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- SNP ID:
- rs74423290
- Gene
-
TPMT - Gene Name
- thiopurine S-methyltransferase
- Set Membership:
- -
- Chromosome Location:
- Chr.6: 18133884 - 18133884 on Build GRCh38
- Polymorphism:
- G/C, Transversion substitution
- Context Sequence [VIC/FAM]:
TCCCAGGAGGGAAAACATTGTATCT[G/C]CATAGCTACAAAGAACACAAGAAGG
Genomic Map
Back To TopAssay Details
Species: |
Human |
dbSNP Submissions: |
NA
|
Phenotype: |
MIM: 187680
|
Literature Links: |
TPMT PubMed Links |
Allele Nomenclature: |
|
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 |
| TPMT - thiopurine S-methyltransferase | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_000367.3 | 971 | Missense Mutation | GCA,GGA | A,G 167 | NP_000358.1 | |
| XM_011514839.2 | 971 | Missense Mutation | GCA,GGA | A,G 167 | XP_011513141.1 | |
| XM_017011241.1 | 971 | Missense Mutation | GCA,GGA | A,G 167 | XP_016866730.1 | |
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