Busch Lab

ZMP

LOC100329473

Ensembl ID:
ENSDARG00000078440
Human Orthologue:
CCDC88A
Human Description:
coiled-coil domain containing 88A [Source:HGNC Symbol;Acc:25523]
Mouse Orthologue:
Ccdc88a
Mouse Description:
coiled coil domain containing 88A Gene [Source:MGI Symbol;Acc:MGI:1925177]

Alleles

There are 8 alleles of this gene:

Allele Name Consequence Status Availability
sa12136 Essential Splice Site Available for shipment Available now
sa17212 Nonsense Available for shipment Available now
sa11239 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa12136
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
T > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000115018 Essential Splice Site 54 1255 2 24
Genomic Location (Zv9):
Chromosome 6 (position 6260814)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 6186830
GRCz11 6 6343999
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACACTGAATTAATAGATGGCATATTCCTGAACAAAGTCATGAATCAGATG[T/G]AAGTAYATGTCCATCTGCACACAGTTATTTTATCTAAGCACTTCAATCAG
Long Flanking Sequence:
ATATAAAATAATAATTTTGTCATGACATTAAAATTGTTTAAAATGCTTTGCTGACAAATGGATACAACCTAGGATAGAAGCAATGGTAAAATTATTTAATTAAATTATTTATGGATCATCAAATAATATGTACACATTCTAGTTTATGTGGAAAAAGCATTTGAAGCTGCATCAGACCATTTAGTCCTTGGCCTATAATCTAAAAATATATTATATAGTGTTGTTGTTAGCCTAAATCCTCCTCCATTGTGTATAGAAGTGCACATATTTATACATTGTCTCACTAAATTTCCCATTCTCAAAAGTGATGTTGTGTGGGGAATGATCCTCTGCTGCTGTACAATACTTCATGACTTCGGTGCACTGTGTTAACCAACCATTATGTTTGTGTTTTGAAGGTTAAGACATTAGGACAACTAGGTGACAAAGAGGGGAACGTGCTCTCTGAATACACTGAATTAATAGATGGCATATTCCTGAACAAAGTCATGAATCAGATG[T/G]AAGTACATGTCCATCTGCACACAGTTATTTTATCTAAGCACTTCAATCAGCACAGTAAGCATTCCGTTTTAATGTGTTTGAGGTTTTATTTATCTAAAGGTTTTATTTCAGAAGACATTCAGAAGTTGGAAATACTTTTATTTAGTTAGTTAGAAAAATTTGAATTGATCAAAGATGATAGCAAAGACAAAGATACTAAACAGCACAAAATTGTCAACTTTAATGTTCATGAGAAATATGTCTTAAGCACAAAATCAGCATGTTAGAATGATTTCTGGAGTAATTATGTGCAAAGATTGAGCTTTGTATTAAAATTACCTGAAAAATAATATAATATAAATAAATATGAATAATATAATAAACAAAATAATTCACAGTTTTGTTGAATTGCTCGGTTTTTGTTAAAATAAATAAATATAAATATAAATGTAGTCTTGGTGAACATAAAAAAAGACTTCTATTATATATATATATATATATATATATATATATATATATAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17212
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000115018 Nonsense 180 1255 7 24
Genomic Location (Zv9):
Chromosome 6 (position 6247698)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 6173714
GRCz11 6 6330883
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTCAGGAGAATGTGTTTGATCTGCACTGGTTGGAGATGGAGGGACTGTG[T/A]CCGGARGAATGGGAAAACCTCTGCAGAAGTTTGTCCGTTAAYCTCAAAAT
Long Flanking Sequence:
