Product Details

SNP ID

rs142057573

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:68418770 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGATGAACAGCTCCCTTGTCAAGCC[C/T]GCTTTCTCCTTCTCCTGGGAACCCC

Phenotype

MIM: 600981

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PGM5 PubMed Links

Gene Details

Gene

PGM5

Gene Name

phosphoglucomutase 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021965.3		Intron			NP_068800.2
XM_011518782.2		Intron			XP_011517084.1
XM_011518783.2		Intron			XP_011517085.1
XM_017014808.1		Intron			XP_016870297.1

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