ZMP
fbn2a
Ensembl ID:
ZFIN ID:
Description:
Fibrillin 4 [Source:UniProtKB/TrEMBL;Acc:B6D7H2]
Human Orthologues:
FBN1, FBN2, FBN3
Human Descriptions:
fibrillin 1 [Source:HGNC Symbol;Acc:3603]
fibrillin 2 [Source:HGNC Symbol;Acc:3604]
fibrillin 3 [Source:HGNC Symbol;Acc:18794]
fibrillin 2 [Source:HGNC Symbol;Acc:3604]
fibrillin 3 [Source:HGNC Symbol;Acc:18794]
Mouse Orthologues:
Fbn1, Fbn2
Mouse Descriptions:
fibrillin 1 Gene [Source:MGI Symbol;Acc:MGI:95489]
fibrillin 2 Gene [Source:MGI Symbol;Acc:MGI:95490]
fibrillin 2 Gene [Source:MGI Symbol;Acc:MGI:95490]
Alleles
There are 15 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa17112 | Nonsense | Available for shipment | Available now |
sa34872 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa31772 | Nonsense | Available for shipment | Available now |
sa41615 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa21697 | Essential Splice Site | Available for shipment | Available now |
sa41614 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa21696 | Essential Splice Site | Available for shipment | Available now |
sa34871 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa21695 | Essential Splice Site | Available for shipment | Available now |
sa14555 | Essential Splice Site | Available for shipment | Available now |
sa34870 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa14044 | Nonsense | Available for shipment | Available now |
sa27582 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa17112
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 |
---|---|---|---|---|---|
ENSDART00000073604 | Nonsense | 55 | 1850 | 3 | 45 |
Genomic Location (Zv9):
Chromosome 10 (position 16410386)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 16501543 |
GRCz11 | 10 | 16459662 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTAAACCACTGATTATATTTTTTTCTTCTGTTTTACTCTCTAAAGCCAAA[C/T]AATGCWAWAYAAGGTGTATGAATGGAGGAGTGTGTGAAGATGACTATTGY
Long Flanking Sequence:
CTATGCGATGGAATTTAGAAGTAGTATTGAATTTATTAATAGAAAGTAGCATTGAGTCAACAATTTTAATTACTTTTTAATGTAATTAGAAATTTATTTTAAGTATAATTTTAATAATGCAATAAGTAATAAGCATTTAGAAATGAATGACTTTTTTAAATAACTGACTCTACACAGGTAACACTTGAGCTCTGATAGCACATATACATTGGAGACGTCTGTTTGCGAGACATATTAATTAGAGCATTAAATAGATGTTATATGTTTTTAAGATGTTTAAAATGTACAATATTCATATAAAAGACCTTTTAAAAGCATTTATAAGGTCATTGTACACAGCAGATATTTTACAGACCTTCTTTCTTACAGATATTCTTATGAATACATCTTGCAGATTTAATGGCTCTGTCTTGGACAATATCCTAACCAATTTTAACATGAACCACCACATTAAACCACTGATTATATTTTTTTCTTCTGTTTTACTCTCTAAAGCCAAA[C/T]AATGCAATATAAGGTGTATGAATGGAGGAGTGTGTGAAGATGACTATTGCCAGTGTCCAAAGGGATATACAGGAAGCTTTTGTGGACAACGTAAGTATATGGCTTCTGCTTACATCCTTACTGTAAATTGTGTTGGTGACCTCTGCCTGTGTTTATTCCTCTCATGTTGTCACTTATTGCCCACTAATGCTAAAAAATATAAGTAAATAAAGAAATAAAGAAAAAAATACATCCAGTATCATTTGTCCTACAGTATAACGTCTGCAGATCTCCTGATACATGGCCTACAAGTTTGTAATGCTTCCATTGCTGCTTGTTTTGGGCCTAGATGTGAAATTATGTTAAACTCTTGGTATTCTTCACATGATACCTGCTGTTTTAGTGTTTATTTGTTACTTAGCATCTACAGAGTATTGTGCTTTCGATTGCAATTCCAAGTATTTTTGGAACTCAGCTACCTAGCTAACATGAAAACAACTGTCATATTTCCTAGTCTCTCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa34872
