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Species: |
Human | |||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 142410 | |||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
HNF1A 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) - Not Available | ||||||
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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HNF1A - HNF1 homeobox A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000545.6 | 280 | Missense Mutation | ATC,CTC | I,L 27 | NP_000536.5 | |
NM_001306179.1 | 280 | Missense Mutation | ATC,CTC | I,L 27 | NP_001293108.1 | |
XM_005253931.3 | 280 | Missense Mutation | ATC,CTC | I,L 27 | XP_005253988.1 |
HNF1A-AS1 - HNF1A antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
HapMap |