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CACCATCAGACCTTCTTGGAGTCCA[A/T]CAGGTGAGCGCTGCCGAGGCCCGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
12 submissions
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Phenotype: |
MIM: 611901 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ATAD3C 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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ATAD3C - ATPase family, AAA domain containing 3C | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001039211.2 | 1144 | Missense Mutation | AAC,ATC | N,I 50 | NP_001034300.2 |
VWA1 - von Willebrand factor A domain containing 1 | ||||||
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There are no transcripts associated with this gene. |