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 |
---|---|---|---|---|---|
ENSDART00000073604 | Nonsense | 159 | 1850 | 5 | 45 |
Genomic Location (Zv9):
Chromosome 10 (position 16404253)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 16495410 |
GRCz11 | 10 | 16453529 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTAAGGCCTTGTGCTGTGCCACAGTGGGTCAAGCGTGGGGTCACTCGTGC[G/T]AGCAGTGCCCACCTATCAGCTCGCCCTGCACCAGAGGGTTCATCCCAAAC
Long Flanking Sequence:
TTTAATTTCAAATCTATTATGTTGGTTTATAGAGCCAAAAATGTTAAAATTGTGTTGATGTCCCAATATTTATGGACCTAACTGTATATAATCAGTACATCATAAAATTATACTACATGCACTTTTGCTAACTGAATTGAGTTTGACTGCATTATTGTCTGCGTCTCTCTGTTTATCAGCTGTACTGGATTCTGTATTGTTCTGTAATTCTAGAAGGACAGTTTATTTCTAATTGCCTTTTGTCATGAATTTAAAATATTTGTGCATATGCAACAAATAATAATTGGACAATAATAATGTACAATAAACTACTTTCCTGATAATATAATTTATAATAATAATTGTGCATTCTTTTCTTGTTTATGTAAATCGCAGACTACCGGACAGGCCCATGCTTCATCCAAGTGCACAGCAGGAAGTGTGCAGGTCAGAGCAGTGAATTTGTTTGCAGTAAGGCCTTGTGCTGTGCCACAGTGGGTCAAGCGTGGGGTCACTCGTGC[G/T]AGCAGTGCCCACCTATCAGCTCGCCCTGCACCAGAGGGTTCATCCCAAACACCCGCACAGGAGCCTGCCAAGGTCAGCACTGATTTTATAACATTGTTACAGTGATTATTGTACAGTAACATATGAATAGCCATGTTTTTATTTAGAAATTCTGGCCAGAGGAATGTCTATGAAAAAGAGGACATAGGGTTACCCTAGTTACATTTATAACTTTGGTTGAAAACATAGGTCATGTGAAATGCTTAGTAATAGTTTTTTATGAATGTGTTCTTTAATTTAATAGAATTTTGGGGATTTTGTTTTAAAGAAAATACATTGTTCTTGGAATCTAAAGTGATTCTAACAAGTCAGGAATATAAGAATGACAGACTTAAAGGTGAAAGACAATGTATTTATCTCATTATTTTCACTTATGAAATACCATAATGGCGAGGCAGTGGCGCAGTAGGTAGTGCTGTCTCCTCACAGCAAGAAGGTCGCTGGGTCGCTGGTTCGAACCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa31772
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 |
---|---|---|---|---|---|
ENSDART00000073604 | Nonsense | 713 | 1850 | 17 | 45 |
Genomic Location (Zv9):
Chromosome 10 (position 16370068)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 16461225 |
GRCz11 | 10 | 16419344 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATCTCCGAGGAAATTTCCGCTGCGTCTGTAACATTGGCTATGAAAGTGAC[C/T]AGAGCGGCAGAAACTGTTTAGGTCAGTTGACATTTAATATAATTACTTAC
Long Flanking Sequence:
