ZMP
ENSDARG00000044212
Ensembl ID:
Human Orthologues:
CCDC88A, CCDC88C
Human Descriptions:
coiled-coil domain containing 88A [Source:HGNC Symbol;Acc:25523]
coiled-coil domain containing 88C [Source:HGNC Symbol;Acc:19967]
coiled-coil domain containing 88C [Source:HGNC Symbol;Acc:19967]
Mouse Orthologues:
Ccdc88a, Ccdc88c
Mouse Descriptions:
coiled coil domain containing 88A Gene [Source:MGI Symbol;Acc:MGI:1925177]
coiled-coil domain containing 88C Gene [Source:MGI Symbol;Acc:MGI:1915589]
coiled-coil domain containing 88C Gene [Source:MGI Symbol;Acc:MGI:1915589]
Alleles
There are 15 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa6565 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa29244 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa29245 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa36886 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa43324 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa43325 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa23573 | Nonsense | Available for shipment | Available now |
sa23574 | Nonsense | Available for shipment | Available now |
sa23575 | Nonsense | Available for shipment | Available now |
sa36887 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa43326 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa36888 | Nonsense | Available for shipment | Available now |
sa32251 | Nonsense | Available for shipment | Available now |
sa43327 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa6565
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000077550 | Essential Splice Site | 86 | 2343 | 3 | 41 |
Genomic Location (Zv9):
Chromosome 19 (position 39081478)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 37945461 |
GRCz11 | 19 | 37532581 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TAGAAAGAAAAGACATAGAGAAGATGAAAAAGAACATCWCAAGAGAAATG[C/G]ATGARATCAAACATCAAGARGAACAAATKAAACAAAAACAAGATGAACTT
Long Flanking Sequence:
AAAAGGAATTACTTGAAAATGACAGTAATCTGCTGAAGAAAGATATGGAAGATCTGAAACAAAAGCTAATGAGTATAGAAAGAGATTCAGAGAGTCTAAAACTTGACAGAGAAGCATTTGGAAATGAAAAGGAAGTGTTGAAACAGATGAAAACTGACCTGCAAATACAAGCAGATGAGATTGAGAAGATCAAACTAGAGACACAACATGATAGACAGAGAGTGGAGGAAAAGACTGCTCAAATCCAGAAAGATAGAGACGAAATCAACAATCTCATTGTAGAGACAAACAGAAAAGACATGGTCTTGAATGAAATGGACAGAGATATTGAAGAGAAAATCAAATCTATTCAATCTGATAAAGACATGCTTGAGAAGGAAAGACATAATCTGGAGAAAACAAGAAGTGAACTTGCAAGAGCCAAAGAAAATCTTGAAACACAAAGAGAAATAGAAAGAAAAGACATAGAGAAGATGAAAAAGAACATCTCAAGAGAAATG[C/G]ATGAGATCAAACATCAAGAGGAACAAATGAAACAAAAACAAGATGAACTTGATCAACTGAAAACTGAAATTCAGAATCTGCAACAAGAACTAGAAAAAGAAAAAGAGATTATCATGAAGGCCAGAAGTCAGCTTGATCTGAGACAATCTGAACTAGATAAACAACAGACAAACATGAATGACATTATGGAAACAATGAAGAATGAGAGAAAACAATTAGATAAGGATAAAGAAGAGACGGAAGAACAGAAACAGGAAATGGAGAAAGAAAAACATGACTTCGACCAAAGCAGAAAGAGTCTGGATGAAGACCTGAAGATGATGAAGCTGCAGAAACAAGTGATTGAAGAAGAGAAGAGCAAGTTAAAACAGATGAAGATTGAGCTGGAAAGAGAAGCTGATGAAATCAGAAAGGTAAAAGAAGAGACTCAAAATGAAAGACAGATTTTTGAAAAGATGACTGAAGCACTTAAAAAAGAGAGAGAAGACCTTTCTGAAGAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa29244
