Product Details

SNP ID

rs147591957

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:32215387 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCACCCACTGGCCCCCTGAGAAGC[A/G]GGTGGCATACTGCTTTGAGGTGGCA

Phenotype

MIM: 604866 MIM: 607491

Polymorphism

A/G, Transition 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	414	Missense Mutation	CAG,CGG	Q122R	NP_056167.1
NM_172236.1	414	Missense Mutation	CAG,CGG	Q122R	NP_758436.1

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