Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACCATACCGTCCTTCTGGTTAATAC[C/T]TGCAAAAATCTCACCATCTTCTATC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 604665 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COPS3 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
COPS3 - COP9 signalosome subunit 3 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199125.1 | 1023 | Missense Mutation | AGT,GGT | S,G 330 | NP_001186054.1 | |
NM_001316354.1 | 1023 | Missense Mutation | AGT,GGT | S,G 220 | NP_001303283.1 | |
NM_001316355.1 | 1023 | Missense Mutation | AGT,GGT | S,G 292 | NP_001303284.1 | |
NM_001316356.1 | 1023 | Missense Mutation | AGT,GGT | S,G 283 | NP_001303285.1 | |
NM_001316357.1 | 1023 | Missense Mutation | AGT,GGT | S,G 245 | NP_001303286.1 | |
NM_001316358.1 | 1023 | Missense Mutation | AGT,GGT | S,G 245 | NP_001303287.1 | |
NM_003653.3 | 1023 | Missense Mutation | AGT,GGT | S,G 350 | NP_003644.2 | |
XM_005256837.4 | 1023 | Missense Mutation | AGT,GGT | S,G 330 | XP_005256894.1 | |
XM_005256840.3 | 1023 | Missense Mutation | AGT,GGT | S,G 220 | XP_005256897.1 | |
XM_005256842.4 | 1023 | Missense Mutation | AGT,GGT | S,G 220 | XP_005256899.1 | |
XM_017025246.1 | 1023 | Missense Mutation | AGT,GGT | S,G 245 | XP_016880735.1 |