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CCACCAGGTCGGCCATGCCCACGGG[C/T]GTCCAGCGGCTCTCCCCGTCCCACA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602052 | ||||||||||||||||||||
Literature Links: |
GAK 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 |
GAK - cyclin G associated kinase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318134.1 | 4025 | Silent Mutation | ACA,ACG | T,T 1171 | NP_001305063.1 | |
NM_005255.3 | 4025 | Silent Mutation | ACA,ACG | T,T 1250 | NP_005246.2 | |
XM_005272268.2 | 4025 | Silent Mutation | ACA,ACG | T,T 1239 | XP_005272325.1 | |
XM_005272270.2 | 4025 | Silent Mutation | ACA,ACG | T,T 1175 | XP_005272327.1 | |
XM_011513425.2 | 4025 | Silent Mutation | ACA,ACG | T,T 1294 | XP_011511727.1 | |
XM_011513426.2 | 4025 | Silent Mutation | ACA,ACG | T,T 1283 | XP_011511728.1 | |
XM_011513427.2 | 4025 | Silent Mutation | ACA,ACG | T,T 1264 | XP_011511729.1 | |
XM_011513428.2 | 4025 | Silent Mutation | ACA,ACG | T,T 1245 | XP_011511730.1 | |
XM_011513429.2 | 4025 | Silent Mutation | ACA,ACG | T,T 1232 | XP_011511731.1 | |
XM_011513430.1 | 4025 | Silent Mutation | ACA,ACG | T,T 1215 | XP_011511732.1 | |
XM_011513431.2 | 4025 | Silent Mutation | ACA,ACG | T,T 1211 | XP_011511733.1 | |
XM_011513432.2 | 4025 | Silent Mutation | ACA,ACG | T,T 1206 | XP_011511734.1 | |
XM_011513434.2 | 4025 | Silent Mutation | ACA,ACG | T,T 1158 | XP_011511736.1 | |
XM_017007991.1 | 4025 | Silent Mutation | ACA,ACG | T,T 1220 | XP_016863480.1 | |
XM_017007992.1 | 4025 | Silent Mutation | ACA,ACG | T,T 1185 | XP_016863481.1 | |
XM_017007993.1 | 4025 | Silent Mutation | ACA,ACG | T,T 1158 | XP_016863482.1 | |
XM_017007994.1 | 4025 | Intron | XP_016863483.1 | |||
XM_017007995.1 | 4025 | Silent Mutation | ACA,ACG | T,T 1070 | XP_016863484.1 |