Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
|||||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 145505 | |||||||||||||||||||||||||||||||||||||||||
Literature Links: |
ACSM3 PubMed Links | |||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
||||||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | ||||||
---|---|---|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | ||||||
EAS
|
African American - Not Available | YRI (Yoruba)
|
||||||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | ||||||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | ||||||
EUR
|
||||||||
AMR
|
ACSM3 - acyl-CoA synthetase medium-chain family member 3 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005622.3 | 1103 | Missense Mutation | ACG,CCG | T,P 308 | NP_005613.2 | |
NM_202000.2 | 1103 | Missense Mutation | ACG,CCG | T,P 308 | NP_973729.1 | |
XM_011545911.1 | 1103 | Missense Mutation | ACG,CCG | T,P 345 | XP_011544213.1 | |
XM_017023523.1 | 1103 | Missense Mutation | ACG,CCG | T,P 308 | XP_016879012.1 | |
XM_017023524.1 | 1103 | Missense Mutation | ACG,CCG | T,P 308 | XP_016879013.1 |
ERI2 - ERI1 exoribonuclease family member 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142725.1 | 1103 | Intron | NP_001136197.1 | |||
NM_080663.2 | 1103 | Intron | NP_542394.2 |
Set Membership: |
HapMap |