Product Details

SNP ID
rs75730636
Assay Type
Functionally Tested
NCBI dbSNP Submissions
14
Location
Chr.1:119720392 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGGAAATGTTTTTCTTTCAACATT[A/C]GTTTCATTCATTATTTACTCATTCG
Phenotype
MIM: 606879
Polymorphism
A/C, Transversion Substitution
Allele Nomenclature
Literature Links
PHGDH PubMed Links

Gene Details

Gene
PHGDH
Gene Name
phosphoglycerate dehydrogenase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006623.3 Intron NP_006614.2
XM_011541226.1 Intron XP_011539528.1
XM_011541227.2 Intron XP_011539529.1
XM_011541228.1 Intron XP_011539530.1
XM_011541231.2 Intron XP_011539533.1

View Full Product Details