CLN6 (2 of 2)

Ensembl ID:
ENSDARG00000090002
Description:
ceroid-lipofuscinosis, neuronal 6, late infantile, variant [Source:HGNC Symbol;Acc:2077]
Human Orthologue:
CLN6
Human Description:
ceroid-lipofuscinosis, neuronal 6, late infantile, variant [Source:HGNC Symbol;Acc:2077]
Mouse Orthologue:
Cln6
Mouse Description:
ceroid-lipofuscinosis, neuronal 6 Gene [Source:MGI Symbol;Acc:MGI:2159324]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa37974 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa37974
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000127656 Essential Splice Site 155 309 4 7
Genomic Location (Zv9):
Chromosome 25 (position 1383984)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 1248322
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GACACTCAGAGAAAACCCCATTATTAAGAGCATCTCACCACACACACTGG[T/C]AAAACACACACACACACACACACACACACGCACACACACACACACTATAC
Associated Phenotype:
Not determined

GWAS

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

  • Major depressive disorder: Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. (View Study)

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

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