Human (GRCh37.p13)
Description

Norrie disease (pseudoglioma) [Source:HGNC Symbol;Acc:7678]

Gene Synonyms

EVR2, FEVR, ND, norrin

Location
About this transcript

This transcript has 3 exons, is annotated with 11 domains and features, is associated with 8299 variant alleles and maps to 345 oligo probes.

Gene
Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000378062.5NDP-0011833133aaENSP00000367301.5
 
Protein coding
CCDS14262Q00604 NM_000266.3GENCODE basic
ENST00000470584.1NDP-002563No protein-
 
Processed transcript
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Statistics

Exons: 3, Coding exons: 2, Transcript length: 1,833 bps, Translation length: 133 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q00604

CCDS

This transcript is a member of the Human CCDS set: CCDS14262

Version

ENST00000378062.5

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:
OTTHUMT00000056309 (version 1)
GENCODE basic gene

This transcript is a member of the Gencode basic gene set.