Product Details

SNP ID

rs199859140

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:28696915 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAATTTCTTACCTTTATAAGACAGT[C/G]CTCTTCTTGAGATGACAGTAAAACA

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	973	Missense Mutation	CAC,GAC	H404D	NP_001005735.1
NM_001257387.1	973	Missense Mutation	CAC,GAC	H140D	NP_001244316.1
NM_007194.3	973	Missense Mutation	CAC,GAC	H361D	NP_009125.1
NM_145862.2	973	Intron			NP_665861.1
XM_006724114.3	973	Missense Mutation	CAC,GAC	H212D	XP_006724177.2
XM_006724116.2	973	Missense Mutation	CAC,GAC	H180D	XP_006724179.2
XM_011529839.2	973	Missense Mutation	CAC,GAC	H414D	XP_011528141.1
XM_011529840.2	973	Intron			XP_011528142.1
XM_011529841.1	973	Missense Mutation	CAC,GAC	H337D	XP_011528143.1
XM_011529842.2	973	Missense Mutation	CAC,GAC	H304D	XP_011528144.1
XM_011529843.1	973	Missense Mutation	CAC,GAC	H294D	XP_011528145.1
XM_011529844.2	973	Intron			XP_011528146.1
XM_011529845.2	973	Missense Mutation	CAC,GAC	H140D	XP_011528147.1
XM_017028560.1	973	Missense Mutation	CAC,GAC	H402D	XP_016884049.1
XM_017028561.1	973	Missense Mutation	CAC,GAC	H140D	XP_016884050.1

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