Human (GRCh37.p13)
Description

Niemann-Pick disease, type C2 [Source:HGNC Symbol;Acc:14537]

Gene Synonyms

EDDM1, HE1, NP-C2

Location
About this transcript

This transcript has 5 exons, is annotated with 6 domains and features, is associated with 5904 variant alleles and maps to 297 oligo probes.

Gene
Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000541064.1NPC2-0021436125aaENSP00000442488.1
 
Protein coding
B4DQV7 G3V2V8 -GENCODE basic
ENST00000555619.1NPC2-0011035151aaENSP00000451112.1
 
Protein coding
CCDS32121P61916 NM_006432.3GENCODE basic
ENST00000557510.1NPC2-0071029174aaENSP00000451206.1
 
Protein coding
G3V3E8 -GENCODE basic
ENST00000434013.2NPC2-003875201aaENSP00000412103.2
 
Protein coding
E7EMS2 -GENCODE basic
ENST00000238633.2NPC2-008796148aaENSP00000238633.2
 
Protein coding
J3KMY5 -GENCODE basic
ENST00000553490.1NPC2-006729221aaENSP00000451180.1
 
Protein coding
G3V3D1 -CDS 3' incomplete
ENST00000556009.1NPC2-004699173aaENSP00000450502.1
 
Protein coding
--CDS 5' incomplete
ENST00000555592.1NPC2-005469122aaENSP00000450887.1
 
Protein coding
G3V2V8 -CDS 3' incomplete
ENST00000554482.1NPC2-00958353aaENSP00000451314.1
 
Nonsense mediated decay
H0YJE2 -CDS 5' incomplete
Statistics

Exons: 5, Coding exons: 5, Transcript length: 699 bps, Translation length: 173 residues

Incomplete CDS

CDS 5' incomplete

Version

ENST00000556009.1

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:
OTTHUMT00000412350 (version 1)