ATTTTCTGTTGTTTACTGAAAAAAATGCTGGGTTGCACACAATTCCAACATGTTTCAACACAGATTGATTAAGTTACCCTAATATTTTTTATCAATTTAACTGGATTAAACATAAAATAATTAAGGTGTCTCAAGAAAAACATTAGAATTTTGTTGTTTCATCTAATTTAAACAAGTACTTTGACCAAGAAGCTAAAGTTGAGTGTTTGCATGATGTGCAGTTTCTGTTTTTAACTATTTACAAAGTAAGCATGTGAATGATGTATAGCTTTGAATCTATATTGTTCTTAATCTACTAAAACTTTGCTTAAAATATACCATTTGTCACATTAGTGAATATGACGTGTCTTTTTAAGTGATTCTTTTGATAATTTCTTTTATTTATTTGTGAGGCAGACATTAATGAGTGTGCTCTGGATCCGGATATCTGCTCAAATGGAGTGTGTGAGAATCTCCGAGGAAATTTCCGCTGCGTCTGTAACATTGGCTATGAAAGTGAC[C/T]AGAGCGGCAGAAACTGTTTAGGTCAGTTGACATTTAATATAATTACTTACAAGTTACTACCATGAGCTGTCAGGATTGATTTAAGAATTCAAGCCTGTACAAATCAAATTTAGTTGACAAGTGACAATTTTAGTGTGCATCACACAGGCCCTATTTACACCTGTATTAAGATGTGTTTTCATTGAAAGAGGGACATTTTCATTTACACCCAATGGTAAATGTGGGATTTGTCTCATCTTTCGATTGAAATGTAAGAAATAAGCTAAGCCAGTTTGTTGGTCAACGATTTTTATCCATTCATTCATTTTCTTGTCGGCTTAGTCCCTTTTTTAATCCAGGTTCGCCACAGCAGAATGAACTGCCAACTTATTCAGCACATTTTTACTCAGCGGATGCCCTCCTAGCCGCAACCCATCATACACACACTCATTCACTATGGACAATTTAGCCTACCCAATTCACCTTTACCGCATGTCTTTGGAATGTGGTTGAAACTGGAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa41615
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 |
---|---|---|---|---|---|
ENSDART00000073604 | Nonsense | 743 | 1850 | 18 | 45 |
Genomic Location (Zv9):
Chromosome 10 (position 16362989)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 16454146 |
GRCz11 | 10 | 16412265 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACAGTCTCCTCTGTGATAATGGCCTGTGCCGGAATGTTCCAGGAAGCTA[C/A]AGTTGCACCTGCCCGGCGGGGTTCATCTTCAGACATGACACAGAGACATG
Long Flanking Sequence:
TCAAAAAATATAGCTTAAAGGGGCTAAAATATTGACCTTGAAATGTTTTTTAAAAAATTCAAAACAGCTTTTATTCTAGCTGAAATAAAACAAATAAGAAGAAAAAATATTATCAGACATACTGTAAAAATTTCCTTGCTTTGTTAAGCATCATTTGAGAAATATTTAAAAAAATATATATATAATATAAAAGTATAATTATTCAGACTTAACTTACTGTAATTATTTTTTTTTTTTTTGGTGAACTAAACCTTTTAATCTTTTAAATTTCAACTGACTCTATAGTTTCTAATTAACATTATTAACATAATTAACATTCCTGTACATTAAAAATAAAGTTGTCGTTTGACATATAGACAAATATTTGACGTGAAAAAGTCAAGATGTTATCCAATGTGTCTCATAATGACGCAGCGTCCTCTGTTTGCAGATATTGATGAATGTGTGGTGAACAGTCTCCTCTGTGATAATGGCCTGTGCCGGAATGTTCCAGGAAGCTA[C/A]AGTTGCACCTGCCCGGCGGGGTTCATCTTCAGACATGACACAGAGACATGTGAGGGTCAGTATCAAGAGCTTCTGAGATCACACAGATTCTTGTCACTTTACGTTTTTCCCCTTCAGTTTCTGCCTATGTGGAAACATGCTATAAATTCCAGAGGCAGGTGTTTACAGTGTTCCACTTAAAACAAGACAGGCCTTACATGCCCTAACATGTATTGGAAAATGGATTAACATAACAGCTTTTTAAAATAGATTTCTTAAAAGTTTTTTAAAAAAGGCTTATCAAGGCTGTATTTATTTTATTAATACTGATTAAATAAATTGCATTCAGTTCTGATTCAATAACAAATTAAATTTTTGATTCAATAACAAAGTAATATTTTGTGACATTGTTAGTTTAAAATAACTGTTTTTTCATTTATTCCTCTGACAGCAAACCTTGCTAGTTTTTAGGTGTCAGTACTTCAATTTTCAGTACCACATAATCAGAAATCATTCTAATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21697
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000073604 | Essential Splice Site | 865 | 1850 | 21 | 45 |
Genomic Location (Zv9):
Chromosome 10 (position 16356846)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 16448003 |
GRCz11 | 10 | 16406122 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTAGTGTGCGAACGAGGATTTGCTCAGTCAAGAGGGGCTTCATGTGAAGG[T/C]GACAGTTTCATAGAAACGACTTTAACATAAACTCTGTTTTCTCTGATTTT
Long Flanking Sequence:
CTGGGTTGTTTTGCATCTTTGCAAGCTTTAAAATTACACACTGGACCACCCCTTTAAAATATTATTTTTGCTCACCAAAGCTGCATTTATTTGATTAATACAATAAAGAAAGTAATGTCATGATTTTATTAATACATTTTCAGCAGTCACAACTTCACTTTTTATTATTACATGATCCTGTAATTTAGTTTAGTTTAATAACTGTACAGCAATAACTGTAATTTAGTTATTGCTGATTTAGTTTGAGTGATTTTTTAGAACTACTTCATATAAGTATTAAAGAAAGTAGTATTAAAGTTTTAAAGTATTAAAGAAAGTATGCTGCTTAGAATTTCTGTCATTAAAAAAAATTCTTGTTAACAAATAATTGCATTGTCTTTGTTTCACATGCCGTATATATTTACATGATTATTTATGTGATTAACTATGTGATTATTTATGTGTCCAGATCTAGTGTGCGAACGAGGATTTGCTCAGTCAAGAGGGGCTTCATGTGAAGG[T/C]GACAGTTTCATAGAAACGACTTTAACATAAACTCTGTTTTCTCTGATTTTGAATTATAAAGCTTACTAAGGTAAAAATGCCCACCTCTCCTCTCTCTCCCTGTGTAGATGTGAATGAATGTGAGGTGTTTCCTGGTGTGTGTCACAATGGACACTGTGTGAACACTAGAGGCTCATTTAAATGTCAGTGCCCAGAAAGCCTCACACTGGATGTCACTGGACGCCTCTGTGTTGGTAAACCACCCTAATTTTGTGTCAAAGTATAATTCAAAGTGTAATTTAGTTGTTTTATTAGATCATAATTGCTTGATTCATATGGATTTAGGTGTCTTTATGAACTTTTGGGGTGACACAGTGGGGCAGTGGGTAGCGCTGTTGCCTCATGGCAAGCAGGTCGCTGGTTCAAGCCCCGGATGGGTCAGTTGACATCTGTGTGGAGTCAGTCACTCAGTCTTTATTCATTTCCCCCAGGGCATTCATTTCCTTTATTCATTTCCCGAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa41614
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 |
---|---|---|---|---|---|
ENSDART00000073604 | Essential Splice Site | 906 | 1850 | 22 | 45 |
Genomic Location (Zv9):
Chromosome 10 (position 16356612)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 16447769 |
GRCz11 | 10 | 16405888 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCAGTGCCCAGAAAGCCTCACACTGGATGTCACTGGACGCCTCTGTGTTG[G/A]TAAACCACCCTAATTTTGTGTCAAAGTATAATTCAAAGTGTAATTTAGTT
Long Flanking Sequence:
GATTTAGTTTGAGTGATTTTTTAGAACTACTTCATATAAGTATTAAAGAAAGTAGTATTAAAGTTTTAAAGTATTAAAGAAAGTATGCTGCTTAGAATTTCTGTCATTAAAAAAAATTCTTGTTAACAAATAATTGCATTGTCTTTGTTTCACATGCCGTATATATTTACATGATTATTTATGTGATTAACTATGTGATTATTTATGTGTCCAGATCTAGTGTGCGAACGAGGATTTGCTCAGTCAAGAGGGGCTTCATGTGAAGGTGACAGTTTCATAGAAACGACTTTAACATAAACTCTGTTTTCTCTGATTTTGAATTATAAAGCTTACTAAGGTAAAAATGCCCACCTCTCCTCTCTCTCCCTGTGTAGATGTGAATGAATGTGAGGTGTTTCCTGGTGTGTGTCACAATGGACACTGTGTGAACACTAGAGGCTCATTTAAATGTCAGTGCCCAGAAAGCCTCACACTGGATGTCACTGGACGCCTCTGTGTTG[G/A]TAAACCACCCTAATTTTGTGTCAAAGTATAATTCAAAGTGTAATTTAGTTGTTTTATTAGATCATAATTGCTTGATTCATATGGATTTAGGTGTCTTTATGAACTTTTGGGGTGACACAGTGGGGCAGTGGGTAGCGCTGTTGCCTCATGGCAAGCAGGTCGCTGGTTCAAGCCCCGGATGGGTCAGTTGACATCTGTGTGGAGTCAGTCACTCAGTCTTTATTCATTTCCCCCAGGGCATTCATTTCCTTTATTCATTTCCCGATTTAGTTGCAGCACACAAGCATATTACACATAATACAAAAAACACATTGTACAATGCAAATCTACCCTAAATTTAAAAACTTTACAGTTGAGGGGATGAATGAAAGTTTAAACCGATATTTTTTATTAATAGGAGTTCTGTATCGAATACCAGAAGATAAAACTCGTGGTGCATAGTATGGGAATCATCTGACAGAATTCTCTGAGCTTTGCTCAAAACTTGTCTATGGTATAAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21696
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:
T > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000073604 | Essential Splice Site | 983 | 1850 | 23 | 45 |
Genomic Location (Zv9):
Chromosome 10 (position 16355304)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 16446461 |
GRCz11 | 10 | 16404580 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGCTTCGCCAACAAAGGAGACGTTCTCACTGGCAGAGCTGTCTATAAAGG[T/G]CAAAAAGATTTTGATCTTTGATTTTGAATATTTAGCTTTTACTGTTATAT
Long Flanking Sequence:
TTCCACTGTGGCAACCCCTGATTAATAAAGGGATTAAGCCATAAAGAAAATGAATGAATGAATGTACCTTTGAAGCTTGAACCCAGATTTTAGACTGAATAAACTGAATAAAATAGGATAAGACAATGTTAAAAACAACTTAATTTCAGTCGTTTATCTGTGTAATGTATTACAAAAAATAGAAAAAAAGTCTTTTGGATATTATTAAAATAAAGTATTAAAAACATCTGTGCAAAATGATGGGAGTAAATTATTTGTTTTGTCCAAACAGATGTTCGTTCGGAGCCGTGCTTTCTTACTTACGAAGAAGATGTGTGTACACAGCCGGTACCAGGACGCTTCCGCATGGACATGTGTTGCTGTACGGTGGGTTTGGCTTGGGGCAAAGATTGTGACTTATGTCCTGAGCCTGGTACTCGGCAGTTTGACACCCTGTGCCCAAGAGGACCAGGCTTCGCCAACAAAGGAGACGTTCTCACTGGCAGAGCTGTCTATAAAGG[T/G]CAAAAAGATTTTGATCTTTGATTTTGAATATTTAGCTTTTACTGTTATATTATACTGTTATTCTGTTATAAAATTTATTTATAAAGTAAGTTTATAAATGGAGCTATTCCCTCTTCATCAGATATCAATGAGTGCAAAGTTTTCCAAAGCATTTGTGTCCATGGGAAATGTCGGAACACCATTGGGAGCTTCAGATGTCGCTGTGATAGTGGATTTGCACTGGATACCAATGAGAAAAACTGCACAGGTAAAACAAATCATTTTCATTACACCATGCATTTACAGTATGATGATAGTAATAAATTGTATTCTATAGACTGGGTTGTCACGATACCATTAATTCATGTAAGGATACTATATCAGCTAAAGTATTGTGATATCATGTAGTATTGCAATACTGCATTAATCAAATCCATGAAGAAAAAAAATGGCAGAAATATTATATTTTATTTGTTATAATATGCTCTCTTGAATTGAATTAATGATTCCCTTTTTATTGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa34871
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 |
---|---|---|---|---|---|
ENSDART00000073604 | Essential Splice Site | 1024 | 1850 | 24 | 45 |
ENSDART00000073604 | Essential Splice Site | 1024 | 1850 | 24 | 45 |
Genomic Location (Zv9):
Chromosome 10 (position 16355056)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 16446213 |
GRCz11 | 10 | 16404332 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCGCTGTGATAGTGGATTTGCACTGGATACCAATGAGAAAAACTGCACAG[G/A]TAAAACAAATCATTTTCATTACACCATGCATTTACAGTATGATGATAGTA
Long Flanking Sequence:
AATTATTTGTTTTGTCCAAACAGATGTTCGTTCGGAGCCGTGCTTTCTTACTTACGAAGAAGATGTGTGTACACAGCCGGTACCAGGACGCTTCCGCATGGACATGTGTTGCTGTACGGTGGGTTTGGCTTGGGGCAAAGATTGTGACTTATGTCCTGAGCCTGGTACTCGGCAGTTTGACACCCTGTGCCCAAGAGGACCAGGCTTCGCCAACAAAGGAGACGTTCTCACTGGCAGAGCTGTCTATAAAGGTCAAAAAGATTTTGATCTTTGATTTTGAATATTTAGCTTTTACTGTTATATTATACTGTTATTCTGTTATAAAATTTATTTATAAAGTAAGTTTATAAATGGAGCTATTCCCTCTTCATCAGATATCAATGAGTGCAAAGTTTTCCAAAGCATTTGTGTCCATGGGAAATGTCGGAACACCATTGGGAGCTTCAGATGTCGCTGTGATAGTGGATTTGCACTGGATACCAATGAGAAAAACTGCACAG[G/A]TAAAACAAATCATTTTCATTACACCATGCATTTACAGTATGATGATAGTAATAAATTGTATTCTATAGACTGGGTTGTCACGATACCATTAATTCATGTAAGGATACTATATCAGCTAAAGTATTGTGATATCATGTAGTATTGCAATACTGCATTAATCAAATCCATGAAGAAAAAAAATGGCAGAAATATTATATTTTATTTGTTATAATATGCTCTCTTGAATTGAATTAATGATTCCCTTTTTATTGAAAAAAGTATTTGCATGTCTCTTCACCTAAAATGTATTCGTACCAGCAAAAATATGATTAAAATAAAGATACAAATTATACCAAATGAAATTCGTTACCCAATAAACTTAGGGTATATGAAGTGGTCAATGTTTCCTGTTGCTATTTGGGTTTTTCATCTATTATTATTATATTTTTTTATCTTATCAGGTAAGAATCCAGAGTATTTCACTCTGTGAGTTGTTCTTTTTAAGAGATTGTCACGGTTGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21695
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000073604 | Essential Splice Site | 1024 | 1850 | 24 | 45 |
ENSDART00000073604 | Essential Splice Site | 1024 | 1850 | 24 | 45 |
Genomic Location (Zv9):
Chromosome 10 (position 16355056)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 16446213 |
GRCz11 | 10 | 16404332 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCGCTGTGATAGTGGATTTGCACTGGATACCAATGAGAAAAACTGCACAG[G/A]TAAAACAAATCATTTTCATTACACCATGCATTTACAGTATGATGATAGTA
Long Flanking Sequence:
AATTATTTGTTTTGTCCAAACAGATGTTCGTTCGGAGCCGTGCTTTCTTACTTACGAAGAAGATGTGTGTACACAGCCGGTACCAGGACGCTTCCGCATGGACATGTGTTGCTGTACGGTGGGTTTGGCTTGGGGCAAAGATTGTGACTTATGTCCTGAGCCTGGTACTCGGCAGTTTGACACCCTGTGCCCAAGAGGACCAGGCTTCGCCAACAAAGGAGACGTTCTCACTGGCAGAGCTGTCTATAAAGGTCAAAAAGATTTTGATCTTTGATTTTGAATATTTAGCTTTTACTGTTATATTATACTGTTATTCTGTTATAAAATTTATTTATAAAGTAAGTTTATAAATGGAGCTATTCCCTCTTCATCAGATATCAATGAGTGCAAAGTTTTCCAAAGCATTTGTGTCCATGGGAAATGTCGGAACACCATTGGGAGCTTCAGATGTCGCTGTGATAGTGGATTTGCACTGGATACCAATGAGAAAAACTGCACAG[G/A]TAAAACAAATCATTTTCATTACACCATGCATTTACAGTATGATGATAGTAATAAATTGTATTCTATAGACTGGGTTGTCACGATACCATTAATTCATGTAAGGATACTATATCAGCTAAAGTATTGTGATATCATGTAGTATTGCAATACTGCATTAATCAAATCCATGAAGAAAAAAAATGGCAGAAATATTATATTTTATTTGTTATAATATGCTCTCTTGAATTGAATTAATGATTCCCTTTTTATTGAAAAAAGTATTTGCATGTCTCTTCACCTAAAATGTATTCGTACCAGCAAAAATATGATTAAAATAAAGATACAAATTATACCAAATGAAATTCGTTACCCAATAAACTTAGGGTATATGAAGTGGTCAATGTTTCCTGTTGCTATTTGGGTTTTTCATCTATTATTATTATATTTTTTTATCTTATCAGGTAAGAATCCAGAGTATTTCACTCTGTGAGTTGTTCTTTTTAAGAGATTGTCACGGTTGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14555
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:
T > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000073604 | Essential Splice Site | 1110 | 1850 | 26 | 45 |
Genomic Location (Zv9):
Chromosome 10 (position 16350456)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 16441613 |
GRCz11 | 10 | 16399732 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTGTGTCCGCCTGGTCATCATCTGTCTGTGGATGGCAGTGCCTGTGAAGG[T/G]GAACTAAATCATGTCMTTTGTGTGGGCTATATCTCACTCTTGTTTGTCAA
Long Flanking Sequence:
