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- SNP ID:
- rs780176624
- Gene
-
PTAFR - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.1: 28150056 - 28150056 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
GCACAACCACTTCAGTGACCGTATC[C/T]GTGGTGGCCCGGGAGCATTTCCGGC
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
4 submissions
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Phenotype: |
MIM: 173393
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Literature Links: |
PTAFR 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 |
| PTAFR - platelet activating factor receptor | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_000952.4 | 1301 | Silent Mutation | ACA,ACG | T,T 322 | NP_000943.1 | |
| NM_001164721.1 | 1301 | Silent Mutation | ACA,ACG | T,T 322 | NP_001158193.1 | |
| NM_001164722.2 | 1301 | Silent Mutation | ACA,ACG | T,T 322 | NP_001158194.1 | |
| NM_001164723.2 | 1301 | Silent Mutation | ACA,ACG | T,T 322 | NP_001158195.1 | |
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