A0A286ZIV6 · A0A286ZIV6_PIG
- ProteinPhosphodiesterase
- GenePDE1C
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids704 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs345051243 | 15 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_010460.4:g.40916290C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: Genomic location: NC_010460.4:g.40916290C>T Locations: - p.Arg15Trp (Ensembl:ENSSSCT00000039072) - c.43C>T (Ensembl:ENSSSCT00000039072) Source type: large scale study Cross-references: | |||||||
rs324114587 | 43 | R>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_010460.4:g.41001753C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: Genomic location: NC_010460.4:g.41001753C>T Locations: - p.Arg43Cys (Ensembl:ENSSSCT00000039072) - c.127C>T (Ensembl:ENSSSCT00000039072) Source type: large scale study Cross-references: | |||||||
rs699339656 | 241 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_010460.4:g.41308591C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NC_010460.4:g.41308591C>A Locations: - p.Arg241Ser (Ensembl:ENSSSCT00000039072) - c.721C>A (Ensembl:ENSSSCT00000039072) Source type: large scale study Cross-references: | |||||||
rs692367695 | 409 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_010460.4:g.41329804G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: Genomic location: NC_010460.4:g.41329804G>T Locations: - p.Glu409Ter (Ensembl:ENSSSCT00000039072) - c.1225G>T (Ensembl:ENSSSCT00000039072) Source type: large scale study Cross-references: | |||||||
rs3470096948 | 547 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_010460.4:g.41345247G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: Genomic location: NC_010460.4:g.41345247G>A Locations: - p.Val547Ile (Ensembl:ENSSSCT00000039072) - c.1639G>A (Ensembl:ENSSSCT00000039072) Source type: large scale study Cross-references: | |||||||
rs81280474 | 635 | H>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.82) Somatic: No Accession: NC_010460.4:g.41354167A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: Genomic location: NC_010460.4:g.41354167A>G Locations: - p.His635Arg (Ensembl:ENSSSCT00000039072) - c.1904A>G (Ensembl:ENSSSCT00000039072) Source type: large scale study Cross-references: | |||||||
rs712131186 | 654 | L>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_010460.4:g.41361303T>A Codon: TTG/TAG Consequence type: stop gained Cytogenetic band: Genomic location: NC_010460.4:g.41361303T>A Locations: - p.Leu654Ter (Ensembl:ENSSSCT00000039072) - c.1961T>A (Ensembl:ENSSSCT00000039072) Source type: large scale study Cross-references: | |||||||
rs322590318 | 668 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.69) Somatic: No Accession: NC_010460.4:g.41361345A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: Genomic location: NC_010460.4:g.41361345A>G Locations: - p.Asn668Ser (Ensembl:ENSSSCT00000039072) - c.2003A>G (Ensembl:ENSSSCT00000039072) Source type: large scale study Cross-references: | |||||||
rs343441923 | 696 | C>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_010460.4:g.41391236T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: Genomic location: NC_010460.4:g.41391236T>C Locations: - p.Cys696Arg (Ensembl:ENSSSCT00000039072) - c.2086T>C (Ensembl:ENSSSCT00000039072) Source type: large scale study Cross-references: |