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Search Thermo Fisher Scientific
GAGCTGCCTCCATTCATTCCCCCTC[A/G]CATTCCTGGAGCCCACGTGCTCCTT
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
CCDC57 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)
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EAS
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African American - Not Available | YRI (Yoruba) - Not Available | ||||||
SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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CCDC57 - coiled-coil domain containing 57 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001316321.1 | 2129 | Intron | NP_001303250.1 | |||
NM_198082.2 | 2129 | Intron | NP_932348.2 | |||
XM_011523545.2 | 2129 | Nonsense Mutation | CGA,TGA | R,* 1121 | XP_011521847.2 | |
XM_011523546.2 | 2129 | Nonsense Mutation | CGA,TGA | R,* 1051 | XP_011521848.1 | |
XM_011523548.2 | 2129 | Nonsense Mutation | CGA,TGA | R,* 1031 | XP_011521850.1 | |
XM_011523549.2 | 2129 | Nonsense Mutation | CGA,TGA | R,* 1031 | XP_011521851.1 | |
XM_011523551.2 | 2129 | Nonsense Mutation | CGA,TGA | R,* 1031 | XP_011521853.1 | |
XM_011523552.2 | 2129 | Nonsense Mutation | CGA,TGA | R,* 913 | XP_011521854.1 | |
XM_011523555.2 | 2129 | Nonsense Mutation | CGA,TGA | R,* 850 | XP_011521857.1 | |
XM_011523556.2 | 2129 | Intron | XP_011521858.2 | |||
XM_011523557.2 | 2129 | Nonsense Mutation | CGA,TGA | R,* 658 | XP_011521859.1 | |
XM_017024462.1 | 2129 | Nonsense Mutation | CGA,TGA | R,* 1109 | XP_016879951.1 | |
XM_017024463.1 | 2129 | Intron | XP_016879952.1 | |||
XM_017024464.1 | 2129 | Intron | XP_016879953.1 | |||
XM_017024465.1 | 2129 | Intron | XP_016879954.1 | |||
XM_017024466.1 | 2129 | Intron | XP_016879955.1 | |||
XM_017024467.1 | 2129 | Nonsense Mutation | CGA,TGA | R,* 1031 | XP_016879956.1 | |
XM_017024468.1 | 2129 | Intron | XP_016879957.1 | |||
XM_017024469.1 | 2129 | Nonsense Mutation | CGA,TGA | R,* 947 | XP_016879958.1 | |
XM_017024470.1 | 2129 | Nonsense Mutation | CGA,TGA | R,* 947 | XP_016879959.1 | |
XM_017024471.1 | 2129 | Nonsense Mutation | CGA,TGA | R,* 865 | XP_016879960.1 | |
XM_017024472.1 | 2129 | Nonsense Mutation | CGA,TGA | R,* 850 | XP_016879961.1 | |
XM_017024473.1 | 2129 | Intron | XP_016879962.1 | |||
XM_017024474.1 | 2129 | Intron | XP_016879963.1 | |||
XM_017024475.1 | 2129 | Nonsense Mutation | CGA,TGA | R,* 778 | XP_016879964.1 | |
XM_017024476.1 | 2129 | Nonsense Mutation | CGA,TGA | R,* 658 | XP_016879965.1 | |
XM_017024477.1 | 2129 | Nonsense Mutation | CGA,TGA | R,* 658 | XP_016879966.1 | |
XM_017024478.1 | 2129 | Nonsense Mutation | CGA,TGA | R,* 658 | XP_016879967.1 | |
XM_017024479.1 | 2129 | Intron | XP_016879968.1 | |||
XM_017024480.1 | 2129 | Intron | XP_016879969.1 | |||
XM_017024481.1 | 2129 | Intron | XP_016879970.1 | |||
XM_017024482.1 | 2129 | Intron | XP_016879971.1 | |||
XM_017024483.1 | 2129 | Intron | XP_016879972.1 |