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TATCCTCCGCACTTACTTGGTACTC[C/G]ATCTCCAGCGAGGCCTTCAGGGGCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
2 submissions
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Phenotype: |
MIM: 616876 | ||||||||||||||||||||
Literature Links: |
CCDC18 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 |
TMED5 - transmembrane p24 trafficking protein 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001167830.1 | 627 | Missense Mutation | ATC,ATG | I,M 60 | NP_001161302.1 | |
NM_016040.4 | 627 | Missense Mutation | ATC,ATG | I,M 60 | NP_057124.3 |