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CCTTTGTCTCTTACTTTGGGGGCTG[C/T]TGATTCTTGGTTAAGTTTGGTCCGT
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 | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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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 | 5697 | Missense Mutation | ACA,GCA | T,A 1891 | NP_055456.2 | |
XM_005249492.2 | 5697 | Missense Mutation | ACA,GCA | T,A 1912 | XP_005249549.1 | |
XM_005249493.3 | 5697 | Missense Mutation | ACA,GCA | T,A 1911 | XP_005249550.1 | |
XM_005249494.4 | 5697 | Missense Mutation | ACA,GCA | T,A 1891 | XP_005249551.1 | |
XM_005249497.3 | 5697 | Missense Mutation | ACA,GCA | T,A 1722 | XP_005249554.1 | |
XM_005249498.3 | 5697 | Missense Mutation | ACA,GCA | T,A 1648 | XP_005249555.1 | |
XM_011515001.2 | 5697 | Missense Mutation | ACA,GCA | T,A 1891 | XP_011513303.1 | |
XM_011515003.2 | 5697 | Missense Mutation | ACA,GCA | T,A 1891 | XP_011513305.1 | |
XM_011515004.2 | 5697 | Missense Mutation | ACA,GCA | T,A 1763 | XP_011513306.1 | |
XM_017011519.1 | 5697 | Missense Mutation | ACA,GCA | T,A 1891 | XP_016867008.1 | |
XM_017011520.1 | 5697 | Missense Mutation | ACA,GCA | T,A 1890 | XP_016867009.1 | |
XM_017011521.1 | 5697 | Missense Mutation | ACA,GCA | T,A 1701 | XP_016867010.1 | |
XM_017011522.1 | 5697 | Missense Mutation | ACA,GCA | T,A 1647 | XP_016867011.1 |
MDC1-AS1 - MDC1 antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |