Product Details

SNP ID
rs550269
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:88815227 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TGCCATTGGAGAAATGAGAACTTGG[C/T]GGGGAGGTCCCGGGTATGGGGGATG
Phenotype
MIM: 102600 MIM: 605525 MIM: 612222
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
APRT PubMed Links
Additional Information
For this assay, SNP(s) [rs79999947] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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 3808 Intron NP_000503.1
NM_001323543.1 3808 Intron NP_001310472.1
NM_001323544.1 3808 Intron NP_001310473.1
XM_005256301.3 3808 UTR 3 XP_005256358.1
XM_011522982.2 3808 UTR 3 XP_011521284.1
XM_017023111.1 3808 Intron XP_016878600.1
XM_017023112.1 3808 UTR 3 XP_016878601.1
XM_017023113.1 3808 UTR 3 XP_016878602.1
Gene
LOC107987238
Gene Name
proline-rich proteoglycan 2-like
There are no transcripts associated with this gene.

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