Product Details

SNP ID

rs587782684

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:28687962 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGGCACCCTCGGCTTCCCCTTCAC[G/-]GGGCCGCTTTCGACTAGTAGAAGGC

Phenotype

MIM: 604373 MIM: 615098

Polymorphism

G/-, Insertion/deletion

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	1459	Frame Shift Delete	CGT,GTG	R566V	NP_001005735.1
NM_001257387.1	1459	Frame Shift Delete	CGT,GTG	R302V	NP_001244316.1
NM_007194.3	1459	Frame Shift Delete	CGT,GTG	R523V	NP_009125.1
NM_145862.2	1459	Frame Shift Delete	CGT,GTG	R494V	NP_665861.1
XM_006724114.3	1459	Frame Shift Delete	CGT,GTG	R374V	XP_006724177.2
XM_006724116.2	1459	Frame Shift Delete	CGT,GTG	R342V	XP_006724179.2
XM_011529839.2	1459	Frame Shift Delete	CGT,GTG	R576V	XP_011528141.1
XM_011529840.2	1459	Intron			XP_011528142.1
XM_011529841.1	1459	Frame Shift Delete	CGT,GTG	R499V	XP_011528143.1
XM_011529842.2	1459	Frame Shift Delete	CGT,GTG	R466V	XP_011528144.1
XM_011529843.1	1459	Frame Shift Delete	CGT,GTG	R456V	XP_011528145.1
XM_011529844.2	1459	Intron			XP_011528146.1
XM_011529845.2	1459	Frame Shift Delete	CGT,GTG	R302V	XP_011528147.1
XM_017028560.1	1459	Frame Shift Delete	CGT,GTG	R564V	XP_016884049.1
XM_017028561.1	1459	Frame Shift Delete	CGT,GTG	R302V	XP_016884050.1

Gene

TTC28

Gene Name

tetratricopeptide repeat domain 28

There are no transcripts associated with this gene.

View Full Product Details