Product Details

SNP ID

rs137852531

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:78113890 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGTTGCTGTAGAACTCAAATCTC[C/T]GCTGGGCAAGTAAGTGCCAGGCTCT

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	435	Missense Mutation	CCG,CTG	P88L	NP_000282.1

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