LOC569425

Ensembl ID:
ENSDARG00000086283
Human Orthologue:
CNST
Human Description:
consortin, connexin sorting protein [Source:HGNC Symbol;Acc:26486]
Mouse Orthologue:
Cnst
Mouse Description:
consortin, connexin sorting protein Gene [Source:MGI Symbol;Acc:MGI:2445141]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa7431 Missense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa7431
Current Status:
Mutation detected in F1 DNA
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 > G
Consequence:
Missense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000126501 Missense 513 575 10 10
Genomic Location:
Chromosome 17 (position 11998020)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CAATATTATTGTTGCTNCTNCNTTAATATGCAGATGAKGTGGCCGGTGAC[T/G]CGTGGCTGCTYCTCCTCCTGCTGTGTTTGGCTACAGTGGTRATCAGTGTG
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/jd8eub27