Product Details

SNP ID
rs201510519
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:49786350 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTAACAAAATCAACAGGAAAAGTAA[A/T]CCTTACACCATTCTTTTGTGCTTTG
Phenotype
MIM: 172270
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
PGK2 PubMed Links

Gene Details

Gene
PGK2
Gene Name
phosphoglycerate kinase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_138733.4 991 Missense Mutation ATT,TTT I280F NP_620061.2

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