Product Details

SNP ID
rs138767254
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:23690950 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCGGTGCGTGTGGAGGAGCAGCC[A/G]TGGGAAGCGGTTTGTGAAGTACTGG
Phenotype
MIM: 604034 MIM: 602098
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
ERN2 PubMed Links

Gene Details

Gene
ERN2
Gene Name
endoplasmic reticulum to nucleus signaling 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001308220.1 2819 Missense Mutation CGG,TGG R836W NP_001295149.2
NM_033266.3 2819 Missense Mutation CGG,TGG R888W NP_150296.4
XM_011545708.1 2819 Missense Mutation CGG,TGG R744W XP_011544010.1
XM_011545709.1 2819 Missense Mutation CGG,TGG R744W XP_011544011.1
XM_011545711.2 2819 Intron XP_011544013.1
XM_011545712.2 2819 Intron XP_011544014.1
XM_011545713.1 2819 Intron XP_011544015.1
Gene
PLK1
Gene Name
polo like kinase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005030.5 2819 Intron NP_005021.2

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