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TCGCTCCAGGTGTCTGTATCTGGGT[C/T]GTAACACTCCACACTGTCCAGGAAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606016 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KEAP1 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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KEAP1 - kelch like ECH associated protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_012289.3 | 2077 | Missense Mutation | AAC,GAC | N,D 585 | NP_036421.2 | |
NM_203500.1 | 2077 | Missense Mutation | AAC,GAC | N,D 585 | NP_987096.1 | |
XM_005260173.1 | 2077 | Missense Mutation | AAC,GAC | N,D 585 | XP_005260230.1 | |
XM_005260174.1 | 2077 | Missense Mutation | AAC,GAC | N,D 585 | XP_005260231.1 | |
XM_011528452.1 | 2077 | Missense Mutation | AAC,GAC | N,D 585 | XP_011526754.1 |