Product Details

SNP ID

rs77160003

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:193593378 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGCGTGACCTCCCCGCCGGCGGG[G/A]TGTGGCGACTACGTCGGGCCGCTGT

Phenotype

MIM: 605290

Polymorphism

G/A, 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	152	Missense Mutation	ATG,GTG	M1V	NP_056375.2
NM_130831.2	152	Missense Mutation	ATG,GTG	M1V	NP_570844.1
NM_130832.2	152	Missense Mutation	ATG,GTG	M1V	NP_570845.1
NM_130833.2	152	Missense Mutation	ATG,GTG	M1V	NP_570846.1
NM_130834.2	152	Missense Mutation	ATG,GTG	M1V	NP_570847.2
NM_130835.2	152	Missense Mutation	ATG,GTG	M1V	NP_570848.1
NM_130836.2	152	Missense Mutation	ATG,GTG	M1V	NP_570849.2
NM_130837.2	152	Missense Mutation	ATG,GTG	M1V	NP_570850.2
XM_017006500.1	152	UTR 5			XP_016861989.1

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