ZMP
NBEAL1
Ensembl ID:
Description:
neurobeachin-like 1 [Source:HGNC Symbol;Acc:20681]
Human Orthologue:
NBEAL1
Human Description:
neurobeachin-like 1 [Source:HGNC Symbol;Acc:20681]
Mouse Orthologue:
Nbeal1
Mouse Description:
neurobeachin like 1 Gene [Source:MGI Symbol;Acc:MGI:2444343]
Alleles
There are 12 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa38536 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa40626 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa26667 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa45241 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa16584 | Nonsense | Available for shipment | Available now |
sa40627 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa25327 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa18594 | Nonsense | Available for shipment | Available now |
sa16324 | Nonsense | Available for shipment | Available now |
sa26669 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa38536
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 |
---|---|---|---|---|---|
ENSDART00000006221 | Nonsense | 160 | 2723 | 5 | 53 |
Genomic Location (Zv9):
Chromosome 6 (position 4155504)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 4124048 |
GRCz11 | 6 | 4284634 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAAGCAGAAGAGTTTGTCCGTCACGCTCTGGCCTTCTGCGAGAGTCTGTA[T/A]GATCCCTACCACAACTGGAGGCATCGCATTCATGGGTGAGAAAAGCACCG
Long Flanking Sequence:
TCATTTTCTTGTCTTCCTTTTTTCTTTATTTAATTTCTCTTTAAATGTTTTTGTTTTCTTGTCCTTTTTGTTTTCTCCTTATTTTCCTTTTTTATTAATTATATTTTTACTCCTTTATTTTCCTATTTGCACTCCTCTTCCACTTTGTTTTACCATCGTTTCCCTTCTTCTTCTTTTACTTTTTTTTCTTTCCTTTCTTTTTTTTGTTCCTCTCTGTTTCAGGTTTTTCTCTTTCTATTTTCCATTTCCTCTACCTATTTCTTTTCCTTTCTTGTTTTAATTTCTTTTTTTACACCTTTCCCTTTAATTTTCTTCTTATTTCTTCCTCTTTTCCCTTCATTCTTCAGTGTTCTTTTCCTTTTCTTCAGTCATGATGTAGATCCACAACTCGTTTTCCCCTCTCTTTAGCTGAAGAGTAAGACAAAAGAGAAGGAGCTGGCCGATCAGACACAAGCAGAAGAGTTTGTCCGTCACGCTCTGGCCTTCTGCGAGAGTCTGTA[T/A]GATCCCTACCACAACTGGAGGCATCGCATTCATGGGTGAGAAAAGCACCGACAATTAATCCCACAGCTCCGCTTTTCACAAATATCTCCAGAAGTCCTCTTTGACAGAATAAGCTAATAAGCTGAACATCTAATGCATATAGCGCACTCTTATGGAAGCACTTCAGCAGGTCGTCCTCTGATTGGTAACACCACACAGAAACGCCAACTGACCCAGCTGGGACTTGAACCAGCGACCTTCTTGCTGTGAGGTGACAGTGCTAACCACTGAGCCACTGTGTTGCCTCCGGAAGCACTGTTAATCTCTTTGTTAAAGCATGTGCTAATCCAGAAGTTTCCTCATGCATGCCGAATTGAACATTCTTAGGCTGCTAATCTAGAATAAACTGCTGTTGTTTGTGGAGCTTGTTGAATTTGGAAATCAAAATCATTTACTGAGGAGTGAATCATTGACTTTTTTTTAACAAGTAATACATGGTTCTGCTGTAAATGATTTGTCAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa40626
