Description
Niemann-Pick disease, type C2
Synonyms
NP-C2, EDDM1, HE1
Location
Chromosome 14: 74,476,192-74,494,177 reverse strand.
VEGA68:CM000676.2
About this gene
This gene has 9 transcripts (splice variants).
Transcripts
| Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt | Flags |
|---|---|---|---|---|---|---|---|---|
| NPC2-001 | OTTHUMT00000412346.1 | 1035 | 151aa | OTTHUMP00000245453 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS32121 | A0A024R6C0 | |
| NPC2-002 | OTTHUMT00000412345.1 | 1436 | 125aa | OTTHUMP00000245452 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | |
| NPC2-007 | OTTHUMT00000412351.1 | 1029 | 174aa | OTTHUMP00000245458 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | G3V3E8 | |
| NPC2-003 | OTTHUMT00000412344.1 | 875 | 201aa | OTTHUMP00000245451 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | E7EMS2 | |
| NPC2-008 | OTTHUMT00000412348.1 | 796 | 148aa | OTTHUMP00000245455 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | J3KMY5 | |
| NPC2-006 | OTTHUMT00000412349.2 | 729 | 221aa | OTTHUMP00000245456 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | G3V3D1 | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
| NPC2-004 | OTTHUMT00000412350.1 | 699 | 173aa | OTTHUMP00000245457 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | H0YIZ1 | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
| NPC2-005 | OTTHUMT00000412352.2 | 469 | 122aa | OTTHUMP00000245459 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | G3V2V8 | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
| NPC2-009 | OTTHUMT00000412347.1 | 583 | 53aa | OTTHUMP00000245454 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
