Product Details

SNP ID

rs6142638

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:32202009 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCTCTGGTTGCGGGAGGCTGTGA[A/G]GCCTCAGCTTCTCCCCATTTGAGAA

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002657.3	1232	Intron			NP_002648.1
XM_005260436.3	1232	Missense Mutation	CCT,CTT	P57L	XP_005260493.1
XM_011528863.2	1232	Missense Mutation	CCT,CTT	P57L	XP_011527165.1
XM_011528864.2	1232	Missense Mutation	CCT,CTT	P57L	XP_011527166.1

Gene

POFUT1

Gene Name

protein O-fucosyltransferase 1

There are no transcripts associated with this gene.

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