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 |
---|---|---|---|---|---|
ENSDART00000006221 | Nonsense | 586 | 2723 | 13 | 53 |
Genomic Location (Zv9):
Chromosome 6 (position 4173709)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 4143115 |
GRCz11 | 6 | 4303212 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTCTTCTGAGGCTCCTGCGTCAGGACGAGCCGGGCCGCGCTCACCCGTA[T/A]GTGGGACCGGTGCTGTGTTCACTGCTGGGGATGGTGCGCAAACAGGGTTT
Long Flanking Sequence:
ATGAAATTGCTGGTTTCCACGTGGTATTAGCAGACTTTTATAACTCTGATAACATGTCAGCCACAGTATGCAATAGCATTTTTGTCATTCTCAGTGGACATCTCACCATCAGACTTTCTCTCTCTTCATCCTCATGTTCATCAGGCTGTTGAAGGAGAGCATTCGTCTGTCGGCCTGCTGGGCATCAGTAACGTGGATCCTCTGCTGCTCCTGATCCAGTGGCTCCCAGAGCTGGACTCTGCCGAGCTGCAGATCTTCACCGCCGACTGGCTCCGGCGTATCTGCGGTCTGAACCGGCGCACGCGAGCCACCTGCGTCAACTCCTGCATGACTGCTGTGGTGCTGTCGGCTCTGGAGAGACACCAGCGGCTGCACCGGGCCTGTGCCGAGAGTCTGGTGGCTCTGCTGGGCTCTCTGGGCAGTCAGTCGCTCAGTTCCTCCGAGCTCCAGCTTCTTCTGAGGCTCCTGCGTCAGGACGAGCCGGGCCGCGCTCACCCGTA[T/A]GTGGGACCGGTGCTGTGTTCACTGCTGGGGATGGTGCGCAAACAGGGTTTGGAAAGTGCCATGCAGTATTTTGATCTGTCACCACCCATGGCTGGCATCGCGGTGCCTACTATCCTCCGCTGGCCAGGCTCCGCCTTCAGCTTTTTTGCTTGGCTGTCATTGGACCAAGATCAGCTGGGCCCGCCCAGCAAAGGAGAAAAGAGGAAGCAGCTGTATAGGTGAGGGTGGAAATCAGCGTTTTAATCTGTATATTCCATGTGTGTATATAAGCTAATGCTAATAAAATACTTGGGTAGTTACTAGGGTAATACTAAGGTAAAGATGCAGTTTTTAAAAACGCTTTATTAGTTTGATAATAATTAAAAAAACATCAAACAGTTGAAAACAGTTGTGCTGCATCATATTTTGTAGAACCTGACCAGTTTTTTTATGAAAGTATAGCAGTATTTATTTAGTTATTTGATTTTTTAATTATAAAAAAAAGCTATTAAATAATTATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa26667
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 |
---|---|---|---|---|---|
ENSDART00000006221 | Nonsense | 830 | 2723 | 16 | 53 |
Genomic Location (Zv9):
Chromosome 6 (position 4178468)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 4147633 |
GRCz11 | 6 | 4307730 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCAGTCCCACATCACTGCAGGGCCAGCTGGGCAGTGTTATGGTCTTCCAC[G/T]AGCCGCTGCAGGCCACTCATGTCAAAGCCCTCTGTAGCGCAGGACCAAAC
Long Flanking Sequence:
