Product Details

SNP ID
rs3218725
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:88804814 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCAACGGGCCCGGGAGCTGGGGG[C/T]AAGAGTCCGGGCGCTGAAGGCCAGT
Phenotype
MIM: 102600 MIM: 605525 MIM: 612222
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
APRT PubMed Links

Gene Details

Gene
APRT
Gene Name
adenine phosphoribosyltransferase
There are no transcripts associated with this gene.

Gene
CDT1
Gene Name
chromatin licensing and DNA replication factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_030928.3 458 Missense Mutation GCA,GTA A135V NP_112190.2
Gene
GALNS
Gene Name
galactosamine (N-acetyl)-6-sulfatase
There are no transcripts associated with this gene.

View Full Product Details