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000077550 | Essential Splice Site | 128 | 2343 | 3 | 41 |
Genomic Location (Zv9):
Chromosome 19 (position 39081606)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 37945589 |
GRCz11 | 19 | 37532709 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGCAACAAGAACTAGAAAAAGAAAAAGAGATTATCATGAAGGCCAGAAG[T/G]CAGCTTGATCTGAGACAATCTGAACTAGATAAACAACAGACAAACATGAA
Long Flanking Sequence:
AAGGAAGTGTTGAAACAGATGAAAACTGACCTGCAAATACAAGCAGATGAGATTGAGAAGATCAAACTAGAGACACAACATGATAGACAGAGAGTGGAGGAAAAGACTGCTCAAATCCAGAAAGATAGAGACGAAATCAACAATCTCATTGTAGAGACAAACAGAAAAGACATGGTCTTGAATGAAATGGACAGAGATATTGAAGAGAAAATCAAATCTATTCAATCTGATAAAGACATGCTTGAGAAGGAAAGACATAATCTGGAGAAAACAAGAAGTGAACTTGCAAGAGCCAAAGAAAATCTTGAAACACAAAGAGAAATAGAAAGAAAAGACATAGAGAAGATGAAAAAGAACATCTCAAGAGAAATGCATGAGATCAAACATCAAGAGGAACAAATGAAACAAAAACAAGATGAACTTGATCAACTGAAAACTGAAATTCAGAATCTGCAACAAGAACTAGAAAAAGAAAAAGAGATTATCATGAAGGCCAGAAG[T/G]CAGCTTGATCTGAGACAATCTGAACTAGATAAACAACAGACAAACATGAATGACATTATGGAAACAATGAAGAATGAGAGAAAACAATTAGATAAGGATAAAGAAGAGACGGAAGAACAGAAACAGGAAATGGAGAAAGAAAAACATGACTTCGACCAAAGCAGAAAGAGTCTGGATGAAGACCTGAAGATGATGAAGCTGCAGAAACAAGTGATTGAAGAAGAGAAGAGCAAGTTAAAACAGATGAAGATTGAGCTGGAAAGAGAAGCTGATGAAATCAGAAAGGTAAAAGAAGAGACTCAAAATGAAAGACAGATTTTTGAAAAGATGACTGAAGCACTTAAAAAAGAGAGAGAAGACCTTTCTGAAGATGCAAAGAGAAAGAATCAAGTCTTGGATGAAATGAAAGTTGCAAATGAGTCTACACTGGCAGATATATTAAGAGAAAGGAGCAATCTTCAGGAAATGAGAGAGAACATCTCTAAACAAACAGAAGATGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa29245
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000077550 | Essential Splice Site | 128 | 2343 | 4 | 41 |
Genomic Location (Zv9):
Chromosome 19 (position 39082828)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 37946811 |
GRCz11 | 19 | 37533931 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGAAGAAGATCCTGGATAAAATGAAAGTTGCAAACGAGTCTTTAATGGCA[G/A]ATCTGCAAAAAGAAAAGAGCAATCTTGAGGAAATGAGAGAAAACATCTCT
Long Flanking Sequence:
AGGAAGAATTGAAACAGATGAAAACTGAGCTGGAAAGAGAAGCAGATGAGATTGAGAAGATCAAACTAGAGACACAACATGAAAGACAGAGAGTGGAGGAAATGACTGCTGATTTTATGGAAACAATGAACAATGAGAGAAAACAACTAAATAAAAATAAAGAAGAGATGCAAGAACAGAAACAGGAAATGGAGAAAGAAAGACATGACATGGACCAAAGCAGAAAAAGTCTGGATAAAAACCTAAAGATGATGAAGTTGCAGAAACAAGTGATTGAAGAAGAGAAGAACAAGTTAGAACAGATGAAGATTGAGCTGGAAAAAGAAGCTGATGAAATCAGAAAGATAAAAGAAGAGACTCAAAATGAAAGACAGAGATTGGAGAAGATGACTGAAGAACTTAAAAAAGAGAAAGAAAGTTTTACTCATCTTGCTGAAGATACGAAGACAGAGAAGAAGATCCTGGATAAAATGAAAGTTGCAAACGAGTCTTTAATGGCA[G/A]ATCTGCAAAAAGAAAAGAGCAATCTTGAGGAAATGAGAGAAAACATCTCTAAACAAACAGAAGATAGTGAAAAAGAGAAAGAGAAAATAAGACTCAGAGAAGATGAACTTGAGCAACTTCAAGCAGAGATTCATAAACAACAAGGTGAAATAAAAATGGAAAAGAGCAACAATGAAAGTGAGAGAGCAGCAATAATCAAGGATGTTAAAGACCTGCAACATAAAATGTTCAGTTTAGACAGAGATTTAGAGAGTCTAAAACTTGACAGAGAAGCATTTGAGAATGAGAGAGAAGTGTTGAAACAGATAAAAACTGACCTGAAAAGAAAAGCAGAGGAGATTGAGAAGATCAAACTAGAGACACAACATGATAGACAGAGAGTGGAGGAAATGACTGCTCAAATCCAGAAAGAAAGAGACAAAATCAACAATCTCATTGAAGAGACAAACAGAAAAGACATGGTCTTGAATGAAATAAAAACAGAAATTAAAGAGAAAATC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa36886
