Product Details

SNP ID
rs201217519
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:78113864 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCATGCCTGACAAGTACTCCTTAGA[A/G]CCAGTTGCTGTAGAACTCAAATCTC
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_000291.3 409 Silent Mutation GAA,GAG E79E NP_000282.1

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