Cadherin related family member 1 (CDHR1) Associated conditions: 1. Retinitis pigmentosa
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001171971.3 | NP_001165442.1 | NC_000010.11 | (84194536..84219620) | Reference GRCh38.p14 Primary Assembly | Q96JP9 |
| 2 | REVIEWED | NM_033100.4 | NP_149091.1 | NC_000010.11 | (84194536..84219620) | Reference GRCh38.p14 Primary Assembly | Q96JP9 |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Cadherin related family member 1 (CDHR1) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Cadherin related family member 1 (CDHR1)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | ND | enables | molecular_function | Function | - |
| 2 | Homo sapiens | IEA | enables | calcium ion binding | Function | - |
| 3 | Homo sapiens | ND | is_active_in | cellular_component | Component | - |
| 4 | Homo sapiens | IBA | involved_in | cell adhesion | Process | 21873635 |
| 5 | Homo sapiens | IEA | involved_in | homophilic cell adhesion via plasma membrane adhesion molecules | Process | - |
| 6 | Homo sapiens | IMP | involved_in | photoreceptor cell morphogenesis | Process | 23044944 |
| 7 | Homo sapiens | IMP | involved_in | photoreceptor cell outer segment organization | Process | 23044944 |
| 8 | Homo sapiens | IEA | located_in | photoreceptor outer segment membrane | Component | - |
| 9 | Homo sapiens | IMP | involved_in | photoreceptor cell maintenance | Process | 20805371 |