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000077550 | Essential Splice Site | 374 | 2343 | 7 | 41 |
Genomic Location (Zv9):
Chromosome 19 (position 39084042)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 37948025 |
GRCz11 | 19 | 37535145 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAAGATCTTGCTGAAGAAACAAAGAAAAATAATCAAGTCTTGGATGAAAT[G/A]AAAGTTGCAAACGAGTCTACACTGGCAGATATATTAAGAGAAAAGAGCAA
Long Flanking Sequence:
CAAAAACAAGATGAACTTGATCAACTGAAAACTGAAATTCAGAATCTGCAACAAGAACTAGAAAAAGAAAAAGAGATTATCATGAAGGACCGAAGTCAGCTTGATCTGAGACAATCTGAACTAGACAAACAACAGACAAATGTGAATGACATTATGGAAACAATGAAGAATGAGAGAAAACAATTAGATAAAGATAAAGAAGAGACAGAAGAACAGAAACAGGAAATGGAGAAAGAAAAACATGACTTTGACCAAAGCAGAAAGAGTCTGGATGAAGACCTAAAGATGATGAAGCTGCAGAAACAAGTGCTTGAAGACGAGAAGAGCAAGTTAGAACAGATGAAGATTGAGCTGGAAAGAGAAGCTGTTGAAATCAGAAAGATAAAAGAAGAGATTCAAAATGAAAGACAGAATTTGGAAAAGATGACTGAAGCACTTAAAGAAGAGAGAGAAGATCTTGCTGAAGAAACAAAGAAAAATAATCAAGTCTTGGATGAAAT[G/A]AAAGTTGCAAACGAGTCTACACTGGCAGATATATTAAGAGAAAAGAGCAATCTTGAGGAAATGAGAGAGAACATCTCTAAACAAACAGAAGATGTTGAAAACAAGAAAGAGAACTTGAGACTCAGAGAAGATGAGCTCAGGCAACTTCAAGCAGAGATTCATAAACAACAAAGAGAAATAGAAAAGGAAAAGATCAACATTGAAAGTGAGAGAGCTGCAATAATCAAGGATGTTGAAGATCTGCAACATAAAATAATTTGTTTAGACAGAGATGCAGAGAGTCTAAAACTTGACAGAGAAGCATTTGAGAATGAGAAAGAAGTGTTGAAACAGATGAAAACTGAGCTGGAAAGAGAAGCAGATGAGATTGAGAAGATCAAACTAGAGACACAACATGATAGACAGAGAGTGGAGGAAATGGCTGCTCAAATCCAGAAAGATAGAGACGAAATCAACAATCTCATTGAGGAGACAAACAGAAAAGACATGGTCTTGAATGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa43324
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000077550 | Essential Splice Site | 516 | 2343 | 11 | 41 |
Genomic Location (Zv9):
Chromosome 19 (position 39086689)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 37950672 |
GRCz11 | 19 | 37537792 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCAGGAGATTCTGGATAAAGTAAAAGTTGCAAACGAGTCTTTAATGGCA[G/A]ATCTGCAAAAAGAAAAGAGCAATCTTGAGGAAATGAGAGAAAACATCTCT
Long Flanking Sequence:
TTCAGAATCTGCAACAAGAACTAGAAAAAGAAAAAGAGATTATCATGAAGGACAGAAGTCAGTTTGATCTGAGACAATCTGAGCTAGACAAACAACAGACAAACATGAATGACATTATGGAAACAATGAAGAATGAGAGAAAACAATTAGATAAAGATAAAGAAGAGATGGAAGAACAGAAACAGGAAATGGAAAAAGAAAAACATGACTTTGACCAAAGCAGAAAGAGTCTGGATAAAGACCTGAAGATGATGAAGCTGCAGAAACAAGTGTTTGAAGAAGAAAAGAACAAGTTAGAACAGATGAAGATTGAGCTGGAAAGAGAAGCTGATGAAATCAGAAAGATAAAAGAAGAGACTCAAAATGAAAGACAGAGTTTGGAGAAGATGACTGAAGAACTTAAAAAAGAGAAAGAAAGTTTTACTCATCTTGCTGAAGATACAAAGAAAGAGCAGGAGATTCTGGATAAAGTAAAAGTTGCAAACGAGTCTTTAATGGCA[G/A]ATCTGCAAAAAGAAAAGAGCAATCTTGAGGAAATGAGAGAAAACATCTCTAAACAAACAGAAGATGTTGAAAACAAGAAAGAGAACTTGAGACTCAGAGAAGATGAACTCTGGCAACTTCAAGCAGAGATTTATAAACAACAAAGAGAAATTGAAAAGGAAAAGATCAACATTGAAAGTGAGAGAGCAGCAATAATCAAGAATGTTGAAGATCTGCAACATAAAATAATTAGTTTAGACAGAGATTCAGAGAGTCTAAAACTTGACAGAGAAGCATTTGAGAATGAGAGAGAAGTGTTGAAACAGATGAAAACTGAGCTGGAAAGAGAAGCAGATGAGATTGAGAAGATCAAACTAGAGACACAACATGATAGACAGAGAGTGGAGGAAATGACTGCTCAAATCCAGAAAGACAGAGACAAAATCAACAATCTCATTGAGGAGACAAACAGAAAAGACATGGTCTTGAATGAAAAGAACAGAGATATTGAAAAGAAAATC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa43325
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000077550 | Nonsense | 1193 | 2343 | 22 | 41 |
Genomic Location (Zv9):
Chromosome 19 (position 39091927)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 37955910 |
GRCz11 | 19 | 37543030 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AATATGCAGAGAGAAAGTCTGAAAATTACAAGATACAAACATACCTAGAT[G/T]AAGCAAATGCTGAGGTACAAAAACTAAATAAAGAGCTGGAAAGATATGAT
Long Flanking Sequence:
TGGATCTGCAGAAAACCCAAGATGTCAGAAGACAATCGGATGAGAGTGACATTGCAAGAGCAAACCTGCAGAGAGAAAGAGAGAGTCTTGATCAGTTAAGTGTGGAGATCCTTAAGCAAAAACAAGATCTAGAGAGAGAAAGGGATGAATTGTTGGAGCAGTGGCGGCTGGTGGAGACACAAAAGATGGACAATGAAAATGTGAAACAACTAAAGACAGAGCTATTGGATGAGAAGGAATCGACTGAGAAAATCAGAAAGCAGCTGGAACAAGACAAAGCTTATATGGAAGAAAATAAATTAAATCTCCATAAAGAATTAGAGGAATTAAATCTCCAAAAACAGGGCATTCAAGATGAAAGAGCTCAACTAGAGCGAATGAAAGGTGAGCTCCAAATGAAAGCAGATGATATAGAAAGGAAAATGCAAGAAATACTTTATGAAAAACAGAAATATGCAGAGAGAAAGTCTGAAAATTACAAGATACAAACATACCTAGAT[G/T]AAGCAAATGCTGAGGTACAAAAACTAAATAAAGAGCTGGAAAGATATGATGAAAATTTAGAAAAATGTAAGCTTGAACTAGACAAAGCAAGAGCCGAAACAGAGCGAGTAAAACAAGGTGCTAAAATACCGGAGACACAACAGATAGAGCAAAGTTTGCAAAAAGAAAGAGACTACATTGAGGATATCAGAAGGAACCTGTTTAAAAAGGAAGAGGCCATTGAAAAGGACAAGGCCGAAATAAGGTTGAGGCACCAAGAACTAGATCTCATCCAAGCAAAAGTTGTCAAACAGAAAGAAGAGATGGTTAAACAGAAGATTGAATCAGAGCGAGAAATCCAACAAGAGAAAAAGAAACTACAGAGGTCAGAAGAGGAATTAGAAGACAAGATGCAGAAGATTAAACGTGAAATGATTGAACTTAAGCTTCTTCAGGATGAAACTGATGGCAAAAGAAAAGATGTTGACAACAAGATGAGACAGGTAGCAAGAAAAAGAGAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23573
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000077550 | Nonsense | 1375 | 2343 | 25 | 41 |
Genomic Location (Zv9):
Chromosome 19 (position 39093145)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 37957128 |
GRCz11 | 19 | 37544248 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAAAAATAATTGAGAATCTTGAAAGCCTTCGAGAAGAGGCAACTAGAGAA[A/T]GAGCGACAGAAACAGCTCAAGCAACAAGGAGAGATTCTGAGGAATTAATG
Long Flanking Sequence:
AAAAGGCTAGCAAAATGGCTTGGAGTACAAAACATGAACCAGAAATGAGAATGCAGAGAGAGGTTAGTGTTGAAGAGGAGTCAGTGGAAAGGCAAGATATGAGTGCTAACATGCAGAGAATGATCCTGGAAATTGAGCATGCCAGAGAAACTCTTAGAGGGATGAAGGATGAAGTCCAGGCAGCCAGAAAAGAAAGGTCTGAACTGGAGAACATGAAGCTTGAATTCTTAACCATGAAAAAGAACATGGAAAAAACTTATGAGCAGCAGAATGATGAGATACAAAAAGAGAAACAGCAAATAGAGAGTAGCAAAATGTTGCTAAGTAGAGAGAGAAATGATCTTGAGCAGAACAGGGCTGATTTGGAGAGACAAAAACAAATAATGGCATTGGACAAACAAAAACTCCTTGCTGAAAATGAATTACTGGAGAGAGAAAAGGCTGACGTAATAAAAATAATTGAGAATCTTGAAAGCCTTCGAGAAGAGGCAACTAGAGAA[A/T]GAGCGACAGAAACAGCTCAAGCAACAAGGAGAGATTCTGAGGAATTAATGCAGAAAATGGAAGCACTGAGCATGGAAGACTTCCAAGAAGCAAGTAAGAATCAGATGGTCGAACTAAAGAGACAGATAGACAAACTGATAGAGTTGAAGGCTGATCTGCTACAACAGCAGACAGAACTTAAGAAAACCAAAGCAGATTTAAAACAACAGATGGATGATCTTGAAAAAACAAGGTCTGAAATATTAAAACATGAAAAGGACACAGACAGTAAAACAAGAGAATTGGAGCTGATAGAAATCCAAAGACAGAAAGACGATCTAGAAACAAGAATTCAGAAATTGACCCTTGAGAAGAGAGATCTGGAGGTCCTGAGGTCTGAGATTGTCCTAGAAAAGAAAGACCTGGATCAGAAGATGAAGCAAGTGATAAGAAAGAGGGACGAGATGGAGAAAATCAGATCTGATATAGCAAATGCCACAGAGGAGATCAACAGAGAAAGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23574
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000077550 | Nonsense | 1858 | 2343 | 33 | 41 |
Genomic Location (Zv9):
Chromosome 19 (position 39103453)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 37967436 |
GRCz11 | 19 | 37554556 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGAGAACAGCAAAGAAATAGTTCAGAAATTAATGGTTGAAGTGGAGGAA[C/T]AGAGAAAAGACATTCGGCTCCAGAAAGAAGAACTTGACATTGAAAGACAG
Long Flanking Sequence:
ATCATAAATGGACACAGTTACAACAGAGGATTGATGAATTTGATGCTCAAGTTAGCAAACAAAAGGAAGAAGATTTAACGAAACAGAAGAAGATGGAAGAAGAAAGAAAAAGTCTAGAAGAAACCAAAATTAAAATAATCGAGATGAAGACTAAAACTGAGCCGGAAAAGATCAAGAAAGAAAAAGAGAAAGAAGAAGAAGAAGTAATGAGAGCAAAAGTAGAGATGAAGAAAGAAGAACTTGATCAGATTAAGAGCCAACTTGAAAGAGTGAGATCTGAAATAGATCATGAGCAGAAGAAACTAAATGATGACAAGAAGATGATTGAGCAGGAAAAAGAAGACCTGGAGAAGATGAAGTCTGAAATAATGAAACAAAGACAGCAGATGGAAGAAGAGAGATCAGAACTTGACAACAAGATAAAGCAGACAGATCTAGAAAGACATGACATTGAGAACAGCAAAGAAATAGTTCAGAAATTAATGGTTGAAGTGGAGGAA[C/T]AGAGAAAAGACATTCGGCTCCAGAAAGAAGAACTTGACATTGAAAGACAGAAAATTGCAGATGAACAAGGTCTTGTGGTTCAAAACAAGGCTAAACTGCAAAATGAAAATGAACGAATCAAAGAAATGGATGAGGAAATAAAGAAAGAGAAAGAAACACTGAAGGAAATGGAAGCTCATCTACGGAAGGAGAAAGAAGAAATGAGGAGCGTCATTGAAGAAACACAAAGACGACAAAAAGAGGATCTGGAGAAGATGAGCACAGACGTAAATAAACAAAACCAAGACCTGATGAACCAAAGAGACCTTCTAAAACAAGAACGAGAAGAAATAAATCATAAATGGACACAGTTACAACAGAGGATTGATGAATTTGATGCTCAAGTTAGCAAACAAAAGGAAGAAGATTTAACGAAACAGAAGAAGATGGAAGAAGAAAGAAAAAGTCTAGAAGAAACCAAAATTAAAATAATCGAGATGAAGACTAAAACTGAGCCGGAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23575
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000077550 | Nonsense | 2066 | 2343 | 35 | 41 |
Genomic Location (Zv9):
Chromosome 19 (position 39104632)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 37968615 |
GRCz11 | 19 | 37555735 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAGAGACCTTTTAGAACAAGAAAGAGAAGAAATAAATCATAAATGGAAA[C/T]AGTTACAACAGAGGATTGATGAATTTGATGCTCAAGTCAGCAAACAAAAG
Long Flanking Sequence:
