Product Details

SNP ID

rs56129167

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:23690925 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCTCAGAGGCGCAGCTCCTCATG[C/G]CTCGGTGCGTGTGGAGGAGCAGCCG

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	2844	Missense Mutation	GCC,GGC	A844G	NP_001295149.2
NM_033266.3	2844	Missense Mutation	GCC,GGC	A896G	NP_150296.4
XM_011545708.1	2844	Missense Mutation	GCC,GGC	A752G	XP_011544010.1
XM_011545709.1	2844	Missense Mutation	GCC,GGC	A752G	XP_011544011.1
XM_011545711.2	2844	Intron			XP_011544013.1
XM_011545712.2	2844	Intron			XP_011544014.1
XM_011545713.1	2844	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	2844	Intron			NP_005021.2

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