Product Details

SNP ID

rs11879934

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:45542647 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GACAGAAACCTCATTATGTGGTACA[G/T]TACTTCACTGTTTTTTTGTTTTTTT

Phenotype

MIM: 606580

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

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