TGGAGAAGATGAAGTCTGAAATAATGAAACAAAGACAGCAGATGGAAGAAGAGAGATCAGAGCTTGAAAACAAGATAAGGCAGACATATATAGAAAAATGTGACATTGAGAACAGCAAAGAAATAGTTCAGAAGTTAATGGTTGAAGTGGAAGAACAGAAGCATGAGATTCAATTCCAGAAAGAAGAACTTGACATTGAAAGACAAAAAATTGCAGATGAACAAGATCTTCTCATTCAAAATAAGAGTGAACTGCAAAATGAAAATGAGCGAATCAAGAACATAAATGAGGTAATAAAGAAAGAGAGAGAAACACTGAAGGAAATGGAAGCTTATCTTGAAAAAGAGAAAGAAGAAATGAAGAGCATCACTGAAGAAACACGACGACAAAAAGAAGATCTGGAAAAGATGAGCACACACATAAATGAACAAAAACAAGATCTGAGGAGCCAAAGAGACCTTTTAGAACAAGAAAGAGAAGAAATAAATCATAAATGGAAA[C/T]AGTTACAACAGAGGATTGATGAATTTGATGCTCAAGTCAGCAAACAAAAGGAAGAGGATTTACCAAAAGAGAAGGAGATGAAAGAAGATAGAAAAAGTCTAGAAGAGACCAAAGCCAACATCCTCGAGATGAAGACTAAAGCTGAGCCAGAGGAGATCAAGAAAGAAAAAGAAAAAGAAGAAGAAGAACAAGAAATGAGAGTAAAAGTAGAGATGGAGAGAAAAGAAATTGAGCAGATAAAGAGCCAACTCGAAAGAGTGAGATCTGAAATGGATCATGAGCAGAAGAAACTAAATGATGACAAGAAGATGATTGAGCAGGAAAAAGAAGACCTGGAGAAGATGAAGTCTGAAATAATGAAACAAAGACAGCAGATGGAAGAAGAGAGATCAGAACTTGACAAGAAGATAAAGCAGACAGATCTAGAAAAACATGACATTGAGAACAGCAAAGAAATAGTTGAAAAATTAATGGTTGAAGTGGAAAAACAGAAGCATGAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa36887
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000077550 | Essential Splice Site | 2085 | 2343 | 37 | 41 |
Genomic Location (Zv9):
Chromosome 19 (position 39105143)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 37969126 |
GRCz11 | 19 | 37556246 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGAAAAATTAATGGTTGAAGTGGAAAAACAGAAGCATGAGATTCAATTCC[A/T]GAAAGAAGAACTTGACATTGAAAGACAAAAAATTGCAGATGAACAAGATC
Long Flanking Sequence:
GAGGATTGATGAATTTGATGCTCAAGTCAGCAAACAAAAGGAAGAGGATTTACCAAAAGAGAAGGAGATGAAAGAAGATAGAAAAAGTCTAGAAGAGACCAAAGCCAACATCCTCGAGATGAAGACTAAAGCTGAGCCAGAGGAGATCAAGAAAGAAAAAGAAAAAGAAGAAGAAGAACAAGAAATGAGAGTAAAAGTAGAGATGGAGAGAAAAGAAATTGAGCAGATAAAGAGCCAACTCGAAAGAGTGAGATCTGAAATGGATCATGAGCAGAAGAAACTAAATGATGACAAGAAGATGATTGAGCAGGAAAAAGAAGACCTGGAGAAGATGAAGTCTGAAATAATGAAACAAAGACAGCAGATGGAAGAAGAGAGATCAGAACTTGACAAGAAGATAAAGCAGACAGATCTAGAAAAACATGACATTGAGAACAGCAAAGAAATAGTTGAAAAATTAATGGTTGAAGTGGAAAAACAGAAGCATGAGATTCAATTCC[A/T]GAAAGAAGAACTTGACATTGAAAGACAAAAAATTGCAGATGAACAAGATCTTCTCATTCAAAATAAGATTGAACAGCAAAATGAAAATGAACGAATCAAAGAAATGGATGAGGAAATAAAGAAAGAGAGAGAAACACTGAAGGAAATGGAAGTTAATCTACAAAAGGAGAAAGAAGAAATAGAGAGTGTCATTGAAGAAACACAAAGACGAAAAGAAGATCTGGAGAAGATGAGCACAGACATAAATGAACAAAAGCAAGACCTGATGAACCAAAGAGACCTTCTAAAACAAGAACGAGAAGAAATGAATCATAAATTGACACAGTTACAACAGAGGATTGATGAATTTGAGACTACAAGTAACATTCTTGTGACAACCAAAATGGAAGAAAAAACAGAAATGGATGAAAAACTTCAACAGGCTATTAAGGAATATGAAAGCATCATAGAAGAAACAAACAGGAAAAGAACTGAGCTAGAAGAAATTGAGGTTGATCAGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa43326
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000077550 | Nonsense | 2115 | 2343 | 37 | 41 |
Genomic Location (Zv9):
Chromosome 19 (position 39105235)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 37969218 |
GRCz11 | 19 | 37556338 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACAAGATCTTCTCATTCAAAATAAGATTGAACAGCAAAATGAAAATGAA[C/T]GAATCAAAGAAATGGATGAGGAAATAAAGAAAGAGAGAGAAACACTGAAG