GATCTCTCCTGATGTCTGTGGTCATGGCACATGTGTGAACACTTTGGGCAGTTTCCAATGTGACTGTTTTCCTGGCTACGAAAGTGGAATCATGATGATGAAGAACTGCATGGGTGAGTGACACTTTACTATTTATGGTGTGCTTCAGTCAATCAAATAATAAATTATTCGGGACATGGCATTGGTGGCTCAGTGGTTAAATCTCTTGACATTTTCACTTTCCTTTATGTACTTGCGTTTTACTTACTGCATTAAATTCAATATAGTAAAACCTTAAATGTGCCTTTTTAATTACATGTTTCTTGTAGTAACTCATGTACATATTTGCAAAACCATTATTTTCCACACTAATCCTGACCATGTTATGCTGTAGATATTGATGAATGTGAGCGTAACCTTTCACTGTGCAATGGAGGCACCTGTGAAAACACTGACGGCAGCTACAAGTGTGTGTGTCCGCCTGGTCATCATCTGTCTGTGGATGGCAGTGCCTGTGAAGG[T/G]GAACTAAATCATGTCATTTGTGTGGGCTATATCTCACTCTTGTTTGTCAAAATAAGCGCATTGTGCCAAATGAATCATTTCAATGTAAGTACATATTAGTTAAGGACACTTAATGTAAAGTGGAACTGTTTTAACCCAAAATAGATTTTGACCTAATTCTTGTCATTGATCTGACGGATATTACTGTTTGTCTGCAGACGTGAACGAGTGTGATCTGAGTAGCACACTTTGTCCTAATGGCTGGTGTGTGAATTTGGTGGGAACCTACCAGTGCTCTTGTAACTCTGGCTACCAGACGACACCTGATTGGAAGGGTTGCACAGGTCAGAACTGTAGATCGACTAGTCAAAAGTTTAAGGTGTTTTTGAGAATTAATTGTGAATTATTTTATTCTTTCATTCATTTTTTGCCTTTATTTCTATACACTACCTGACAAAAGTCTTGTCGCCTATCCAAGTTTTAGGACCAACAAATAATAAGGCCTCTAGATTACATTTAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa34870
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 |
---|---|---|---|---|---|
ENSDART00000073604 | Nonsense | 1572 | 1850 | 38 | 45 |
Genomic Location (Zv9):
Chromosome 10 (position 16308838)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 16400096 |
GRCz11 | 10 | 16358215 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTTGTCAGATATCGATGAGTGTCAGGAGCTGCCCGGCGTCTGTCAGGGT[G/T]GAAACTGTGTTAACACATTCGGAAGTTTCCAGTGTGAATGTCCAGCCGGA
Long Flanking Sequence:
ACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGACAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATTGAAGCAGAAGTCATGAATGGAGATGCTTTCAAAACACCAGCTGTATACCAGCTGGATACAGTTTGTCTTGGAATTACAGAAACCACACTTTAATACCCTCGAAAAGGGTTTCTTTTTCTCACTGAATTTCCTGGATATTGCAGGCGCCAGGGAGCTGCCATCAATATGCAAAGACTTTCTGACCTTCTTGTAGAGGCAGGATGAAATGTTTTTTCTTTTCTTTTTTGTATCTTTGTTTATTTCTTTTGAATTGTGTTTCTTTTTTTTCTTTTTTTTTCTTGTTGTCAGATATCGATGAGTGTCAGGAGCTGCCCGGCGTCTGTCAGGGT[G/T]GAAACTGTGTTAACACATTCGGAAGTTTCCAGTGTGAATGTCCAGCCGGATTCTACCTTAACACACAGAGCCGCATCTGTGAAGGTGAGAGAGGTTCACTTATGCTTTTTTAACAGAGAAACGCTCAAGAGCAGGGGCGTAATTTTCACTAAGGGACCACTTTTCAAAATCCTGTTTGTGTCCCCCCACTTTTACTGTTTTTCTCAGTCGCATTAGTGCATTTGCACAACAGTGAATGCATTCCTCAAAGCAGTTAGTACAAACTGCAACACCTAGTTGATAACCTGCAAAAGCGTTTCACTTGCTCAAAATGGATAGCTCATTCCTCAAAACGCAAGTATTCATGTCAAAGTGTCAGTGTCATCAAGATGAAAAGTCCTGACACCATTGTTTATCAACCAAGATATTCATATGGCTTTGTACACTTACAGTACTTTGTCATGTTTTCATTATGACAATTTACTTTGTAATTGTTTTCCAATGCAAAAAAGTCTGATTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14044
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 |
---|---|---|---|---|---|
ENSDART00000073604 | Nonsense | 1617 | 1850 | 39 | 45 |
Genomic Location (Zv9):
Chromosome 10 (position 16306972)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 16398230 |
GRCz11 | 10 | 16356349 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATYGATGAGTGTGTGCTCAGTTTGGGGGTTTGTGGTCCAGGCACCTGCTA[C/A]AACACACTGGGAAACTACACTTGTGTCTGTCCACARGAWTACATTCAGGT
