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TTCGACATGGAGGCCACTGGCTTGC[C/T]CTTCTCCCAGCCCAAGGTCACGGAG
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606605 MIM: 607290 MIM: 606609 | |||||||||||||||||||||||
Literature Links: |
ATRIP 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 |
ATRIP - ATR interacting protein | ||||||
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There are no transcripts associated with this gene. |
SHISA5 - shisa family member 5 | ||||||
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There are no transcripts associated with this gene. |
TREX1 - three prime repair exonuclease 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_007248.3 | 1210 | Missense Mutation | CCC,CTC | P,L 15 | NP_009179.2 | |
NM_016381.5 | 1210 | Missense Mutation | CCC,CTC | P,L 80 | NP_057465.1 | |
NM_033629.4 | 1210 | Missense Mutation | CCC,CTC | P,L 25 | NP_338599.1 |