Human (GRCh37.p13)
Description

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

Gene Synonyms

FLJ22187, MGA3

Location

Chromosome 19: 46,030,685-46,105,470 reverse strand.

GRCh37:CM000681.1

About this gene

This gene has 3 transcripts (splice variants) and is associated with 6 phenotypes.

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