A6MDD2 · A6MDD2_MOUSE
- ProteinProtein tyrosine phosphatase receptor type N
- GenePtprn
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids981 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388480502 | 65 | C>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000067.7:g.75238765G>T Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 1q Genomic location: NC_000067.7:g.75238765G>T Locations: - p.Cys65Ter (Ensembl:ENSMUST00000027404) - c.195C>A (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388478769 | 68 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.75238757C>A Codon: GGA/GTA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75238757C>A Locations: - p.Gly68Val (Ensembl:ENSMUST00000027404) - c.203G>T (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388480569 | 70 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.92) Somatic: No Accession: NC_000067.7:g.75238751C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75238751C>T Locations: - p.Gly70Glu (Ensembl:ENSMUST00000027404) - c.209G>A (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs263035720 | 71 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000067.7:g.75238748T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75238748T>C Locations: - p.Gln71Arg (Ensembl:ENSMUST00000027404) - c.212A>G (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388480857 | 82 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000067.7:g.75238716C>G Codon: GTT/CTT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75238716C>G Locations: - p.Val82Leu (Ensembl:ENSMUST00000027404) - c.244G>C (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388478808 | 85 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.75238706C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75238706C>T Locations: - p.Arg85His (Ensembl:ENSMUST00000027404) - c.254G>A (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388479289 | 111 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000067.7:g.75237269T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75237269T>C Locations: - p.Gln111Arg (Ensembl:ENSMUST00000027404) - c.332A>G (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3390199030 | 130 | S>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000067.7:g.75235280A>C Codon: TCT/GCT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75235280A>C Locations: - p.Ser130Ala (Ensembl:ENSMUST00000027404) - c.388T>G (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs214514483 | 167 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: NC_000067.7:g.75235169C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75235169C>T Locations: - p.Asp167Asn (Ensembl:ENSMUST00000027404) - c.499G>A (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs224590538 | 168 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_000067.7:g.75235166C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75235166C>T Locations: - p.Gly168Arg (Ensembl:ENSMUST00000027404) - c.502G>A (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388479248 | 198 | H>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_000067.7:g.75235075T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75235075T>C Locations: - p.His198Arg (Ensembl:ENSMUST00000027404) - c.593A>G (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388480212 | 215 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.46) Somatic: No Accession: NC_000067.7:g.75235025G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75235025G>T Locations: - p.Gln215Lys (Ensembl:ENSMUST00000027404) - c.643C>A (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388479339 | 243 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.75234858G>T Codon: CCT/CAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75234858G>T Locations: - p.Pro243His (Ensembl:ENSMUST00000027404) - c.728C>A (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs260482545 | 321 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.62) Somatic: No Accession: NC_000067.7:g.75234624C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75234624C>T Locations: - p.Arg321His (Ensembl:ENSMUST00000027404) - c.962G>A (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs237796604 | 333 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000067.7:g.75234067T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75234067T>A Locations: - p.Glu333Asp (Ensembl:ENSMUST00000027404) - c.999A>T (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs222460465 | 334 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.67) Somatic: No Accession: NC_000067.7:g.75234066A>C Codon: TTG/GTG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75234066A>C Locations: - p.Leu334Val (Ensembl:ENSMUST00000027404) - c.1000T>G (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs239791701 | 340 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000067.7:g.75234048T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75234048T>C Locations: - p.Thr340Ala (Ensembl:ENSMUST00000027404) - c.1018A>G (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388479249 | 348 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.38) Somatic: No Accession: NC_000067.7:g.75234024C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75234024C>T Locations: - p.Val348Ile (Ensembl:ENSMUST00000027404) - c.1042G>A (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388480228 | 350 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000067.7:g.75234017A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75234017A>C Locations: - p.Leu350Arg (Ensembl:ENSMUST00000027404) - c.1049T>G (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388478836 | 352 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000067.7:g.75234012G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 1q Genomic location: NC_000067.7:g.75234012G>A Locations: - p.Gln352Ter (Ensembl:ENSMUST00000027404) - c.1054C>T (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs261997749 | 358 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000067.7:g.75233994A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75233994A>G Locations: - p.Phe358Leu (Ensembl:ENSMUST00000027404) - c.1072T>C (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3390211838 | 370 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000067.7:g.75233958T>A Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 1q Genomic location: NC_000067.7:g.75233958T>A Locations: - p.Lys370Ter (Ensembl:ENSMUST00000027404) - c.1108A>T (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3390191787 | 370 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000067.7:g.75233957T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75233957T>A Locations: - p.Lys370Met (Ensembl:ENSMUST00000027404) - c.1109A>T (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs263792629 | 379 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.54) Somatic: No Accession: NC_000067.7:g.75233519C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75233519C>T Locations: - p.Ala379Thr (Ensembl:ENSMUST00000027404) - c.1135G>A (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388481118 | 386 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000067.7:g.75233498C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75233498C>T Locations: - p.Asp386Asn (Ensembl:ENSMUST00000027404) - c.1156G>A (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs578982843 | 395 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000067.7:g.75232530G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75232530G>T Locations: - p.Gln395Lys (Ensembl:ENSMUST00000027404) - c.1183C>A (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3539385115 | 400 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_000067.7:g.75232514G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75232514G>A Locations: - p.Ala400Val (Ensembl:ENSMUST00000027404) - c.1199C>T (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs230773307 | 415 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000067.7:g.75232469G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75232469G>A Locations: - p.Ala415Val (Ensembl:ENSMUST00000027404) - c.1244C>T (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3390203088 | 418 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000067.7:g.75232460G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75232460G>A Locations: - p.Ala418Val (Ensembl:ENSMUST00000027404) - c.1253C>T (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388480424 | 432 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000067.7:g.75232417T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75232417T>G Locations: - p.Glu432Asp (Ensembl:ENSMUST00000027404) - c.1296A>C (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs264315072 | 437 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000067.7:g.75232404G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75232404G>A Locations: - p.Pro437Ser (Ensembl:ENSMUST00000027404) - c.1309C>T (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs245271964 | 442 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000067.7:g.75232389A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75232389A>T Locations: - p.Ser442Thr (Ensembl:ENSMUST00000027404) - c.1324T>A (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs49182212 | 459 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.43) Somatic: No Accession: NC_000067.7:g.75232338T>A Codon: ACA/TCA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75232338T>A Locations: - p.Thr459Ser (Ensembl:ENSMUST00000027404) - c.1375A>T (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3390144900 | 482 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000067.7:g.75231853G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75231853G>A Locations: - p.Pro482Leu (Ensembl:ENSMUST00000027404) - c.1445C>T (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388478803 | 499 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: NC_000067.7:g.75231803C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75231803C>G Locations: - p.Val499Leu (Ensembl:ENSMUST00000027404) - c.1495G>C (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388479364 | 500 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.75231800G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75231800G>A Locations: - p.His500Tyr (Ensembl:ENSMUST00000027404) - c.1498C>T (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388479242 | 504 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000067.7:g.75231787C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75231787C>T Locations: - p.Gly504Asp (Ensembl:ENSMUST00000027404) - c.1511G>A (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388480353 | 522 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000067.7:g.75231466G>C Codon: CAC/CAG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75231466G>C Locations: - p.His522Gln (Ensembl:ENSMUST00000027404) - c.1566C>G (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3390183527 | 535 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000067.7:g.75231427T>A Codon: CAA/CAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75231427T>A Locations: - p.Gln535His (Ensembl:ENSMUST00000027404) - c.1605A>T (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3390192861 | 535 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000067.7:g.75231428T>A Codon: CAA/CTA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75231428T>A Locations: - p.Gln535Leu (Ensembl:ENSMUST00000027404) - c.1604A>T (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388478787 | 536 | A>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.75231425G>T Codon: GCT/GAT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75231425G>T Locations: - p.Ala536Asp (Ensembl:ENSMUST00000027404) - c.1607C>A (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388479422 | 582 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000067.7:g.75230716T>A Codon: ACT/TCT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75230716T>A Locations: - p.Thr582Ser (Ensembl:ENSMUST00000027404) - c.1744A>T (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388479374 | 589 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000067.7:g.75230695C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75230695C>G Locations: - p.Val589Leu (Ensembl:ENSMUST00000027404) - c.1765G>C (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388480291 | 646 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.75230061C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75230061C>A Locations: - p.Arg646Leu (Ensembl:ENSMUST00000027404) - c.1937G>T (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388481606 | 647 | A>E | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000067.7:g.75230060_75230061insTCCACACTACCTCAACCATCACTCA Codon: CGG/CGTGAGTGATGGTTGAGGTAGTGTGGAG Consequence type: stop gained Cytogenetic band: 1q Genomic location: NC_000067.7:g.75230060_75230061insTCCACACTACCTCAACCATCACTCA Locations: - p.Ala647GlufsTer2 (Ensembl:ENSMUST00000027404) - c.1937_1938insTGAGTGATGGTTGAGGTAGTGTGGA (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388479695 | 650 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000067.7:g.75230048C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75230048C>G Locations: - p.Gln650His (Ensembl:ENSMUST00000027404) - c.1950G>C (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388481740 | 694 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.75229917C>A Codon: GGA/GTA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75229917C>A Locations: - p.Gly694Val (Ensembl:ENSMUST00000027404) - c.2081G>T (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388479386 | 698 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.75229905A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75229905A>G Locations: - p.Leu698Pro (Ensembl:ENSMUST00000027404) - c.2093T>C (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388479307 | 723 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.75229731C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75229731C>A Locations: - p.Ala723Ser (Ensembl:ENSMUST00000027404) - c.2167G>T (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388480474 | 765 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.75229437T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75229437T>A Locations: - p.Asp765Val (Ensembl:ENSMUST00000027404) - c.2294A>T (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3390189885 | 788 | P>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000067.7:g.75229144_75229145insCTGCACTGTCA Codon: -/TGACAGTGCAG Consequence type: stop gained Cytogenetic band: 1q Genomic location: NC_000067.7:g.75229144_75229145insCTGCACTGTCA Locations: - p.Pro788Ter (Ensembl:ENSMUST00000027404) - c.2361_2362insTGACAGTGCAG (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388479791 | 827 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.75228935G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75228935G>A Locations: - p.Pro827Ser (Ensembl:ENSMUST00000027404) - c.2479C>T (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388481080 | 849 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.34) Somatic: No Accession: NC_000067.7:g.75228531C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75228531C>T Locations: - p.Glu849Lys (Ensembl:ENSMUST00000027404) - c.2545G>A (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs32338385 | 861 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000067.7:g.75228495G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75228495G>C Locations: - p.Leu861Val (Ensembl:ENSMUST00000027404) - c.2581C>G (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs48086372 | 884 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000067.7:g.75228426C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75228426C>T Locations: - p.Ala884Thr (Ensembl:ENSMUST00000027404) - c.2650G>A (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388479567 | 885 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.75228423A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75228423A>G Locations: - p.Ser885Pro (Ensembl:ENSMUST00000027404) - c.2653T>C (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388479253 | 908 | I>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000067.7:g.75225383T>A Codon: ATA/TTA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75225383T>A Locations: - p.Ile908Leu (Ensembl:ENSMUST00000027404) - c.2722A>T (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388479222 | 913 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000067.7:g.75224807G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75224807G>C Locations: - p.Asp913Glu (Ensembl:ENSMUST00000027404) - c.2739C>G (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388479293 | 913-914 | DG>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000067.7:g.75224806_75224807insTCCACACTACCTCAACCATCA Codon: -/TGATGGTTGAGGTAGTGTGGA Consequence type: stop gained Cytogenetic band: 1q Genomic location: NC_000067.7:g.75224806_75224807insTCCACACTACCTCAACCATCA Locations: - p.Asp913_Gly914insTer (Ensembl:ENSMUST00000027404) - c.2739_2740insTGATGGTTGAGGTAGTGTGGA (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388480321 | 915 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000067.7:g.75224802G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75224802G>A Locations: - p.Ala915Val (Ensembl:ENSMUST00000027404) - c.2744C>T (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388480248 | 920 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.75224787G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75224787G>T Locations: - p.Thr920Asn (Ensembl:ENSMUST00000027404) - c.2759C>A (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388481129 | 930 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000067.7:g.75224757C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75224757C>T Locations: - p.Arg930His (Ensembl:ENSMUST00000027404) - c.2789G>A (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388480826 | 935 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.75224552C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75224552C>T Locations: - p.Val935Met (Ensembl:ENSMUST00000027404) - c.2803G>A (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388480309 | 949 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.75224509T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75224509T>C Locations: - p.Asp949Gly (Ensembl:ENSMUST00000027404) - c.2846A>G (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3388480384 | 958 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.75224483T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75224483T>C Locations: - p.Lys958Glu (Ensembl:ENSMUST00000027404) - c.2872A>G (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: | |||||||
rs3390191751 | 981 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000067.7:g.75224196C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.75224196C>G Locations: - p.Gln981His (Ensembl:ENSMUST00000027404) - c.2943G>C (Ensembl:ENSMUST00000027404) Source type: large scale study Cross-references: |