TGATACTAATGCACACTGTGCGTCTGAAATGGCATACTTCCCTATTATGTAGTATGTAAAAGCAGTTTGTGAGCTGGATTTTACTATCTTTAACATGCAGTGAGTTTGCAGGCTTTAACATACTGCTGTATGAAGTAGGGAAGTATGACAGATCACTTGACAATTGCATATTAATGTAGGGTGAAATATTGCATCAATCACGTTTCTTTCAGTGTTGATGTGTAGATGTTTCCATCTCTCAGGCCTTTACGTCATGCTGTATCGGTTCAGCGGGTCACCGCACCACCACCCCTCCTCCATCTCAGATCCCCGATCCTCCGTTTTCCGGAGCTCATCCATCCGGACGCTCATCCTTCGGCGCCATTCTCCCGGGATGGGGTGGACTGCTGGGCACCAAACCCGAGTCTGTCACCAAACTGATCTCTGCCGGGACGCAGGACAGCGAGTGGGGCAGTCCCACATCACTGCAGGGCCAGCTGGGCAGTGTTATGGTCTTCCAC[G/T]AGCCGCTGCAGGCCACTCATGTCAAAGCCCTCTGTAGCGCAGGACCAAACTGCATCTCGGCCTTCAGGAGTCAGGAGGCGGAGCTGGGAGAGCTGGCACCCAAACTCCTGCTGCACTACTCTCCAAAGGTGATCAGTTTAGCAATAGTGAGCATAAGAAACTTCTTTCAAAAACAGCTGACCACAAAGCTTTGAACTGCAGTGTATATACATGTAAAAATAAAGGGACGGAAATATAAAAATAATAGTTTTATTAACTCTTTCTAATAGCTGGTTTATTTTATCTTTGCCATGATGACAGGACATAATATTTCACGAAATATTTTTCAAGACACTAATATTCATCTTAAAGGTATATTAAGTGTGTTTACACTAGCACGTTTGGTCCGCACCCTGGTTCGTTTGACATCAGAGCACGGTACATTTAGCTAGTCTGAACGTTGTCTTCTGATCTCGGGTGCTTCTGATTTATTTGACCATAGCCTTGCTCTTTTTATTCAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa45241
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 |
---|---|---|---|---|---|
ENSDART00000006221 | Nonsense | 879 | 2723 | 17 | 53 |
Genomic Location (Zv9):
Chromosome 6 (position 4180222)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 4151275 |
GRCz11 | 6 | 4311372 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGACTCATCACTGTGCTCTTTAATTCTCAGGCGTGCAGGAACCCCATTTG[T/A]CTGGATTTGTCCCCTAATTTGCTGCACGGTCGCCTGACGGGAAATAAAGT
Long Flanking Sequence:
CTTAACATGTAAATCACTAGCGCTTGACGCGCGTTCCGCATCTGGTGTGAACGCAGCATAACAGCGCCATTGTGCTCCAGTGGTCAGCATGTTGCGTTACGACGTTGTCGATCCATGTTCGATCCTCACCCGAGCAATTCTTTTCTTTTTTTTTTTTCTTTTTATTGTTAAGGCATATAAAACTGTAAGGTTGTTGAACATTTGAATTTCTAAAGGGGGCTAATAATATTGTTTAAATGGTTTTAAAAACAATTCAAATCTGCTTTTATTCTAGCCCAAATAAAACAAATAAGGCCTTTATCCAGAAGAAAAAAATACTATAGAAAATACTCTGAAACCTTCCTTGCTTTGTTAAACATCATTTAAGAAATATTTGAATGGAATTGACAGGAGAGTTAATAATTTAGATGTCAACTCTATATTAGTTACATGTTGGGCGGTTTTAACATTTGACTCATCACTGTGCTCTTTAATTCTCAGGCGTGCAGGAACCCCATTTG[T/A]CTGGATTTGTCCCCTAATTTGCTGCACGGTCGCCTGACGGGAAATAAAGTGGTCAACTGGGATATTAAAGTATGTGTGCTGTTTCCCTGATTTATTTATGATGTCTTTATCTGTCAGATGGTCCAACAGCTGCTCTCAGCGTCTCTCTCTCTCTCTCTGCAGGACATGATTAACTGTGTTGGAGGGATCCCTGTGCTTCTTCCAGTCCTGGAGCAGTTGACCTTATTAAACCCAGATTCAAATCCTGTGGAGCCGTCAGGGTCGGAGTTCATCAGCCCTGACTCCGCAACACCCGCTGATGGAGACTGGGTCATACTGCCCTCCAACAGGGCCTCAGGTGGGCACTGTCACACAAGACAATCCGTGGTTACTGCCATTATTAATAATAAAATTAACTTTTTTTATATATGATTTAAGATTTTATCATATTATAAGGCATTTAAGTTTTGTTATATTTTGATAATGTTGATGCATTGTTTTTATTTGGGGCATTGCTGAAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16584
