ZMP
LOC565885
Ensembl ID:
Human Orthologue:
NBEA
Human Description:
neurobeachin [Source:HGNC Symbol;Acc:7648]
Mouse Orthologue:
Nbea
Mouse Description:
neurobeachin Gene [Source:MGI Symbol;Acc:MGI:1347075]
Alleles
There are 10 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa22688 | Nonsense | Available for shipment | Available now |
sa14121 | Nonsense | Available for shipment | Available now |
sa35947 | Splice Site, Nonsense | Mutation detected in F1 DNA | Not yet available |
sa42587 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa12695 | Nonsense | Available for shipment | Available now |
sa42588 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa35948 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa22688
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 |
---|---|---|---|---|---|
ENSDART00000041157 | Nonsense | 180 | 2883 | 3 | 56 |
Genomic Location (Zv9):
Chromosome 15 (position 32554127)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 33462420 |
GRCz11 | 15 | 33320399 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TATTTTTTTCCAGACTTGCTGGTGGATATGCTTGGAGTTCTGGCCAGCTA[C/A]AGTATCACCGTCAAAGAACTCAAACTGCTCTTCAGCATGCTGAGAGGAGA
Long Flanking Sequence:
TATATATATATATATATATATATATATATTTTTTTTTTTTTTTAATATATCTGTTTTGTTAAAATGCACCAAAATATGTTGCCTATATTCATAAAATATACATTTTAAAAATGTGGTGTACTAATTTATGCTGAGCACTGTATTTTATTTAATGTTTTTGAAGTGTGTCATTTCTACATGTTTGCTTAACTAGAATATATTAAGCAATGAAGGTTTCCTAAGAGCTTGCCGGCTTATGGCACCACACTGAGGGAAGGAGTGCTCTGTAGGTTTGTTTGCTATGTTTTGATCCTTCCACTCGTGAAATTGCTATTTTGCACTGTATTATGACACAATGTCTCATGTAGGTTGCACACCTGCGCCCCGGGGAATCCTTCTGTTTACATGCACACAGTGCCCACTTCAGTAATCTTGAACTAATGCAACTCATCGTCTGTCTGCTTATTATTATATTTTTTTCCAGACTTGCTGGTGGATATGCTTGGAGTTCTGGCCAGCTA[C/A]AGTATCACCGTCAAAGAACTCAAACTGCTCTTCAGCATGCTGAGAGGAGAAGGAGGATTGTGGGTAAGCCACTGAAAATGAGTGAAAATGTCGGGCTCTGGGGCTCCAAGGGGTTGTTAGCTTCACCGCTTTTGGAGATCGTTGAGCCTGTTTAGACCTCTGGAGCAATCAAGCGCTGAGCAGATCAGGCCTGCCCAGGTATCGATTCACTGTTCTCTCGAGTGAGGAGTATTGACAGAACATTGACTGCTGGCGTACGCCACTGTGAGGATGTTGTCACAATAGCTTTATGTTTTTGGATAGAGTCAAGTACCCTCTGGAGACAAAAATGACAGGCTTGAGCAAGGACTTTAATATGACAATTAGATAGGAGGCACGAAAATGAACATTTTGATCAGCATGTGTTTCATTGGCTTGCCAAAACAGGTGAGAATATGACTCACAGTGCTTGAATCTAAACAGATTTAGTGAGGCAATATGATAAATATATTGTATAATTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14121
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 |
