ZMP
si:ch211-196o14.4
Ensembl ID:
ZFIN ID:
Description:
im:7160157 (im:7160157), non-coding RNA [Source:RefSeq DNA;Acc:NR_023323]
Human Orthologue:
PCNXL3
Human Description:
pecanex-like 3 (Drosophila) [Source:HGNC Symbol;Acc:18760]
Mouse Orthologue:
Pcnxl3
Mouse Description:
pecanex-like 3 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:1861733]
Alleles
There are 12 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa43666 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa31058 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa37334 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa43665 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa8938 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa37333 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa43664 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa11995 | Nonsense | Available for shipment | Available now |
sa10538 | Nonsense | Available for shipment | Available now |
sa37332 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa6677 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa45739 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa43666
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000031456 | Essential Splice Site | 51 | 2237 | 1 | 32 |
ENSDART00000133441 | Essential Splice Site | 51 | 2269 | 1 | 33 |
ENSDART00000031456 | Essential Splice Site | 51 | 2237 | 1 | 32 |
ENSDART00000133441 | Essential Splice Site | 51 | 2269 | 1 | 33 |
Genomic Location (Zv9):
Chromosome 21 (position 27013941)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 27582852 |
GRCz11 | 21 | 27619547 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTCTACCTCTGGATATTCCTCTTGGCCTTCCCCTTCCTTCTGTACATGG[T/C]GAGTTTTGCCTGAGGTAAAGAATATATAATGCAATGTATGTAATATTGAT
Long Flanking Sequence:
TTGAAAGTCGTAAAGAAACCAAACCAAGCAGTTTTGATGATTCCTCAGGATGACTCTTTTCATGTAGCCCTTGGGTCACATTTGTGCCAAAAACTCTTGATGAACTGCACTACAAACAAGGGACTGCTGGAGCAGCATGCAAACGAACAGTTGATACTGAAAAAACAAGGGCCTGAAGTTATTCGCTATTGTTTCGCACTCTGCTAATTTTTTTTCTTTGGACAGTCTTTTCATTATTTCCAGTGTGAGAAAGTCCATCCCTGAGGTTCTAGATGGAAGTAACGCACTAGAAAGTTTGACAGGGGAACTTGGAGAACTCTGGGTTGTCTCATCCAGAAGCGATAAGATGGGCTCTCAGGCTCTTCAGATATTGCGGCAGGGAGTGTGGGCCTCTCTGACCGGAGGATGGTACGTGGACCCTCATCAGAGTACCTTCTCAAACTGCTTTCATCTCTACCTCTGGATATTCCTCTTGGCCTTCCCCTTCCTTCTGTACATGG[T/C]GAGTTTTGCCTGAGGTAAAGAATATATAATGCAATGTATGTAATATTGATGTAATCCAGGAGCTTGAGCAGTAACCTTCCTTACTGGCTGCAGATTTACTCTCGAAAGTAGGGCTGAGTAGACATTTTTCTAAGTGTGTGTGTGTTTTTCTGTCATCTATGCTAAAAAGCCATTAAACGGTCTACTTTCCATGTTTTACATTCTACGTTCTGACCATTCATTGAATGTTTTTTAGAGACGTGGATTTTATTTTGATATACCAGGTCTGTGATTCCTGAATTCTATTTATTAAGTCACCATTTGTAAAGTGATATTCACAATTAGTTTTTTTACAAATCAGCGTTCATATTAAATATCCATTTACTCAAATTAGGATATAAGAATAAAGAATTTAATTCAATTCAAGGTACACGGGCGATGTTGGTGTGATCTGATTTTATTTACTAATGAGCAATTCCATACAAATGTCCAAAAAAAAAAAAAATCACCAAATTAGTAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa31058
