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CTTGCTCAGGGTCGGTCACCACATA[C/T]TCATCCGGGGGTAAGAAGAAACCAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607593 | ||||||||||||||||||||
Literature Links: |
MDC1 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 |
MDC1 - mediator of DNA damage checkpoint 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014641.2 | 5927 | Silent Mutation | GAA,GAG | E,E 1967 | NP_055456.2 | |
XM_005249492.2 | 5927 | Silent Mutation | GAA,GAG | E,E 1988 | XP_005249549.1 | |
XM_005249493.3 | 5927 | Silent Mutation | GAA,GAG | E,E 1987 | XP_005249550.1 | |
XM_005249494.4 | 5927 | Silent Mutation | GAA,GAG | E,E 1967 | XP_005249551.1 | |
XM_005249497.3 | 5927 | Silent Mutation | GAA,GAG | E,E 1798 | XP_005249554.1 | |
XM_005249498.3 | 5927 | Silent Mutation | GAA,GAG | E,E 1724 | XP_005249555.1 | |
XM_011515001.2 | 5927 | Silent Mutation | GAA,GAG | E,E 1967 | XP_011513303.1 | |
XM_011515003.2 | 5927 | Silent Mutation | GAA,GAG | E,E 1967 | XP_011513305.1 | |
XM_011515004.2 | 5927 | Silent Mutation | GAA,GAG | E,E 1839 | XP_011513306.1 | |
XM_017011519.1 | 5927 | Silent Mutation | GAA,GAG | E,E 1967 | XP_016867008.1 | |
XM_017011520.1 | 5927 | Silent Mutation | GAA,GAG | E,E 1966 | XP_016867009.1 | |
XM_017011521.1 | 5927 | Silent Mutation | GAA,GAG | E,E 1777 | XP_016867010.1 | |
XM_017011522.1 | 5927 | Silent Mutation | GAA,GAG | E,E 1723 | XP_016867011.1 |
MDC1-AS1 - MDC1 antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |