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Search Thermo Fisher Scientific
GACGGGACGCCGGGCATACTTTCGG[C/T]GATGCTGCTCGTCCACTCGCTCCAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
2 submissions
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Phenotype: |
MIM: 600234 MIM: 606879 | ||||||||||||||||||||
Literature Links: |
HMGCS2 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 |
HMGCS2 - 3-hydroxy-3-methylglutaryl-CoA synthase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001166107.1 | 1587 | Missense Mutation | CAC,CGC | H,R 458 | NP_001159579.1 | |
NM_005518.3 | 1587 | Missense Mutation | CAC,CGC | H,R 500 | NP_005509.1 | |
XM_011541313.1 | 1587 | Missense Mutation | CAC,CGC | H,R 445 | XP_011539615.1 |
PHGDH - phosphoglycerate dehydrogenase | ||||||
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There are no transcripts associated with this gene. |