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000031456 | Essential Splice Site | 51 | 2237 | 1 | 32 |
ENSDART00000133441 | Essential Splice Site | 51 | 2269 | 1 | 33 |
ENSDART00000031456 | Essential Splice Site | 51 | 2237 | 1 | 32 |
ENSDART00000133441 | Essential Splice Site | 51 | 2269 | 1 | 33 |
Genomic Location (Zv9):
Chromosome 21 (position 27013941)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 27582852 |
GRCz11 | 21 | 27619547 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTCTACCTCTGGATATTCCTCTTGGCCTTCCCCTTCCTTCTGTACATGG[T/C]GAGTTTTGCCTGAGGTAAAGAATATATAATGCAATGTATGTAATATTGAT
Long Flanking Sequence:
TTGAAAGTCGTAAAGAAACCAAACCAAGCAGTTTTGATGATTCCTCAGGATGACTCTTTTCATGTAGCCCTTGGGTCACATTTGTGCCAAAAACTCTTGATGAACTGCACTACAAACAAGGGACTGCTGGAGCAGCATGCAAACGAACAGTTGATACTGAAAAAACAAGGGCCTGAAGTTATTCGCTATTGTTTCGCACTCTGCTAATTTTTTTTCTTTGGACAGTCTTTTCATTATTTCCAGTGTGAGAAAGTCCATCCCTGAGGTTCTAGATGGAAGTAACGCACTAGAAAGTTTGACAGGGGAACTTGGAGAACTCTGGGTTGTCTCATCCAGAAGCGATAAGATGGGCTCTCAGGCTCTTCAGATATTGCGGCAGGGAGTGTGGGCCTCTCTGACCGGAGGATGGTACGTGGACCCTCATCAGAGTACCTTCTCAAACTGCTTTCATCTCTACCTCTGGATATTCCTCTTGGCCTTCCCCTTCCTTCTGTACATGG[T/C]GAGTTTTGCCTGAGGTAAAGAATATATAATGCAATGTATGTAATATTGATGTAATCCAGGAGCTTGAGCAGTAACCTTCCTTACTGGCTGCAGATTTACTCTCGAAAGTAGGGCTGAGTAGACATTTTTCTAAGTGTGTGTGTGTTTTTCTGTCATCTATGCTAAAAAGCCATTAAACGGTCTACTTTCCATGTTTTACATTCTACGTTCTGACCATTCATTGAATGTTTTTTAGAGACGTGGATTTTATTTTGATATACCAGGTCTGTGATTCCTGAATTCTATTTATTAAGTCACCATTTGTAAAGTGATATTCACAATTAGTTTTTTTACAAATCAGCGTTCATATTAAATATCCATTTACTCAAATTAGGATATAAGAATAAAGAATTTAATTCAATTCAAGGTACACGGGCGATGTTGGTGTGATCTGATTTTATTTACTAATGAGCAATTCCATACAAATGTCCAAAAAAAAAAAAAATCACCAAATTAGTAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa37334
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 |
---|---|---|---|---|---|
ENSDART00000031456 | Nonsense | 163 | 2237 | 4 | 32 |
ENSDART00000133441 | Nonsense | 163 | 2269 | 4 | 33 |
Genomic Location (Zv9):
Chromosome 21 (position 27011111)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 27580022 |
GRCz11 | 21 | 27616717 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TACTCTGACTCTTATCTTTTTCTTTTCCTCAGGAGTTTTTACCACAGCTT[G/T]AAGATCCCGGAGGTTCAAAGGGTACATTGTTGTGGTTATTGTTGCTTTTT
Long Flanking Sequence:
GATTGTGGAGAAGAGGCAGGCCTCGTTCACAACAGACCCAAACAGAGTGGAAGAAGGAGAGGAAGGCTCTGGCGCTCATGACGGAAGCCAGCACAGGTGCTGTGCATCTCCTTTACTACACTCTGCTGTCAAAATTTTGTGTTGTCATTTTTCTCTCTCAAGTCAGCCAGTGACAGACTTGAGACATTCAGATGTTCTTTGGGGATTTGTTGTTGTGAACAGCTGTTGTTGGTGTTGAGCAGTTACTCCACTGTAGTCAGTTTAAACTCATGTTGGCATGCCTGTGCCTACAGGGACAGTGGTGTCGGTGTGGAAATGACAGTGTTCCGAAAGGTAAACTCTACGCCTCCTGTACGTTGCAGTTCGCAGCATTCACTGTTTGGACTGAACCAGGTGTCGGTAAGGAGATTCTTAATGCCAAATATCACCTGTCTTTATTTCTTAGGGATTTACTCTGACTCTTATCTTTTTCTTTTCCTCAGGAGTTTTTACCACAGCTT[G/T]AAGATCCCGGAGGTTCAAAGGGTACATTGTTGTGGTTATTGTTGCTTTTTAATGACAGAACCAGATAGTTTCAGTTAAGATGAACTAGTATTCCTGTACTTTTCCTCATATAAATATGATTTTCAAAATTACAGATTTTAAGGAACTCATACAGGAGCAGGGCAGTAATAATGTGATTGTGACTTCTGCACATAGAGATGTCCTTCGACACAACTCTCGGGACAACACTAGTATGGACAATCCCTTCACTTCTGCACAGCTTTAGCAATTCATAGAATAGATATCCAATACAGAGTGCAACAGTGGCCAACCTCTTTTTCTTTTTTTTGTTATTGTTCTTTTTCAGAAAAATCTAATTTTAGGTCAACAAAAACGAAAATTCACATTTTATCTTTTTTCATAATACATACATCAATCTTTAATGAAACGATTGATTCATGCTTTTACATTTTTAACATTTCATGACCAGTTTGACATAAAAGGAAAATCTCAAACTGTTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa43665
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 |
---|---|---|---|---|---|
ENSDART00000031456 | Nonsense | 232 | 2237 | 5 | 32 |
ENSDART00000133441 | Nonsense | 264 | 2269 | 6 | 33 |
Genomic Location (Zv9):
Chromosome 21 (position 27009973)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 27578884 |
GRCz11 | 21 | 27615579 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGATGAGAAGGACCTAGTGGACAATGGGGGTACAGATCAACTATCTCAG[C/T]AGAGCCCTGGTGTGGAGGGTTTAGGAGGCTACTCTCCCCTGGGACCTTCG
Long Flanking Sequence:
CAGCTAAACCAGCCAGTTCTGAGTTTAGTCACAATACAACAAACTGTCATTTGAAACTAGATAAAGATGTTGTAAGAGATGTAAGACTGTACTTCTATGAGCTAAATTTTATGAATTGTGTCTGTTGAAATCAAATAAAAAACAACTAGTTTTTATTAAAGAGTATAAAAATGAATGTTTATTCCCAAGGCTAAAAGTGAATTTATAATATTGACTTGAATAAATTACTGATTTGAACTAGTGCCAATTGTTCTGCATATACATCTAGAAGTCTACTGTGCTCAGCAGTAATTGGATGCTTTTTTGTCATTGCAGTTCTTGCACCATCTTGCTTGGCTGGGGATTACAGAGGGCTAATTGGTGTAGGGGATGTAATGTCAGGAGGCTTCAGTAATCTACACCCAACAAACTGTCCTTCCATCCCACCATCCCCTTCCAGCCAGGAAGATGGAGATGAGAAGGACCTAGTGGACAATGGGGGTACAGATCAACTATCTCAG[C/T]AGAGCCCTGGTGTGGAGGGTTTAGGAGGCTACTCTCCCCTGGGACCTTCGGCAGAATCTGAGAGCCTGGGAGATGCTCCTCTCAGCCCACTCATCAAGAGTAGCTTGAGTGAGGAGCTGAGTGAGAACTTGTTGGGTTTAGGCCTAGATCCAGTCACTTTTGCCCCTGGTGCCGAGCACCCAGGCAGCCGCACTGGGGTGGCATTAGCTGCAGGCTCTACTGACAGCTGCTTTAGCGGAGGTGGAGCAACCACAGACAGAGAGACTCTGAGTACAGTTAGTAGCTACCGGAGCGAGAAAACAGACTCAACCCAGCTTGAGAGCCCCTCACTGGGCCAAACACATAAACCCGTGTCTAATGCTGATCCTGCAGCTTTGCCTCAGGGCAAAGGCCCCTATCAGCAGCCTGGAGATGTGCTGCAGGGTGGAAGTGACACAGATGACTTGTCAGACAGCGTGCTGCTACGCTCGCCCTCCAAAGAGCTTTCATCTGGGCAGGGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa8938
