Description
retinitis pigmentosa 9 (autosomal dominant) [Source:HGNC Symbol;Acc:10288]
Gene Synonyms
PAP-1
Location
Chromosome 7: 33,134,409-33,149,013 reverse strand.
GRCh37:CM000669.1
About this gene
This gene has 4 transcripts (splice variants), 69 orthologues and is associated with 3 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000297157.3 | RP9-001 | 1121 | 221aa | ENSP00000297157.3 | Protein coding | CCDS5440 | Q8TA86 | NM_203288.1 | Ensembl Canonical, GENCODE Basic, |
| ENST00000448915.1 | RP9-004 | 629 | 166aa | ENSP00000411577.1 | Protein coding | C9J6V2 | - | CDS 3' incomplete, | |
| ENST00000474370.1 | RP9-003 | 535 | No protein | - | Retained intron | - | - | - | |
| ENST00000492391.1 | RP9-002 | 532 | No protein | - | Retained intron | - | - | - |

