Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGGAGGCAGAGGGTGACCTGATGTG[C/T]ATCATTAATGGCCTGGTGGAATTTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
16 submissions
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Phenotype: |
MIM: 173393 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PTAFR 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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PTAFR - platelet activating factor receptor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000952.4 | 1155 | Missense Mutation | ACA,GCA | T,A 274 | NP_000943.1 | |
NM_001164721.1 | 1155 | Missense Mutation | ACA,GCA | T,A 274 | NP_001158193.1 | |
NM_001164722.2 | 1155 | Missense Mutation | ACA,GCA | T,A 274 | NP_001158194.1 | |
NM_001164723.2 | 1155 | Missense Mutation | ACA,GCA | T,A 274 | NP_001158195.1 |