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- SNP ID:
- rs56038477
- Gene
-
DPYD - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.1: 97573863 - 97573863 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
CATTCCATTTTCCAGTTTCATCTTG[C/T]TCTGTCCGAACAAACTGCATAGCAA
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
26 submissions
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Phenotype: |
MIM: 612779
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Literature Links: |
DPYD PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
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AMR
|
| DPYD - dihydropyrimidine dehydrogenase | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_000110.3 | 1583 | Silent Mutation | GAA,GAG | E,E 412 | NP_000101.2 | |
| NM_001160301.1 | 1583 | Intron | NP_001153773.1 | |||
| XM_005270562.3 | 1583 | Silent Mutation | GAA,GAG | E,E 412 | XP_005270619.2 | |
| XM_006710397.3 | 1583 | Silent Mutation | GAA,GAG | E,E 412 | XP_006710460.1 | |
| XM_017000507.1 | 1583 | Silent Mutation | GAA,GAG | E,E 375 | XP_016855996.1 | |
| XM_017000508.1 | 1583 | Silent Mutation | GAA,GAG | E,E 247 | XP_016855997.1 | |
| XM_017000509.1 | 1583 | Silent Mutation | GAA,GAG | E,E 247 | XP_016855998.1 | |
| XM_017000510.1 | 1583 | Silent Mutation | GAA,GAG | E,E 247 | XP_016855999.1 | |
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