ZMP
nf2a
Ensembl ID:
ZFIN ID:
Description:
merlin [Source:RefSeq peptide;Acc:NP_001122179]
Human Orthologue:
NF2
Human Description:
neurofibromin 2 (merlin) [Source:HGNC Symbol;Acc:7773]
Mouse Orthologue:
Nf2
Mouse Description:
neurofibromatosis 2 Gene [Source:MGI Symbol;Acc:MGI:97307]
Alleles
There are 7 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa33540 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa20351 | Nonsense | Available for shipment | Available now |
| sa15625 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa33540
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 > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000099617 | Nonsense | 17 | 593 | 1 | 17 |
| ENSDART00000132564 | Nonsense | 17 | 593 | 2 | 18 |
Genomic Location (Zv9):
Chromosome 5 (position 12897105)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 11308508 |
| GRCz11 | 5 | 11808725 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTATGGCTAGTGCCCTTGCATCAAAAATGGGACTCTCTCTTCGGAGGAAG[C/T]AAGCCAAAATCTTCAATGTTACAGTTGTTACAATGGATGCTGATTTGGAG
Long Flanking Sequence:
CAAACAGGTAATTACAAGACGAGATGTTTTGAAATCGCCTAAAAGTTACATGAACGTATAGTTACTTTAGTTTTGTAAAATAGGTTTGCAGTTTCAGATATGTGATGGTTACTAAACTATTTACGCAAATGAGCCTCTTGCTATTGTACGTGTATTGAGCACGTACCTTTCTTTGTAAACTCACGCTGTCTTCTTTATCTCTTATCTTCTTGCAGGTGTAATGGCGGTGTGGAGGAAGTAAAGGGATAATGTATCCAGCTACTAGTTACCTTTTACCGCAGGTGGTTTTGTCGACGTCCTGCCATCAGGCATGCATTTGTCATCGCATTTTTGTTACTAGAGTGTAGCTTTTAAGCAGAGAGGTCATCTCTTTGTTTCTTCATAAGCTATGTTTCAGATAGACAGATAGTCAACAGGTTGTTTCTAAAGAGGAGAACCCATGAGCAGCTATTATGGCTAGTGCCCTTGCATCAAAAATGGGACTCTCTCTTCGGAGGAAG[C/T]AAGCCAAAATCTTCAATGTTACAGTTGTTACAATGGATGCTGATTTGGAGTTCAGCTGTGAGGTGAGTGGTACATTAATACTTGCTTTGAATGTCGAGGTAAAGTTGGTTTTATATTTGCACATTAAGAGTGTCACCTTATAATAATTTCAGCCAATTAATCTTCGCAAATTCTAAATCATGAAGTCATATTAGCAACCAATGACTATCAAAGTACAACATTGTTCGTGACTAAATAGTGCCAATGTTGTTTTGAAGTCATTTTTACATGTGACTGCAGATTATTCAGTGTAGCGGAGTAAACTACATTGAGGGTGTTAAAATGAATAAATGTGTGAATTTAAAACCTTTAACTTTACCACAATGCTTTGAATGTGAGCATTTCCAGCGTTAGGGATGTGACATTTGCAATAAACACTCCACACATAAATTGACAGAGAAAGTATATGCTAACATTATTTTGAAAGATCTGTTTGTATTTACCTTAACAACTATAGAGTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20351
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000099617 | Nonsense | 59 | 593 | 2 | 17 |
| ENSDART00000132564 | Nonsense | 59 | 593 | 3 | 18 |
Genomic Location (Zv9):
Chromosome 5 (position 12883457)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 11294860 |
| GRCz11 | 5 | 11795077 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAGGATCTGTTTGAACTTGTATGCCGGACATTGGGGCTCAGGGAGACTT[G/A]GTTTTTTGGTCTGCGGTACGACGTCAAAGACACTGTGGCCTGGCTGAAAA
Long Flanking Sequence:
