Product Details
- SNP ID
-
rs201493311
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:17249015 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ACCATACCGTCCTTCTGGTTAATAC[C/T]TGCAAAAATCTCACCATCTTCTATC
- Phenotype
-
MIM: 604665
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
COPS3
PubMed Links
Gene Details
- Gene
- COPS3
- Gene Name
- COP9 signalosome subunit 3
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001199125.1 |
1023 |
Missense Mutation |
AGT,GGT |
S330G |
NP_001186054.1 |
NM_001316354.1 |
1023 |
Missense Mutation |
AGT,GGT |
S220G |
NP_001303283.1 |
NM_001316355.1 |
1023 |
Missense Mutation |
AGT,GGT |
S292G |
NP_001303284.1 |
NM_001316356.1 |
1023 |
Missense Mutation |
AGT,GGT |
S283G |
NP_001303285.1 |
NM_001316357.1 |
1023 |
Missense Mutation |
AGT,GGT |
S245G |
NP_001303286.1 |
NM_001316358.1 |
1023 |
Missense Mutation |
AGT,GGT |
S245G |
NP_001303287.1 |
NM_003653.3 |
1023 |
Missense Mutation |
AGT,GGT |
S350G |
NP_003644.2 |
XM_005256837.4 |
1023 |
Missense Mutation |
AGT,GGT |
S330G |
XP_005256894.1 |
XM_005256840.3 |
1023 |
Missense Mutation |
AGT,GGT |
S220G |
XP_005256897.1 |
XM_005256842.4 |
1023 |
Missense Mutation |
AGT,GGT |
S220G |
XP_005256899.1 |
XM_017025246.1 |
1023 |
Missense Mutation |
AGT,GGT |
S245G |
XP_016880735.1 |
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