Product Details

SNP ID

rs201833700

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:78113770 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTAAGGCTGCTGTCCCAAGCATCA[A/G]ATTCTGCTTGGACAATGGAGCCAAG

Phenotype

MIM: 311800

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PGK1 PubMed Links

Gene Details

Gene

PGK1

Gene Name

phosphoglycerate kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000291.3	315	Missense Mutation	AAA,AGA	K48R	NP_000282.1

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