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TAGGGGCAGCGCCCTCGTTTGAGCC[G/T]CTGCACCAGGTTCTGGATGTTGCGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614666 MIM: 611118 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CCDC78 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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CCDC78 - coiled-coil domain containing 78 | ||||||
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There are no transcripts associated with this gene. |
FAM173A - family with sequence similarity 173 member A | ||||||
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There are no transcripts associated with this gene. |
HAGHL - hydroxyacylglutathione hydrolase-like | ||||||
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There are no transcripts associated with this gene. |
NARFL - nuclear prelamin A recognition factor like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001304799.1 | 1188 | Silent Mutation | AGG,CGG | R,R 277 | NP_001291728.1 | |
NM_022493.2 | 1188 | Silent Mutation | AGG,CGG | R,R 379 | NP_071938.1 |