Product Details

SNP ID
rs73481453
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:132624741 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTTCTGCAGCAGCCACTCCAGGG[A/T]CTCCAGGAGGTACGACATGCCGTAG
Phenotype
MIM: 600844 MIM: 174762
Polymorphism
A/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 7026 Missense Mutation ACC,TCC T2273S NP_006222.2
XM_011534795.2 7026 Intron XP_011533097.1
XM_011534797.2 7026 Intron XP_011533099.1
XM_011534798.1 7026 Intron XP_011533100.1
XM_011534799.2 7026 Intron XP_011533101.1
XM_011534800.2 7026 Intron XP_011533102.1
XM_011534802.2 7026 Intron XP_011533104.1

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