Product Details

SNP ID

rs12096684

Assay Type

Functionally tested

NCBI dbSNP Submissions

33

Location

Chr.1:119748857 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATCTGCAGAACTTAAATAAACAAAA[A/G]GTCATTCAATCATGGGTCTCCTCTT

Phenotype

MIM: 600234 MIM: 606879

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HMGCS2 PubMed Links

Gene Details

Gene

HMGCS2

Gene Name

3-hydroxy-3-methylglutaryl-CoA synthase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001166107.1		Intron			NP_001159579.1
NM_005518.3		Intron			NP_005509.1
XM_011541313.1		Intron			XP_011539615.1

Gene

PHGDH

Gene Name

phosphoglycerate dehydrogenase

There are no transcripts associated with this gene.

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