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AGTTTGCAGAGTTTAGGGGAAGAGT[C/T]ATCCAGGTAAGTAAGTAAAATCACA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
1 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 |
CCDC18 - coiled-coil domain containing 18 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001306076.1 | 773 | Missense Mutation | TCA,TTA | S,L 43 | NP_001293005.1 | |
NM_206886.4 | 773 | Missense Mutation | TCA,TTA | S,L 43 | NP_996769.3 | |
XM_011541361.2 | 773 | Missense Mutation | TCA,TTA | S,L 161 | XP_011539663.2 | |
XM_011541372.2 | 773 | Missense Mutation | TCA,TTA | S,L 161 | XP_011539674.2 | |
XM_017001154.1 | 773 | Missense Mutation | TCA,TTA | S,L 161 | XP_016856643.1 | |
XM_017001155.1 | 773 | Missense Mutation | TCA,TTA | S,L 161 | XP_016856644.1 | |
XM_017001156.1 | 773 | Missense Mutation | TCA,TTA | S,L 151 | XP_016856645.1 | |
XM_017001157.1 | 773 | Missense Mutation | TCA,TTA | S,L 161 | XP_016856646.1 | |
XM_017001158.1 | 773 | Missense Mutation | TCA,TTA | S,L 161 | XP_016856647.1 | |
XM_017001159.1 | 773 | Missense Mutation | TCA,TTA | S,L 161 | XP_016856648.1 | |
XM_017001160.1 | 773 | Missense Mutation | TCA,TTA | S,L 161 | XP_016856649.1 | |
XM_017001161.1 | 773 | Missense Mutation | TCA,TTA | S,L 161 | XP_016856650.1 | |
XM_017001162.1 | 773 | Missense Mutation | TCA,TTA | S,L 43 | XP_016856651.1 | |
XM_017001163.1 | 773 | Missense Mutation | TCA,TTA | S,L 43 | XP_016856652.1 | |
XM_017001164.1 | 773 | Missense Mutation | TCA,TTA | S,L 43 | XP_016856653.1 | |
XM_017001165.1 | 773 | Missense Mutation | TCA,TTA | S,L 161 | XP_016856654.1 | |
XM_017001166.1 | 773 | Silent Mutation | GTC,GTT | V,V 10 | XP_016856655.1 | |
XM_017001167.1 | 773 | Intron | XP_016856656.1 | |||
XM_017001168.1 | 773 | Intron | XP_016856657.1 | |||
XM_017001169.1 | 773 | Missense Mutation | TCA,TTA | S,L 161 | XP_016856658.1 | |
XM_017001170.1 | 773 | Intron | XP_016856659.1 | |||
XM_017001171.1 | 773 | Intron | XP_016856660.1 |
TMED5 - transmembrane p24 trafficking protein 5 | ||||||
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There are no transcripts associated with this gene. |