Product Details

SNP ID

rs145668210

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:77801484 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCAGAGCACCTCATACTTGAATAC[A/G]CTAAAAGAGCAGCATCAGACAAAGG

Phenotype

MIM: 616773

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MIGA1 PubMed Links

Gene Details

Gene

MIGA1

Gene Name

mitoguardin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001270384.1	351	Missense Mutation	ACT,GCT	T117A	NP_001257313.1
NM_198549.3	351	Missense Mutation	ACT,GCT	T117A	NP_940951.1
XM_005270846.4	351	Missense Mutation	ACT,GCT	T117A	XP_005270903.1
XM_005270847.4	351	Missense Mutation	ACT,GCT	T85A	XP_005270904.1
XM_005270848.4	351	Missense Mutation	ACT,GCT	T85A	XP_005270905.1
XM_011541422.2	351	Missense Mutation	ACT,GCT	T85A	XP_011539724.1
XM_017001227.1	351	Missense Mutation	ACT,GCT	T85A	XP_016856716.1
XM_017001228.1	351	Missense Mutation	ACT,GCT	T85A	XP_016856717.1
XM_017001229.1	351	Missense Mutation	ACT,GCT	T85A	XP_016856718.1
XM_017001230.1	351	Missense Mutation	ACT,GCT	T85A	XP_016856719.1
XM_017001231.1	351	Missense Mutation	ACT,GCT	T117A	XP_016856720.1
XM_017001232.1	351	Missense Mutation	ACT,GCT	T85A	XP_016856721.1

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