Product Details

SNP ID

rs140959406

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:45529415 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTTGATGGCAGCGGCATTGAAAC[C/T]CATGATGCGCATTTTGGTCCGCATC

Phenotype

MIM: 606580 MIM: 601703

Polymorphism

C/T, Transition 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	284	Missense Mutation	AGT,GGT	S62G	NP_001017989.2
NM_025136.3	284	Intron			NP_079412.1
XM_006723403.3	284	Intron			XP_006723466.1

Gene

VASP

Gene Name

vasodilator-stimulated phosphoprotein

There are no transcripts associated with this gene.

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