Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTGGACAGCAGGGCCCGGATGTTCC[A/G]CTCCTTGCCCTCAATCCAGTCCAGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 602052 | ||||||||||||||||||||
Literature Links: |
GAK PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
GAK - cyclin G associated kinase | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318134.1 | 3960 | Missense Mutation | CGG,TGG | R,W 1150 | NP_001305063.1 | |
NM_005255.3 | 3960 | Missense Mutation | CGG,TGG | R,W 1229 | NP_005246.2 | |
XM_005272268.2 | 3960 | Missense Mutation | CGG,TGG | R,W 1218 | XP_005272325.1 | |
XM_005272270.2 | 3960 | Missense Mutation | CGG,TGG | R,W 1154 | XP_005272327.1 | |
XM_011513425.2 | 3960 | Missense Mutation | CGG,TGG | R,W 1273 | XP_011511727.1 | |
XM_011513426.2 | 3960 | Missense Mutation | CGG,TGG | R,W 1262 | XP_011511728.1 | |
XM_011513427.2 | 3960 | Missense Mutation | CGG,TGG | R,W 1243 | XP_011511729.1 | |
XM_011513428.2 | 3960 | Missense Mutation | CGG,TGG | R,W 1224 | XP_011511730.1 | |
XM_011513429.2 | 3960 | Missense Mutation | CGG,TGG | R,W 1211 | XP_011511731.1 | |
XM_011513430.1 | 3960 | Missense Mutation | CGG,TGG | R,W 1194 | XP_011511732.1 | |
XM_011513431.2 | 3960 | Missense Mutation | CGG,TGG | R,W 1190 | XP_011511733.1 | |
XM_011513432.2 | 3960 | Missense Mutation | CGG,TGG | R,W 1185 | XP_011511734.1 | |
XM_011513434.2 | 3960 | Missense Mutation | CGG,TGG | R,W 1137 | XP_011511736.1 | |
XM_017007991.1 | 3960 | Missense Mutation | CGG,TGG | R,W 1199 | XP_016863480.1 | |
XM_017007992.1 | 3960 | Missense Mutation | CGG,TGG | R,W 1164 | XP_016863481.1 | |
XM_017007993.1 | 3960 | Missense Mutation | CGG,TGG | R,W 1137 | XP_016863482.1 | |
XM_017007994.1 | 3960 | Intron | XP_016863483.1 | |||
XM_017007995.1 | 3960 | Missense Mutation | CGG,TGG | R,W 1049 | XP_016863484.1 |