Product Details

SNP ID

rs200841594

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:23691161 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCACAGCACGGAGCAGGTCTCGCA[C/T]TGATGTCCCCTTATAGGACCGGAAC

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	2693	Missense Mutation	ATG,GTG	M794V	NP_001295149.2
NM_033266.3	2693	Missense Mutation	ATG,GTG	M846V	NP_150296.4
XM_011545708.1	2693	Missense Mutation	ATG,GTG	M702V	XP_011544010.1
XM_011545709.1	2693	Missense Mutation	ATG,GTG	M702V	XP_011544011.1
XM_011545711.2	2693	Intron			XP_011544013.1
XM_011545712.2	2693	Intron			XP_011544014.1
XM_011545713.1	2693	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	2693	Intron			NP_005021.2

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