Product Details

SNP ID

rs201679731

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:197088321 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAACAAGTTTTTGTAAAAATGCTTC[C/T]GCCTTTGTCTGCAACTTTATTACCA

Phenotype

MIM: 605481

Polymorphism

C/T, Transition 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	10353	Missense Mutation	AGA,GGA	R1781G	NP_001193775.1
NM_018136.4	10353	Missense Mutation	AGA,GGA	R3366G	NP_060606.3

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