Product Details

SNP ID

rs12204454

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:159738471 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCCATGGTGTGGCTGTATGATAGTT[C/T]AATCATTTGCCTGTTAAAGGACATT

Phenotype

MIM: 147460 MIM: 605442

Polymorphism

C/T, 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		Intron			NP_000627.2
NM_001024465.2		Intron			NP_001019636.1
NM_001024466.2		Intron			NP_001019637.1
NM_001322814.1		Intron			NP_001309743.1
NM_001322815.1		Intron			NP_001309744.1
NM_001322816.1		Intron			NP_001309745.1
NM_001322817.1		Intron			NP_001309746.1
NM_001322819.1		Intron			NP_001309748.1
NM_001322820.1		Intron			NP_001309749.1

Gene

WTAP

Gene Name

Wilms tumor 1 associated protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001270531.1		Intron			NP_001257460.1
NM_001270532.1		Intron			NP_001257461.1
NM_001270533.1		Intron			NP_001257462.1
NM_004906.4		Intron			NP_004897.2
NM_152857.2		Intron			NP_690596.1
NM_152858.2		Intron			NP_690597.1
XM_017011514.1		Intron			XP_016867003.1
XM_017011515.1		Intron			XP_016867004.1
XM_017011516.1		Intron			XP_016867005.1

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