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TTTACCAGTGGAACAAGTGGATATC[C/T]GAAAATGACTGCACACACCCACAGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 145505 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ACSM3 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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ACSM3 - acyl-CoA synthetase medium-chain family member 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005622.3 | 906 | Missense Mutation | CCG,CTG | P,L 242 | NP_005613.2 | |
NM_202000.2 | 906 | Missense Mutation | CCG,CTG | P,L 242 | NP_973729.1 | |
XM_011545911.1 | 906 | Missense Mutation | CCG,CTG | P,L 279 | XP_011544213.1 | |
XM_017023523.1 | 906 | Missense Mutation | CCG,CTG | P,L 242 | XP_016879012.1 | |
XM_017023524.1 | 906 | Missense Mutation | CCG,CTG | P,L 242 | XP_016879013.1 |
ERI2 - ERI1 exoribonuclease family member 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142725.1 | 906 | Intron | NP_001136197.1 | |||
NM_080663.2 | 906 | Intron | NP_542394.2 |