Product Details

SNP ID

rs5745078

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:132625317 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CGGCAGCTTGGCGCGTCCCCCAGCC[G/T]CTGCTCAGATGCCCCTCGGCAAGAC

Phenotype

MIM: 600844 MIM: 174762

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

P2RX2 PubMed Links

Gene Details

Gene

P2RX2

Gene Name

purinergic receptor P2X 2

There are no transcripts associated with this gene.

Gene

POLE

Gene Name

DNA polymerase epsilon, catalytic subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006231.3	6964	Intron			NP_006222.2
XM_011534795.2	6964	Silent Mutation	AGG,CGG	R2254R	XP_011533097.1
XM_011534797.2	6964	Silent Mutation	AGG,CGG	R1947R	XP_011533099.1
XM_011534798.1	6964	Silent Mutation	AGG,CGG	R1808R	XP_011533100.1
XM_011534799.2	6964	Intron			XP_011533101.1
XM_011534800.2	6964	Intron			XP_011533102.1
XM_011534802.2	6964	Silent Mutation	AGG,CGG	R1250R	XP_011533104.1

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