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 |
---|---|---|---|---|---|
ENSDART00000006221 | Nonsense | 1114 | 2723 | 22 | 53 |
Genomic Location (Zv9):
Chromosome 6 (position 4183349)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 4154502 |
GRCz11 | 6 | 4314599 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GATGCAGATCTGAGTGAGGACGACATCAAGACAATYAGAGCTTCMCTTTA[C/A]GGCCTCCTCAAGTATTACATCAGCAAGGGAACCACTCAAGAGGAGATCCA
Long Flanking Sequence:
TTTAATTTTATTTTATTTTATAAATTATTTATTTATTTAATTTAATTATTATTTAGGTTTAATTTAATTTATTTAAATTTGTTTAGATTTATTTTATTTTTATTTGTTTTATTTAATTATTAATAAATTTTAATTTGATTTAATTTATTTACATTTATTTTATGTTGTTGTTGTTTTTTTGCTGTGAGTTTGAGGATTTGGTTTGCAGTTTGAATGTTTGTGATGTGATTTTTTTTGTTTGTCGTACTGAAGGCCACATCCAGTACACCTCCACCGTCATCAAAGACAGCAGGAAGCAGTTCAGGAAGAAATACGGAGTGCAGTTCCTCCTGGACACAATTCGCCTGTACTATGGGTAAGACTACATCTCCTATAATCCCTCTCTGTGTTCTCTCTTCTACCTATTTCTCTTAACACCTCGTCTCTCTTCATTCCAGTTCAGGAAGTAAAGATGCAGATCTGAGTGAGGACGACATCAAGACAATCAGAGCTTCCCTTTA[C/A]GGCCTCCTCAAGTATTACATCAGCAAGGGAACCACTCAAGAGGAGATCCAGAGCATTCTGGGATACATTGCTGCTATTGGAGATGAAGAACAGGTGAGGTCCAAACTGAACAATCTTGCTTATCTCAAACTTTTGAACAGTCAAATCAAATAGAGTCCATCTGTTAAAATAGAGTTAATACGTTTTCTGCGTCGCACAAAGACACAGTGGTTGGAATCAAAGATCTCAAAATTGGACTCATCAGACCAAATCGCAGTTTTCCATTGGTCTAATGTCCATTCCTTGTGCTCTTAAGCCCAAACAAGTCTCTTCTGCTTGTTGCCTGTCCTTAGCAGTGGATTCCTAGCAAAAACCCTACCATGAAGGCCTGATTCACACAGTCTCCTCTTAACAGTTGTTCTGGAGATGTGTCTGCTGCTTGAACTCTGTGTGGCATTGACCTGAGCTGCTGTTAACCTGTGATTTCTGAGGCTGGTGACTCGGATGAACTTATCCTCCGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa40627
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 |
---|---|---|---|---|---|
ENSDART00000006221 | Essential Splice Site | 1145 | 2723 | 22 | 53 |
Genomic Location (Zv9):
Chromosome 6 (position 4183444)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 4154597 |
GRCz11 | 6 | 4314694 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GATCCAGAGCATTCTGGGATACATTGCTGCTATTGGAGATGAAGAACAGG[T/G]GAGGTCCAAACTGAACAATCTTGCTTATCTCAAACTTTTGAACAGTCAAA
Long Flanking Sequence:
