Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CACTGTCCCACACCCACCTGAAGCC[A/G]CGGGTGTCTTAAGGCTTCTTCTGTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604373 | ||||||||||||||||||||
Literature Links: |
CHEK2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
CHEK2 - checkpoint kinase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001005735.1 | 1345 | Missense Mutation | CGG,TGG | R,W 528 | NP_001005735.1 | |
NM_001257387.1 | 1345 | Missense Mutation | CGG,TGG | R,W 264 | NP_001244316.1 | |
NM_007194.3 | 1345 | Missense Mutation | CGG,TGG | R,W 485 | NP_009125.1 | |
NM_145862.2 | 1345 | Missense Mutation | CGG,TGG | R,W 456 | NP_665861.1 | |
XM_006724114.3 | 1345 | Missense Mutation | CGG,TGG | R,W 336 | XP_006724177.2 | |
XM_006724116.2 | 1345 | Missense Mutation | CGG,TGG | R,W 304 | XP_006724179.2 | |
XM_011529839.2 | 1345 | Missense Mutation | CGG,TGG | R,W 538 | XP_011528141.1 | |
XM_011529840.2 | 1345 | Intron | XP_011528142.1 | |||
XM_011529841.1 | 1345 | Missense Mutation | CGG,TGG | R,W 461 | XP_011528143.1 | |
XM_011529842.2 | 1345 | Missense Mutation | CGG,TGG | R,W 428 | XP_011528144.1 | |
XM_011529843.1 | 1345 | Missense Mutation | CGG,TGG | R,W 418 | XP_011528145.1 | |
XM_011529844.2 | 1345 | Intron | XP_011528146.1 | |||
XM_011529845.2 | 1345 | Missense Mutation | CGG,TGG | R,W 264 | XP_011528147.1 | |
XM_017028560.1 | 1345 | Missense Mutation | CGG,TGG | R,W 526 | XP_016884049.1 | |
XM_017028561.1 | 1345 | Missense Mutation | CGG,TGG | R,W 264 | XP_016884050.1 |