Product Details

SNP ID

rs5746129

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:159684911 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CAAGCAGCAATTTGTAAGTGTCCCC[A/G]TTCCTTATTGAAACCAAGCCAACCC

Phenotype

MIM: 147460

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SOD2 PubMed Links

Gene Details

Gene

SOD2

Gene Name

superoxide dismutase 2, mitochondrial

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000636.3	2156	Missense Mutation	CGG,TGG	R156W	NP_000627.2
NM_001024465.2	2156	Missense Mutation	CGG,TGG	R156W	NP_001019636.1
NM_001024466.2	2156	Missense Mutation	CGG,TGG	R117W	NP_001019637.1
NM_001322814.1	2156	Missense Mutation	CGG,TGG	R117W	NP_001309743.1
NM_001322815.1	2156	Intron			NP_001309744.1
NM_001322816.1	2156	Intron			NP_001309745.1
NM_001322817.1	2156	Missense Mutation	CGG,TGG	R110W	NP_001309746.1
NM_001322819.1	2156	Missense Mutation	CGG,TGG	R110W	NP_001309748.1
NM_001322820.1	2156	Missense Mutation	CGG,TGG	R110W	NP_001309749.1

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