TATCCCAAATGGAGTACTAACTTTTTATTTACTATACAGAAATTTTCCCGGGCAACATTTCATAAATTAAGAAAATACATTTCCAATCTATCATGAATACAACCATATACACCTTTTTTTCACCAGTTTTGCTTTAACTATCTAAAATAAATGTTTAAATCCAACCTAAATCCCTGATAGCTCCTCCCCCTTCTGTATTTGAGAATTTAGAGTTTTCAGTGTAAATGCACACACTATTTATACTACAAAATGTCCTAGAATAATGCATAAGTATGTGATTTGGAATGTACCCAATGTGTCTAATGTTTTTAAAAGATAACATATCAGAGTGACTTTGTTTAAAGTTTATGAACAGCATGAAACATATCTATTATGTGTGTTTTTGCCATTTGAATCAAGCAGTAGGTAAATGCTAATTGGACCATTTTTATTGTACTCCAGGTAACTCACTGTCAGGAGAATGTGTTTGATCTGCACTGGTTGGAGATGGAGGGACTGTG[T/A]CCGGAGGAATGGGAAAACCTCTGCAGAAGTTTGTCCGTTAATCTCAAAATGTTAGTGGACCAGCGAGACCGCCAATTTGAGGTATCTTCAAAAGTCCCCCCACTTTTCTCAGGAATAATCACTCAGTTTTAAATAGGTTTCTGGCTAACCATCTGACAAGGTTCTTGCAAAATAATGAATAAATGTTTTTCTGGTAACATTTCTATCATGTTATTTAGCCATATTTAGACTTAGAAAAACTTGTTCATGCTTTTATTAGCAGCAGGGTGGATTACTGTTACTCAGATCTTTAGGATCAAATAAACTAGAAGTTCCAAGAGTTTAGTCAAAGCAGGGTGAATTAGCTTTCAGCAACTATGCTCCTCGCTGCTGGAATCAGCTTCCAGAAATGATCAGATGTGCTCCCACATTAGGCATGTTCAAATCAAGACTGAAAAACATCTGTTTAGCTGTGCCTTTACTGAATGAGCACTGTGCTACATCCGACAAATCGCACTATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11239
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
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000115018 Nonsense 591 1255 13 24
Genomic Location (Zv9):
Chromosome 6 (position 6234048)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 6160064
GRCz11 6 6317233
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAGCAGATATTCAAAACCAAAGTATAACGCATGAGAAYGGATATCTGGAG[C/T]AAGATAAGAGTTCCCTGGAGAAGGAGAACCGGAGATTGCGGCARCAAGTG
Long Flanking Sequence:
ACATTTGTAAATTCCTTTAACTTGGGTGATCCTAAATTGTGTTTATTCTTTTAGAGTTGAAGTCGTTGAGCCAGGAAGTAAATGAAAAGACCTGTAGCAGGTTGCTGAAGCTGGAGAAAGAGAACCAGAGGTTGCTGAAAGCCCTTGAAGAACTTCAGGGAACATGTGAACCACTGAATGAGTTTGTTTCTCAATCTAATCACATTAAGGGAAAGGGAAGAACGGATATAGTGGACTGTGAGACTCACAAATCTACTCCAGCATTTGCCAACATGCAAAATGGCCAAATGACCACACCAACCCAGCGGACCAGCAATCAGTTTCTTGACACAGAACATCAGCATGCATCCCTGGAAAATGCTAACGGCAATCTTCCTTGTCTTGAAGTGGAGCTTCACGAATTAGAGGCAGTGAACCAAAGTCAATTCAGTTATAACCATAATAATGCACAAGCAGATATTCAAAACCAAAGTATAACGCATGAGAACGGATATCTGGAG[C/T]AAGATAAGAGTTCCCTGGAGAAGGAGAACCGGAGATTGCGGCAGCAAGTGAAGATCCAGGAGGCCTCATTAGATAGTAGCAGTTTGAAAATCGCAGTGGTGGAGAAGGAGAACCGTACCTTGGTTAAAAAGATATCCAACATTAGTGAGGCCTGTGCGAAGTACAAAGAGCTGGAGAAGGACAACCAAGAGCTGATTCAACAGGCTGGAGTGGACAAGAGGATGCTGATCACATTGAGAGAGGTTACTATTGCAATGAAAGCTTTTTTATTGTATTACACATTTTCTCAATGTTCATCTTACAGTTTTAAGTTTTGCTAGGAGCTTCTGGATCAGAGGCTGAAACTTCAACAGAAAGAATGTGATGTTGAGAAGTACATCTATGAACTAGAGAGGATGAGGTTGAACCAGGAGACACGAATGGGAGATCACGAGGCTGTAGATCAAGGGTATATAGATCTACTAGATATTCTCTTATAAATTCAGTAATCGTATTTAAAT
Associated Phenotype:
Not determined