Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTTGGTACTTTCTTGGCAGGGCTTG[A/G]AATATGCTAAAATGAAAGGAAAAAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 142940 | ||||||||||||||||||||
Literature Links: |
HMGCS1 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 |
HMGCS1 - 3-hydroxy-3-methylglutaryl-CoA synthase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001098272.2 | 1600 | Missense Mutation | CCA,TCA | P,S 494 | NP_001091742.1 | |
NM_001324219.1 | 1600 | Missense Mutation | CCA,TCA | P,S 494 | NP_001311148.1 | |
NM_001324220.1 | 1600 | Missense Mutation | CCA,TCA | P,S 494 | NP_001311149.1 | |
NM_001324222.1 | 1600 | Missense Mutation | CCA,TCA | P,S 452 | NP_001311151.1 | |
NM_001324223.1 | 1600 | Missense Mutation | CCA,TCA | P,S 452 | NP_001311152.1 | |
NM_001324224.1 | 1600 | Missense Mutation | CCA,TCA | P,S 452 | NP_001311153.1 | |
NM_002130.7 | 1600 | Missense Mutation | CCA,TCA | P,S 494 | NP_002121.4 | |
XM_011514036.2 | 1600 | Missense Mutation | CCA,TCA | P,S 297 | XP_011512338.1 | |
XM_017009412.1 | 1600 | Missense Mutation | CCA,TCA | P,S 494 | XP_016864901.1 |