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TAGGAAGACTTTCTCTTTTCCAATA[C/G]AGTAAGTGCCACAGACAACAAGAGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609682 | ||||||||||||||||||||
Literature Links: |
DCLRE1A 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 |
DCLRE1A - DNA cross-link repair 1A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271816.1 | 3423 | Missense Mutation | TCT,TGT | S,C 880 | NP_001258745.1 | |
NM_014881.4 | 3423 | Missense Mutation | TCT,TGT | S,C 880 | NP_055696.3 | |
XM_006718090.1 | 3423 | Missense Mutation | TCT,TGT | S,C 880 | XP_006718153.1 | |
XM_011540429.1 | 3423 | Missense Mutation | TCT,TGT | S,C 880 | XP_011538731.1 |