O35889 · AFAD_RAT
- ProteinAfadin
- GeneAfdn
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1829 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3318886603 | 5 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_051336.1:g.53905484G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 1chr Genomic location: NC_051336.1:g.53905484G>C Locations: - p.Gly5Arg (Ensembl:ENSRNOT00000106034) - c.13G>C (Ensembl:ENSRNOT00000106034) Source type: large scale study Cross-references: | |||||||
rs3318896916 | 1468 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_051336.1:g.54016618A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 1chr Genomic location: NC_051336.1:g.54016618A>G Locations: - p.Lys1468Arg (Ensembl:ENSRNOT00000106034) - c.4403A>G (Ensembl:ENSRNOT00000106034) Source type: large scale study Cross-references: | |||||||
rs3318886630 | 1470 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_051336.1:g.54016624A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 1chr Genomic location: NC_051336.1:g.54016624A>G Locations: - p.Glu1470Gly (Ensembl:ENSRNOT00000106034) - c.4409A>G (Ensembl:ENSRNOT00000106034) Source type: large scale study Cross-references: | |||||||
rs3318894425 | 1479 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_051336.1:g.54016650C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 1chr Genomic location: NC_051336.1:g.54016650C>T Locations: - p.Gln1479Ter (Ensembl:ENSRNOT00000106034) - c.4435C>T (Ensembl:ENSRNOT00000106034) Source type: large scale study Cross-references: | |||||||
rs3318898874 | 1742 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_051336.1:g.54027888T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 1chr Genomic location: NC_051336.1:g.54027888T>G Locations: - p.Asp1742Glu (Ensembl:ENSRNOT00000106034) - c.5226T>G (Ensembl:ENSRNOT00000106034) Source type: large scale study Cross-references: |