Long Flanking Sequence:
AAGAGACCAAAGCCAACATCCTCGAGATGAAGACTAAAGCTGAGCCAGAGGAGATCAAGAAAGAAAAAGAAAAAGAAGAAGAAGAACAAGAAATGAGAGTAAAAGTAGAGATGGAGAGAAAAGAAATTGAGCAGATAAAGAGCCAACTCGAAAGAGTGAGATCTGAAATGGATCATGAGCAGAAGAAACTAAATGATGACAAGAAGATGATTGAGCAGGAAAAAGAAGACCTGGAGAAGATGAAGTCTGAAATAATGAAACAAAGACAGCAGATGGAAGAAGAGAGATCAGAACTTGACAAGAAGATAAAGCAGACAGATCTAGAAAAACATGACATTGAGAACAGCAAAGAAATAGTTGAAAAATTAATGGTTGAAGTGGAAAAACAGAAGCATGAGATTCAATTCCAGAAAGAAGAACTTGACATTGAAAGACAAAAAATTGCAGATGAACAAGATCTTCTCATTCAAAATAAGATTGAACAGCAAAATGAAAATGAA[C/T]GAATCAAAGAAATGGATGAGGAAATAAAGAAAGAGAGAGAAACACTGAAGGAAATGGAAGTTAATCTACAAAAGGAGAAAGAAGAAATAGAGAGTGTCATTGAAGAAACACAAAGACGAAAAGAAGATCTGGAGAAGATGAGCACAGACATAAATGAACAAAAGCAAGACCTGATGAACCAAAGAGACCTTCTAAAACAAGAACGAGAAGAAATGAATCATAAATTGACACAGTTACAACAGAGGATTGATGAATTTGAGACTACAAGTAACATTCTTGTGACAACCAAAATGGAAGAAAAAACAGAAATGGATGAAAAACTTCAACAGGCTATTAAGGAATATGAAAGCATCATAGAAGAAACAAACAGGAAAAGAACTGAGCTAGAAGAAATTGAGGTTGATCAGTCACAACAAAATAAAAACGTTGAGACCATGAAAGATCTTTTGGAGAAAGAGAGAAAAGACACTGAAAAGGAAAGAGAAGAGTTACAGAAACAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa36888
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000077550 | Nonsense | 2195 | 2343 | 37 | 41 |
Genomic Location (Zv9):
Chromosome 19 (position 39105475)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 37969458 |
GRCz11 | 19 | 37556578 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCTAAAACAAGAACGAGAAGAAATGAATCATAAATTGACACAGTTACAA[C/T]AGAGGATTGATGAATTTGAGACTACAAGTAACATTCTTGTGACAACCAAA
Long Flanking Sequence:
TGAAGTCTGAAATAATGAAACAAAGACAGCAGATGGAAGAAGAGAGATCAGAACTTGACAAGAAGATAAAGCAGACAGATCTAGAAAAACATGACATTGAGAACAGCAAAGAAATAGTTGAAAAATTAATGGTTGAAGTGGAAAAACAGAAGCATGAGATTCAATTCCAGAAAGAAGAACTTGACATTGAAAGACAAAAAATTGCAGATGAACAAGATCTTCTCATTCAAAATAAGATTGAACAGCAAAATGAAAATGAACGAATCAAAGAAATGGATGAGGAAATAAAGAAAGAGAGAGAAACACTGAAGGAAATGGAAGTTAATCTACAAAAGGAGAAAGAAGAAATAGAGAGTGTCATTGAAGAAACACAAAGACGAAAAGAAGATCTGGAGAAGATGAGCACAGACATAAATGAACAAAAGCAAGACCTGATGAACCAAAGAGACCTTCTAAAACAAGAACGAGAAGAAATGAATCATAAATTGACACAGTTACAA[C/T]AGAGGATTGATGAATTTGAGACTACAAGTAACATTCTTGTGACAACCAAAATGGAAGAAAAAACAGAAATGGATGAAAAACTTCAACAGGCTATTAAGGAATATGAAAGCATCATAGAAGAAACAAACAGGAAAAGAACTGAGCTAGAAGAAATTGAGGTTGATCAGTCACAACAAAATAAAAACGTTGAGACCATGAAAGATCTTTTGGAGAAAGAGAGAAAAGACACTGAAAAGGAAAGAGAAGAGTTACAGAAACAAGCTGATGATCTGGAGATGCAAATGATAGAGCACGGAGACAAAGAGGAGATGAGCAAAAGATCACTGGATGAAGAAAAGAAGCTTTTAGAGCAGAAGGCTAATGAAATCCTGAGACAGAGAGACGACTTAGAGAAAGAAAAAGAGGACATGATGAAGAAATGGAACGAGCTGGATGGTCTTCAGAAGGAAATACAAAACCAAAAGAATGAAATGGAAGAAATCAAATGTGAGTTAGAAACT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32251
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000077550 | Nonsense | 2235 | 2343 | 37 | 41 |
Genomic Location (Zv9):
