Product Details

SNP ID

rs201191528

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:197086873 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGCTTATAGAAGAATTCTTCTTTT[G/T]CTTGTAAAGTATTCTTTCAGTATTC

Phenotype

MIM: 605481

Polymorphism

G/T, 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	10518	Missense Mutation	AAA,CAA	K1836Q	NP_001193775.1
NM_018136.4	10518	Missense Mutation	AAA,CAA	K3421Q	NP_060606.3

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