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TCCGGATTCCCACTGAGAAGTTGGT[A/G]GGCCAGCTAGTGAAAATCATACATC
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 613234 | |||||||||||||||||||||||
Literature Links: |
NCEH1 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 - 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 |
NCEH1 - neutral cholesterol ester hydrolase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001146276.1 | 1395 | Silent Mutation | CCC,CCT | P,P 427 | NP_001139748.1 | |
NM_001146277.1 | 1395 | Silent Mutation | CCC,CCT | P,P 254 | NP_001139749.1 | |
NM_001146278.1 | 1395 | Silent Mutation | CCC,CCT | P,P 254 | NP_001139750.1 | |
NM_020792.4 | 1395 | Silent Mutation | CCC,CCT | P,P 419 | NP_065843.3 |