Product Details

SNP ID

rs202205093

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:45529341 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCAGGCGGTGATGAAGATGATGCC[C/G]TCGCCCAGCAGCTCCGCGCCCAGCT

Phenotype

MIM: 606580 MIM: 601703

Polymorphism

C/G, 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	358	Missense Mutation	GAC,GAG	D86E	NP_001017989.2
NM_025136.3	358	Intron			NP_079412.1
XM_006723403.3	358	Intron			XP_006723466.1

Gene

VASP

Gene Name

vasodilator-stimulated phosphoprotein

There are no transcripts associated with this gene.

View Full Product Details