A0A0G2JGX4 · A0A0G2JGX4_MOUSE
- ProteinSodium/potassium-transporting ATPase subunit alpha
- GeneAtp1a3
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids1026 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388882078 | 8 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000073.7:g.24700606C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24700606C>A Locations: - p.Ser8Ile (Ensembl:ENSMUST00000196684) - c.23G>T (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388849146 | 29 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000073.7:g.24700544C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24700544C>T Locations: - p.Ala29Thr (Ensembl:ENSMUST00000196684) - c.85G>A (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388889388 | 30 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000073.7:g.24700539T>G Codon: AAA/AAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24700539T>G Locations: - p.Lys30Asn (Ensembl:ENSMUST00000196684) - c.90A>C (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388884464 | 97 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24700109G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24700109G>A Locations: - p.Arg97Trp (Ensembl:ENSMUST00000196684) - c.289C>T (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388887307 | 110 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24700070C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24700070C>T Locations: - p.Gly110Arg (Ensembl:ENSMUST00000196684) - c.328G>A (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388849202 | 115 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000073.7:g.24700054A>T Codon: TTC/TAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24700054A>T Locations: - p.Phe115Tyr (Ensembl:ENSMUST00000196684) - c.344T>A (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs252854186 | 130 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000073.7:g.24700010C>G Codon: GGT/CGT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24700010C>G Locations: - p.Gly130Arg (Ensembl:ENSMUST00000196684) - c.388G>C (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388893037 | 172 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24698230C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24698230C>T Locations: - p.Ala172Thr (Ensembl:ENSMUST00000196684) - c.514G>A (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388868919 | 180 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24698205T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24698205T>C Locations: - p.Lys180Arg (Ensembl:ENSMUST00000196684) - c.539A>G (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3397649946 | 182 | Q>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24698200G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24698200G>C Locations: - p.Gln182Glu (Ensembl:ENSMUST00000196684) - c.544C>G (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388891176 | 193 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24698167G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24698167G>T Locations: - p.Leu193Met (Ensembl:ENSMUST00000196684) - c.577C>A (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3397672935 | 214 | C>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24698102G>C Codon: TGC/TGG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24698102G>C Locations: - p.Cys214Trp (Ensembl:ENSMUST00000196684) - c.642C>G (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3397279303 | 215 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24698099C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24698099C>G Locations: - p.Lys215Asn (Ensembl:ENSMUST00000196684) - c.645G>C (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388891136 | 270 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000073.7:g.24696779C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24696779C>T Locations: - p.Met270Ile (Ensembl:ENSMUST00000196684) - c.810G>A (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388876731 | 273 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24696771A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24696771A>G Locations: - p.Ile273Thr (Ensembl:ENSMUST00000196684) - c.818T>C (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388888369 | 277 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24696759G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24696759G>A Locations: - p.Ala277Val (Ensembl:ENSMUST00000196684) - c.830C>T (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388889455 | 296 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000073.7:g.24696702T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24696702T>C Locations: - p.Gln296Arg (Ensembl:ENSMUST00000196684) - c.887A>G (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388872072 | 301 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24696688C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24696688C>T Locations: - p.Val301Met (Ensembl:ENSMUST00000196684) - c.901G>A (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388882098 | 303 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24696682C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24696682C>G Locations: - p.Val303Leu (Ensembl:ENSMUST00000196684) - c.907G>C (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388890805 | 326 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24696612A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24696612A>G Locations: - p.Phe326Ser (Ensembl:ENSMUST00000196684) - c.977T>C (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388890771 | 361 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24694111C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24694111C>T Locations: - p.Val361Met (Ensembl:ENSMUST00000196684) - c.1081G>A (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388876743 | 365 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24694099C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24694099C>T Locations: - p.Glu365Lys (Ensembl:ENSMUST00000196684) - c.1093G>A (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388890813 | 372 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24694077G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24694077G>A Locations: - p.Ser372Phe (Ensembl:ENSMUST00000196684) - c.1115C>T (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388849163 | 386 | Q>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24694036G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24694036G>C Locations: - p.Gln386Glu (Ensembl:ENSMUST00000196684) - c.1156C>G (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388879273 | 398 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24693998G>C Codon: AAC/AAG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24693998G>C Locations: - p.Asn398Lys (Ensembl:ENSMUST00000196684) - c.1194C>G (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388876786 | 399 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000073.7:g.24693997G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 7q Genomic location: NC_000073.7:g.24693997G>A Locations: - p.Gln399Ter (Ensembl:ENSMUST00000196684) - c.1195C>T (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3411110614 | 404 | D>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24693981T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24693981T>G Locations: - p.Asp404Ala (Ensembl:ENSMUST00000196684) - c.1211A>C (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388888352 | 407 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000073.7:g.24693973C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 7q Genomic location: NC_000073.7:g.24693973C>A Locations: - p.Glu407Ter (Ensembl:ENSMUST00000196684) - c.1219G>T (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388889459 | 440 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24693796C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24693796C>A Locations: - p.Gln440His (Ensembl:ENSMUST00000196684) - c.1320G>T (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388882081 | 471 