Product Details

SNP ID

rs56828380

Assay Type

Functionally tested

NCBI dbSNP Submissions

18

Location

Chr.1:119748515 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTAACACATGACAGGAAAGTTTATC[G/T]GGATCTTGAAGGCAACAGCTGATCT

Phenotype

MIM: 600234 MIM: 606879

Polymorphism

G/T, Transversion 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	1947	UTR 3			NP_001159579.1
NM_005518.3	1947	UTR 3			NP_005509.1
XM_011541313.1	1947	UTR 3			XP_011539615.1

Gene

PHGDH

Gene Name

phosphoglycerate dehydrogenase

There are no transcripts associated with this gene.

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