Product Details

SNP ID

rs201663472

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:23690933 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCGCAGCTCCTCATGGCTCGGTG[C/G]GTGTGGAGGAGCAGCCGTGGGAAGC

Phenotype

MIM: 604034 MIM: 602098

Polymorphism

C/G, Transversion 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	2836	Silent Mutation	ACC,ACG	T841T	NP_001295149.2
NM_033266.3	2836	Silent Mutation	ACC,ACG	T893T	NP_150296.4
XM_011545708.1	2836	Silent Mutation	ACC,ACG	T749T	XP_011544010.1
XM_011545709.1	2836	Silent Mutation	ACC,ACG	T749T	XP_011544011.1
XM_011545711.2	2836	Intron			XP_011544013.1
XM_011545712.2	2836	Intron			XP_011544014.1
XM_011545713.1	2836	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	2836	Intron			NP_005021.2

View Full Product Details