Basic Information
SMUG1
Full name: single-strand-selective monofunctional uracil-DNA glycosylase 1
Gene type: protein coding
HGNC ID: HGNC:17148
Gene location: 12q13.13
Gene resources
NCBI: https://www.ncbi.nlm.nih.gov/gene/23583
Alliance of genome: https://www.alliancegenome.org/gene/HGNC:17148
MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_001243787.2
Protein resources
UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/Q53HV7
AlphaFold: https://alphafold.ebi.ac.uk/entry/Q53HV7
MEME motif:
Clinical resources
Pathway resources
KEGG pathway: https://www.genome.jp/pathway/hsa03410+23583
Variant resources
Gene | Disease type | Variant type | NCBI dbSNP | Alleles | Variant location |
---|---|---|---|---|---|
SMUG1 | AMD | Non Coding Transcript Variant | rs3087404 | T>C | chr12:54187830 (GRCh38.p13) |