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GCTCACCTTTGCTTGCAACAGCTCT[A/G]CAGTCTCCTGGGGATGGAAGTTGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607376 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DCTN2 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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DCTN2 - dynactin subunit 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001261412.1 | 1050 | Missense Mutation | GCA,GTA | A,V 263 | NP_001248341.1 | |
NM_001261413.1 | 1050 | Missense Mutation | GCA,GTA | A,V 261 | NP_001248342.1 | |
NM_006400.4 | 1050 | Missense Mutation | GCA,GTA | A,V 266 | NP_006391.1 | |
XM_011537761.2 | 1050 | Missense Mutation | GCA,GTA | A,V 174 | XP_011536063.1 |
MBD6 - methyl-CpG binding domain protein 6 | ||||||
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There are no transcripts associated with this gene. |