Product Details

SNP ID

rs28429936

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:45533624 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTAATCCAGGAGAGGTCAGTTCA[C/T]CAGTAAGTCCGTACTCCAGGGCAGG

Phenotype

MIM: 606580 MIM: 601703

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

OPA3 PubMed Links

Additional Information

For this assay, SNP(s) [rs147506846] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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		Intron			NP_001017989.2
NM_025136.3		Intron			NP_079412.1
XM_006723403.3		Intron			XP_006723466.1

Gene

VASP

Gene Name

vasodilator-stimulated phosphoprotein

There are no transcripts associated with this gene.

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