Product Details

SNP ID
rs143611747
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:28699893 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGCTTGCAGGTAGCTTCTTTCAGG[C/T]GTTTATTCCCCACCACTTTGTCAAA
Phenotype
MIM: 604373
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CHEK2 PubMed Links

Gene Details

Gene
CHEK2
Gene Name
checkpoint kinase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001005735.1 845 Missense Mutation NP_001005735.1
NM_001257387.1 845 Missense Mutation NP_001244316.1
NM_007194.3 845 Missense Mutation NP_009125.1
NM_145862.2 845 Missense Mutation NP_665861.1
XM_006724114.3 845 Missense Mutation XP_006724177.2
XM_006724116.2 845 Missense Mutation XP_006724179.2
XM_011529839.2 845 Missense Mutation XP_011528141.1
XM_011529840.2 845 Intron XP_011528142.1
XM_011529841.1 845 Missense Mutation XP_011528143.1
XM_011529842.2 845 Missense Mutation XP_011528144.1
XM_011529843.1 845 Missense Mutation XP_011528145.1
XM_011529844.2 845 Missense Mutation XP_011528146.1
XM_011529845.2 845 Missense Mutation XP_011528147.1
XM_017028560.1 845 Missense Mutation XP_016884049.1
XM_017028561.1 845 Missense Mutation XP_016884050.1

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