Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTCTCCTTTTTCCGAAGTTCCTTCC[A/G]TTCAATCTTGCCAGTGATGGTTTTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614357 | ||||||||||||||||||||
Literature Links: |
ACSM1 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 |
ACSM1 - acyl-CoA synthetase medium-chain family member 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318890.1 | 2591 | Missense Mutation | CGG,TGG | R,W 566 | NP_001305819.1 | |
NM_052956.2 | 2591 | Missense Mutation | CGG,TGG | R,W 566 | NP_443188.2 | |
XM_006721016.2 | 2591 | Missense Mutation | CGG,TGG | R,W 532 | XP_006721079.1 | |
XM_006721017.2 | 2591 | Missense Mutation | CGG,TGG | R,W 505 | XP_006721080.1 | |
XM_006721018.2 | 2591 | Missense Mutation | CGG,TGG | R,W 346 | XP_006721081.1 | |
XM_011545729.2 | 2591 | Intron | XP_011544031.1 | |||
XM_011545730.2 | 2591 | Missense Mutation | CGG,TGG | R,W 408 | XP_011544032.1 | |
XM_011545731.2 | 2591 | Missense Mutation | CGG,TGG | R,W 367 | XP_011544033.1 | |
XM_011545732.2 | 2591 | Missense Mutation | CGG,TGG | R,W 346 | XP_011544034.1 | |
XM_017022914.1 | 2591 | Intron | XP_016878403.1 | |||
XM_017022915.1 | 2591 | Missense Mutation | CGG,TGG | R,W 328 | XP_016878404.1 |