Product Details

SNP ID
rs3203593
Assay Type
Functionally Tested
NCBI dbSNP Submissions
1
Location
Chr.1:23801993 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTGGCAGACGGCCACCACGTAGCT[C/T]TCCACTTTCCACAAATGGCCTCTGC
Phenotype
MIM: 606953 MIM: 613898 MIM: 616143
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
GALE PubMed Links

Gene Details

Gene
GALE
Gene Name
UDP-galactose-4-epimerase
There are no transcripts associated with this gene.

Gene
HMGCL
Gene Name
3-hydroxymethyl-3-methylglutaryl-CoA lyase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000191.2 1279 UTR 3 NP_000182.2
NM_001166059.1 1279 UTR 3 NP_001159531.1
Gene
LYPLA2
Gene Name
lysophospholipase II
There are no transcripts associated with this gene.

View Full Product Details