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ACCCCCCAGGGGGTTCACCTTCTCA[C/G]GGGGGAGTCGTAGCTTCTCCACACA
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 |
---|---|---|
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 |
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 | 1295 | Missense Mutation | CCT,CGT | P,R 270 | NP_001123882.1 | |
NM_001607.3 | 1295 | Missense Mutation | CCT,CGT | P,R 363 | NP_001598.1 | |
XM_006713122.1 | 1295 | Missense Mutation | CCT,CGT | P,R 303 | XP_006713185.1 | |
XM_006713123.2 | 1295 | Missense Mutation | CCT,CGT | P,R 211 | XP_006713186.1 | |
XM_011533650.2 | 1295 | Missense Mutation | CCT,CGT | P,R 218 | XP_011531952.1 |
DLEC1 - deleted in lung and esophageal cancer 1 | ||||||
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There are no transcripts associated with this gene. |