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000031456 | Nonsense | 239 | 2237 | 5 | 32 |
ENSDART00000133441 | Nonsense | 271 | 2269 | 6 | 33 |
Genomic Location (Zv9):
Chromosome 21 (position 27009951)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 27578862 |
GRCz11 | 21 | 27615557 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CAATRGGGGTRCAGATCARCTATCTCAGCAGAGCCCTGGTGTGGAGGGTT[T/A]AGGAGGCTACTCTCCCCTGGGACCTTCGGCAGAATCTGAGAGCCTGGGAG
Long Flanking Sequence:
GTTTAGTCACAATACAACAAACTGTCATTTGAAACTAGATAAAGATGTTGTAAGAGATGTAAGACTGTACTTCTATGAGCTAAATTTTATGAATTGTGTCTGTTGAAATCAAATAAAAAACAACTAGTTTTTATTAAAGAGTATAAAAATGAATGTTTATTCCCAAGGCTAAAAGTGAATTTATAATATTGACTTGAATAAATTACTGATTTGAACTAGTGCCAATTGTTCTGCATATACATCTAGAAGTCTACTGTGCTCAGCAGTAATTGGATGCTTTTTTGTCATTGCAGTTCTTGCACCATCTTGCTTGGCTGGGGATTACAGAGGGCTAATTGGTGTAGGGGATGTAATGTCAGGAGGCTTCAGTAATCTACACCCAACAAACTGTCCTTCCATCCCACCATCCCCTTCCAGCCAGGAAGATGGAGATGAGAAGGACCTAGTGGACAATGGGGGTACAGATCAACTATCTCAGCAGAGCCCTGGTGTGGAGGGTT[T/A]AGGAGGCTACTCTCCCCTGGGACCTTCGGCAGAATCTGAGAGCCTGGGAGATGCTCCTCTCAGCCCACTCATCAAGAGTAGCTTGAGTGAGGAGCTGAGTGAGAACTTGTTGGGTTTAGGCCTAGATCCAGTCACTTTTGCCCCTGGTGCCGAGCACCCAGGCAGCCGCACTGGGGTGGCATTAGCTGCAGGCTCTACTGACAGCTGCTTTAGCGGAGGTGGAGCAACCACAGACAGAGAGACTCTGAGTACAGTTAGTAGCTACCGGAGCGAGAAAACAGACTCAACCCAGCTTGAGAGCCCCTCACTGGGCCAAACACATAAACCCGTGTCTAATGCTGATCCTGCAGCTTTGCCTCAGGGCAAAGGCCCCTATCAGCAGCCTGGAGATGTGCTGCAGGGTGGAAGTGACACAGATGACTTGTCAGACAGCGTGCTGCTACGCTCGCCCTCCAAAGAGCTTTCATCTGGGCAGGGCCTGGACAGAACTCTAGTGGAGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa37333
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000031456 | Nonsense | 364 | 2237 | 5 | 32 |
ENSDART00000133441 | Nonsense | 396 | 2269 | 6 | 33 |
Genomic Location (Zv9):
Chromosome 21 (position 27009575)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 27578486 |
GRCz11 | 21 | 27615181 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCCGTGTCTAATGCTGATCCTGCAGCTTTGCCTCAGGGCAAAGGCCCCTA[T/A]CAGCAGCCTGGAGATGTGCTGCAGGGTGGAAGTGACACAGATGACTTGTC
Long Flanking Sequence:
CACCCAACAAACTGTCCTTCCATCCCACCATCCCCTTCCAGCCAGGAAGATGGAGATGAGAAGGACCTAGTGGACAATGGGGGTACAGATCAACTATCTCAGCAGAGCCCTGGTGTGGAGGGTTTAGGAGGCTACTCTCCCCTGGGACCTTCGGCAGAATCTGAGAGCCTGGGAGATGCTCCTCTCAGCCCACTCATCAAGAGTAGCTTGAGTGAGGAGCTGAGTGAGAACTTGTTGGGTTTAGGCCTAGATCCAGTCACTTTTGCCCCTGGTGCCGAGCACCCAGGCAGCCGCACTGGGGTGGCATTAGCTGCAGGCTCTACTGACAGCTGCTTTAGCGGAGGTGGAGCAACCACAGACAGAGAGACTCTGAGTACAGTTAGTAGCTACCGGAGCGAGAAAACAGACTCAACCCAGCTTGAGAGCCCCTCACTGGGCCAAACACATAAACCCGTGTCTAATGCTGATCCTGCAGCTTTGCCTCAGGGCAAAGGCCCCTA[T/A]CAGCAGCCTGGAGATGTGCTGCAGGGTGGAAGTGACACAGATGACTTGTCAGACAGCGTGCTGCTACGCTCGCCCTCCAAAGAGCTTTCATCTGGGCAGGGCCTGGACAGAACTCTAGTGGAGGGGGAGGATCTTCCCCCTTTGCCTACAGACATTACACAGCCCTCATTGCAGGACTCTTCACCATCTAGCAGTGGTCCCTCTGAGACCTGCGATCTTGACAGTGGTATCCCTATCCCCCCTCTTCCTCCTCCACGCCAGGCCAGCTCTGTACCATCAGGTTTGGCACTGGGCTTGGTCTGCTCAGAGCCTGCTCTGCCAGTCTCTGCCCCGTCCTACCTCCTAGCAGAGCCTCCCTCTCTACAAGCACAGCAGCAAGTGGTGCGACCGAAAGATCTGAAGCTGCTACGGGCCGGGGGCAGTGTAGGTCACCGGCCAGGTCGCAGGAAAGCTCCCCGCAAACGCGGTGCTGCTGGTAGTAGCAGTTTTGACTGTGGCTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa43664
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 |
---|---|---|---|---|---|
ENSDART00000031456 | Nonsense | 488 | 2237 | 5 | 32 |
ENSDART00000133441 | Nonsense | 520 | 2269 | 6 | 33 |
Genomic Location (Zv9):
Chromosome 21 (position 27009205)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 27578116 |
GRCz11 | 21 | 27614811 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGTCTCTGCCCCGTCCTACCTCCTAGCAGAGCCTCCCTCTCTACAAGCA[C/T]AGCAGCAAGTGGTGCGACCGAAAGATCTGAAGCTGCTACGGGCCGGGGGC
Long Flanking Sequence:
TGAGTACAGTTAGTAGCTACCGGAGCGAGAAAACAGACTCAACCCAGCTTGAGAGCCCCTCACTGGGCCAAACACATAAACCCGTGTCTAATGCTGATCCTGCAGCTTTGCCTCAGGGCAAAGGCCCCTATCAGCAGCCTGGAGATGTGCTGCAGGGTGGAAGTGACACAGATGACTTGTCAGACAGCGTGCTGCTACGCTCGCCCTCCAAAGAGCTTTCATCTGGGCAGGGCCTGGACAGAACTCTAGTGGAGGGGGAGGATCTTCCCCCTTTGCCTACAGACATTACACAGCCCTCATTGCAGGACTCTTCACCATCTAGCAGTGGTCCCTCTGAGACCTGCGATCTTGACAGTGGTATCCCTATCCCCCCTCTTCCTCCTCCACGCCAGGCCAGCTCTGTACCATCAGGTTTGGCACTGGGCTTGGTCTGCTCAGAGCCTGCTCTGCCAGTCTCTGCCCCGTCCTACCTCCTAGCAGAGCCTCCCTCTCTACAAGCA[C/T]AGCAGCAAGTGGTGCGACCGAAAGATCTGAAGCTGCTACGGGCCGGGGGCAGTGTAGGTCACCGGCCAGGTCGCAGGAAAGCTCCCCGCAAACGCGGTGCTGCTGGTAGTAGCAGTTTTGACTGTGGCTCTTACCGCCGGCATCACAACCGTGGCCAACACAGAGACTACATCCCTGTACGCAGTCGGCTGGGTGCCAAAGCCTACAGCGAGAGCTTGTTTGAGGACTCCAGTGACGAAGATGATGGCAGCGACATAAGTGCAGGATCTAGCCTGGGATCCCAACGTCACTTCAGCTCTGACGATGAAGACGACGATGAAGATGATGACTCGAGCTCCTCTACCTCCTGCTACTCTCCCGATCTGGCCAATGCTGGCATCTCTTCTCAACCTGGCCCCCCTCAGCTGCCAAGCCCTGGAGAAGGAGAGGAGCCTGACACAGTAGGACCCTCCCATGCTCGCAGTGCTCAGCGCTCAGCCAGCACAGCTAGTGCCAAGACT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11995
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 |
---|---|---|---|---|---|
ENSDART00000031456 | Nonsense | 766 | 2237 | 6 | 32 |
ENSDART00000133441 | Nonsense | 798 | 2269 | 7 | 33 |
Genomic Location (Zv9):
Chromosome 21 (position 27008188)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 27577099 |
