Product Details

SNP ID
rs199422201
Assay Type
Functionally Tested
NCBI dbSNP Submissions
1
Location
Chr.1:197088358 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAACTTTATTACCAGGCTTTTCTCG[T/G]TATATCTGCAAAAGCTCCAATAGTA
Phenotype
MIM: 605481
Polymorphism
T/G, Transversion Substitution
Allele Nomenclature
Literature Links
ASPM PubMed Links

Gene Details

Gene
ASPM
Gene Name
abnormal spindle microtubule assembly
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001206846.1 10316 Nonsense Mutation TAA,TAC *1768Y NP_001193775.1
NM_018136.4 10316 Nonsense Mutation TAA,TAC *3353Y NP_060606.3

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