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TGGGGAAAATGGGAAAAGCAACAAG[A/G]CAACTAGTAGGTATCACTTACCTTA
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 - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
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 | 2782 | UTR 3 | NP_001135774.1 | |||
NM_014157.3 | 2782 | UTR 3 | NP_054876.2 | |||
XM_011523038.2 | 2782 | UTR 3 | XP_011521340.1 | |||
XM_011523039.2 | 2782 | UTR 3 | XP_011521341.1 | |||
XM_011523040.2 | 2782 | UTR 3 | XP_011521342.1 | |||
XM_011523041.2 | 2782 | UTR 3 | XP_011521343.1 | |||
XM_011523042.2 | 2782 | Intron | XP_011521344.1 | |||
XM_017023176.1 | 2782 | UTR 3 | XP_016878665.1 | |||
XM_017023177.1 | 2782 | UTR 3 | XP_016878666.1 | |||
XM_017023178.1 | 2782 | 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 | 2782 | Intron | NP_001073961.1 | |||
NM_001305173.1 | 2782 | Intron | NP_001292102.1 | |||
NM_001305174.1 | 2782 | Intron | NP_001292103.1 |