Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCCGCTGCTGTCGGCTCTGCTCCAA[C/T]GCTACAACGCGGACCGTCTGCGTCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
5 submissions
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Phenotype: |
MIM: 607622 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PMVK PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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PMVK - phosphomevalonate kinase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001323011.1 | 722 | Silent Mutation | GCA,GCG | A,A 119 | NP_001309940.1 | |
NM_001323012.1 | 722 | Silent Mutation | GCA,GCG | A,A 58 | NP_001309941.1 | |
NM_006556.3 | 722 | Silent Mutation | GCA,GCG | A,A 133 | NP_006547.1 |