Product Details

SNP ID

rs13315530

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:193596628 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTCATTTCCATGAACTTTTAAGA[A/G]AACTCTTAAAGACATGTTTAATTCT

Phenotype

MIM: 605290

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

OPA1 PubMed Links

Gene Details

Gene

OPA1

Gene Name

OPA1, mitochondrial dynamin like GTPase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015560.2		Intron			NP_056375.2
NM_130831.2		Intron			NP_570844.1
NM_130832.2		Intron			NP_570845.1
NM_130833.2		Intron			NP_570846.1
NM_130834.2		Intron			NP_570847.2
NM_130835.2		Intron			NP_570848.1
NM_130836.2		Intron			NP_570849.2
NM_130837.2		Intron			NP_570850.2
XM_017006500.1		Intron			XP_016861989.1

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