Product Details

SNP ID

rs200132648

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:78113797 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTGCTTGGACAATGGAGCCAAGT[C/T]GGTAGTCCTTATGAGCCACCTAGGC

Phenotype

MIM: 311800

Polymorphism

C/T, 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	342	Missense Mutation	TCG,TTG	S57L	NP_000282.1

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