Product Details

SNP ID

rs140635234

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:37830078 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGACAGCTGGCCTCCGAGCTGCT[A/G]TGGGACCTGGAATTTCTCGTATGAA

Phenotype

MIM: 172000

Polymorphism

A/G, Transition 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	205	Missense Mutation	ATG,GTG	M66V	NP_060760.2
XM_011513711.2	205	UTR 5			XP_011512013.1

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