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TATGGACTATATTTAATTGCTTACC[G/T]TGAAACTATTCTGGTCCTTACAGGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
4 submissions
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Phenotype: |
MIM: 605481 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ASPM 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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ASPM - abnormal spindle microtubule assembly | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001206846.1 | 10587 | Silent Mutation | AGA,CGA | R,R 1859 | NP_001193775.1 | |
NM_018136.4 | 10587 | Silent Mutation | AGA,CGA | R,R 3444 | NP_060606.3 |