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AACCACAGTGTGAAGTTGCCCGAAG[G/T]AAGCTTCAGGAGATTGAGGACAGGT
Species: |
Human | |||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
CCDC117 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 |
CCDC117 - coiled-coil domain containing 117 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001284263.1 | 617 | Missense Mutation | AGG,AGT | R,S 129 | NP_001271192.1 | |
NM_001284264.1 | 617 | Intron | NP_001271193.1 | |||
NM_001284265.1 | 617 | Missense Mutation | AGG,AGT | R,S 15 | NP_001271194.1 | |
NM_173510.3 | 617 | Missense Mutation | AGG,AGT | R,S 147 | NP_775781.1 |