Q8CGW9 · DMRTD_MOUSE
- ProteinDoublesex- and mab-3-related transcription factor C2
- GeneDmrtc2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids370 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388884555 | 22 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000073.7:g.24571970G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24571970G>C Locations: - p.Ala22Pro (Ensembl:ENSMUST00000011493) - c.64G>C (Ensembl:ENSMUST00000011493) Source type: large scale study Cross-references: | |||||||
rs3388884481 | 41 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000073.7:g.24572028C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24572028C>T Locations: - p.Thr41Ile (Ensembl:ENSMUST00000011493) - c.122C>T (Ensembl:ENSMUST00000011493) Source type: large scale study Cross-references: | |||||||
rs3388887346 | 71 | C>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.24572117T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24572117T>C Locations: - p.Cys71Arg (Ensembl:ENSMUST00000011493) - c.211T>C (Ensembl:ENSMUST00000011493) Source type: large scale study Cross-references: | |||||||
rs3388861810 | 71 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.24572118G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24572118G>A Locations: - p.Cys71Tyr (Ensembl:ENSMUST00000011493) - c.212G>A (Ensembl:ENSMUST00000011493) Source type: large scale study Cross-references: | |||||||
rs3388887323 | 104 | M>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_000073.7:g.24572291T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24572291T>C Locations: - p.Met104Thr (Ensembl:ENSMUST00000011493) - c.311T>C (Ensembl:ENSMUST00000011493) Source type: large scale study Cross-references: | |||||||
rs3397680266 | 117 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.24572331G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24572331G>C Locations: - p.Lys117Asn (Ensembl:ENSMUST00000011493) - c.351G>C (Ensembl:ENSMUST00000011493) Source type: large scale study Cross-references: | |||||||
rs3388868941 | 118 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000073.7:g.24572333A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24572333A>G Locations: - p.Lys118Arg (Ensembl:ENSMUST00000011493) - c.353A>G (Ensembl:ENSMUST00000011493) Source type: large scale study Cross-references: | |||||||
rs3397521728 | 120 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000073.7:g.24572338G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24572338G>T Locations: - p.Ala120Ser (Ensembl:ENSMUST00000011493) - c.358G>T (Ensembl:ENSMUST00000011493) Source type: large scale study Cross-references: | |||||||
rs3388884712 | 135 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000073.7:g.24573372G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24573372G>T Locations: - p.Gln135His (Ensembl:ENSMUST00000011493) - c.405G>T (Ensembl:ENSMUST00000011493) Source type: large scale study Cross-references: | |||||||
rs3388882074 | 139 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_000073.7:g.24573382C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24573382C>T Locations: - p.Pro139Ser (Ensembl:ENSMUST00000011493) - c.415C>T (Ensembl:ENSMUST00000011493) Source type: large scale study Cross-references: | |||||||
rs3388887318 | 186 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000073.7:g.24573723C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24573723C>A Locations: - p.Pro186His (Ensembl:ENSMUST00000011493) - c.557C>A (Ensembl:ENSMUST00000011493) Source type: large scale study Cross-references: | |||||||
rs3388889382 | 191 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000073.7:g.24573737A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24573737A>T Locations: - p.Met191Leu (Ensembl:ENSMUST00000011493) - c.571A>T (Ensembl:ENSMUST00000011493) Source type: large scale study Cross-references: | |||||||
rs3388889464 | 195 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000073.7:g.24573749G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24573749G>A Locations: - p.Val195Met (Ensembl:ENSMUST00000011493) - c.583G>A (Ensembl:ENSMUST00000011493) Source type: large scale study Cross-references: | |||||||
rs1134583380 | 198 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000073.7:g.24573758C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24573758C>A Locations: - p.Arg198Ser (Ensembl:ENSMUST00000011493) - c.592C>A (Ensembl:ENSMUST00000011493) Source type: large scale study Cross-references: | |||||||
rs3388893027 | 245 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000073.7:g.24574428A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24574428A>G Locations: - p.Glu245Gly (Ensembl:ENSMUST00000011493) - c.734A>G (Ensembl:ENSMUST00000011493) Source type: large scale study Cross-references: | |||||||
rs3388887329 | 255 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000073.7:g.24574458C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24574458C>T Locations: - p.Thr255Ile (Ensembl:ENSMUST00000011493) - c.764C>T (Ensembl:ENSMUST00000011493) Source type: large scale study Cross-references: | |||||||
rs3388868876 | 368 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000073.7:g.24576679C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.24576679C>T Locations: - p.Leu368Phe (Ensembl:ENSMUST00000011493) - c.1102C>T (Ensembl:ENSMUST00000011493) Source type: large scale study Cross-references: |