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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