---|---|---|---|---|---|
ENSDART00000041157 | Nonsense | 399 | 2883 | 8 | 56 |
Genomic Location (Zv9):
Chromosome 15 (position 32570534)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 33446013 |
GRCz11 | 15 | 33303992 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TSTATGTGTTCAGTGAARCTCTAAACCCAGCTCAGATATTTGCCATCCAT[C/T]AAYTGGGCCCAGGATACAAGGTATGTATCAGATTCGCCAAAGTGTGCTAC
Long Flanking Sequence:
CAGAATTGTCCTGGTTTAATTTAGAAGTTTTAAAGTCTTCCTCTCCGTCATTGGCTGACTTTGACAAACATGTACAGCAAAGCTTATATTCCGCTACTGGTCATTTCTGATAGTTTGGCTCTGTGAGATTCACTTGTTTTGGTGTTTCTGGAGTGTGAGAATAGCATGTAAAAGCTCCGCCTTATTCTGCAAACTCATTTGCATTTAAAGGGACATGCACAACAAATGTATTTTTGCCCACACCCAAACAAGAGCACATTTGACAAGCTGTAATAAATGATCTATGGAGATTTTTGAGCTTAAGCTTCAAAGCTACTTTTTTTAGAGATGGTTTTAAAGAACTCTAAGCTTTTTTCTTCATGTGCTTATCACAGAGTTATGACAAATGTTTCCTTGGCTCATCTGAGACGGCAGATGCCAACCGGGTGTTTTGTGGACAGCTCGGAGCCATCTATGTGTTCAGTGAAGCTCTAAACCCAGCTCAGATATTTGCCATCCAT[C/T]AACTGGGCCCAGGATACAAGGTATGTATCAGATTCGCCAAAGTGTGCTACACACCAGTGCTTCACAGCCATCACTGATCTCAGAGAAATGTTATTCATCGGTCAGTGACATTTGGTTATTAAATAATGTACATTCCAACATTTTATCCATTCCAACATTAATGGATGAATGAATGAATGAATGAATGAACACATTAATGAATGAACAAATGATATATTGCATTATATATTTATCTTTTTTTGTGTAGACATGTTTTCAGACATGCATGCATTTCAGCCTACACATGCAAGCACAAATAATTAATATGCGTTTCAATATATTAAAATATATATATTTATCCACATTCTCAAGTTTTCCATGTTATTTTTAGAAGAAAAAAAAACATGTGGGGTGGCATGCAATCCATGTTTATAGCATATTATTATACATATACATACATAACATATTATTTAGTTTTAACAAAATAATTTCCCTCAAACATTTTTGTAATTGTAGAAATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa35947
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:
Splice Site, Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000041157 | Splice Site, Nonsense | 517 | 2883 | 11 | 56 |
Genomic Location (Zv9):
Chromosome 15 (position 32593088)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 33423459 |
GRCz11 | 15 | 33281438 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTTACCCTGTAAAGCTGTGAAAATTTATTTTATTTTTTTCTGTGCAGTT[C/A]AACTCTCCTCGCCTTCCTGATGGAGCTACTCAAGAGCTCGGTGGCAATGC
Long Flanking Sequence:
