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Gene : C1S Homo sapiens

Name  ? complement C1s Cytological Location  12p13.31
Brief Description  complement C1s
Description  This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009]
  • synonyms:
  • complement component 1, s subcomponent,
  • uc001qsj.4,
  • OTTHUMG00000150305,
  • HGNC:1247,
  • NM_001734,
  • EDSPD2,
  • C1S
  • identifiers:
  • 716,
  • ENSG00000182326,
  • C1S

Genome feature

Region: gene ? Length: 10315  
Location: 12:7060718-7071032 Cyto location: 12p13.31


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

226 SN Ps

5 Cross References

20 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results