Product Details

SNP ID
rs147458720
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:9759265 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAGATGCCTCCTGAAGAATTACAG[A/T]CTTCTTCCTCTAGACTTGGAGGTGA
Phenotype
MIM: 604998 MIM: 601982
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
CAMK1 PubMed Links

Gene Details

Gene
CAMK1
Gene Name
calcium/calmodulin dependent protein kinase I
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003656.4 1167 Intron NP_003647.1
XM_005265516.1 1167 Intron XP_005265573.1
XM_005265517.2 1167 Intron XP_005265574.1
XM_017007354.1 1167 Intron XP_016862843.1
Gene
OGG1
Gene Name
8-oxoguanine DNA glycosylase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002542.5 1167 Intron NP_002533.1
NM_016819.3 1167 Intron NP_058212.1
NM_016820.3 1167 Intron NP_058213.1
NM_016821.2 1167 Intron NP_058214.1
NM_016826.2 1167 Intron NP_058434.1
NM_016827.2 1167 Intron NP_058436.1
NM_016828.2 1167 Missense Mutation ACT,TCT T343S NP_058437.1
NM_016829.2 1167 UTR 3 NP_058438.1
XM_011533760.1 1167 Intron XP_011532062.1
XM_017006493.1 1167 Intron XP_016861982.1
XM_017006494.1 1167 Missense Mutation ACT,TCT T277S XP_016861983.1
XM_017006495.1 1167 Intron XP_016861984.1
XM_017006496.1 1167 Intron XP_016861985.1
XM_017006497.1 1167 Missense Mutation ACT,TCT T277S XP_016861986.1
XM_017006498.1 1167 Missense Mutation ACT,TCT T277S XP_016861987.1
XM_017006499.1 1167 Intron XP_016861988.1

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