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CAGGCACTCACCACCTCCTCGATGA[C/T]GGGCTCGGGCTTGGCGGCCTCCAGC
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
CCDC12 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 - 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 |
CCDC12 - coiled-coil domain containing 12 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001277074.1 | 488 | Missense Mutation | ATC,GTC | I,V 98 | NP_001264003.1 | |
NM_144716.5 | 488 | Missense Mutation | ATC,GTC | I,V 111 | NP_653317.2 | |
XM_011533390.2 | 488 | Missense Mutation | ATC,GTC | I,V 118 | XP_011531692.1 | |
XM_011533391.2 | 488 | Missense Mutation | ATC,GTC | I,V 111 | XP_011531693.1 | |
XM_011533392.2 | 488 | Missense Mutation | ATC,GTC | I,V 111 | XP_011531694.1 | |
XM_011533393.2 | 488 | Missense Mutation | ATC,GTC | I,V 105 | XP_011531695.1 | |
XM_011533394.2 | 488 | Missense Mutation | ATC,GTC | I,V 89 | XP_011531696.1 | |
XM_011533396.2 | 488 | Missense Mutation | ATC,GTC | I,V 89 | XP_011531698.1 |