Product Details

SNP ID
rs150986093
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:45527919 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGGAATACCCCGCTTGGACAGGGG[G/T]ACCTCTGGGCTGAGGGACAGGTAGT
Phenotype
MIM: 606580 MIM: 601703
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
OPA3 PubMed Links

Gene Details

Gene
OPA3
Gene Name
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001017989.2 1780 UTR 3 NP_001017989.2
NM_025136.3 1780 Intron NP_079412.1
XM_006723403.3 1780 Intron XP_006723466.1
Gene
VASP
Gene Name
vasodilator-stimulated phosphoprotein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003370.3 1780 Intron NP_003361.1
XM_005259199.1 1780 Intron XP_005259256.1
XM_005259200.1 1780 Intron XP_005259257.1
XM_017027200.1 1780 Intron XP_016882689.1

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