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TGTGGGCATCACCAGGCTTGTAGAG[G/T]ACACTGCAGAGAGAGAGGAGAGAGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 189907 | ||||||||||||||||||||
Literature Links: |
HNF1B PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
HNF1B - HNF1 homeobox B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000458.3 | 1635 | Missense Mutation | ACT,CCT | T,P 553 | NP_000449.1 | |
NM_001165923.3 | 1635 | Missense Mutation | ACT,CCT | T,P 527 | NP_001159395.1 | |
NM_001304286.1 | 1635 | Missense Mutation | TAC,TCC | Y,S 422 | NP_001291215.1 | |
XM_011525160.1 | 1635 | Missense Mutation | TAC,TCC | Y,S 513 | XP_011523462.1 | |
XM_011525161.1 | 1635 | Missense Mutation | ACT,CCT | T,P 488 | XP_011523463.1 | |
XM_011525162.2 | 1635 | Intron | XP_011523464.1 | |||
XM_011525163.2 | 1635 | Intron | XP_011523465.1 | |||
XM_011525164.1 | 1635 | Missense Mutation | TAC,TCC | Y,S 487 | XP_011523466.1 |