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GGTCCTGCCTCAGTTGGCGGAATGG[C/T]GGCCACGGGAGCCAATGCAGAGAAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 191730 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
UPP1 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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UPP1 - uridine phosphorylase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001287426.1 | 479 | Missense Mutation | GCG,GTG | A,V 2 | NP_001274355.1 | |
NM_001287428.1 | 479 | UTR 5 | NP_001274357.1 | |||
NM_001287429.1 | 479 | UTR 5 | NP_001274358.1 | |||
NM_001287430.1 | 479 | UTR 5 | NP_001274359.1 | |||
NM_003364.3 | 479 | Missense Mutation | GCG,GTG | A,V 2 | NP_003355.1 | |
XM_005249838.4 | 479 | UTR 5 | XP_005249895.1 | |||
XM_011515512.2 | 479 | Missense Mutation | GCG,GTG | A,V 2 | XP_011513814.1 | |
XM_011515513.2 | 479 | UTR 5 | XP_011513815.1 | |||
XM_011515514.2 | 479 | UTR 5 | XP_011513816.1 | |||
XM_011515515.2 | 479 | UTR 5 | XP_011513817.1 |