Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTCAGAAACCACTCATGAAAAATAG[C/G]AGGATGCCTGGGCAGGAGAAATTCT
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 601215 | |||||||||||||||||||||||
Literature Links: |
ATR PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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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 |
ATR - ATR serine/threonine kinase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001184.3 | 7197 | Missense Mutation | CCT,GCT | P,A 2434 | NP_001175.2 | |
XM_011512924.1 | 7197 | Missense Mutation | CCT,GCT | P,A 2436 | XP_011511226.1 | |
XM_011512925.1 | 7197 | Missense Mutation | CCT,GCT | P,A 2372 | XP_011511227.1 | |
XM_011512926.2 | 7197 | Intron | XP_011511228.1 | |||
XM_017006643.1 | 7197 | Missense Mutation | CCT,GCT | P,A 2370 | XP_016862132.1 |