optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) [Source:HGNC Symbol;Acc:8142]
FLJ22187, MGA3
Chromosome 19: 46,056,142-46,105,470 reverse strand.
This transcript has 2 exons, is annotated with 5 domains and features, is associated with 24880 variant alleles and maps to 171 oligo probes.
This transcript is a product of gene ENSG00000125741.4 Show transcript tableHide transcript table
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000263275.4 | OPA3-002 | 7828 | 179aa | ENSP00000263275.3 | Protein coding | CCDS12668 | B4DK77 Q9H6K4 | NM_025136.3 | GENCODE basic, |
ENST00000323060.3 | OPA3-001 | 2250 | 180aa | ENSP00000319817.3 | Protein coding | CCDS33052 | Q9H6K4 | NM_001017989.2 | GENCODE basic, |
ENST00000544371.1 | OPA3-003 | 1146 | 126aa | ENSP00000442839.1 | Protein coding | B4DK77 | - | GENCODE basic, |