CCDC135

Ensembl ID:
ENSDARG00000075654
Description:
coiled-coil domain containing 135 [Source:HGNC Symbol;Acc:25289]
Human Orthologue:
CCDC135
Human Description:
coiled-coil domain containing 135 [Source:HGNC Symbol;Acc:25289]
Mouse Orthologue:
Ccdc135
Mouse Description:
coiled-coil domain containing 135 Gene [Source:MGI Symbol;Acc:MGI:2685616]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa24597 Nonsense Mutation detected in F1 DNA During 2014
sa24596 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa24597
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:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109207 Nonsense 113 843 3 17
Genomic Location:
Chromosome 25 (position 5047972)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTCTTCACTATATTTTCAGAAGTTTGTAAGCACCACCTTGCGAAGCTCCT[T/G]ACTTCCATATCCTGAGCTTTACGATTGGGAAGGATGTGCCAGTTTTGTGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24596
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
ENSDART00000109207 Essential Splice Site 487 843 10 17
Genomic Location:
Chromosome 25 (position 5043716)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AATGTGACAACTGAGCATTTTAGACCTGGAAGAAGTGATGCTCTTAAATG[T/A]AATCAAACACACATTTAATTAGTTTCTGATGTCAAAACTTGCCTGAGCAA
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/xsc8w4st