Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCCACGAGGCCTCCGACCTCTACTG[C/T]CCCATCTTCAAGCTGGGCTTTATCG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600844 MIM: 174762 | ||||||||||||||||||||
Literature Links: |
P2RX2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
P2RX2 - purinergic receptor P2X 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282164.1 | 745 | Missense Mutation | CCC,TCC | P,S 201 | NP_001269093.1 | |
NM_001282165.1 | 745 | Silent Mutation | TGC,TGT | C,C 236 | NP_001269094.1 | |
NM_012226.4 | 745 | Silent Mutation | TGC,TGT | C,C 164 | NP_036358.2 | |
NM_016318.3 | 745 | Silent Mutation | TGC,TGT | C,C 212 | NP_057402.1 | |
NM_170682.3 | 745 | Silent Mutation | TGC,TGT | C,C 236 | NP_733782.1 | |
NM_170683.3 | 745 | Silent Mutation | TGC,TGT | C,C 236 | NP_733783.1 | |
NM_174872.2 | 745 | Silent Mutation | TGC,TGT | C,C 144 | NP_777361.1 | |
NM_174873.2 | 745 | Silent Mutation | TGC,TGT | C,C 236 | NP_777362.1 | |
XM_005266154.3 | 745 | Nonsense Mutation | TGC,TGT | C,C 236 | XP_005266211.1 | |
XM_005266155.4 | 745 | Nonsense Mutation | TGC,TGT | C,C 236 | XP_005266212.1 | |
XM_005266156.4 | 745 | Nonsense Mutation | TGC,TGT | C,C 236 | XP_005266213.1 | |
XM_011534786.2 | 745 | Nonsense Mutation | TGC,TGT | C,C 212 | XP_011533088.1 | |
XM_017019035.1 | 745 | Nonsense Mutation | TGC,TGT | C,C 236 | XP_016874524.1 |
POLE - DNA polymerase epsilon, catalytic subunit | ||||||
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There are no transcripts associated with this gene. |