GRCz11 | 21 | 27613794 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCAAGCATGACTCTGTTAGCAGTGTAAAGAGGACTCAGGCCATTCGAAGG[C/T]GACACAATGCTGGTAGTAACCCCACCCCACCCCCTTCYGCCATGGGCTCT
Long Flanking Sequence:
GCATGGATGGTGCAGGTGCAGGTTCCAACAACACAGGAACTCTTGCATCTACTATGATACCTTTAGCCCCTTCTTCTACTCCCGCCCCGCGTCCACTCACCATCTCTAAATCAGACCTGGAGGCTCGGACAATGCACTCAGAAGGCTTTTCCAGGGCACACCATAGGCTTGACTCACTTGGTGGCTCCTGGGCTGGGAACCAGACAGGCTGGAGGGCAGGAGAGCTGCTGGAAGAGGGAGCAGTAGGAGGAGGTGAGGAGTGAACAGATTTAGATTCTCAATATTTTTGTAATTGTGTAATTCATGTGATTCTGCTGTAGAATGTTTTTTTTTTTTTTTTTTTTGTTAGACCTTCATCATACCAGGCTAAATTCACCACAACATTCATCCTGAAAAATTCCCAACCTTGACAATCTGCTTGTTTTGCCTGTGTAGCCCCAGATGACGGAAGCAAGCATGACTCTGTTAGCAGTGTAAAGAGGACTCAGGCCATTCGAAGG[C/T]GACACAATGCTGGTAGTAACCCCACCCCACCCCCTTCCGCCATGGGCTCTCCTCCTAGCCTTCAGGACCTCCAGAGAGTCCGCACTTCCTCTCACTCTCGCACACGAACGCTCCCCTCTGCTCTGCACTTTGCTGCCTCCTCTCTGCTTCTACTACCCCGCAGTGGAGTTCACGAGGCTTCCACCTTTGATGACACCTCAGAGGGAGCTGTACACTACTTTTTTGATGAGAGCGGTAATTACTCACTTGTGCTATATATTTTTTGTAATGCAAATTTAATTTCTGGTTTAGTTGTTGTTTTGTTTAATATAAATGATTTAATTTTAGGGGTAAAGAGGTCTTATACTTTTGGGCCTGCTGGTGGAGGATATGAGGACCCGGTCCAGTAAGTGTTAACTTGTACATTTAGAGTAATACTTAGCATTTGCCCATTGTTTGACAACTTTTCATTTCCTCAGGGAGCGAGAGCGACAGTCACAGTCCTCCAGCTTTACGTCCAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10538
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000031456 | Nonsense | 1315 | 2237 | 18 | 32 |
ENSDART00000133441 | Nonsense | 1347 | 2269 | 19 | 33 |
Genomic Location (Zv9):
Chromosome 21 (position 27004351)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 27573262 |
GRCz11 | 21 | 27609957 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCTTTCTGTGTCTCAGATGCTGCTCAGCTCATGTGGTTTGAGAAGCTGTA[C/A]GCTTGGCTGCAGTGTGTGGAGAAGTATTTCATCTATCCGGCTGTAGTGCT
Long Flanking Sequence:
TTAAAAAATGGTCAAACTCTACTCTTTCACTTTAGGTGGCTTGTAGAATGAGCCTATTTTCAAAAAAAGGTGCAGGTTTTTTTTTTTAAGTATTAAACATCATTTCTATCTTTTTGAATAGAAGTGGAAATCTGGTTAATCGTAGCAAATGTGTTAATTCTGGTTGATTTGTTTTCTTCAACAAGTTTTTTTTAATTATTTAATTTCTTTTAATCTGTGGTTTCTTCACACCATTTCAGCCTGCTCTCAGTTTCGTCCTTTACATTTTGGCTGGGGTGGTGGGTTTTTTCACGCATTACCTTCTGCCTCAGCTGCGCAAACAGCTGCCTTGGTTCTGCTTGGCCCACCCTGTGTTGCGCTCTCGAGAATACAGCCAGTTTGAGGTCCGAGGTGAGCAGTCAAACCTACACTCACAAATGAATGTCTGAACAAGTGCGACGGACTGATCTCTCTTTCTGTGTCTCAGATGCTGCTCAGCTCATGTGGTTTGAGAAGCTGTA[C/A]GCTTGGCTGCAGTGTGTGGAGAAGTATTTCATCTATCCGGCTGTAGTGCTTAATTCCCTCACCACTGAAGCTCACACTGTCAGCCAAAACCCTGACAAACCTGGAGCCTAGTAAGAACAAGAACAAGAACATCCAGAAATCTCAAGATTTCTCTGAGCCCTAGTGTAGAGTAAAGCTCAACACTAGCTGATGTTGCACTTTTGTTTGGGATTTTAAATCTCAGCTTTTCACACTTAGATAATGATGATATCTTTTATCCGTTTTTTTTTAGTGGCCGTGCTTTGTTTATCTCGGTGGCTGGGATGAAGCTGCTTCGTTCATCATTCTGTGTCCCGTCCCACCAGTACGTCACTCTGTGCTTCACCGCCCTCTTCTTTCAGTTCGACTACCCGCACTTTTCACAGACCTTCCTCGTCGACTATTACTGCATGTCCATCCTCTTCAGCAAGGTCTGTGTATACGTCAACATTTCTGGTGCCACAAATTCAACATTTGTTGCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa37332
