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AGAATTTCTCCAAAACTTGAAGTTC[A/T]TCAGGTTTCCACTGTCCTGCATTTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300182 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MED14 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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MED14 - mediator complex subunit 14 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004229.3 | 3878 | Missense Mutation | GAA,GAT | E,D 1276 | NP_004220.2 | |
XM_005272701.2 | 3878 | Missense Mutation | GAA,GAT | E,D 1160 | XP_005272758.1 | |
XM_011544000.2 | 3878 | Missense Mutation | GAA,GAT | E,D 1160 | XP_011542302.1 | |
XM_017029962.1 | 3878 | Missense Mutation | GAA,GAT | E,D 1160 | XP_016885451.1 |