Product Details

SNP ID

rs763395924

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:28695145 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCATACCTTTCTCTGAGACTTCTG[C/G]CCAGACTTCAGGAATGAAGTTGTAT

Phenotype

MIM: 604373

Polymorphism

C/G, Transversion 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	1249	Missense Mutation	CCA,GCA	P496A	NP_001005735.1
NM_001257387.1	1249	Missense Mutation	CCA,GCA	P232A	NP_001244316.1
NM_007194.3	1249	Missense Mutation	CCA,GCA	P453A	NP_009125.1
NM_145862.2	1249	Missense Mutation	CCA,GCA	P424A	NP_665861.1
XM_006724114.3	1249	Missense Mutation	CCA,GCA	P304A	XP_006724177.2
XM_006724116.2	1249	Missense Mutation	CCA,GCA	P272A	XP_006724179.2
XM_011529839.2	1249	Missense Mutation	CCA,GCA	P506A	XP_011528141.1
XM_011529840.2	1249	Intron			XP_011528142.1
XM_011529841.1	1249	Missense Mutation	CCA,GCA	P429A	XP_011528143.1
XM_011529842.2	1249	Missense Mutation	CCA,GCA	P396A	XP_011528144.1
XM_011529843.1	1249	Missense Mutation	CCA,GCA	P386A	XP_011528145.1
XM_011529844.2	1249	Intron			XP_011528146.1
XM_011529845.2	1249	Missense Mutation	CCA,GCA	P232A	XP_011528147.1
XM_017028560.1	1249	Missense Mutation	CCA,GCA	P494A	XP_016884049.1
XM_017028561.1	1249	Missense Mutation	CCA,GCA	P232A	XP_016884050.1

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