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TTCAGTGACGTCTCCAGCTGGAACC[A/G]GAGACTGTCAGGCTTCAGGGAGTTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
6 submissions
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Phenotype: |
MIM: 608477 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AKR7A3 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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AKR7A3 - aldo-keto reductase family 7 member A3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_012067.2 | 85 | Missense Mutation | CGG,TGG | R,W 92 | NP_036199.2 | |
XM_011541046.2 | 85 | Missense Mutation | CGG,TGG | R,W 92 | XP_011539348.1 | |
XM_017000714.1 | 85 | Missense Mutation | CGG,TGG | R,W 21 | XP_016856203.1 |
LOC100506730 - uncharacterized LOC100506730 | ||||||
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There are no transcripts associated with this gene. |