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TGGGCAATGTTCCGGAATATTCCGA[A/T]CTGTTCCATGAAGACCTGCAGGAAT
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 | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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P2RX2 - purinergic receptor P2X 2 | ||||||
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There are no transcripts associated with this gene. |
POLE - DNA polymerase epsilon, catalytic subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006231.3 | 6972 | Missense Mutation | ATC,TTC | I,F 2255 | NP_006222.2 | |
XM_011534795.2 | 6972 | Intron | XP_011533097.1 | |||
XM_011534797.2 | 6972 | Intron | XP_011533099.1 | |||
XM_011534798.1 | 6972 | Intron | XP_011533100.1 | |||
XM_011534799.2 | 6972 | Intron | XP_011533101.1 | |||
XM_011534800.2 | 6972 | Intron | XP_011533102.1 | |||
XM_011534802.2 | 6972 | Intron | XP_011533104.1 |