Product Details

SNP ID

rs12085478

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:119717444 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAATATTTTCTTCCAGAGTTTCTAA[A/G]ATTTGTGCCTTGCTTATGAAAGGTT

Phenotype

MIM: 606879

Polymorphism

A/G, Transition 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

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