Chromosome 19 (position 39105595)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 37969578 |
GRCz11 | 19 | 37556698 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGATGAAAAACTTCAACAGGCTATTAAGGAATATGAAAGCATCATAGAA[G/T]AAACAAACAGGAAAAGAACTGAGCTAGAAGAAATTGAGGTTGATCAGTCA
Long Flanking Sequence:
AAAAATTAATGGTTGAAGTGGAAAAACAGAAGCATGAGATTCAATTCCAGAAAGAAGAACTTGACATTGAAAGACAAAAAATTGCAGATGAACAAGATCTTCTCATTCAAAATAAGATTGAACAGCAAAATGAAAATGAACGAATCAAAGAAATGGATGAGGAAATAAAGAAAGAGAGAGAAACACTGAAGGAAATGGAAGTTAATCTACAAAAGGAGAAAGAAGAAATAGAGAGTGTCATTGAAGAAACACAAAGACGAAAAGAAGATCTGGAGAAGATGAGCACAGACATAAATGAACAAAAGCAAGACCTGATGAACCAAAGAGACCTTCTAAAACAAGAACGAGAAGAAATGAATCATAAATTGACACAGTTACAACAGAGGATTGATGAATTTGAGACTACAAGTAACATTCTTGTGACAACCAAAATGGAAGAAAAAACAGAAATGGATGAAAAACTTCAACAGGCTATTAAGGAATATGAAAGCATCATAGAA[G/T]AAACAAACAGGAAAAGAACTGAGCTAGAAGAAATTGAGGTTGATCAGTCACAACAAAATAAAAACGTTGAGACCATGAAAGATCTTTTGGAGAAAGAGAGAAAAGACACTGAAAAGGAAAGAGAAGAGTTACAGAAACAAGCTGATGATCTGGAGATGCAAATGATAGAGCACGGAGACAAAGAGGAGATGAGCAAAAGATCACTGGATGAAGAAAAGAAGCTTTTAGAGCAGAAGGCTAATGAAATCCTGAGACAGAGAGACGACTTAGAGAAAGAAAAAGAGGACATGATGAAGAAATGGAACGAGCTGGATGGTCTTCAGAAGGAAATACAAAACCAAAAGAATGAAATGGAAGAAATCAAATGTGAGTTAGAAACTAAAAGGATTGAAATTATTAAAGAACAGAAACGACTAGAGGAGAGTTTAAACACTGTGAATGAGGAGAGACAATATCTGGAGATCGTGAGGGTTGACTATGAAAAACACCAGCAGCAAATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa43327
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000077550 | Essential Splice Site | 2258 | 2343 | 39 | 41 |
Genomic Location (Zv9):
Chromosome 19 (position 39106241)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 37970224 |
GRCz11 | 19 | 37557344 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGACATGATAGGACTCCTAAAGAAGGAAATGGAGCAAACAAAATTCAATC[T/A]GGATGCTCAAGAGGAGGAACTGAAACTGGAAAAGCAAAAAATACAAAATG
Long Flanking Sequence:
TGATCTGGAGATGCAAATGATAGAGCACGGAGACAAAGAGGAGATGAGCAAAAGATCACTGGATGAAGAAAAGAAGCTTTTAGAGCAGAAGGCTAATGAAATCCTGAGACAGAGAGACGACTTAGAGAAAGAAAAAGAGGACATGATGAAGAAATGGAACGAGCTGGATGGTCTTCAGAAGGAAATACAAAACCAAAAGAATGAAATGGAAGAAATCAAATGTGAGTTAGAAACTAAAAGGATTGAAATTATTAAAGAACAGAAACGACTAGAGGAGAGTTTAAACACTGTGAATGAGGAGAGACAATATCTGGAGATCGTGAGGGTTGACTATGAAAAACACCAGCAGCAAATAGAGGAGATGAGAGTGAAAACAAAGATGGAGAGAGATGAACTTGACCAACTGATGGCCAAGATGCTAATGGACCGAAAAGAAAATGAAAGGAGCAAGGACATGATAGGACTCCTAAAGAAGGAAATGGAGCAAACAAAATTCAATC[T/A]GGATGCTCAAGAGGAGGAACTGAAACTGGAAAAGCAAAAAATACAAAATGAGAAGAAAGATCTGGAGATGTTCAAGGCTGAAATCAAAAGAGAAGCCAGTGAAGTAAAGACATTGAAAGAGCAGCAATTAGAAAAAGACACAAAAGCATTTGAAGCATTAAAAGAGGAACATCTACCTGGACAGTTTGTTCAACAGAAGGGAGGAGAATTTGAACGCATACAAATAGATGAAGTCAAGAGAATTTTGTCTGAAATTCACAAGGAAAAGAAGGAACTTGAAAGAAACAAACAAATCCTTGAACATCAGAGAGAAGCGCTATTGGAGATTAAGAGTAAACAACCATCAGAGAGGCTGGATGTGATTTTGGTTAGTTCAGCTACACAAACATCTGATCTAGAAGACATACCTGACGTTTCAGCCTCTCAGGGAGAGACTGTTGAGAAACACACAGACATTATTAAGGAATATACAACTTCCATACCAAAAGAGGAATATGAGA
Associated Phenotype:
Not determined