P97490 · ADCY8_MOUSE
- ProteinAdenylate cyclase type 8
- GeneAdcy8
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1249 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389353286 | 32 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.64792860C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64792860C>A Locations: - p.Arg32Leu (Ensembl:ENSMUST00000023007) - c.95G>T (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389353301 | 34 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000081.7:g.64792855G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 15q Genomic location: NC_000081.7:g.64792855G>A Locations: - p.Gln34Ter (Ensembl:ENSMUST00000023007) - c.100C>T (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389353244 | 121 | G>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000081.7:g.64792594_64792595insTCCACACTACCTCAACCATCACTCA Codon: -/TGAGTGATGGTTGAGGTAGTGTGGA Consequence type: stop gained Cytogenetic band: 15q Genomic location: NC_000081.7:g.64792594_64792595insTCCACACTACCTCAACCATCACTCA Locations: - p.Gly121Ter (Ensembl:ENSMUST00000023007) - c.360_361insTGAGTGATGGTTGAGGTAGTGTGGA (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389370036 | 152 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.69) Somatic: No Accession: NC_000081.7:g.64792501A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64792501A>G Locations: - p.Phe152Leu (Ensembl:ENSMUST00000023007) - c.454T>C (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389371994 | 154 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.64792494G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64792494G>T Locations: - p.Thr154Asn (Ensembl:ENSMUST00000023007) - c.461C>A (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389365202 | 171 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: NC_000081.7:g.64792443T>A Codon: TAT/TTT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64792443T>A Locations: - p.Tyr171Phe (Ensembl:ENSMUST00000023007) - c.512A>T (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389326130 | 212 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.46) Somatic: No Accession: NC_000081.7:g.64792321T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64792321T>A Locations: - p.Ile212Phe (Ensembl:ENSMUST00000023007) - c.634A>T (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389369998 | 215 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000081.7:g.64792312C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64792312C>A Locations: - p.Gly215Cys (Ensembl:ENSMUST00000023007) - c.643G>T (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389372069 | 218 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_000081.7:g.64792303T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64792303T>C Locations: - p.Thr218Ala (Ensembl:ENSMUST00000023007) - c.652A>G (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389378667 | 218 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000081.7:g.64792302G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64792302G>A Locations: - p.Thr218Ile (Ensembl:ENSMUST00000023007) - c.653C>T (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389370049 | 229 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.64792269A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64792269A>T Locations: - p.Val229Glu (Ensembl:ENSMUST00000023007) - c.686T>A (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389315436 | 233 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000081.7:g.64792257T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64792257T>A Locations: - p.Asp233Val (Ensembl:ENSMUST00000023007) - c.698A>T (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389372055 | 251 | M>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000081.7:g.64792203A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64792203A>G Locations: - p.Met251Thr (Ensembl:ENSMUST00000023007) - c.752T>C (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3405667716 | 258 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.64792182G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64792182G>A Locations: - p.Ala258Val (Ensembl:ENSMUST00000023007) - c.773C>T (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389361868 | 270 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000081.7:g.64792146C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64792146C>G Locations: - p.Gly270Ala (Ensembl:ENSMUST00000023007) - c.809G>C (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389333072 | 298 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.64792062G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64792062G>A Locations: - p.Ser298Phe (Ensembl:ENSMUST00000023007) - c.893C>T (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3406163573 | 305 | Q>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.96) Somatic: No Accession: NC_000081.7:g.64792042G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64792042G>C Locations: - p.Gln305Glu (Ensembl:ENSMUST00000023007) - c.913C>G (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3406176477 | 311 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: NC_000081.7:g.64792023A>G Codon: CTA/CCA Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64792023A>G Locations: - p.Leu311Pro (Ensembl:ENSMUST00000023007) - c.932T>C (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs16791446 | 312 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.5) Somatic: No Accession: NC_000081.7:g.64792021C>A Codon: GCG/TCG Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64792021C>A Locations: - p.Ala312Ser (Ensembl:ENSMUST00000023007) - c.934G>T (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389378719 | 322 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000081.7:g.64743643G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 15q Genomic location: NC_000081.7:g.64743643G>A Locations: - p.Gln322Ter (Ensembl:ENSMUST00000023007) - c.964C>T (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3551734969 | 372 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000081.7:g.64694162C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64694162C>A Locations: - p.Val372Leu (Ensembl:ENSMUST00000023007) - c.1114G>T (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389361445 | 388 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000081.7:g.64694112C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64694112C>T Locations: - p.Met388Ile (Ensembl:ENSMUST00000023007) - c.1164G>A (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389315441 | 403 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.64694069T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64694069T>A Locations: - p.Ile403Phe (Ensembl:ENSMUST00000023007) - c.1207A>T (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389284600 | 410 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.64694047T>A Codon: AAC/ATC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64694047T>A Locations: - p.Asn410Ile (Ensembl:ENSMUST00000023007) - c.1229A>T (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389361355 | 422 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.64687238G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64687238G>A Locations: - p.Thr422Ile (Ensembl:ENSMUST00000023007) - c.1265C>T (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389315471 | 435 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000081.7:g.64687200T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64687200T>C Locations: - p.Arg435Gly (Ensembl:ENSMUST00000023007) - c.1303A>G (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3406073469 | 449-450 | HE>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000081.7:g.64678606_64678607insTTCAGGAGCATCACT Codon: -/TGATGCTCCTGAAAG Consequence type: stop gained Cytogenetic band: 15q Genomic location: NC_000081.7:g.64678606_64678607insTTCAGGAGCATCACT Locations: - p.His449_Glu450insTer (Ensembl:ENSMUST00000023007) - c.1348-1_1348insTGATGCTCCTGAAAG (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389332885 | 509 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000081.7:g.64659263T>A Codon: CAT/CTT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64659263T>A Locations: - p.His509Leu (Ensembl:ENSMUST00000023007) - c.1526A>T (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389378675 | 549 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.64655832A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64655832A>G Locations: - p.Ile549Thr (Ensembl:ENSMUST00000023007) - c.1646T>C (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs232808560 | 594 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.51) Somatic: No Accession: NC_000081.7:g.64655697C>G Codon: TGC/TCC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64655697C>G Locations: - p.Cys594Ser (Ensembl:ENSMUST00000023007) - c.1781G>C (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs16791530 | 614 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.49) Somatic: No Accession: NC_000081.7:g.64655638C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64655638C>T Locations: - p.Ala614Thr (Ensembl:ENSMUST00000023007) - c.1840G>A (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389315411 | 675 | L>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000081.7:g.64639735A>T Codon: TTG/TAG Consequence type: stop gained Cytogenetic band: 15q Genomic location: NC_000081.7:g.64639735A>T Locations: - p.Leu675Ter (Ensembl:ENSMUST00000023007) - c.2024T>A (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389315393 | 687 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000081.7:g.64639700T>A Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 15q Genomic location: NC_000081.7:g.64639700T>A Locations: - p.Lys687Ter (Ensembl:ENSMUST00000023007) - c.2059A>T (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389284652 | 730 | L>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.64626648A>G Codon: TTG/TCG Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64626648A>G Locations: - p.Leu730Ser (Ensembl:ENSMUST00000023007) - c.2189T>C (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389357779 | 733 | S>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.97) Somatic: No Accession: NC_000081.7:g.64626640A>C Codon: TCT/GCT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64626640A>C Locations: - p.Ser733Ala (Ensembl:ENSMUST00000023007) - c.2197T>G (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389365175 | 781 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000081.7:g.64618810A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64618810A>G Locations: - p.Leu781Pro (Ensembl:ENSMUST00000023007) - c.2342T>C (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389326213 | 788 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000081.7:g.64618790A>T Codon: TTC/ATC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64618790A>T Locations: - p.Phe788Ile (Ensembl:ENSMUST00000023007) - c.2362T>A (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389365353 | 796 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000081.7:g.64618765A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64618765A>T Locations: - p.Leu796Gln (Ensembl:ENSMUST00000023007) - c.2387T>A (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389359328 | 797 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.4) Somatic: No Accession: NC_000081.7:g.64618762C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64618762C>T Locations: - p.Gly797Glu (Ensembl:ENSMUST00000023007) - c.2390G>A (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389343315 | 811 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.64) Somatic: No Accession: NC_000081.7:g.64616754A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64616754A>G Locations: - p.Ile811Thr (Ensembl:ENSMUST00000023007) - c.2432T>C (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389369984 | 813 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.87) Somatic: No Accession: NC_000081.7:g.64616747C>A Codon: TTG/TTT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64616747C>A Locations: - p.Leu813Phe (Ensembl:ENSMUST00000023007) - c.2439G>T (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389284588 | 842 | M>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.64609383A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64609383A>G Locations: - p.Met842Thr (Ensembl:ENSMUST00000023007) - c.2525T>C (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389353245 | 844 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000081.7:g.64609378T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64609378T>A Locations: - p.Thr844Ser (Ensembl:ENSMUST00000023007) - c.2530A>T (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389371998 | 875 | Y>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000081.7:g.64609285A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64609285A>G Locations: - p.Tyr875His (Ensembl:ENSMUST00000023007) - c.2623T>C (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389359310 | 876 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.6) Somatic: No Accession: NC_000081.7:g.64609282C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64609282C>T Locations: - p.Ala876Thr (Ensembl:ENSMUST00000023007) - c.2626G>A (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389365130 | 888 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000081.7:g.64609245C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64609245C>A Locations: - p.Ser888Ile (Ensembl:ENSMUST00000023007) - c.2663G>T (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3406215083 | 946 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.64587948C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64587948C>A Locations: - p.Glu946Asp (Ensembl:ENSMUST00000023007) - c.2838G>T (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3406299674 | 946 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.64587949T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64587949T>C Locations: - p.Glu946Gly (Ensembl:ENSMUST00000023007) - c.2837A>G (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3405666630 | 947 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: NC_000081.7:g.64587945G>C Codon: AAC/AAG Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64587945G>C Locations: - p.Asn947Lys (Ensembl:ENSMUST00000023007) - c.2841C>G (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3406299684 | 948 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.64587942C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64587942C>T Locations: - p.Met948Ile (Ensembl:ENSMUST00000023007) - c.2844G>A (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3551752408 | 953 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.64587927T>G Codon: TTA/TTC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64587927T>G Locations: - p.Leu953Phe (Ensembl:ENSMUST00000023007) - c.2859A>C (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3389343292 | 981 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.64576619A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64576619A>T Locations: - p.Val981Glu (Ensembl:ENSMUST00000023007) - c.2942T>A (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3406377112 | 1169 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_000081.7:g.64571227G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64571227G>T Locations: - p.Leu1169Met (Ensembl:ENSMUST00000023007) - c.3505C>A (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: | |||||||
rs3508082316 | 1181 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000081.7:g.64571190G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.64571190G>A Locations: - p.Pro1181Leu (Ensembl:ENSMUST00000023007) - c.3542C>T (Ensembl:ENSMUST00000023007) Source type: large scale study Cross-references: |