ctsh

Ensembl ID:
ENSDARG00000041108
ZFIN ID:
ZDB-GENE-030131-3539
Description:
cathepsin H [Source:RefSeq peptide;Acc:NP_997853]
Human Orthologue:
CTSH
Human Description:
cathepsin H [Source:HGNC Symbol;Acc:2535]
Mouse Orthologue:
Ctsh
Mouse Description:
cathepsin H Gene [Source:MGI Symbol;Acc:MGI:107285]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa665 Nonsense F2 line generated During 2014

Mutation Details

Allele Name:
sa665
Current Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000060245 Nonsense 41 330 3 12

The following transcripts of ENSDARG00000041108 do not overlap with this mutation:

Genomic Location:
Chromosome 18 (position 26209213)
KASP Assay ID:
554-0573.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAAGTCTAACTCCANNNTTTCTTTTCAAATTTGCAGTACAATAAAAAATA[T/A]GAGATAAATGAATTTTACCAGCGGCTSCAGATATTCCTGGAGAACAAGAA
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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* quick link - http://q.sanger.ac.uk/u87z0luq