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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