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000073.7:g.24693622T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24693622T>C Locations: - p.Lys471Glu (Ensembl:ENSMUST00000196684) - c.1411A>G (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388882100 | 516 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24689910C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24689910C>T Locations: - p.Arg516His (Ensembl:ENSMUST00000196684) - c.1547G>A (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388889318 | 523 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000073.7:g.24689889G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24689889G>T Locations: - p.Thr523Asn (Ensembl:ENSMUST00000196684) - c.1568C>A (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388884482 | 549 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24689812C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24689812C>T Locations: - p.Gly549Ser (Ensembl:ENSMUST00000196684) - c.1645G>A (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388888392 | 576 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24689332C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24689332C>T Locations: - p.Cys576Tyr (Ensembl:ENSMUST00000196684) - c.1727G>A (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3412845499 | 608 | K>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24689237T>G Codon: AAA/CAA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24689237T>G Locations: - p.Lys608Gln (Ensembl:ENSMUST00000196684) - c.1822A>C (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388882129 | 613 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24689222C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24689222C>T Locations: - p.Gly613Ser (Ensembl:ENSMUST00000196684) - c.1837G>A (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388882044 | 697 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24687446G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24687446G>A Locations: - p.Ser697Phe (Ensembl:ENSMUST00000196684) - c.2090C>T (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3413117351 | 700 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000073.7:g.24687438G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 7q Genomic location: NC_000073.7:g.24687438G>A Locations: - p.Gln700Ter (Ensembl:ENSMUST00000196684) - c.2098C>T (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388884531 | 710 | R>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24687407C>A Codon: AGA/ATA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24687407C>A Locations: - p.Arg710Ile (Ensembl:ENSMUST00000196684) - c.2129G>T (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388891143 | 724 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24686991T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24686991T>A Locations: - p.Asp724Val (Ensembl:ENSMUST00000196684) - c.2171A>T (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388884731 | 730 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000073.7:g.24686973T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24686973T>C Locations: - p.Lys730Arg (Ensembl:ENSMUST00000196684) - c.2189A>G (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs1133316247 | 748 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24686919G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24686919G>A Locations: - p.Ala748Val (Ensembl:ENSMUST00000196684) - c.2243C>T (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388884703 | 757 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24686892T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24686892T>C Locations: - p.Asn757Ser (Ensembl:ENSMUST00000196684) - c.2270A>G (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388868937 | 763 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24686874G>C Codon: ACT/AGT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24686874G>C Locations: - p.Thr763Ser (Ensembl:ENSMUST00000196684) - c.2288C>G (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388884506 | 764 | G>DG* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000073.7:g.24686871_24686872insTACCTCAACCAT Codon: GGT/GATGGTTGAGGTAGT Consequence type: stop gained Cytogenetic band: 7q Genomic location: NC_000073.7:g.24686871_24686872insTACCTCAACCAT Locations: - p.Gly764delinsAspGlyTer (Ensembl:ENSMUST00000196684) - c.2290_2291insATGGTTGAGGTA (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388884545 | 804 | P>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24681213G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24681213G>C Locations: - p.Pro804Arg (Ensembl:ENSMUST00000196684) - c.2411C>G (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3397745965 | 812 | C>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24681189C>A Codon: TGC/TTC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24681189C>A Locations: - p.Cys812Phe (Ensembl:ENSMUST00000196684) - c.2435G>T (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388876711 | 837 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24681015C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24681015C>T Locations: - p.Arg837Lys (Ensembl:ENSMUST00000196684) - c.2510G>A (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388891149 | 843 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000073.7:g.24680998G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24680998G>C Locations: - p.Arg843Gly (Ensembl:ENSMUST00000196684) - c.2527C>G (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388872102 | 885 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.43) Somatic: No Accession: NC_000073.7:g.24680048G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24680048G>T Locations: - p.Asn885Lys (Ensembl:ENSMUST00000196684) - c.2655C>A (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388882120 | 905 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000073.7:g.24679988A>T Codon: TAT/TAA Consequence type: stop gained Cytogenetic band: 7q Genomic location: NC_000073.7:g.24679988A>T Locations: - p.Tyr905Ter (Ensembl:ENSMUST00000196684) - c.2715T>A (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388893029 | 935 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24679489G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24679489G>A Locations: - p.Ala935Val (Ensembl:ENSMUST00000196684) - c.2804C>T (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3397649966 | 954 | N>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24678820T>G Codon: AAT/CAT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24678820T>G Locations: - p.Asn954His (Ensembl:ENSMUST00000196684) - c.2860A>C (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3396906928 | 954 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24678818A>C Codon: AAT/AAG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24678818A>C Locations: - p.Asn954Lys (Ensembl:ENSMUST00000196684) - c.2862T>G (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3397745991 | 954 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24678819T>G Codon: AAT/ACT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24678819T>G Locations: - p.Asn954Thr (Ensembl:ENSMUST00000196684) - c.2861A>C (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388879303 | 960 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24678802C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24678802C>T Locations: - p.Gly960Ser (Ensembl:ENSMUST00000196684) - c.2878G>A (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388884676 | 1004 | Y>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000073.7:g.24678380T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24678380T>C Locations: - p.Tyr1004Cys (Ensembl:ENSMUST00000196684) - c.3011A>G (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: | |||||||
rs3388887305 | 1023 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.24677987C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24677987C>T Locations: - p.Glu1023Lys (Ensembl:ENSMUST00000196684) - c.3067G>A (Ensembl:ENSMUST00000196684) Source type: large scale study Cross-references: |