ZMP
nptnb
Ensembl ID:
ZFIN ID:
Description:
neuroplastin [Source:RefSeq peptide;Acc:NP_991268]
Human Orthologue:
NPTN
Human Description:
neuroplastin [Source:HGNC Symbol;Acc:17867]
Mouse Orthologue:
Nptn
Mouse Description:
neuroplastin Gene [Source:MGI Symbol;Acc:MGI:108077]
Alleles
There are 5 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa1762 | Nonsense | Available for shipment | Available now |
| sa12048 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa1762
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 |
|---|---|---|---|---|---|
| ENSDART00000064403 | Nonsense | 228 | 403 | 4 | 9 |
| ENSDART00000143245 | Nonsense | 21 | 196 | 1 | 6 |
Genomic Location (Zv9):
Chromosome 18 (position 985400)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 18 | 1293337 |
| GRCz11 | 18 | 1185713 |
KASP Assay ID:
554-1755.1 (used for ordering genotyping assays)
KASP Sequence:
GCCCAGGACTGATGATTCTGGAGAGTACATGTGTGTTTACACCTTTAAAT[C/A]GGCACCCAATGCCAATGCTTCCATTGAGGTCAAAGGTAAGAGACGCATTC
Long Flanking Sequence:
ATAAAAGCAAACCGTACCGTACCACTCAGTAAAAATGGGCCATTAGAGCCAAAGGGACGCATTCACTTTAGGAAGCTCATCTCTCTTCCTAAATGACTTCTGTTTTCTCTTTGTTTAACTAAAGAATGTTTTGGCACATCCAACTGTTAGGATGTTAGACCTGTTTTAAATCTGCCACTATGCTGACACATATGCATTTAAAGCTCCGCCCTCTTCTGAGCTCAATCTCATTTGAATTTAAAGCGACAGTCACCAAATCACCACAATTAGGATCAAAAAAGGGTCAGTTTCAGAGAGTTATACACATGATCCCTGTGCTATTTTGAGCTGAAACTTCACATTTTCCATCTTGTTAAATAAGTGTGTTTGTAGATAGTAGAGATTTGTGTGTGTGTGTGTGTGTTTGAGCTGCCACTGATTATGTCTGCTTGTGTTTTGCAGGTTAAATAAGCCCAGGACTGATGATTCTGGAGAGTACATGTGTGTTTACACCTTTAAAT[C/A]GGCACCCAATGCCAATGCTTCCATTGAGGTCAAAGGTAAGAGACGCATTCAGGAAACTCATTAACAAAGCCTTATCGCCATGGAGACGCTGACGACCCAACCCGCCTTATAATTAGCTATTGTTTGAGTTGTAATTAGCCTCTGTTCACCTTAAAATACACTCAGTGCTGGTACAGACTGTGTGTGTGTGTGTGTGTGTGTGTGTCAAGATGCCCAATCACTGCTGTTACTCACAATCACAGCAACCCTCCAACAAAGTGTGTTTATGTGTGTTTTGCTGGATGTGTGTGTGTGGGAGTGTATATACGTGTGTTTGGGTGCGTGTGTATATCTGTGTATACTGTATGTGTGTGTGAGTGTATATGTATGTGTGTGTGTGTTTGTGCTTGTGTGCATGCATGCATGTGTGTGCATGAGAGTGTGTGAGAAGACAGAAATAGGCCAGTATGGACTGTGTGTGTGGAGCAGAGTGTGTGTGTCTGCAGGCTGCGGGCAGAAAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12048
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 |
|---|---|---|---|---|---|
| ENSDART00000064403 | Essential Splice Site | None | 403 | None | 9 |
| ENSDART00000143245 | Essential Splice Site | None | 196 | None | 6 |
Genomic Location (Zv9):
Chromosome 18 (position 961381)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 18 | 1269318 |
| GRCz11 | 18 | 1161694 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCAGCGGAACACCAATTGACCAATGGACCAACACAGAGCAATGCTGAAGG[T/C]TTACAATCATACTCAATCTGCTTTTCTAAACSRCCAMGCAAACATAGTCT
Long Flanking Sequence:
CAATTCTGTCTCTATGCATTTTTCTATTGCATAAAAATAACACAGTGGCAAGAATGGCACAGCTCAAACACTCTAATGGCTAATGGACAGACGGCTGCTTCTCACTCAGGGCTGCTGTTCATACTAATAAAGACGAGATGGGCACTAGTGGGCGGGGCTTTCCCCCTCTGATGACACACACAAAAGGAGAATGTCAATCAGAGTTTTGATCAAGTCTGATTATAACAGATACATGTTTACCATTAGAGGCTGGATATATTGACACACGGCTACCACACAACCCCTAATAAAAGTGATTTTTGCATAAAAACTCCATTTAACTAACCTTATTGTGAAGTGTTAGCATTAAAAACCCAGCTGACTCAAGTGTTATGATGCATGAGTGTGTTTTATTAATCTGTCCACCAGGAAAACAAACTCTACGAACAACCACAAAGACAAAAATGTCCGGCAGCGGAACACCAATTGACCAATGGACCAACACAGAGCAATGCTGAAGG[T/C]TTACAATCATACTCAATCTGCTTTTCTAAACCGCCACGCAAACATAGTCTAAACTCCTGCTGTTTCCAGATGACCAACTGCATATCCTGACCAGACGGACGTGTCCAAGGAGAGGAGACGCTCGTGGAGATGCAAATCCTGCCTCGCGAGGTGAAGAAAACAACAATAACCACAGCATTACACTGGCACAAACCTACAATAAAGACTGTCTTAAGTTTGCCTTATTCAGGCTCATGATGTGTGTGAATGCGGACGCTGACGGGGAGGATGAGTTTCCGTGCTGTTGTCGTTGCATATCTTTCTTTTATCATGCCCTCCTGCTGCACTAATTCTTTTTCATATCTACATGTTGTCTCGAATGCATGCAATAACATAATCTAATAAGATTCAGATATCGTTTTCTATCGTTACTTTAGATGGCGTTGCATCCAAATGAATAACCCGTGTGTCTGTTTATGTGTGTGTGTGAGAGAGACAGTGTGTGTGTGTTTTTAAAGAAA
Associated Phenotype:
Not determined