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CGTGATGACCTGTCGTGCCCCAGTG[C/T]AGCCCAGTGGGTGCCCTAAGGCCAC
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604054 MIM: 604050 | |||||||||||||||||||||||
Literature Links: |
ACAA1 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 |
ACAA1 - acetyl-CoA acyltransferase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130410.1 | 1349 | Missense Mutation | TAC,TGC | Y,C 288 | NP_001123882.1 | |
NM_001607.3 | 1349 | Missense Mutation | TAC,TGC | Y,C 381 | NP_001598.1 | |
XM_006713122.1 | 1349 | Missense Mutation | TAC,TGC | Y,C 321 | XP_006713185.1 | |
XM_006713123.2 | 1349 | Missense Mutation | TAC,TGC | Y,C 229 | XP_006713186.1 | |
XM_011533650.2 | 1349 | Missense Mutation | TAC,TGC | Y,C 236 | XP_011531952.1 |
DLEC1 - deleted in lung and esophageal cancer 1 | ||||||
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There are no transcripts associated with this gene. |