Product Details

SNP ID

rs145427268

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:159767084 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTTCCAGCATGGAGCTGCCAGAT[A/G]ATCTGTGGGTCAGGCCTAAAAGCTG

Phenotype

MIM: 100678 MIM: 147460

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ACAT2 PubMed Links

Gene Details

Gene

ACAT2

Gene Name

acetyl-CoA acetyltransferase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001303253.1	401	Missense Mutation	ATA,ATG	I119M	NP_001290182.1
NM_005891.2	401	Missense Mutation	ATA,ATG	I90M	NP_005882.2

Gene

LOC100129518

Gene Name

uncharacterized LOC100129518

There are no transcripts associated with this gene.

Gene

SOD2

Gene Name

superoxide dismutase 2, mitochondrial

There are no transcripts associated with this gene.

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