Product Details

SNP ID: rs201618193
Assay Type: Functionally tested
NCBI dbSNP Submissions: 18
Location: Chr.1:93873123 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TAATTAAGTCACTGTACTTACTCTG[C/T]GTTTTTTCTGAAGTTGATACTTTGA
Phenotype: MIM: 611199
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: DNTTIP2 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014597.4	1956	Missense Mutation	CAC,CGC	H633R	NP_055412.2