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TGCAGTGATGTTTTCCAGTATGAGA[C/T]GAACAAAGTCACTCGGATCCAGAGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602566 | ||||||||||||||||||||
Literature Links: |
P2RX7 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 |
P2RX7 - purinergic receptor P2X 7 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002562.5 | 196 | Missense Mutation | ACG,ATG | T,M 15 | NP_002553.3 | |
XM_011538419.2 | 196 | UTR 5 | XP_011536721.1 | |||
XM_011538420.2 | 196 | Intron | XP_011536722.1 | |||
XM_017019364.1 | 196 | UTR 5 | XP_016874853.1 | |||
XM_017019365.1 | 196 | UTR 5 | XP_016874854.1 | |||
XM_017019366.1 | 196 | UTR 5 | XP_016874855.1 | |||
XM_017019367.1 | 196 | UTR 5 | XP_016874856.1 |