Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGCCACCTTACCTGGTTGACCTGCC[C/T]GAGCCATTTGTACCCCACTGAGCAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
4 submissions
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Phenotype: |
MIM: 607956 MIM: 615463 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MED8 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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MED8 - mediator complex subunit 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001001653.2 | 776 | Missense Mutation | CAG,CGG | Q,R 154 | NP_001001653.1 | |
NM_052877.4 | 776 | Missense Mutation | CAG,CGG | Q,R 243 | NP_443109.2 | |
NM_201542.4 | 776 | Missense Mutation | CAG,CGG | Q,R 243 | NP_963836.2 |
SZT2 - seizure threshold 2 homolog (mouse) | ||||||
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There are no transcripts associated with this gene. |