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 |
---|---|---|---|---|---|
ENSDART00000031456 | Essential Splice Site | 1667 | 2237 | 24 | 32 |
ENSDART00000133441 | Essential Splice Site | 1699 | 2269 | 25 | 33 |
Genomic Location (Zv9):
Chromosome 21 (position 26981382)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 27550293 |
GRCz11 | 21 | 27586988 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCTTCAAGTGTTCGACCTACGCAAGATCCTCATCACATATTATGTCAAG[G/A]TCAGTTTCACTCAGACAAAAACAACTTAAATGAAAGGACTGCTGTCTGAG
Long Flanking Sequence:
TAAAGATTTCTAATTATAACATGAACCAAAAAAAGTACCCTCATATTTGCGTGTGATTTTTAGTACGGCTATAGTAGAACTACAGTAACCAAATGACCTTTTAGTAAACCATTCATTCATTATAAACCCTTTTTTTGTTATTAAAACCTTTTGTGGAATAATAAAGTTTGTGACAATTTTGGTAATTAGTTTGCAGTCTATGCGTTTTCATCTTTATTTTCTTTTTTTGAATGACTGTGTTTTCAGGAACATATTGTCAGCAGAGGGAGGTGGAGGCAATCACAGAAGGGGTGGAGGAAGATGAAGGCTGCTGCTGTTGTGAGCCAGGTCATCTCCCCCACATGCTCTCCTTTAACGCAGCTTTTGGTCAGCGCTGGTTGGCTTGGGAAGTGGCCGCCACCAAATATGTGCTAGAGGGCTACAGCATCAGCGACAACAACGCAGCCTCCATGCTTCAAGTGTTCGACCTACGCAAGATCCTCATCACATATTATGTCAAG[G/A]TCAGTTTCACTCAGACAAAAACAACTTAAATGAAAGGACTGCTGTCTGAGATGCAGAGTAATGATCAAAGTCTGTCCTCCTCAGAGTATCATCTACTATGTGAGCCGCTCGTCCAAACTGGAGGAATGGTTAGCCAACGAAACGGTGCAGGAAGCGCTACGGCCCTGCCTCAACCCTGCCTATGTGGACAGCGATCCCACCTTCAACTTAAACATAGATGAAGACTATGACCACCGAGCTTCTGGCATTACTCCCTCTTCCTTCTGTCTGGTGTACTTGGAGTGGATCAAATACTGCAACAGCCGCAGACAAACGGTACTTTAAAAATGATTTTGCTATTGACAGACACTAGCTTGGTTGCATGGGAATTAAATATGTGATTTAGTGCTTTTTTGTTTATTTTCTTTCTTTGCAGCCAGTTGAGAGTGAGAAGGATTCGCCTCTGGTCACACTGTGTTTTGGGTTGTGTATTCTGGGCCGTCGAGCTCTGGGTACCGCAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa6677
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000031456 | Nonsense | 1676 | 2237 | 25 | 32 |
ENSDART00000133441 | Nonsense | 1708 | 2269 | 26 | 33 |
Genomic Location (Zv9):
Chromosome 21 (position 26981272)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 27550183 |
GRCz11 | 21 | 27586878 |
KASP Assay ID:
554-5254.1 (used for ordering genotyping assays)
KASP Sequence:
AATGATCAAAGTCTGTCCTCCTCAGAGTATCATCTACTATGTGAGCCGCT[C/A]GYCCAAACTGGAGGAATGGTTAGCCAACGAAACGGTGCAGGAAGCGCTAC
Long Flanking Sequence:
