Product Details

SNP ID
rs186743372
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.6:49786514 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCATTGACTTTGTCCAGCATATTT[C/T]TGATAAGTTGGATCTTGTCTGCCAC
Phenotype
MIM: 172270
Polymorphism
C/T, Transition 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_138733.4 827 Missense Mutation AAA,AGA K225R NP_620061.2

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