Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609252 | ||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
LIPI 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)
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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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LIPI - lipase I | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001302998.1 | 1360 | Missense Mutation | GAA,GAC | E,D 444 | NP_001289927.1 | |
NM_001302999.1 | 1360 | Missense Mutation | GAA,GAC | E,D 414 | NP_001289928.1 | |
NM_001303000.1 | 1360 | Missense Mutation | GAA,GAC | E,D 438 | NP_001289929.1 | |
NM_001303001.1 | 1360 | Missense Mutation | AAA,ACA | K,T 348 | NP_001289930.1 | |
NM_198996.3 | 1360 | Missense Mutation | GAA,GAC | E,D 465 | NP_945347.2 | |
XM_006723965.3 | 1360 | Intron | XP_006724028.1 |
Set Membership: |
HapMap |