Product Details

SNP ID

rs200172498

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:49786227 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCACAACTTGAGCATGATTCTTGT[G/T]GCTCTCAGGACCACAGTCCAAACCC

Phenotype

MIM: 172270

Polymorphism

G/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	1114	Missense Mutation	AAC,CAC	N321H	NP_620061.2

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