Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GATCCAAGGATTCTGTAGCTACAAT[A/G]TTGTCAAGACTTTTTCGAATGCATG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 142910 | ||||||||||||||||||||
Literature Links: |
HMGCR 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 |
HMGCR - 3-hydroxy-3-methylglutaryl-CoA reductase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000859.2 | 159 | Missense Mutation | ATA,ATG | I,M 1 | NP_000850.1 | |
NM_001130996.1 | 159 | Missense Mutation | ATA,ATG | I,M 1 | NP_001124468.1 | |
XM_011543357.1 | 159 | Missense Mutation | ATA,ATG | I,M 21 | XP_011541659.1 | |
XM_011543358.1 | 159 | Missense Mutation | ATA,ATG | I,M 1 | XP_011541660.1 | |
XM_011543359.1 | 159 | Missense Mutation | ATA,ATG | I,M 21 | XP_011541661.1 |