241832271 | 498 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89221714C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89221714C>T Locations: - p.Arg498Trp (Ensembl:ENSMUST00000163134) - c.1492C>T (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389239417 | 504 | K>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89221733A>T Codon: AAA/ATA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89221733A>T Locations: - p.Lys504Ile (Ensembl:ENSMUST00000163134) - c.1511A>T (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389263361 | 514 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89221763A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89221763A>T Locations: - p.Asp514Val (Ensembl:ENSMUST00000163134) - c.1541A>T (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389250262 | 548 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89221864C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89221864C>A Locations: - p.Gln548Lys (Ensembl:ENSMUST00000163134) - c.1642C>A (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389249571 | 687 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89315032C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89315032C>A Locations: - p.Ser687Arg (Ensembl:ENSMUST00000163134) - c.2061C>A (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389220969 | 713 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89315108T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89315108T>C Locations: - p.Phe713Leu (Ensembl:ENSMUST00000163134) - c.2137T>C (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389212448 | 740 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89315190G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89315190G>A Locations: - p.Gly740Asp (Ensembl:ENSMUST00000163134) - c.2219G>A (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389255285 | 745 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89315204C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89315204C>T Locations: - p.Leu745Phe (Ensembl:ENSMUST00000163134) - c.2233C>T (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389220994 | 895 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89477382C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89477382C>A Locations: - p.Leu895Ile (Ensembl:ENSMUST00000163134) - c.2683C>A (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs46881689 | 913 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89477436G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89477436G>A Locations: - p.Gly913Arg (Ensembl:ENSMUST00000163134) - c.2737G>A (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389184482 | 950 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89478757A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89478757A>T Locations: - p.Asn950Ile (Ensembl:ENSMUST00000163134) - c.2849A>T (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs46117135 | 963 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000078.7:g.89478796G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89478796G>A Locations: - p.Ser963Asn (Ensembl:ENSMUST00000163134) - c.2888G>A (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389268534 | 998 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89479732G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89479732G>T Locations: - p.Ala998Ser (Ensembl:ENSMUST00000163134) - c.2992G>T (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389212486 | 1000 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89479739G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89479739G>T Locations: - p.Gly1000Val (Ensembl:ENSMUST00000163134) - c.2999G>T (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389263344 | 1010 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89479769C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89479769C>T Locations: - p.Ala1010Val (Ensembl:ENSMUST00000163134) - c.3029C>T (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3403327881 | 1041 | Q>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89479861C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89479861C>G Locations: - p.Gln1041Glu (Ensembl:ENSMUST00000163134) - c.3121C>G (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389246573 | 1044 | R>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000078.7:g.89479870C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 12q Genomic location: NC_000078.7:g.89479870C>T Locations: - p.Arg1044Ter (Ensembl:ENSMUST00000163134) - c.3130C>T (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs387737665 | 1044 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89479871G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89479871G>A Locations: - p.Arg1044Gln (Ensembl:ENSMUST00000163134) - c.3131G>A (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389251850 | 1067 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89499718A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89499718A>G Locations: - p.Gln1067Arg (Ensembl:ENSMUST00000163134) - c.3200A>G (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389249603 | 1086 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.89499775A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.89499775A>T Locations: - p.Asn1086Ile (Ensembl:ENSMUST00000163134) - c.3257A>T (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389227575 | 1239 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.90171294T>G Codon: CTA/CGA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.90171294T>G Locations: - p.Leu1239Arg (Ensembl:ENSMUST00000163134) - c.3716T>G (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389246536 | 1275 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.90171402A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.90171402A>G Locations: - p.Asn1275Ser (Ensembl:ENSMUST00000163134) - c.3824A>G (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389249542 | 1277 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.90171407G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.90171407G>A Locations: - p.Ala1277Thr (Ensembl:ENSMUST00000163134) - c.3829G>A (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389260459 | 1295 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000078.7:g.90171461G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 12q Genomic location: NC_000078.7:g.90171461G>T Locations: - p.Glu1295Ter (Ensembl:ENSMUST00000163134) - c.3883G>T (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389268521 | 1338 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.90171592G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.90171592G>T Locations: - p.Gln1338His (Ensembl:ENSMUST00000163134) - c.4014G>T (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389184431 | 1438 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.90298781C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.90298781C>T Locations: - p.Pro1438Leu (Ensembl:ENSMUST00000163134) - c.4313C>T (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3403662215 | 1475 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.90298891A>C Codon: ACG/CCG Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.90298891A>C Locations: - p.Thr1475Pro (Ensembl:ENSMUST00000163134) - c.4423A>C (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3389262608 | 1479 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000078.7:g.90298903A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.90298903A>T Locations: - p.Ile1479Phe (Ensembl:ENSMUST00000163134) - c.4435A>T (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: | |||||||
rs3403569145 | 1572 | *>Y | EVA | ||||
Consequence: stop lost Somatic: No Accession: NC_000078.7:g.90299184A>C Codon: TAA/TAC Consequence type: stop lost Cytogenetic band: 12q Genomic location: NC_000078.7:g.90299184A>C Locations: - p.Ter1572TyrextTer2 (Ensembl:ENSMUST00000163134) - c.4716A>C (Ensembl:ENSMUST00000163134) Source type: large scale study Cross-references: |