Product Details

SNP ID

rs201888844

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:45529183 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGCTGCGTCGACGTCGCCTGCACC[A/T]GCGCCTGCAACTCCTCGAGCGCCAG

Phenotype

MIM: 606580 MIM: 601703

Polymorphism

A/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	516	Missense Mutation	CAG,CTG	Q139L	NP_001017989.2
NM_025136.3	516	Intron			NP_079412.1
XM_006723403.3	516	Intron			XP_006723466.1

Gene

VASP

Gene Name

vasodilator-stimulated phosphoprotein

There are no transcripts associated with this gene.

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