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GGCCCGATCCCGAGCCCTCTTCCTT[A/G]TGGAGGTGAGGGCAGAGGAGCCCTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606377 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DHDH 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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DHDH - dihydrodiol dehydrogenase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014475.3 | 961 | Missense Mutation | ATG,GTG | M,V 121 | NP_055290.1 | |
XM_005258748.4 | 961 | Intron | XP_005258805.1 | |||
XM_017026598.1 | 961 | Missense Mutation | ATG,GTG | M,V 38 | XP_016882087.1 |