Product Details

SNP ID: rs200901437
Assay Type: Functionally tested
NCBI dbSNP Submissions: 14
Location: Chr.1:180916618 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GATGGAGGCCCCAGGCTTCCCAGGC[C/T]GCCTGCCCCTGGACGTGAGTACTGC
Phenotype
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: KIAA1614 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020950.1	582	Missense Mutation	CCG,CTG	P172L	NP_066001.1