Product Details

SNP ID

rs143195635

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:197088263 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAACTGACTAATACTTACAGAGGCT[C/G]TATTTGTTGTCTTCAGTAAAATAGC

Phenotype

MIM: 605481

Polymorphism

C/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	10411	Missense Mutation	ACA,AGA	T1800R	NP_001193775.1
NM_018136.4	10411	Missense Mutation	ACA,AGA	T3385R	NP_060606.3

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