TTTTTCACCAGCTGAATATGGTAATTTTTCTTTCTGGCCTCTTGACAGTAGTCCTTGGATAAAAGATGAACTTATAGGTCCAAAAATGAGTGCATGCGCTTGCTGACAGCAGTGACTTTGTAATGATGCTCAGACTAATTTCTTCGCTTTGTGTCCGCATAGTCTGTGGAAATGAGGTTATTCAGGGAACGTCGCTGTTCATTACGCCGGTGCTGTTTAGATTTGTGGTCAGTCTGAATTCGATTAGTCTGCTTCAATCCTTAGAGAGTTTAAGCTGTTTCCTATAAAGACTTCTTGAAATTAAAATGAGCTTTTTATTGTGATCTGTCAATGTTCATGTATGTCCCGAACCCAACTTCTTGTTTTAGTTTGAATTATGACATAGGAATGGGTCTAAAATACTTTCAATTTCTTTTTTGTTATCTTGTTTGGGCAGCTGAAGTGGCGAGGAAAGGATCTGTTTGAACTTGTATGCCGGACATTGGGGCTCAGGGAGACTT[G/A]GTTTTTTGGTCTGCGGTACGACGTCAAAGACACTGTGGCCTGGCTGAAAATGGACAAGAAGGTAAATCACTAGTTTAAACTTTTTTTTTTTTTTTTTTGCACGATTCTGGCTAAAATGAGAATTATGATTTTTTTTTGCTTAAAATGAAGATCATGATTTTCTCACGATTCTGTAGATGTAAAATAAAGGTTAATATGAGAAGGCTATTATTATTGTTATTTCTCAAACTTAAAACAACAATAATGATATTAGGCCTATGTGTAAGTCTACTGTTGGTTAAAATGCTACATTTTGTATAGATTTGGAAAGGTGAACTTGAACAGACTTCAGTGTCCTGTTTGATAATTCACTGTAAAGTGATGACATCCAAATATATTCATATTCAACTATTCATAATTCTAAAATAGGGACGCTTATTTCGGTTAATTTTGCCAACCGACAACCGCCGCTCGTTAACCGAATATTAACTGTTAACAGATTAATATTAAAATATTATTTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15625
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 |
|---|---|---|---|---|---|
| ENSDART00000099617 | Essential Splice Site | 577 | 593 | 16 | 17 |
| ENSDART00000132564 | Essential Splice Site | 577 | 593 | 17 | 18 |
Genomic Location (Zv9):
Chromosome 5 (position 12827544)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 11238947 |
| GRCz11 | 5 | 11739164 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATAATGAGAACACGGAGAAAGGCACCAGCAAGCAGAGCAACTTTAAAAAG[G/A]TGGGTTAAATGCATCTCGCACAAAAGCCAGACAATGTGTGATACTTGATT
Long Flanking Sequence:
AAAAAAAACTAAATATTGCAAATGTCCGTTTTTTTTTTTCAAATATTGTGCAGCTCTAGTACAGAGAGTTATTTTTTACATGTATTAATATTAATAACTAGAGTCATTTGTTTTCAGTTTTGATTGAATTCCACAATGCCACCTTTCCTGCTGAGTTTTAATTGAATGAATGCATCTTTACAACAAGTATAACTCCTACAGACCCTGTAGTTTTAGAATTAGCCAATGTCGTTACACACAAAAAAACAGAGAGGTGACAAAACTGTTGCGAAAAGGCCTTAAAGCAGATGGAGACCAAGAGAGCAGCTTTGTTACACAATGCGTCTGTCCTGTTTGGCAGGGTTGAGTACATGGAGAAGAGCAAACACCTTCAGGAGCAACTGAATGAACTGAAGACTGAGATTGAGTCATTAAAGCTAAAGGAGCGAGAAACGCCTCTAGACATCCTCCATAATGAGAACACGGAGAAAGGCACCAGCAAGCAGAGCAACTTTAAAAAG[G/A]TGGGTTAAATGCATCTCGCACAAAAGCCAGACAATGTGTGATACTTGATTTTTAGATTTGCTAAACCTCATGCTAAAGCCGGGACAATCTAATGGTGTCTTCCAACTCATTTTCGTTTTGTTTTGTCTTTTATCTCTATTTGTTGATTTGATATTAGATAAAGTAAAAGAAAAGAGTGAGATATGAGATGTGAAATGATGTAAGCTGTGCTCAAACTTTTTTTCTTTTTGCCCAAGACATCTTACTTCAGTGCTTTCCACAGGTTTGAAATGTACTTGCGGTGGTAGCCGGATTGAAACACACTATTTACCTACGTCACATATAGGGATGCAACGATTAACCGGTTTCACTATTACCATCGCTTTAATTCGTCACGGTTAAATAATAGTATAGGCTTCTCAACACCGTGTTTCTGCACGGATCAAAACTGTGGCAACTAAGCAAAGTTATGCCAGCTGTGCGCTAGTTTGTACACTGAGGCTAATAACCATGCACATTGG
Associated Phenotype:
Not determined