AATTGTTAATCTTTGCTTTTTCTTAAATATTACAATTATTACATTATTTGAATACAATTGTATGTAGTTTATTTTATATATAAAAAAAACATGACAAAAGTCTCGACAAGAAATGTTTTAGTCTTGCTTTAACCTATTTAATTGATTAATCAGGTTTCAGATTTTTTTTAATTATAATCAGTTAAACTCAATATGTAGATGACTAGAAAAACTAATTTGATTCAATTAATGTAACACTATTCATTTTACAGTAAACAATATAATGTACTGAATGAACAAACATGTGTTTCTCTTATTTATTTATTTAATTTAAAATGTCAGCATTATGTGATTTTTGGATGATTGTAATAAATATCTAATATCAGATGATCATACCTAAATATCAAGTGATCAAGATGTACATACTGGTTACATTTGGTTGCAAGCCTTTCGTCATCAATCTCAAGCAGCAGTTACCCTGTAAAGCTGTGAAAATTTATTTTATTTTTTTCTGTGCAGTT[C/A]AACTCTCCTCGCCTTCCTGATGGAGCTACTCAAGAGCTCGGTGGCAATGCAAGAGCAAATGCTTGGTGGGAAAGGTTTCCTGGTGATTGGGTACCTCTTGGAAAAGGTGCTGTCATTTTCCAACTTACAATTCAGACTGGTTAAGGCTGAAGTGTGCAATTTTTGTGCTGTTAGCAGCACCAAAGCCATCGCAAAAATAACAGTTATCACATATAAGTTATGTTTTCCCAAACCACTGTTTCAAAAGACAAAATGTTCCACAGCTAAAAGCTTTTATCGGGTTATTGCTATTATGTTGGGACACTTAAATATATCGAATTGAATCTGAAGCAGCACATTGTTTACATTCCATAGGGCAATCAACACAAACTCAAAAACATTACGTTTGTTGTTTGTTCAAACTTTTTATTTAAAAGGAGCTTAAACAACACAATTCTTGAGTTTGATACAATTAAATTGTTTTATGTTCAGTCCACCTAAATTTGTAAAAAGTTAACCTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42587
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 |
---|---|---|---|---|---|
ENSDART00000041157 | Essential Splice Site | 1382 | 2883 | 24 | 56 |
Genomic Location (Zv9):
Chromosome 15 (position 32655062)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 33361485 |
GRCz11 | 15 | 33219464 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCGCCTGTGGAGGAATCCTTCCCCTGCTGTCCGCCGCCACTTCTCCTTCT[G/A]TGAGTGAGCCAGAGCTTTGACCACACTGACACACGGTGGCCATTGTAGAT
Long Flanking Sequence:
GTACTTTAAAATTTTATTATTATAATCTTAATTCAACTGATAAAAGATTTAGAAATTCAGTAAACATAGCTATACTGCTTAGTATAAATGCTTGAAAAGGAGTTAGTTCAAAATATCCATTAGGAACTTAAAAGTATTTAAAAAGAAATCAGATGTAATCAGTTACTTTACTTTTATAAGTCATTGAAAAGGTACTCTACTTATTACATTTTAAATAGGGTCATTTGTAATCTGAATCTATTACATTTCCAAAGTAACCTACTGAACACCGATTGTGGTTTACAGTAAATCTTTTCATCATTGATCACATTTATCTTTCTCCCACTTCTTTCCTTTTTCCCCTCAGTCATTCAACAAAATCCATCATGGACTTTGTCAACAGCAATGAGAATATAATCTTTGTACACAATACCATTCACCTGATCTCACAGATGGTGGATAACATCATCATCGCCTGTGGAGGAATCCTTCCCCTGCTGTCCGCCGCCACTTCTCCTTCT[G/A]TGAGTGAGCCAGAGCTTTGACCACACTGACACACGGTGGCCATTGTAGATCACTGCAAGCCGAATTAATCTAAAGCAGGGGTGCCCAAACTTTTTCTTATAGAGAGCCAAAAGCTAAACTTGATTGAGGGTGGTGGGCCAGGGGTAAATATACTAAACTGTAAAGTTGTCAATGTATATTCCTAATTTATTATTATAATCATTATATAATTTATTAATTTAGAAAAATCTAATTCATTCACAACATTTAATTGAAACATTTAATTCCGGTTAGCTTTTTTGTTGCTCAACAGTTCAAAAACAAAAGTTACATTAAATTGGAAATCACAATCTCTGTTAAAGACATTCCTTCTAAATTCTAAATTCCTCATCATTTCCCCTCTCCTCAGATGGGATAGAGGGCCAAATCAAAGATTACCATGGGCCAACTTTCGTCTGCGAGCCCTAGTTTGGGCATCCCTGATCTCAGGAAATAGTTTAACCAAAAATGAAAAAAATCTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12695