Long Flanking Sequence:
ATATTTTCTGTCAAACCAAGTATGTCTACACTTGATGTTTAGGAATTTGTACTGCACAGGATGTTAGTACCATCAATCCACTTTAAATGTTTTTTTTTTAATTAACTAAGGGTGTTTGTATGAGATTATTATGTTAAAACGAGCATTTTAATATGATTAGGCTACACAAATATGATACAAAATGTAAAACATAAAGGAATTAAGTTGACTTACCAGTTTTTACAAATTTAAGTGCATTGAACATTAACATTAAGTTGCCTCCCTGAAAATATCAAGATGTTTGTTGTTTCAGCTCATTTTAATTAAGTAGTTTGAACAAACAGCAAAATATTGAGTCCATATTAACTCTATATTAGCTTATTTTATTTTTGGATTTTGTGACACCATTGAAGTATATGGAAATGTAGAAAATTTGATTTCTTTTCTTCCTGTAATATATCTCTTTCAGATATCGATGAGTGTGTGCTCAGTTTGGGGGTTTGTGGTCCAGGCACCTGCTA[C/A]AACACACTGGGAAACTACACTTGTGTCTGTCCACAAGATTACATTCAGGTGAATGGAGGACACAGATGCATGGGTGAGTGTGTCTTCACAGAGGAACAATAGAATCACTTTATTATCAATTACTGACTTTTATTTACATTTTAAATATCTGTGCGGTTTAGTGACTACATTTTAAATGTCTGTGTGGTTTAATGACTAAATATAGATTCTTATTTACAGTGACCGTATATATGTTTTTTTTTTTTAAATGCATCTAAGTTTGTTGGATTGGTGTTGTTTTAGATATGAGGAAAAGTTTGTGCTATCGCAGCTACAATGGCAGTGCCTGTGAACATCAGCTCAACTTTAACATCACACACAGATTGTGCTGCTGTTCCTACAATGTGGGAAAAGCCTGGAACAAGCCATGCCATGCCTGCCCGATACCTGGAACTGGTAACCACACACATTTACTTACTCTAACTGTAATGAGGTAGAATTTCATCTGATGGTTTGCACAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa27582
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 |
---|---|---|---|---|---|
ENSDART00000073604 | Nonsense | 1627 | 1850 | 39 | 45 |
Genomic Location (Zv9):
Chromosome 10 (position 16306942)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 16398200 |
GRCz11 | 10 | 16356319 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTGGTCCAGGCACCTGCTACAACACACTGGGAAACTACACTTGTGTCTG[T/A]CCACAAGATTACATTCAGGTGAATGGAGGACACAGATGCATGGGTGAGTG
Long Flanking Sequence:
CTTGATGTTTAGGAATTTGTACTGCACAGGATGTTAGTACCATCAATCCACTTTAAATGTTTTTTTTTTAATTAACTAAGGGTGTTTGTATGAGATTATTATGTTAAAACGAGCATTTTAATATGATTAGGCTACACAAATATGATACAAAATGTAAAACATAAAGGAATTAAGTTGACTTACCAGTTTTTACAAATTTAAGTGCATTGAACATTAACATTAAGTTGCCTCCCTGAAAATATCAAGATGTTTGTTGTTTCAGCTCATTTTAATTAAGTAGTTTGAACAAACAGCAAAATATTGAGTCCATATTAACTCTATATTAGCTTATTTTATTTTTGGATTTTGTGACACCATTGAAGTATATGGAAATGTAGAAAATTTGATTTCTTTTCTTCCTGTAATATATCTCTTTCAGATATCGATGAGTGTGTGCTCAGTTTGGGGGTTTGTGGTCCAGGCACCTGCTACAACACACTGGGAAACTACACTTGTGTCTG[T/A]CCACAAGATTACATTCAGGTGAATGGAGGACACAGATGCATGGGTGAGTGTGTCTTCACAGAGGAACAATAGAATCACTTTATTATCAATTACTGACTTTTATTTACATTTTAAATATCTGTGCGGTTTAGTGACTACATTTTAAATGTCTGTGTGGTTTAATGACTAAATATAGATTCTTATTTACAGTGACCGTATATATGTTTTTTTTTTTTAAATGCATCTAAGTTTGTTGGATTGGTGTTGTTTTAGATATGAGGAAAAGTTTGTGCTATCGCAGCTACAATGGCAGTGCCTGTGAACATCAGCTCAACTTTAACATCACACACAGATTGTGCTGCTGTTCCTACAATGTGGGAAAAGCCTGGAACAAGCCATGCCATGCCTGCCCGATACCTGGAACTGGTAACCACACACATTTACTTACTCTAACTGTAATGAGGTAGAATTTCATCTGATGGTTTGCACAAAAACTTTTAATTGTTAAAATAACATCGAGG
Associated Phenotype:
Not determined