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CTGCCTCTGCCCCTGGGCTGGGTCC[A/G]AGCCACCTTGGCCTTGGCCCGTACT
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 613169 | |||||||||||||||||||||||
Literature Links: |
CCDC71 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 - 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 |
CCDC71 - coiled-coil domain containing 71 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_022903.3 | 1207 | Missense Mutation | CGG,TGG | R,W 357 | NP_075054.3 |
KLHDC8B - kelch domain containing 8B | ||||||
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There are no transcripts associated with this gene. |
LAMB2P1 - laminin subunit beta 2 pseudogene 1 | ||||||
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There are no transcripts associated with this gene. |