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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 - Not Available | Caucasian - Not Available | CEPH (CEU)
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EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS - Not Available | Chinese - Not Available | JPT (Japanese)
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AFR - Not Available | Japanese - Not Available | CHB (Han Chinese)
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EUR - Not Available | |||||
AMR - Not Available |
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 | 173 | Missense Mutation | AGT,GGT | S,G 48 | NP_001230271.1 | |
NM_017950.3 | 173 | Missense Mutation | AGT,GGT | S,G 48 | NP_060420.2 | |
XM_005257492.4 | 173 | Missense Mutation | AGT,GGT | S,G 48 | XP_005257549.1 | |
XM_011524963.2 | 173 | Missense Mutation | AGT,GGT | S,G 18 | XP_011523265.1 | |
XM_011524964.2 | 173 | Intron | XP_011523266.1 | |||
XM_011524965.2 | 173 | Missense Mutation | AGT,GGT | S,G 48 | XP_011523267.1 | |
XM_017024807.1 | 173 | Missense Mutation | AGT,GGT | S,G 48 | XP_016880296.1 |
TBC1D16 - TBC1 domain family member 16 | ||||||
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There are no transcripts associated with this gene. |