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Gene : GALK1 Homo sapiens

Name  ? galactokinase 1 Cytological Location  17q25.1
Brief Description  galactokinase 1
description  Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. [provided by RefSeq, Jul 2008]
  • synonyms:
  • OTTHUMG00000179832,
  • uc032frw.2,
  • GALK,
  • HGNC:4118,
  • NM_000154,
  • GK1,
  • GALK1,
  • GALK,
  • HEL-S-19
  • identifiers:
  • 2584,
  • ENSG00000108479,
  • GALK1

Genome feature

Region: gene ? Length: 7299  
Location: 17:75757894-75765192 reverse strand Cyto location: 17q25.1


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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

1 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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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

502 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results