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 |
---|---|---|---|---|---|
ENSDART00000041157 | Nonsense | 1703 | 2883 | 29 | 56 |
Genomic Location (Zv9):
Chromosome 15 (position 32671669)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 33344878 |
GRCz11 | 15 | 33202857 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTCCGGTGGAGACCACAGAGAGKGGGACAGAGSCCCTGCCGTATCCCGAA[C/T]AGCAGGCCATGAAGAGGGAAGCACAGRCCATGWTGCCCATGCAGTTCCAT
Long Flanking Sequence:
GTGAATATAGAGTAACACTAATTAATATTATAAAACAATAAAAATAAATAAATGCAAAAAAAGGATAATCTACTGTTAATCTGATTTCAGTTTTGTTGAATTAATTTCCTTAATGTTTCTCAGATCACCCATCACTCCTCACTGACAGTCGTAAGGAAGCTCTCGGTGTGCTGGAATCCCGTCAGGAGTCGTCCCTCCCTCACTCTGACTCCGGCCTGGGAGATGACCAGGTGTCCAGTGTGATGAACGGGGCTGACCTTGATCTTGCCATGGGTGGCCCGAACGGCATGAGCGGCCTGTTCTGCACCCTTTCATCAGTGGCCCGATCTCAGGAGAGCTTGATCGAACCGTCCTCTGTGGAGCACCTCAAAACCGCCTCGTCCATCTCCAGCATCAACCAGGCTAATAAAGGCATCAATGTGAAGGAGATCCTCAAGAGCCTGGTGGCGGCTCCGGTGGAGACCACAGAGAGTGGGACAGAGGCCCTGCCGTATCCCGAA[C/T]AGCAGGCCATGAAGAGGGAAGCACAGGCCATGATGCCCATGCAGTTCCATTCATTTGACAGGTACTGTACACTCATAGCCACAGTACAGTTGTTTTGAGATGTGTATTGACATTCTTTTTCAATTATGAGCAGGCACAGCCATTCACTTCCATTGATTTTTAGACATTTGTTACGCTGCGTAATGTTGCAAGCTGATATTTTACTATTATATTATTCTACTGTTTATGTATGATGTTTTTATTCAACATTTTTGTTTGTAGAGCAAGCAGTTTGGCCGTTTTCTGCTGTTTATTTCTTCCCAGTCATTTCTCCCATTGGCAACTCAATCGGAAGTTCTAAAACAATCAAAATAACCGTGTAAAAACGAACGCACATCTCAGAAAGGTCAATAGTGCACATCCTATAGATGTTTATATGTGAATTGTCAGTATTTAGTATAGGTAAAGCTCAGTAAATTGCCCTTCAGGTTGATACAAGCAATATTTTAATAACAAACTGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42588
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 |
---|---|---|---|---|---|
ENSDART00000041157 | Nonsense | 1892 | 2883 | 34 | 56 |
Genomic Location (Zv9):
Chromosome 15 (position 32731621)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 33284926 |
GRCz11 | 15 | 33142905 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCAGGAGTGGCAGAACTCGATTCAGAAGAACGCTGGCCTGGCTTTCATT[G/T]AGCTGATCAACGAGGGAAGGTAAAGTCACACGTCTTCTCCTAAACCACTA
Long Flanking Sequence:
TGGACTGTGGGAAAAACCGGAGCACCCAGAGGAAAACACAGGGAGACATGCAAACTCCACACAGAAATGCCAACTGACGCAGTTAGAACTCGAACCAGCGACCTTCTTGCTGTGAGGTGACAGTGCTAACCACTGAGCCACCGTGTCGCCCCTTTTAAATGTATATATAGTATTTATTTACAGGCATTTTTAAAATGTATTTATTTATTGCATGTATTTACTTATATTGTAAATTATTTTTTTTGTAATATGGATTGTAATATATTACGATGAAAAGCATGTGGCAAAAAGTATGCAAGATTAATTGACTTTTTACATACCATTCTAAAAATCCAATCCAATCCAATGGAATCCAATTAAAACTACAAGAACAACGATAGCTTATTTTTTCAGACATGGAATATTTATAAAAATACGAAAATATCCAACACAATCTTTATGTTTGCTTGTTTCAGGAGTGGCAGAACTCGATTCAGAAGAACGCTGGCCTGGCTTTCATT[G/T]AGCTGATCAACGAGGGAAGGTAAAGTCACACGTCTTCTCCTAAACCACTATCATATACAGTTGAAGTCAGAATTATTAGCAGCCTCTGTATATTTTTCCCCAATTTCTGTTTAACGGAAAGATTTTTTCCAGCACATTTCTAAACATTATATTTTTGACTCATTCCTAATAACTGATTTAGATACTAGTATGCATATTTAAAGACTTAAAAAGGTTAACTAGGCAGATTAGGGTAATAAAGCAAGTCATTGTATAACGATGCACATAATCGAAATAAATATTGCTTCAGGGAACCAATATATTTTAATAGCAATTAAAAACTGCTTTTATTCTAGCCAAAAAAAAAAAAACAAATAAGTAGAAAAAATATTGTAGGAAATACTGTGAAAAATATATTGCTCTGTTAAACATCATTTGGGAAATATTTGAAAAAAAAAATCACAGGATTACTATTAACTTTGACTTTAACTGTAGCTCTCAATTCACTTATTCTGTCTATC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa35948
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 |
---|---|---|---|---|---|
ENSDART00000041157 | Essential Splice Site | 2373 | 2883 | 45 | 56 |
Genomic Location (Zv9):
Chromosome 15 (position 32894138)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 33122413 |
GRCz11 | 15 | 32980392 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATCGCCCGCTCGTGGAGGCACTGCCAGCGCGATACTGCAGATGTGAAGG[T/A]AATCAGATAGCAGGTTTTATATGTTATAATGTCTTGGAAACTAGTCATTA
Long Flanking Sequence:
CAGCCAACAGGCCATATAATTAACTCCGCCTCGGGCACTGTTACAGAAAATGAGAGGACAAAAAAAAAACCTCCACAAACTCTTCATAATCTGACAGATGAGTCCCTACATTGAGATGTTTGTGCAAACGGAACATTTCCCAGTGCGACGGACAAGGGCTCCATCAGGAGATTGAATCCAATTACCATAAAAATGAATCGAGATGAATTTAACTTTTTCATTCTGCCCATGTTTTGGACACCGCATAGCATTAGCAAGCAGATTTGTCTAAACAAGTGGCTAATTAGCATCATGTGATATGTCTGCGGTTGTTTACAGATGTGTTTTTGAGCTTATTTGGGTTAATAAAAGTGACATTGTTGTTTTTGCTCAATTGCAGGAGCCTTTCACCACATTCTTCTTAAACGCCAACGGCAACAAGTTTGATCACCCAAACCGCACTTTCTCTAGCATCGCCCGCTCGTGGAGGCACTGCCAGCGCGATACTGCAGATGTGAAGG[T/A]AATCAGATAGCAGGTTTTATATGTTATAATGTCTTGGAAACTAGTCATTACTCCCTGACTGTAAGTAGCTGCAACATTACTACAGTTGAAACCAGAAGTTTACATACACTCTAAAAAAAGGAACATTATCATTTTTTTTTTTAAATGTCTGGTGTTAAATCATACTAAACGTTTACTATTTTAGGTTCGTTAGGATTACCTAAGTGATTTACATTTGCTAAATGCCAGAATAATAAGAGACTTTTTTTTGAGAATTTTTTTATTAATTTCTAGACAGTCAAAAGTTTACATCATTTCCTCTGCTATTTTTTTGGCTTTGCTTTGTTTAACTTTGTTCAAATGTTTTGGGTATCCTTCCACAAGCTTCTCACAATAGTTTGAAGGAATTTTGGCCTATTTCTCCTGACAGAATTGGTGTAACTGAGTTAGATTTGTTGGCTGTCTTGGTCACACAAGCTTTTTCAACTCTGCCTACACATTTTCTATGGGATTGATATCAG
Associated Phenotype:
Not determined