Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Entrez Gene ID: | 80207 |
Gene Name: | optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) |
Gene Aliases: |
MGA3 |
Location: |
Chr.19:45527767-45584864 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
OPA3 | NM_001017989.2 | NP_001017989.2 | ||
NM_025136.3 | NP_079412.1 | |||
XM_006723403.3 | XP_006723466.1 | |||
AK025840.1 | BAB15255.1 | |||
AK098798.1 | BAC05415.1 | |||
AK296429.1 | ||||
BC005059.1 | AAH05059.1 | |||
BC047316.1 | AAH47316.1 | |||
BC064146.1 | AAH64146.1 | |||
DB034102.1 |
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833848 | Chr.19:45457372 - 45644939 on Build GRCh38 | Loss | OPA3 RTN2 PPM1N MIR330 EML2-AS1 GPR4 FOSB VASP ERCC1 EML2 |
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |