CCDC30 (1 of 2)

Ensembl ID:
ENSDARG00000056961
Description:
coiled-coil domain containing 30 [Source:HGNC Symbol;Acc:26103]
Human Orthologue:
CCDC30
Human Description:
coiled-coil domain containing 30 [Source:HGNC Symbol;Acc:26103]
Mouse Orthologue:
Ccdc30
Mouse Description:
coiled-coil domain containing 30 Gene [Source:MGI Symbol;Acc:MGI:1920582]

Alleles

There are 6 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa39404 Essential Splice Site Mutation detected in F1 DNA During 2016
sa29909 Nonsense Mutation detected in F1 DNA During 2016
sa43959 Essential Splice Site Mutation detected in F1 DNA During 2016
sa37681 Essential Splice Site Mutation detected in F1 DNA During 2016
sa11688 Nonsense Available for shipment Available now
sa24305 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa39404
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 2016.
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079538 Essential Splice Site 265 1207 7 27
Genomic Location (Zv9):
Chromosome 23 (position 21003872)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 20788979
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GAGGAGGTAGAGCAATTAAAACAGGAAGTGGATAAGCTGAAACAGTGTGG[T/A]AAGATTGTGTCTGATACTGTTCCATGATATCACATGTCTCTTAAAAAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa29909
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 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079538 Nonsense 439 1207 12 27
Genomic Location (Zv9):
Chromosome 23 (position 21005514)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 20790621
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGAGAAAGAGGGACAATAAGAAAGTTGAAAAAAAGGATGAAGATCTGTTT[C/T]GAGGGACTGACTCTGAGGTAAAAATTAAGATAATGTGGAAAAAAAACCCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43959
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 2016.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079538 Essential Splice Site 532 1207 14 27
Genomic Location (Zv9):
Chromosome 23 (position 21007998)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 20793105
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CAAGAACCTCACGCAGGTTAAAGGAGAAAAGGGAATTTTGGAAGAAAAAG[T/C]AAGATCATTTAAGTATTTACTGCTTATTGCATTTTTATCACAGCTAATCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37681
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 2016.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079538 Essential Splice Site 533 1207 15 27
Genomic Location (Zv9):
Chromosome 23 (position 21008110)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 20793217
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGCTGGGATACTTCCTGTCGCTTGCAAATGCCAATGAGGTTGTGTTTGCA[G/A]GTGGCCCAGTTGGAGCGTGCTCAGTCTCGAATCCAGGATGACCTGACCCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11688
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
Order Allele From EZRC
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079538 Nonsense 771 1207 19 27
Genomic Location (Zv9):
Chromosome 23 (position 21010171)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 20795278
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACAACATCATGTTTATGCTTSGTTTTCTTTAGCTGTGTGCAGAGCTGAAG[C/T]AGGCCCAGGCCAAAGTAGCCCAGCATGAGGGGARCGCAGCAGGACAGGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24305
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
Order Allele From EZRC
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079538 Essential Splice Site 983 1207 22 27
Genomic Location (Zv9):
Chromosome 23 (position 21013697)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 20798804
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGCAGGAAGAGCTGAAGCTGGTCGTCCAGCAGCTTGACACAAATGTCAGG[T/C]ATTATTCCTCAATGGCTGAAAATGACAGTAGAGTTTGGCGTAGGTTGCAT
Associated Phenotype:
Not determined

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

Short-link