Summary
SequenceProtein InformationProtein summaryDomains & featuresVariantsPDB 3D protein modelAlphaFold predicted modelGenetic VariationVariant tableVariant imageHaplotypesPopulation comparisonComparison imageExternal ReferencesSupporting evidenceID History.
peripherin 2 (retinal degeneration, slow) [Source:HGNC Symbol;Acc:9942]
AOFMD, AVMD, CACD2, DS, PRPH, RDS, RP7, TSPAN22, rd2
Chromosome 6: 42,664,340-42,690,312 reverse strand.
This transcript has 3 exons, is annotated with 16 domains and features, is associated with 12687 variant alleles and maps to 341 oligo probes.
This transcript is a product of gene ENSG00000112619.6 Show transcript tableHide transcript table
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Exons: 3, Coding exons: 3, Transcript length: 2,974 bps, Translation length: 346 residues
This transcript corresponds to the following Uniprot identifiers: P23942
This transcript is a member of the Human CCDS set: CCDS4871
ENST00000230381.5
Protein coding
Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.
This transcript corresponds to the following database identifiers:
| Transcript having exact match between ENSEMBL and HAVANA: |
OTTHUMT00000040556 (version 1) |
|---|
This transcript is a member of the Gencode basic gene set.
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