Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AAGAGCTGCCCACCCACCCACCTTC[A/C]GCTTGAGTGGGTCCGTGTCTTTAGC
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 | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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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 | 3928 | Missense Mutation | CGG,CTG | R,L 1139 | NP_001305063.1 | |
NM_005255.3 | 3928 | Missense Mutation | CGG,CTG | R,L 1218 | NP_005246.2 | |
XM_005272268.2 | 3928 | Missense Mutation | CGG,CTG | R,L 1207 | XP_005272325.1 | |
XM_005272270.2 | 3928 | Missense Mutation | CGG,CTG | R,L 1143 | XP_005272327.1 | |
XM_011513425.2 | 3928 | Missense Mutation | CGG,CTG | R,L 1262 | XP_011511727.1 | |
XM_011513426.2 | 3928 | Missense Mutation | CGG,CTG | R,L 1251 | XP_011511728.1 | |
XM_011513427.2 | 3928 | Missense Mutation | CGG,CTG | R,L 1232 | XP_011511729.1 | |
XM_011513428.2 | 3928 | Missense Mutation | CGG,CTG | R,L 1213 | XP_011511730.1 | |
XM_011513429.2 | 3928 | Missense Mutation | CGG,CTG | R,L 1200 | XP_011511731.1 | |
XM_011513430.1 | 3928 | Missense Mutation | CGG,CTG | R,L 1183 | XP_011511732.1 | |
XM_011513431.2 | 3928 | Missense Mutation | CGG,CTG | R,L 1179 | XP_011511733.1 | |
XM_011513432.2 | 3928 | Missense Mutation | CGG,CTG | R,L 1174 | XP_011511734.1 | |
XM_011513434.2 | 3928 | Missense Mutation | CGG,CTG | R,L 1126 | XP_011511736.1 | |
XM_017007991.1 | 3928 | Missense Mutation | CGG,CTG | R,L 1188 | XP_016863480.1 | |
XM_017007992.1 | 3928 | Missense Mutation | CGG,CTG | R,L 1153 | XP_016863481.1 | |
XM_017007993.1 | 3928 | Missense Mutation | CGG,CTG | R,L 1126 | XP_016863482.1 | |
XM_017007994.1 | 3928 | Intron | XP_016863483.1 | |||
XM_017007995.1 | 3928 | Missense Mutation | CGG,CTG | R,L 1038 | XP_016863484.1 |