Product Details

SNP ID
rs996160
Assay Type
Functionally Tested
NCBI dbSNP Submissions
1
Location
Chr.1:119752363 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCATCCTGCCTCCCTCTTCCCAACT[A/C]TATCTTCTGTTTCCCCACCCACTTC
Phenotype
MIM: 600234 MIM: 606879
Polymorphism
A/C, 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 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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