Hs07009580_cn

• Gene Symbol: SMUG1
• Assay Reference Genome Location: Chr.12:54175493 on build GRCh38
• Cytoband: 12q13.13

Target Gene Details

• Entrez Gene ID: 23583
• Gene Name: single-strand-selective monofunctional uracil-DNA glycosylase 1
• Gene Aliases: FDG, HMUDG, UNG3
• Location: Chr.12:54171815-54188994 on Build GRCh38
• Assay Gene Location: Within Intron 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMUG1	XM_011538123.2			XP_011536425.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv509467	Chr.12:54173617 - 54255598 on Build GRCh38	Insertion	CBX5 SMUG1 MIR3198-2
nsv832419	Chr.12:54064043 - 54259156 on Build GRCh38	Loss	LOC100240734 CBX5 SMUG1 LOC400043 LOC100240735 MIR3198-2 FLJ12825
nsv832420	Chr.12:54137272 - 54296797 on Build GRCh38	Loss	HNRNPA1 CBX5 SMUG1 NFE2 MIR3198-2
nsv832418	Chr.12:54016556 - 54186660 on Build GRCh38	Loss	LOC100240734 MIR615 HOXC4 SMUG1 LOC400043 HOXC5 HOXC6 LOC100240735 FLJ12825

More Information

Additional Information:

For this assay, SNP(s) [rs115971807] are located under a primer or 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.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

DNA metabolism protein, DNA glycosylase, nucleic acid metabolism protein

Gene Ontology Categories:

Process(es)

base-excision repair
depyrimidination

Function(s)

oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity
DNA binding
uracil DNA N-glycosylase activity
protein binding
single-strand selective uracil DNA N-glycosylase activity
DNA N-glycosylase activity