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TTAGGTTTATCTGCATGGTATTGGA[A/G]TAACTCACAGGGATATTAAACCAGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603078 MIM: 601134 | ||||||||||||||||||||
Literature Links: |
CHEK1 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 |
CHEK1 - checkpoint kinase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001114121.2 | 460 | Missense Mutation | ATA,GTA | I,V 126 | NP_001107593.1 | |
NM_001114122.2 | 460 | Missense Mutation | ATA,GTA | I,V 126 | NP_001107594.1 | |
NM_001244846.1 | 460 | Missense Mutation | ATA,GTA | I,V 126 | NP_001231775.1 | |
NM_001274.5 | 460 | Missense Mutation | ATA,GTA | I,V 126 | NP_001265.2 | |
XM_011542560.2 | 460 | Missense Mutation | ATA,GTA | I,V 142 | XP_011540862.1 | |
XM_011542561.2 | 460 | Missense Mutation | ATA,GTA | I,V 142 | XP_011540863.1 | |
XM_011542562.2 | 460 | Missense Mutation | ATA,GTA | I,V 59 | XP_011540864.1 | |
XM_011542563.2 | 460 | Missense Mutation | ATA,GTA | I,V 32 | XP_011540865.1 | |
XM_017017146.1 | 460 | Missense Mutation | ATA,GTA | I,V 126 | XP_016872635.1 |
STT3A - STT3A, catalytic subunit of the oligosaccharyltransferase complex | ||||||
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There are no transcripts associated with this gene. |