Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGGAAGAGCGTGGGCCGGTCCTGCA[A/C]CGGTTTGGTGAAGATCTGCAGGAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609695 MIM: 611055 | ||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
HPD 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)
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EAS
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African American - Not Available | YRI (Yoruba)
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SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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HPD - 4-hydroxyphenylpyruvate dioxygenase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001171993.1 | 1058 | Missense Mutation | GTG,TTG | V,L 301 | NP_001165464.1 | |
NM_002150.2 | 1058 | Missense Mutation | GTG,TTG | V,L 340 | NP_002141.1 |
SETD1B - SET domain containing 1B | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
HapMap |