ATTCATTCATTATAAACCCTTTTTTTGTTATTAAAACCTTTTGTGGAATAATAAAGTTTGTGACAATTTTGGTAATTAGTTTGCAGTCTATGCGTTTTCATCTTTATTTTCTTTTTTTGAATGACTGTGTTTTCAGGAACATATTGTCAGCAGAGGGAGGTGGAGGCAATCACAGAAGGGGTGGAGGAAGATGAAGGCTGCTGCTGTTGTGAGCCAGGTCATCTCCCCCACATGCTCTCCTTTAACGCAGCTTTTGGTCAGCGCTGGTTGGCTTGGGAAGTGGCCGCCACCAAATATGTGCTAGAGGGCTACAGCATCAGCGACAACAACGCAGCCTCCATGCTTCAAGTGTTCGACCTACGCAAGATCCTCATCACATATTATGTCAAGGTCAGTTTCACTCAGACAAAAACAACTTAAATGAAAGGACTGCTGTCTGAGATGCAGAGTAATGATCAAAGTCTGTCCTCCTCAGAGTATCATCTACTATGTGAGCCGCT[C/A]GTCCAAACTGGAGGAATGGTTAGCCAACGAAACGGTGCAGGAAGCGCTACGGCCCTGCCTCAACCCTGCCTATGTGGACAGCGATCCCACCTTCAACTTAAACATAGATGAAGACTATGACCACCGAGCTTCTGGCATTACTCCCTCTTCCTTCTGTCTGGTGTACTTGGAGTGGATCAAATACTGCAACAGCCGCAGACAAACGGTACTTTAAAAATGATTTTGCTATTGACAGACACTAGCTTGGTTGCATGGGAATTAAATATGTGATTTAGTGCTTTTTTGTTTATTTTCTTTCTTTGCAGCCAGTTGAGAGTGAGAAGGATTCGCCTCTGGTCACACTGTGTTTTGGGTTGTGTATTCTGGGCCGTCGAGCTCTGGGTACCGCATCTCACAGCATGTCTGCCAGGCAAGTGTTTAAACCAATTACAGCAATTTTGCATAAGCTGACAAGTTTTTTTTTTGTTTTTTTAAATGCCTTTTGCACCTTTCACGCATCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa45739
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000031456 | Essential Splice Site | 1745 | 2237 | 26 | 32 |
ENSDART00000133441 | Essential Splice Site | 1777 | 2269 | 27 | 33 |
Genomic Location (Zv9):
Chromosome 21 (position 26980967)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 27549878 |
GRCz11 | 21 | 27586573 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGAATTAAATATGTGATTTAGTGCTTTTTTGTTTATTTTCTTTCTTTGCA[G/T]CCAGTTGAGAGTGAGAAGGATTCGCCTCTGGTCACACTGTGTTTTGGGTT
Long Flanking Sequence:
GGGCTACAGCATCAGCGACAACAACGCAGCCTCCATGCTTCAAGTGTTCGACCTACGCAAGATCCTCATCACATATTATGTCAAGGTCAGTTTCACTCAGACAAAAACAACTTAAATGAAAGGACTGCTGTCTGAGATGCAGAGTAATGATCAAAGTCTGTCCTCCTCAGAGTATCATCTACTATGTGAGCCGCTCGTCCAAACTGGAGGAATGGTTAGCCAACGAAACGGTGCAGGAAGCGCTACGGCCCTGCCTCAACCCTGCCTATGTGGACAGCGATCCCACCTTCAACTTAAACATAGATGAAGACTATGACCACCGAGCTTCTGGCATTACTCCCTCTTCCTTCTGTCTGGTGTACTTGGAGTGGATCAAATACTGCAACAGCCGCAGACAAACGGTACTTTAAAAATGATTTTGCTATTGACAGACACTAGCTTGGTTGCATGGGAATTAAATATGTGATTTAGTGCTTTTTTGTTTATTTTCTTTCTTTGCA[G/T]CCAGTTGAGAGTGAGAAGGATTCGCCTCTGGTCACACTGTGTTTTGGGTTGTGTATTCTGGGCCGTCGAGCTCTGGGTACCGCATCTCACAGCATGTCTGCCAGGCAAGTGTTTAAACCAATTACAGCAATTTTGCATAAGCTGACAAGTTTTTTTTTTGTTTTTTTAAATGCCTTTTGCACCTTTCACGCATCCAGCAATTTTACAGAATGATGTTTGTAGCGCTGCTTCATGTCCTAACTAGCAAAAGCTTTTTATAAGCTGACAGCAAGTGTCTTGGGTGACTTGGGATGGTTGGTTTAATAAAAAAAATATATCTGATTTTTTTTTTCCTAATAAAAAAGTTATTATATAGATGTATTATACAGCAAAGGGAATTGCACCAGAGATTTGGCCATTAGTCGCAGACAGGAAGATAGTGTGCATATGTGAACAATATCATGCGAGTAGCTGTGTAATTTAGCTGTACATTGGCTGTGAACACAACCATATTGCACTGC
Associated Phenotype:
Not determined