Product Details

SNP ID: rs200049178
Assay Type: Functionally tested
NCBI dbSNP Submissions: 1
Location: Chr.1:11920321 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGCAGGACTGTTAGTTCACTCAGAC[A/T]CTGGGATCTTCCTGTTCAATTCACA
Phenotype
Polymorphism: A/T, Transversion substitution
Allele Nomenclature
Literature Links: KIAA2013 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138346.2	2090	Missense Mutation	AGA,AGT	R633S	NP_612355.1
XM_005263531.4	2090	Intron			XP_005263588.1