Product Details

SNP ID
rs201153945
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:88814468 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGACCAGAGGCACTTCTTGGGAA[C/T]GGATTCTGGAGGTGTCAGACACTTC
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 1509 Missense Mutation ATT,GTT I514V NP_000503.1
NM_001323543.1 1509 Missense Mutation ATT,GTT I329V NP_001310472.1
NM_001323544.1 1509 Missense Mutation ATT,GTT I520V NP_001310473.1
XM_005256301.3 1509 UTR 3 XP_005256358.1
XM_011522982.2 1509 UTR 3 XP_011521284.1
XM_017023111.1 1509 Intron XP_016878600.1
XM_017023112.1 1509 UTR 3 XP_016878601.1
XM_017023113.1 1509 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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