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CTGATTTCCCACCAGGTAGCCCTCC[A/G]GGCTAGGTCCCCTTCCTCCTAGTGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601336 MIM: 611857 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CCDC142 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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CCDC142 - coiled-coil domain containing 142 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032779.3 | 2513 | Missense Mutation | CCG,CTG | P,L 707 | NP_116168.3 |
MOGS - mannosyl-oligosaccharide glucosidase | ||||||
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There are no transcripts associated with this gene. |
MRPL53 - mitochondrial ribosomal protein L53 | ||||||
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There are no transcripts associated with this gene. |
TTC31 - tetratricopeptide repeat domain 31 | ||||||
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There are no transcripts associated with this gene. |