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CTTTCTTCTACAGTTTTCTCACTTT[C/T]GCCATCAGGCACTGGAGCATCTGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
CCDC53 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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CCDC53 - coiled-coil domain containing 53 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001301107.1 | 691 | Missense Mutation | CAA,TAA | Q,* 176 | NP_001288036.1 | |
NM_016053.3 | 691 | Missense Mutation | CAA,TAA | Q,* 177 | NP_057137.1 | |
XM_011538423.1 | 691 | Intron | XP_011536725.1 | |||
XM_017019383.1 | 691 | Intron | XP_016874872.1 |