LOC100001132

Ensembl ID:
ENSDARG00000090480
Human Orthologue:
CCDC17
Human Description:
coiled-coil domain containing 17 [Source:HGNC Symbol;Acc:26574]
Mouse Orthologue:
Ccdc17
Mouse Description:
coiled-coil domain containing 17 Gene [Source:MGI Symbol;Acc:MGI:1915667]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa33891 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa33891
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 2017.
Mutation:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000122070 Essential Splice Site 114 490 3 11
Genomic Location (Zv9):
Chromosome 6 (position 33598220)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 33915885
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAAACTCAGGATCTCTTTTGAACAAAACCTGGCAGGAAAACACACTGAGG[T/G]CAGTTTCAGTAGCCTAAAGCTTTTAAAATCTGGTCCTAATGTGAATACTG
Associated Phenotype:
Not determined

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