ATTTTTATTTGTTTTATTTAATTATTAATAAATTTTAATTTGATTTAATTTATTTACATTTATTTTATGTTGTTGTTGTTTTTTTGCTGTGAGTTTGAGGATTTGGTTTGCAGTTTGAATGTTTGTGATGTGATTTTTTTTGTTTGTCGTACTGAAGGCCACATCCAGTACACCTCCACCGTCATCAAAGACAGCAGGAAGCAGTTCAGGAAGAAATACGGAGTGCAGTTCCTCCTGGACACAATTCGCCTGTACTATGGGTAAGACTACATCTCCTATAATCCCTCTCTGTGTTCTCTCTTCTACCTATTTCTCTTAACACCTCGTCTCTCTTCATTCCAGTTCAGGAAGTAAAGATGCAGATCTGAGTGAGGACGACATCAAGACAATCAGAGCTTCCCTTTACGGCCTCCTCAAGTATTACATCAGCAAGGGAACCACTCAAGAGGAGATCCAGAGCATTCTGGGATACATTGCTGCTATTGGAGATGAAGAACAGG[T/G]GAGGTCCAAACTGAACAATCTTGCTTATCTCAAACTTTTGAACAGTCAAATCAAATAGAGTCCATCTGTTAAAATAGAGTTAATACGTTTTCTGCGTCGCACAAAGACACAGTGGTTGGAATCAAAGATCTCAAAATTGGACTCATCAGACCAAATCGCAGTTTTCCATTGGTCTAATGTCCATTCCTTGTGCTCTTAAGCCCAAACAAGTCTCTTCTGCTTGTTGCCTGTCCTTAGCAGTGGATTCCTAGCAAAAACCCTACCATGAAGGCCTGATTCACACAGTCTCCTCTTAACAGTTGTTCTGGAGATGTGTCTGCTGCTTGAACTCTGTGTGGCATTGACCTGAGCTGCTGTTAACCTGTGATTTCTGAGGCTGGTGACTCGGATGAACTTATCCTCCGCAGCAGAGGTGACTCTTGGTCTTCCTTTTCTAGAGCAGTCCGCATGTTAACCAGTTTCTTTGTAGCGCTTGGTTTTTTTGTGACTGCACTTGGGGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa25327
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 |
---|---|---|---|---|---|
ENSDART00000006221 | Essential Splice Site | 1252 | 2723 | 24 | 53 |
Genomic Location (Zv9):
Chromosome 6 (position 4191209)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 4159405 |
GRCz11 | 6 | 4319502 |
KASP Assay ID:
554-7780.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCACCTCCACCCTCATCAAGTGCCTCCTTCACCAAGTGCTGTCTACTGG[T/C]CAGTCTCATTCACACTTTAACACTTTAAACCACCCATGTTAGCAATCCCT
Long Flanking Sequence:
TTATAGCACAATGGTGTTCAATGCTGAATACACAAGTGAAGATGCACCTGGCATTGCCTTGATTTTATATTTTTGCATTCTTTAACATTGATTGGACAGATTTCATTTCAGTTGCTTTTTTTGTAGCTCAAAAATTAAACAAAATGTTACGTTAAAATTAGAAATGTTCATCACTGTTGAAGGCATTTGCCCCAACCTTTCCATCATTCTCCCTCTCTTCTCAGATGGGACGGTGGCCCAACTTAAAGGTTGCCATAGGCCAACTTCGGCCTGCTGGCTCTAGTTTGGCCATCTCTGCATTAGGGTGAATCTAGTCCCTCTGTCTTTCTGTCTGTGCAGTTATTTGAGCGGATGCTGAAGTGTGATCGTGTGTACGAGAAGAGCAAGCAGCGGCTGCGATTGAGGGATGTGGGATATTCAGGCCTCAGTCTGCTGTTCTCCGACCTGCACCTCACCTCCACCCTCATCAAGTGCCTCCTTCACCAAGTGCTGTCTACTGG[T/C]CAGTCTCATTCACACTTTAACACTTTAAACCACCCATGTTAGCAATCCCTCTTTTTCGCACAAACCTTTACTAGTACTGATCGATATTGATGTTCATTTTAAGAATTTTGATAACTTTTGAAAGCAGTTTTATGTTTGGCATATACAAATATCATCAAGCGCATACTGCTTTTGCAGAGAACACTGTTTGGTGATAGAGTCACAGTGAATTTGTGAAGTGTTTTTCTCTTTGTCTTGCAGATACTGTGGTGAACTATAAAGATCTGATGGCTGTGGTTCAGCTCACACATAAAGCCGGGCCCAGTGTTCGCCTGACTGTATGCAAGAGGGTAAAAGCATCTTCATTATCATTATCATGTGCACATCACAGCTATTAGTAAAATCAATTAATAAACAAAAGGGTTCTCAGCGTTATTGCAAAAACAAGTCCTGCAAAAAAAAAAGGCAAAATTCTAAGCAAATTTCCAGTTTCCAAGTTCCATGGAATGAACACACACACA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa18594
