Human (GRCh37.p13)
Description

optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) [Source:HGNC Symbol;Acc:8142]

Gene Synonyms

FLJ22187, MGA3

Location
About this transcript

This transcript has 2 exons, is annotated with 5 domains and features, is associated with 12004 variant alleles and maps to 358 oligo probes.

Gene
Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000263275.4OPA3-0027828179aaENSP00000263275.3
 
Protein coding
CCDS12668B4DK77 Q9H6K4 NM_025136.3GENCODE basic
ENST00000323060.3OPA3-0012250180aaENSP00000319817.3
 
Protein coding
CCDS33052Q9H6K4 NM_001017989.2GENCODE basic
ENST00000544371.1OPA3-0031146126aaENSP00000442839.1
 
Protein coding
B4DK77 -GENCODE basic
Statistics

Exons: 2, Coding exons: 2, Transcript length: 7,828 bps, Translation length: 179 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9H6K4

CCDS

This transcript is a member of the Human CCDS set: CCDS12668

Version

ENST00000263275.4

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:
OTTHUMT00000459601 (version 1)
GENCODE basic gene

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