Niemann-Pick disease, type C1 [Source:NCBI gene (formerly Entrezgene);Acc:553330]
Chromosome 2: 3,823,813-3,866,971 forward strand.
GRCz11:CM002886.2
This gene has 3 transcripts (splice variants), 209 orthologues, 12 paralogues and is associated with 92 phenotypes.
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | UniProt Match | Flags |
|---|---|---|---|---|---|---|---|
| ENSDART00000185408.1 | npc1-203 | 3834 | 1277aa | ENSDARP00000144951.1 | Protein coding | A0A2R8Q2J0 | Ensembl Canonical, APPRIS P4, |
| ENSDART00000103596.6 | npc1-201 | 5008 | 1276aa | ENSDARP00000094372.4 | Protein coding | F1QNG7 | APPRIS ALT2, |
| ENSDART00000161880.2 | npc1-202 | 4994 | 1271aa | ENSDARP00000141736.2 | Protein coding | A0A0R4IZV0 | APPRIS ALT2, |

