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TTCAATTGTTTCTCTAAAACCAGGT[C/G]CCATCCGGAAGATGGATCGGCTTCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613799 MIM: 616637 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CCDC40 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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CCDC40 - coiled-coil domain containing 40 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001243342.1 | 63 | Missense Mutation | TCC,TGC | S,C 11 | NP_001230271.1 | |
NM_017950.3 | 63 | Missense Mutation | TCC,TGC | S,C 11 | NP_060420.2 | |
XM_005257492.4 | 63 | Missense Mutation | TCC,TGC | S,C 11 | XP_005257549.1 | |
XM_011524963.2 | 63 | UTR 5 | XP_011523265.1 | |||
XM_011524964.2 | 63 | Intron | XP_011523266.1 | |||
XM_011524965.2 | 63 | Missense Mutation | TCC,TGC | S,C 11 | XP_011523267.1 | |
XM_017024807.1 | 63 | Missense Mutation | TCC,TGC | S,C 11 | XP_016880296.1 |
TBC1D16 - TBC1 domain family member 16 | ||||||
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There are no transcripts associated with this gene. |