Product Details
- SNP ID
-
rs2306242
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.4:849932 on Build GRCh38
- Set Membership
-
HapMap
- Context Sequence [VIC/FAM]
- AGCCAGCACCGCGCGGCGATAGTGC[C/T]TCTTCACTTGCTCCGGAGCCACCAG
- Phenotype
-
MIM: 602052
- Polymorphism
- C/T, Transition Substitution
- Allele Nomenclature
-
- Literature Links
-
GAK
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs55728587] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Gene Details
- Gene
- GAK
- Gene Name
- cyclin G associated kinase
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001318134.1 |
4069 |
Missense Mutation |
AAG,AGG |
K1186R |
NP_001305063.1 |
NM_005255.3 |
4069 |
Missense Mutation |
AAG,AGG |
K1265R |
NP_005246.2 |
XM_005272268.2 |
4069 |
Missense Mutation |
AAG,AGG |
K1254R |
XP_005272325.1 |
XM_005272270.2 |
4069 |
Missense Mutation |
AAG,AGG |
K1190R |
XP_005272327.1 |
XM_011513425.2 |
4069 |
Missense Mutation |
AAG,AGG |
K1309R |
XP_011511727.1 |
XM_011513426.2 |
4069 |
Missense Mutation |
AAG,AGG |
K1298R |
XP_011511728.1 |
XM_011513427.2 |
4069 |
Missense Mutation |
AAG,AGG |
K1279R |
XP_011511729.1 |
XM_011513428.2 |
4069 |
Missense Mutation |
AAG,AGG |
K1260R |
XP_011511730.1 |
XM_011513429.2 |
4069 |
Missense Mutation |
AAG,AGG |
K1247R |
XP_011511731.1 |
XM_011513430.1 |
4069 |
Missense Mutation |
AAG,AGG |
K1230R |
XP_011511732.1 |
XM_011513431.2 |
4069 |
Missense Mutation |
AAG,AGG |
K1226R |
XP_011511733.1 |
XM_011513432.2 |
4069 |
Missense Mutation |
AAG,AGG |
K1221R |
XP_011511734.1 |
XM_011513434.2 |
4069 |
Missense Mutation |
AAG,AGG |
K1173R |
XP_011511736.1 |
XM_017007991.1 |
4069 |
Missense Mutation |
AAG,AGG |
K1235R |
XP_016863480.1 |
XM_017007992.1 |
4069 |
Missense Mutation |
AAG,AGG |
K1200R |
XP_016863481.1 |
XM_017007993.1 |
4069 |
Missense Mutation |
AAG,AGG |
K1173R |
XP_016863482.1 |
XM_017007994.1 |
4069 |
Intron |
|
|
XP_016863483.1 |
XM_017007995.1 |
4069 |
Missense Mutation |
AAG,AGG |
K1085R |
XP_016863484.1 |
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