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TTCTCCTTGGAGTCCTTGCCCTCCC[A/G]GGCATCGTCCCAGATCAGCACTGCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300947 MIM: 300840 MIM: 300526 | ||||||||||||||||||||
Literature Links: |
CCDC120 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) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
CCDC120 - coiled-coil domain containing 120 | ||||||
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There are no transcripts associated with this gene. |
PRAF2 - PRA1 domain family member 2 | ||||||
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There are no transcripts associated with this gene. |
WDR45 - WD repeat domain 45 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001029896.1 | 698 | Missense Mutation | CGG,TGG | R,W 86 | NP_001025067.1 | |
NM_007075.3 | 698 | Missense Mutation | CGG,TGG | R,W 87 | NP_009006.2 |