Product Details

SNP ID
rs2070256
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:88809695 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GGAGATGTTGGGCTGGGAGGCCCTG[C/T]GGTCACTCATACTGCAGGAGAGAGA
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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000485.2 581 UTR 3 NP_000476.1
NM_001030018.1 581 UTR 3 NP_001025189.1
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_030928.3 581 Intron NP_112190.2
Gene
GALNS
Gene Name
galactosamine (N-acetyl)-6-sulfatase
There are no transcripts associated with this gene.

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