Product Details

SNP ID

rs144300117

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:132620571 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAAGGCTGGGGAGAGCTTCACAGA[A/G]CTCGCACACAAGGCAGGGCAAGCGC

Phenotype

MIM: 600844 MIM: 174762

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

P2RX2 PubMed Links

Gene Details

Gene

P2RX2

Gene Name

purinergic receptor P2X 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282164.1	799	Missense Mutation	ACT,GCT	T219A	NP_001269093.1
NM_001282165.1	799	Silent Mutation	GAA,GAG	E254E	NP_001269094.1
NM_012226.4	799	Silent Mutation	GAA,GAG	E182E	NP_036358.2
NM_016318.3	799	Silent Mutation	GAA,GAG	E230E	NP_057402.1
NM_170682.3	799	Silent Mutation	GAA,GAG	E254E	NP_733782.1
NM_170683.3	799	Silent Mutation	GAA,GAG	E254E	NP_733783.1
NM_174872.2	799	Silent Mutation	GAA,GAG	E162E	NP_777361.1
NM_174873.2	799	Silent Mutation	GAA,GAG	E254E	NP_777362.1
XM_005266154.3	799	Silent Mutation	GAA,GAG	E254E	XP_005266211.1
XM_005266155.4	799	Silent Mutation	GAA,GAG	E254E	XP_005266212.1
XM_005266156.4	799	Silent Mutation	GAA,GAG	E254E	XP_005266213.1
XM_011534786.2	799	Silent Mutation	GAA,GAG	E230E	XP_011533088.1
XM_017019035.1	799	Silent Mutation	GAA,GAG	E254E	XP_016874524.1

Gene

POLE

Gene Name

DNA polymerase epsilon, catalytic subunit

There are no transcripts associated with this gene.

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