Bardet-Biedl syndrome 12 (BBS12) Associated conditions: 1. Retinitis pigmentosa 2. Bardet-Biedl syndrome
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001178007.2 | NP_001171478.1 | NC_000004.12 | (122700441..122744938) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_152618.3 | NP_689831.2 | NC_000004.12 | (122700441..122744938) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | XR_007096378.1 | - | NC_000004.12 | (122700441..122744938) | Reference GRCh38.p14 Primary Assembly | - |
| 4 | REVIEWED | XR_007096379.1 | - | NC_000004.12 | (122700441..122744938) | Reference GRCh38.p14 Primary Assembly | - |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Bardet-Biedl syndrome 12 (BBS12) Mutation Visualization Dashboard: Pathogenic variant distribution chart
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IPI | enables | protein binding | Function | 20080638 22500027 26900326 28514442 33961781 |
| 2 | Homo sapiens | IEA | enables | ATP binding | Function | - |
| 3 | Homo sapiens | IEA | located_in | cilium | Component | - |
| 4 | Homo sapiens | IBA | involved_in | photoreceptor cell maintenance | Process | - |
| 5 | Homo sapiens | IMP | acts_upstream_of_or_within | negative regulation of fat cell differentiation | Process | 22958920 |
| 6 | Homo sapiens | IBA | involved_in | chaperone-mediated protein complex assembly | Process | - |
| 7 | Homo sapiens | IEA | involved_in | chaperone-mediated protein complex assembly | Process | - |
| 8 | Homo sapiens | IMP | acts_upstream_of_or_within | chaperone-mediated protein complex assembly | Process | 20080638 |