Product Details

SNP ID

rs201469651

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:37826780 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCTAGGCGAGGACGCCCGGCTGGA[A/C]CAGGAGACCGCCCAGTGGCTGCGCT

Phenotype

MIM: 172000

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

PGM2 PubMed Links

Gene Details

Gene

PGM2

Gene Name

phosphoglucomutase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018290.3	57	Missense Mutation	GAA,GAC	E16D	NP_060760.2
XM_011513711.2	57	UTR 5			XP_011512013.1

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