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GAAAGAAGCATACATGGGTAATGTT[C/T]TACAAGGAGGTGAAGGACAAGCTCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607809 | ||||||||||||||||||||
Literature Links: |
ACAT1 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 |
ACAT1 - acetyl-CoA acetyltransferase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000019.3 | 342 | Silent Mutation | CTA,TTA | L,L 95 | NP_000010.1 | |
XM_006718835.3 | 342 | Silent Mutation | CTA,TTA | L,L 5 | XP_006718898.1 | |
XM_017017681.1 | 342 | Silent Mutation | CTA,TTA | L,L 5 | XP_016873170.1 | |
XM_017017682.1 | 342 | Silent Mutation | TTC,TTT | F,F 2 | XP_016873171.1 | |
XM_017017683.1 | 342 | Silent Mutation | TTC,TTT | F,F 2 | XP_016873172.1 |