ZMP
si:dkey-15g19.1
Ensembl ID:
ZFIN IDs:
Human Orthologues:
AL929601.1, NF1, NF1P4, NF1P5
Human Descriptions:
Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:C9IYV8]
neurofibromin 1 [Source:HGNC Symbol;Acc:7765]
neurofibromin 1 pseudogene 4 [Source:HGNC Symbol;Acc:7769]
neurofibromin 1 pseudogene 5 [Source:HGNC Symbol;Acc:7770]
neurofibromin 1 [Source:HGNC Symbol;Acc:7765]
neurofibromin 1 pseudogene 4 [Source:HGNC Symbol;Acc:7769]
neurofibromin 1 pseudogene 5 [Source:HGNC Symbol;Acc:7770]
Mouse Orthologue:
Nf1
Mouse Description:
neurofibromatosis 1 Gene [Source:MGI Symbol;Acc:MGI:97306]
Alleles
There are 6 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa16515 | Nonsense | Available for shipment | Available now |
sa21786 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa16515
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 |
---|---|---|---|---|---|
ENSDART00000021631 | Nonsense | 1327 | 2759 | 31 | 57 |
ENSDART00000131897 | None | None | 636 | 31 | 57 |
Genomic Location (Zv9):
Chromosome 10 (position 38650037)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 37373052 |
GRCz11 | 10 | 37316810 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGCGTTTTCCTCAGAACAGCATTGGAGCTGTAGGCARTGCCATGTTCTTG[C/T]GATTCGTRAATCCAGCTATAGTCTCWCCATACGAGGCTGGGATTCTTGAC
Long Flanking Sequence:
CTCGACTCAAGCCATAAGTGTTTATTTTTAACTCTGGGATCACCTTTAGGCTGCTCTAATAGTAGAACAGCAACTACTGGAAAGGTGGGGATAGAGATAGTAAGTCATCTGATTGGTCGAATTTAGATAACCAATAGAGTAAATGTAATTTATCACACCTCTTCGATTACGTTTATTGCATATGCTATTATCATGATAACAAAATTTAGCGATTTTTTTTTTATTGTGCAGCCCTAATCACTATCTATTAATCCACTTATTATTATCAATTGATTAACTACACCTCCCGTAAACTAAAGTTTGTCTGGTTTAGCTTTAAATTGCACTTGAAAATTGTGAGATTGTGGATCTGCTTTGTAAATCTTGATGAAATGGTGCCATGGTTCTCCAGGTGTAAAATTCTTCTTATCTGCTTTTGTGTTTGTGTGTTTTGGTTTCAGGTCGTGAGCCAGCGTTTTCCTCAGAACAGCATTGGAGCTGTAGGCAGTGCCATGTTCTTG[C/T]GATTCGTGAATCCAGCTATAGTCTCTCCATACGAGGCTGGGATTCTTGACAAAAAACCTCAGCCTAGGATAGAAAGAGGCCTAAAACTCATGTCCAAGGTGTGAATTTTTGTCTGCGCAGAGCTACTAGCATACATTTCAGATATTGTCTTCATGTAAAATATAATATTGGCCTATATTTAGTAGTGCTCAACATATCTGTTTTATAATCAAAGTTTTAATCTGCTGTTTATTTATTATTGTGATCAGTATTATTTTTTTAATAGAAAGGCACATAATTTAGGGCACATAATGTAATAAACAGCATTTTAAAGTCGGTAAAACGGCTGAAAACATCCTAAATAGTCTTTTTTTTCCTGTGGTTTAAATGTATCTCCCTTGACCTTTGAACTTAAGTACCCCCGTTTTAGACCATCAAATCAAGATCAGACACTACAGGATTGACTTCAATTATTGAATTTCTCACCCCTCTGCAGATTCTCCAAAGTATTGCCAACCATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21786
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000021631 | Nonsense | 2727 | 2759 | 57 | 57 |
ENSDART00000131897 | None | None | 636 | 57 | 57 |
Genomic Location (Zv9):
Chromosome 10 (position 38727704)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 37450719 |
GRCz11 | 10 | 37394477 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGAACAGGAATGGATAAAGAGAAAGTGGATCTATCCCCCACCACGGGTT[T/A]GGCAGCCGGCGGACGCACACGCCACGGCTCGGCCAGCCAGGTCCAGAAAC
Long Flanking Sequence:
GTCTCTGACTGACCCACCCGGGCCATTCCATAAACAATAGTAATGATTGAAGCAAAGGTTTTCACTGTGGGGACATGTCTTTATAAGTACAATTTGTCTGATATGTGTGTCCCCTTTAAAAAATGCTCATGAGAAATTTTTTGTTTATTGTCCACTCTAATGTTAAATGACATTTACGCTCATGCTTTAAGCTAGGGGTCATCAAACTTGTTCCTGAAAGGCCGGTGTCCTGCAGATTTTTGCTCCAACCCTAATCAAACACACCTGAATGAGCTAATCAAGGTCTTACTAGGTATACTTGAAACACCCGGTCAGGTGTGTCGAGGCAAGTTGGTGCAAAACCCTGCAGGGACACCGGCCCTCCAGGACTAAGATTGGTGACCCCTGCTTTAAGCAATTGATGTGATTTGTCTAATCATGCAAATGTCTTTTTTTGTTGTTGTTGTTGCTTGGAACAGGAATGGATAAAGAGAAAGTGGATCTATCCCCCACCACGGGTT[T/A]GGCAGCCGGCGGACGCACACGCCACGGCTCGGCCAGCCAGGTCCAGAAACAGCGCAGCACCGGCAGCTTTAAGAGACCTAGCATTAAAAAGATTGTATGAGAACTGCAGCACAGCAGGGTTTCGCCTCTGCTGGACCTCTAACATACATTCTGCTGCCTTTTCTGCGGCTTCTCTTCACTCCCGCTAAACCCAGCATTTACGATAATCTTTAGGTTCTGCTGTTCGGGATCCAAATGAAAACCTCTGTTTTTAAAACCAGCCACTGTTTAACACGGATGGGAGGACGTCCAGTATTTTTAGTTATATTTGTGCATAATAGAACTGAATAGTATATTGTTTTTTAAAAGCACTACATTCTTTCTTACTTTTAATACGTGGAAGTATTAACCAAGTGCCATTCCTTTGTTGCATTTATTTGGTTTGATTTATGAGACGCTTAAAAGAAATGTACAATCGTTCATGAACAACTACAAAAACGTACACTTTGGATTTTATAGTA
Associated Phenotype:
Not determined