Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCCCATGTAGACTGTGTCATCCTGC[C/T]GCTCCTCCTTGGCCTGGTGGTTGAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601143 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DCTN1 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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DCTN1 - dynactin subunit 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001135040.2 | 3679 | Missense Mutation | CAG,CGG | Q,R 1213 | NP_001128512.1 | |
NM_001135041.2 | 3679 | Missense Mutation | CAG,CGG | Q,R 1099 | NP_001128513.1 | |
NM_001190836.1 | 3679 | Missense Mutation | CAG,CGG | Q,R 1196 | NP_001177765.1 | |
NM_001190837.1 | 3679 | Missense Mutation | CAG,CGG | Q,R 1231 | NP_001177766.1 | |
NM_004082.4 | 3679 | Missense Mutation | CAG,CGG | Q,R 1238 | NP_004073.2 | |
NM_023019.3 | 3679 | Missense Mutation | CAG,CGG | Q,R 1104 | NP_075408.1 |