ZMP

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 7 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa11688	Nonsense	Available for shipment	Available now
sa24305	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa11688

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
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Mutation:

C > T

Consequence:

Nonsense

Transcripts:

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
GRCz11	23	20721621

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

ACAACATCATGTTTATGCTTSGTTTTCTTTAGCTGTGTGCAGAGCTGAAG[C/T]AGGCCCAGGCCAAAGTAGCCCAGCATGAGGGGARCGCAGCAGGACAGGTG

Long Flanking Sequence:

TGATATTATGTTGTATAAGAGAAAAACAAGTTTCTAATGCTCATGATCATAAATACAGTAATAACAGAAAACTTAAAAAAACTATATATATATATGTATATATATATATATATATATATATATATATATATAGTTTTTTTAAGTCTGAGTTTCGCGATGTGTATCGTGGTTGGTGTATCGCGAAATTTCGGTTCGGTTTGTAATATCGTTACACCCCCAATATATATATATATTTCAGAATTTTCAGCATCATTACTTTATCTTCAGTGTCACTCAACATTCAGAAATCATTATAAATGCATTCAAATATATATATTTTTACAAATTATTTCAGTGTTAAAATCAATATATGCTTTAATTTGGATTCATTGATAAATAGAAATTTTGGTAAAAGACTGATGTCAGAGACTAGATGTCAGATTTACATAGCACTGTTCATGTTAGTGCTCAACAACATCATGTTTATGCTTGGTTTTCTTTAGCTGTGTGCAGAGCTGAAG[C/T]AGGCCCAGGCCAAAGTAGCCCAGCATGAGGGGAACGCAGCAGGACAGGTGGCAGAGCTGGAGCGACTCCAGCAGAGGGCCAGAGATCTGGAGCTGGAGATGGCCAGAAGCTCTCAGAACCGTCAGACAAACAGCAGCCTAATGGATGAGCTTAATTCACAGAGGTCACGTGTGATCGCTGCTGACAAGAAGGTGTGCGTTTACAACATGCTAGATCTCTCTTGTGCAGTTATCAGGTACATGCTTATTTACCAGTTCCTCAACATCTCTGTAGGTTGTTGAACTGCAGCAGCAACTGAAAAATGCTCTGCACCAACTGCGCCTGGAGGAGGCCAGATCAGGAGAAACCAGCAAACTGGAGAGAGACACCAGAGACATGTCTGATAACCTGTCTGCTCTCAGAGCCCATTTGCAAGAGGAGCAGTTACAGAGGTCAGACATGTCACTGCACCTCAAGCCAATAGCAGTGGTTGACTGATTGGTAGGCCCACACAAAATCTG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa24305

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

Transcripts:

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
GRCz11	23	20725147

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TGCAGGAAGAGCTGAAGCTGGTCGTCCAGCAGCTTGACACAAATGTCAGG[T/C]ATTATTCCTCAATGGCTGAAAATGACAGTAGAGTTTGGCGTAGGTTGCAT

Long Flanking Sequence:

TATTGGTCAATATCTCTGATGATTTGAAGTGCTTCTTTTATCCTCACTCTTAAGCCACTTTGGATACATCTGCCAAATCAGTAGCCAATCTATTGGATTTAACAGTATCTTTCTGTGTTTTCTGATAGGAAATTACTTGAGCAGAAGGATGAGGAGCTCCAGCAGCATGTGCGCTCATTGCGGGCCAAGGAGGCAAGTTTGGTACGCACCAACTTGGAAATATCTCACCGTGTACAGGAGTTGGAGACTCGACTGCAGGTCATGGAGAGTGAACTTAACACAGCTAGAGAAGAGGTTTGTGGGATAACAGTGTCATGCAAATTGTTGAAATAAAATGAGTGTAGCTGATGACCATGAACTACTGATGTGTCCTGCAGCAGAGAAGCGGCCAGAAGAGCTGCCACAGGCTGGAAGAACAGCTGCTGTCTGCCCAGCACGAGTCTGAGAGACTGCAGGAAGAGCTGAAGCTGGTCGTCCAGCAGCTTGACACAAATGTCAGG[T/C]ATTATTCCTCAATGGCTGAAAATGACAGTAGAGTTTGGCGTAGGTTGCATACATTTTTTGGCAATTTGCAGCTAAAAACAAAAAAATAGCATTTTGGTGTTTTATTTACTTTATTGTTTTATTTACTTGTCTGCAACATTTTGAAAACAAAATATTTAAACTTTAAACACTTTCTCCACTAGAGGGTGCATATTCACAACAGACTTTTTTTATTTTTTTTAATATTCATAACAGACAAAAATGTAATTTCATGATGCTGTGACTCATGGGAATCATGGGAGTTGTGGTCTTTATTTCATCTTACAGGACTAAAAATATTACATTTAATTTGTCATGCATCTCCTAGCAGGTTAGCACACGTTTCTGTATGAGTTTGTTGTGTTTTCAGTCTGTTTTTAGTGTATTAAGACCATTTTTTTTCCTGAAACTAGTCCACAACTGTATGATTCTCTTCATTTTAAACGCTATTGACCATTATATCAAATAGACTAGGGCTGAAA

Associated Phenotype:

Not determined