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CCTGGCTGGGGGATGATGCAGCCCG[C/T]GATGGCTGCTGCTTCGTACTTGGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614666 MIM: 611118 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CCDC78 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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CCDC78 - coiled-coil domain containing 78 | ||||||
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There are no transcripts associated with this gene. |
FAM173A - family with sequence similarity 173 member A | ||||||
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There are no transcripts associated with this gene. |
HAGHL - hydroxyacylglutathione hydrolase-like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001290137.1 | 2055 | Intron | NP_001277066.1 | |||
NM_001290139.1 | 2055 | Intron | NP_001277068.1 | |||
NM_001323635.1 | 2055 | Intron | NP_001310564.1 | |||
NM_001323636.1 | 2055 | Intron | NP_001310565.1 | |||
NM_032304.3 | 2055 | Intron | NP_115680.1 | |||
XM_005255631.4 | 2055 | Intron | XP_005255688.1 | |||
XM_005255632.1 | 2055 | Intron | XP_005255689.1 | |||
XM_011522711.1 | 2055 | Intron | XP_011521013.1 | |||
XM_011522712.1 | 2055 | Intron | XP_011521014.1 | |||
XM_017023773.1 | 2055 | Intron | XP_016879262.1 | |||
XM_017023774.1 | 2055 | Intron | XP_016879263.1 |
NARFL - nuclear prelamin A recognition factor like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001304799.1 | 2055 | UTR 3 | NP_001291728.1 | |||
NM_022493.2 | 2055 | UTR 3 | NP_071938.1 |