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GCGCAGGAGTGGCCGGGCGCCGGGT[C/G]CAGCGCAGACCAGGACGACGAGGAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603810 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MED17 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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MED17 - mediator complex subunit 17 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004268.4 | 499 | Missense Mutation | TCC,TGC | S,C 75 | NP_004259.3 | |
XM_011543068.2 | 499 | Missense Mutation | TCC,TGC | S,C 75 | XP_011541370.1 |