Product Details

SNP ID
rs144279415
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:23691422 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACTCCTTCTCCAGCCAGTCACTGA[C/T]GTCCTGGGGCCCAGAGAGCTCCTGA
Phenotype
MIM: 604034 MIM: 602098
Polymorphism
C/T, 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 2537 Missense Mutation ATC,GTC I742V NP_001295149.2
NM_033266.3 2537 Missense Mutation ATC,GTC I794V NP_150296.4
XM_011545708.1 2537 Missense Mutation ATC,GTC I650V XP_011544010.1
XM_011545709.1 2537 Missense Mutation ATC,GTC I650V XP_011544011.1
XM_011545711.2 2537 Intron XP_011544013.1
XM_011545712.2 2537 Intron XP_011544014.1
XM_011545713.1 2537 Intron XP_011544015.1
Gene
PLK1
Gene Name
polo like kinase 1
There are no transcripts associated with this gene.

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