Product Details

SNP ID
rs200911338
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:132624762 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGGTCTCCAGGAGGTACGACATGC[C/T]GTAGTGCTGGGCAATGTTCCGGAAT
Phenotype
MIM: 600844 MIM: 174762
Polymorphism
C/T, Transition 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 7005 Missense Mutation AGC,GGC S2266G NP_006222.2
XM_011534795.2 7005 Intron XP_011533097.1
XM_011534797.2 7005 Intron XP_011533099.1
XM_011534798.1 7005 Intron XP_011533100.1
XM_011534799.2 7005 Intron XP_011533101.1
XM_011534800.2 7005 Intron XP_011533102.1
XM_011534802.2 7005 Intron XP_011533104.1

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