Basic Information

SERPING1

Full name: serpin family G member 1

Gene type: protein coding

HGNC ID: HGNC:1228

Gene location: 11q12.1

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/710

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:1228

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_000062.3

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P05155

AlphaFold: https://alphafold.ebi.ac.uk/entry/P05155

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/606860

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=710

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa04610+710

Variant resources

Gene Disease type Variant type NCBI dbSNP Alleles Variant location
SERPING1 Intron Variant rs2511989 C>T chr11:57610852 (GRCh38.p13)
SERPING1 AMD N/A rs2509897 C>G / C>T chr11:57595144 (GRCh38.p13
SERPING1 AMD Intron Variant rs2511990 A>C / A>G / A>T chr11:57595235 (GRCh38.p13)
SERPING1 AMD Intron Variant rs1005511 C>T chr11:57599183 (GRCh38.p13)
SERPING1 AMD Intron Variant rs2508443 G>A / G>C / G>T chr11:57610519 (GRCh38.p13)
SERPING1 AMD Missense Variant rs4926 G>A / G>C chr11:57614516 (GRCh38.p13)
SERPING1 Visual acuity score changes from baseline nAMD Intron Variant rs1005510 C>A / C>T chr11:57599749 (GRCh38.p13)
SERPING1 rs3025030
SERPING1 AMD Intron Variant rs11603020 T>C / T>G chr11:57606859 (GRCh38.p13)
SERPING1 AMD N/A rs2244169 T>A / T>C / T>G chr11:57592329 (GRCh38.p13)