Product Details

SNP ID
rs74675152
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:88814481 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTTCTTGGGAATGGATTCTGGAGG[C/T]GTCAGACACTTCCCTAACTTTTCAC
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
There are no transcripts associated with this gene.

Gene
GALNS
Gene Name
galactosamine (N-acetyl)-6-sulfatase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000512.4 1496 Silent Mutation ACA,ACG T509T NP_000503.1
NM_001323543.1 1496 Silent Mutation ACA,ACG T324T NP_001310472.1
NM_001323544.1 1496 Silent Mutation ACA,ACG T515T NP_001310473.1
XM_005256301.3 1496 UTR 3 XP_005256358.1
XM_011522982.2 1496 UTR 3 XP_011521284.1
XM_017023111.1 1496 Intron XP_016878600.1
XM_017023112.1 1496 UTR 3 XP_016878601.1
XM_017023113.1 1496 UTR 3 XP_016878602.1
Gene
LOC107987238
Gene Name
proline-rich proteoglycan 2-like
There are no transcripts associated with this gene.

View Full Product Details