Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616070 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
CCDC113 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
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CEPH (CEU)
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EAS
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African American
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YRI (Yoruba)
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SAS
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Japanese
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JPT (Japanese)
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AFR
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Chinese
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CHB (Han Chinese)
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EUR
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AMR
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CCDC113 - coiled-coil domain containing 113 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142302.1 | 1803 | UTR 3 | NP_001135774.1 | |||
NM_014157.3 | 1803 | UTR 3 | NP_054876.2 | |||
XM_011523038.2 | 1803 | UTR 3 | XP_011521340.1 | |||
XM_011523039.2 | 1803 | UTR 3 | XP_011521341.1 | |||
XM_011523040.2 | 1803 | UTR 3 | XP_011521342.1 | |||
XM_011523041.2 | 1803 | UTR 3 | XP_011521343.1 | |||
XM_011523042.2 | 1803 | Intron | XP_011521344.1 | |||
XM_017023176.1 | 1803 | UTR 3 | XP_016878665.1 | |||
XM_017023177.1 | 1803 | UTR 3 | XP_016878666.1 | |||
XM_017023178.1 | 1803 | Intron | XP_016878667.1 |
PRSS54 - protease, serine 54 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001080492.1 | 1803 | Missense Mutation | ACC,GCC | T,A 295 | NP_001073961.1 | |
NM_001305173.1 | 1803 | Missense Mutation | ACC,GCC | T,A 295 | NP_001292102.1 | |
NM_001305174.1 | 1803 | Missense Mutation | ACC,GCC | T,A 196 | NP_001292103.1 |
Set Membership: |
HapMap Validated |