Product Details

SNP ID: rs2270199
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:45527807 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CAGAGCTCCTTTAATTAGAAAACGC[G/T]GACAGTCGATTTATAAAGTAGCATT
Phenotype: MIM: 606580 MIM: 601703
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	1892	UTR 3			NP_001017989.2
NM_025136.3	1892	Intron			NP_079412.1
XM_006723403.3	1892	Intron			XP_006723466.1

Gene: VASP
Gene Name: vasodilator-stimulated phosphoprotein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003370.3	1892	Intron			NP_003361.1
XM_005259199.1	1892	Intron			XP_005259256.1
XM_005259200.1	1892	Intron			XP_005259257.1
XM_017027200.1	1892	Intron			XP_016882689.1

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