Product Details

SNP ID

rs190773126

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:32217011 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTCTCAATTTCCTCCTCTAGGCG[G/T]GAGAATCACTCCTGTGTTACCTTAC

Phenotype

MIM: 604866 MIM: 607491

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

PLAGL2 PubMed Links

Gene Details

Gene

PLAGL2

Gene Name

PLAG1 like zinc finger 2

There are no transcripts associated with this gene.

Gene

POFUT1

Gene Name

protein O-fucosyltransferase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015352.1	595	Intron			NP_056167.1
NM_172236.1	595	Silent Mutation	CGG,CGT	R182R	NP_758436.1

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