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GAACGGAGTTATGTATCAAAACCCA[C/T]TTTGAAGGTAAGTAATTTAAATTGT
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 | |||
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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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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 | 172 | Missense Mutation | ACT,ATT | T,I 38 | NP_000010.1 | |
XM_006718835.3 | 172 | UTR 5 | XP_006718898.1 | |||
XM_017017681.1 | 172 | UTR 5 | XP_016873170.1 | |||
XM_017017682.1 | 172 | UTR 5 | XP_016873171.1 | |||
XM_017017683.1 | 172 | UTR 5 | XP_016873172.1 |