Basic Information

C5

Full name: complement C5

Gene type: protein coding

HGNC ID: HGNC:1331

Gene location: 9q33.2

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/727

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:1331

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_001735.3

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P01031

AlphaFold: https://alphafold.ebi.ac.uk/entry/P01031

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/120900

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=727

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa04080+727

Variant resources

Gene Disease type Variant type NCBI dbSNP Alleles Variant location
C5 nAMD Synonymous Variant rs10985126 T>C chr9:121021656 (GRCh38.p13)
C5 Synonymous Variant rs25681 G>A chr9:121017727 (GRCh38.p13)
C5 nAMD Intron Variant rs1017119 T>C chr9:121045260 (GRCh38.p13)
C5 nAMD Intron Variant rs1548782 T>A / T>C / T>G chr9:121007564 (GRCh38.p13)
C5 nAMD Missense Variant rs17611 C>T chr9:121006922 (GRCh38.p13)
C5 nAMD Intron Variant rs2269066 C>T chr9:120974740 (GRCh38.p13)
C5 nAMD synonymous Variant rs12237774 C>A / C>G / C>T chr9:120963693 (GRCh38.p13)
C5 Intron Variant rs7033790 T>A / T>C / T>G chr9:121026114 (GRCh38.p13)
C5 Intron Variant rs7026551 A>C chr9:120970855 (GRCh38.p13)
C5 Intron Variant rs10818495 A>C / A>G chr9:120994909 (GRCh38.p13)
C5 Intron Variant rs1468673 C>G / C>T chr9:121047612 (GRCh38.p13)
C5 Intron Variant rs16910280 C>T chr9:121042498 (GRCh38.p13)
C5 Intron Variant rs1978270 T>A / T>C / T>G chr9:121000398 (GRCh38.p13)
C5 Intron Variant rs7027797 T>C chr9:121009521 (GRCh38.p13)
C5 Intron Variant rs7031128 C>A / C>G / C>T chr9:121029658 (GRCh38.p13)
C5 Intron Variant rs7037673 C>G / C>T chr9:120978206 (GRCh38.p13)
C5 Intron Variant rs7040033 G>A / G>C / G>T chr9:120996766 (GRCh38.p13)
C5 Intron Variant rs992670 G>A / G>T chr9:121019492(GRCh38.p13)