Product Details

SNP ID

rs148460469

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:88805493 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCATGCCCTGGCCCAGCCCGGCC[G/T]GCCGGGACTCGTGCTGCCCTACAAG

Phenotype

MIM: 102600 MIM: 605525 MIM: 612222

Polymorphism

G/T, Transversion 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	596	Missense Mutation	CGG,CTG	R181L	NP_112190.2

Gene

GALNS

Gene Name

galactosamine (N-acetyl)-6-sulfatase

There are no transcripts associated with this gene.

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