Product Details

SNP ID
rs201498142
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:78113825 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGTCCTTATGAGCCACCTAGGCCG[C/G]CCTGATGGTGTGCCCATGCCTGACA
Phenotype
MIM: 311800
Polymorphism
C/G, Transversion 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_000291.3 370 Silent Mutation CGC,CGG R66R NP_000282.1

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