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CCATCAGGTGCTGGAGGCCCCTGGT[A/G]TCTACGTGTTTGGAGAACTGCTGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616009 | ||||||||||||||||||||
Literature Links: |
COPS7A 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 |
COPS7A - COP9 signalosome subunit 7A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001164093.1 | 492 | Missense Mutation | ATC,GTC | I,V 40 | NP_001157565.1 | |
NM_001164094.1 | 492 | Missense Mutation | ATC,GTC | I,V 40 | NP_001157566.1 | |
NM_001164095.2 | 492 | Missense Mutation | ATC,GTC | I,V 40 | NP_001157567.1 | |
NM_016319.3 | 492 | Missense Mutation | ATC,GTC | I,V 40 | NP_057403.1 | |
XM_005253694.2 | 492 | Missense Mutation | ATC,GTC | I,V 40 | XP_005253751.1 |