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 |
---|---|---|---|---|---|
ENSDART00000006221 | Nonsense | 1437 | 2723 | 26 | 53 |
Genomic Location (Zv9):
Chromosome 6 (position 4194628)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 4162746 |
GRCz11 | 6 | 4322843 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCAGTATGCAGAGCACGCCATMGCCTCTGGAGAACGCCAAACCRTTCCCT[G/T]GAGCTTCCTCTCTCAACGATGACAACTTCCTGTTCAGTGACAACGTGTCC
Long Flanking Sequence:
TATAATTAAATCCTGCATGTTTTATTATTGCGCAGCTGTACACACTGCTTCAGTCTCAGCCGGACGCAGTGCTGCAGATCTCCAAGCAGGTGTGTTGGCAGGGAACTCTGATGCGGCTGTTTGTCCGGAGCCCCGGGAGTGACGGAGGTTCAGGTCGTGGTGACGCTGCCAGTCTGGGGAGTTTGGAACTGAGCCGCAGCAGCGGAGGAAACCGCCTGGAGCCGCCTCTGGAGCGCAGGCCTCTGGGAGACAGCGTAAACCGGCTGAACGAAGAGCGGGACAGTGTTTCAGACAGCAGGTCTATAGACAGCCTGGATAACGGAGAGCTCATGTCTCTGTCTGACACGCCGGTGGAAGCACACACACCTAAAACCTGGCCAGGGAAAGCAGGAGTGCTGAGTCTGGATCTGTCCCAGCTGGATCGCGGGGATAGCGGCAGTCAGACTCCTGGCAGTATGCAGAGCACGCCATCGCCTCTGGAGAACGCCAAACCGTTCCCT[G/T]GAGCTTCCTCTCTCAACGATGACAACTTCCTGTTCAGTGACAACGTGTCCCTGGGGGAGTCGTTTAACAGCGAGGTGAGTCTGGAGAACTGGTTGTGATGCGTCACTTAATACAATTACTGTTTTGTAGGATTTTACACCATTTAACTCAAAGTAACTAATAATGGAGTAGTGAATTTCTATAGTTGTAAAGAAAATTATTAGCCCTCTGAGTTTTAATTATTTATCAAATCTTTCCCAAGTGCTTATTAACAGAGATCCATTTTAATCCAAAACACTTTAAAAGCTAGTGCTGTCAAAAGAATACTCACAATTAATCAAATCCAAAAGAAAAGCTTGTATTTATTAAAATAAATAAATTAATTATATACAGTTTATATAATATAACATAATCGTAAGAGCAACAAATAATACTCCTAGTTGATCATTTGGAAAGTGGCAGAAGGTGGATTTTTCTGATGAATCATCTGTTGATCTTCATTCCAATCATCACAAATACGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16324
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 |
---|---|---|---|---|---|
ENSDART00000006221 | Nonsense | 2237 | 2723 | 42 | 53 |
Genomic Location (Zv9):
Chromosome 6 (position 4222282)
KASP Assay ID:
2259-7066.1 (used for ordering genotyping assays)
KASP Sequence:
GTGTGTGTGTGTGTGCGTGTGCGTGTGCGTGTGTGTGTGTGTTTAGGAAT[C/A]AGAGTTYGTGTCRGCTCATCTGCATGAGTGGATCGATCTGAKCTTCGGTT
Long Flanking Sequence:
