CNBD1

Ensembl ID:
ENSDARG00000091489
Description:
cyclic nucleotide binding domain containing 1 [Source:HGNC Symbol;Acc:26663]
Human Orthologue:
CNBD1
Human Description:
cyclic nucleotide binding domain containing 1 [Source:HGNC Symbol;Acc:26663]
Mouse Orthologue:
Cnbd1
Mouse Description:
cyclic nucleotide binding domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:3650508]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa24525 Essential Splice Site Mutation detected in F1 DNA During 2014
sa10559 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa24525
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 > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000126380 Essential Splice Site 274 439 8 13
ENSDART00000126380 Essential Splice Site 274 439 8 13
Genomic Location:
Chromosome 24 (position 32711600)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AACCACCTGGTGGACGGCATGCAGCTCAAAACATTCCCAGCTAATCAAGG[T/A]AAGTGGATGTTTCCATTTGAAAATGTTCTGTCACAATAAATCACACCGAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10559
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000126380 Essential Splice Site 274 439 8 13
ENSDART00000126380 Essential Splice Site 274 439 8 13
Genomic Location:
Chromosome 24 (position 32711600)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AACCACCTGGTGGACGGCATGCAGCTCAAAACATTCCCAGCTAATCAAGG[T/C]AAGTGGATGTTTCCATTTGAAAATGTTCTGTCACAATAAATCACACCGAC
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/67rm6zu4