Product Details

SNP ID
rs2290995
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:43288097 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGAGTCTGCAAGGCTGAATAAGGA[A/C]TATACATAGAATGAATAGTGCTTAC
Phenotype
MIM: 142940
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
HMGCS1 PubMed Links

Gene Details

Gene
HMGCS1
Gene Name
3-hydroxy-3-methylglutaryl-CoA synthase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001098272.2 4717 UTR 3 NP_001091742.1
NM_001324219.1 4717 UTR 3 NP_001311148.1
NM_001324220.1 4717 UTR 3 NP_001311149.1
NM_001324222.1 4717 UTR 3 NP_001311151.1
NM_001324223.1 4717 UTR 3 NP_001311152.1
NM_001324224.1 4717 UTR 3 NP_001311153.1
NM_002130.7 4717 UTR 3 NP_002121.4
XM_011514036.2 4717 Intron XP_011512338.1
XM_017009412.1 4717 Intron XP_016864901.1
Gene
NIM1K
Gene Name
NIM1 serine/threonine protein kinase
There are no transcripts associated with this gene.

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