ACTGCAGTTAACCATACAGGGAGCAGATGGCACTCTAGGCTAGTTTTTAAACAGCCAATGGTGCTCTAGGTGAGTTTATACCAGCAGCGAGCACTCTACACTAGCTTTTACTGCAAATGACGCTGTAGCCTAGTTTTTAACTGTACGCTTCTATAGTTAATAGCATTTGTGTGTTTGGCTGACTCATGTAAGTTGGCTTTTATGTCACGTGATTAATGTAAACGCAGCTCACTGTTAATAATTTTGTAATTCACGTAAACCTTTCCCAACTTCCTTAATGATTATTTTATGTTCAAGTGTATTTGTAAGGGGTTGTATGCAAGCGGTGTACGGCTGTTTGTAAAGTAAAGCCTACTGCACAATCTGATATCCTGGATGTGTCTAATGTGTGCGTGTGTGTGCGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGCGTGTGCGTGTGTGTGTGTGTTTAGGAAT[C/A]AGAGTTTGTGTCGGCTCATCTGCATGAGTGGATCGATCTGATCTTCGGTTATAAACAGCGGGGCCCGGCGGCAGTGGAGGCCCTTAATGTCTTCTACTACTGCACATATGAAGGTATAAGAAGTCTGTCACAGTCATAAACATACAGGTCTTAGGAAATTGCTTGGTTTTGGTGACACATTTGTTTTACAGTGTTTCTTTAAGTTGTAATAACTAATTTATTTTATTCTAGCCATGATGACTGTACATAATATTCTTATAGTCTTCATCTATAAATGAGAGCGTCTGTGGTTGTTTTAGGGGCTGTTGATCTGGATGCCATCACAGATGAGAAGGAGAGGAAAGCTGTAGAAGGCATGATCAGTAACTTCGGACAGACGCCGTGCCAATTACTGAAGGTACCACACTCTCATCTATCTCCAACATAAACATCTACAGTACACTTTAATTTAATAAAAAAAAAGAGTTCATATATATATATATATTTACATACAATCCTCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa26669
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 |
---|---|---|---|---|---|
ENSDART00000006221 | Essential Splice Site | 2690 | 2723 | 52 | 53 |
Genomic Location (Zv9):
Chromosome 6 (position 4233037)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 4200042 |
GRCz11 | 6 | 4360139 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTGGAGGACGGCAAGCTGATCGTGGTGGGCGTCGGGAAACCAGCGGAGG[T/C]AAAAAACTCCTTCAGGAACTACATCACCCAGCGGATGGAGGGCTCGCCTC
Long Flanking Sequence:
GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCAGGATAAGAACGCTCTGCACCTGTACTCTGTGAACGGAAAGCACCTATGCAGCTCTTCTCTGAAGGAGCAGGTGACGGACATGTGTGTTTCAGGAGAGCATGTGGTCATCGGCAGCGAGCAGGGCTTTCTCTCCGTCAGAGATCTCTACAGGTAATCTCACACAACACACTAAAATCAGCAGATTCATTCCCTGAAGCCAGATGGATATGTGCTGTTAATACAAAGATTGTCTGACAAATAACATTGAGGGAGGTGTGTTCTCTCCTCATGTCAGCCTGAGTCTGTGTGTGTCACCGATGGCCATGCGGGTGCCCATTCGCTGCGTCTCTGTGACCAAGGAGCAGTCTCACGTGCTTGTGGGACTGGAGGACGGCAAGCTGATCGTGGTGGGCGTCGGGAAACCAGCGGAGG[T/C]AAAAAACTCCTTCAGGAACTACATCACCCAGCGGATGGAGGGCTCGCCTCTTATGAACACGCTGCGGGTGCGATCGCCCGCACGCCTGCTACATCTCCGAGACCAGAACACATTCAGCCCTGACTTCATCTGACACAAACACACACACACACTTATCTGATTTAAGCTAAGGTTAATTTACCTAAATGGGCACTACTTATTTGAACTTAAAAAAATAACTCCCGTTAACCAAATAAGTAAAGAACAAATGCATATTTAGATTAAAAGAACTTCTATTTTGCTTATTTATTTTTTTGAAGACCATACATTCAGATTAAATCAGATTTAGCTAAACACACACACACACACACACACACACACACACAAACATGTTAACGTAATAACAAAATAATTATGAAAACGATTTTTCTTTTTAAACTTGGGCATTCGTTGTATAATCAGTGGTAATTGTGTGACGTCTAAATGTTGTTTACTATACTATGTTTGCTGTTTTTTTTTAA
Associated Phenotype:
Not determined