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TGAATTCGAGCGGCTCTCATAAAGA[A/T]CTGGCTGGCAAGTGAGTATTTCCCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616008 | ||||||||||||||||||||
Literature Links: |
COPS4 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 |
COPS4 - COP9 signalosome subunit 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001258006.1 | 198 | Missense Mutation | GAA,GAT | E,D 21 | NP_001244935.1 | |
NM_016129.2 | 198 | Missense Mutation | GAA,GAT | E,D 21 | NP_057213.2 | |
XM_011532019.1 | 198 | Missense Mutation | GAA,GAT | E,D 21 | XP_011530321.1 |