ZMP
smn1
Ensembl ID:
ZFIN ID:
Description:
Survival motor neuron protein 1 [Source:UniProtKB/Swiss-Prot;Acc:Q9W6S8]
Human Orthologues:
SMN1, SMN2
Human Descriptions:
survival of motor neuron 1, telomeric [Source:HGNC Symbol;Acc:11117]
survival of motor neuron 2, centromeric [Source:HGNC Symbol;Acc:11118]
survival of motor neuron 2, centromeric [Source:HGNC Symbol;Acc:11118]
Mouse Orthologue:
Smn1
Mouse Description:
survival motor neuron 1 Gene [Source:MGI Symbol;Acc:MGI:109257]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa14881 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa14881
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:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000028099 | None | 171 | 281 | 5 | 9 |
| ENSDART00000127956 | Essential Splice Site | 171 | 280 | 6 | 11 |
Genomic Location (Zv9):
Chromosome 5 (position 45422863)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 43204128 |
| GRCz11 | 5 | 43804281 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GAAGAGAGTGATCGCTCTTTCACCCCACAGAAGTCMGGTCATGCAAAGCA[C/T]AAATCTAAAAGCAATTTTCCTATGGGACCYCCATCATGGTTTCCCRGTTT
Long Flanking Sequence:
GGAAGAAGAGGAAAAACAACAAAAAGAATAAGAGCAGGAAGAGATGCAACGCAGCACCGGATAAAGAGGTAATTACAAACCATCTCTCAGTTTGTTTGGAGTTATAATACAAGCTGATGAACTGAATGTGTTTTGTAGTGGCAGGTTGGAGACTCCTGTTATGCGTTCTGGTCTGAAGATGGCAACCTGTACACTGCCACCATTACCTCAGTCGACCAGGAGAAGGGCACCTGTGTGGTCTTTTACACAGATTATGGAAATGAGGAGGAGCAGAACCTCAGTGACCTTCTGACTGAGCCTCCAGACATGGATGAAGATGCTCTGAAGACAGCAAATGTATGAAGAGTGTGAAGTTCACACCACTTAGATGTTTAAGCATTGAATTATGCAGTTGCATAATATTGACGTTTGTTTGCTTTAACACAGGTCAAAGAAACAGAGTCCTCCACAGAAGAGAGTGATCGCTCTTTCACCCCACAGAAGTCCGGTCATGCAAAGCA[C/T]AAATCTAAAAGCAATTTTCCTATGGGACCCCCATCATGGTTTCCCAGTTTCCCACCTGGACCGCCACCACCACCACCCCACTTTAAAAAGGTGAATATCTCTGACTGCCATTTACTTACTTGCATACATACAAAAAGAGTTAGTTCACCCAAAAATACAGACTTTTCACATATTAGCAATATAAAGTAATATGTGGACATTTTTATGTTTGGCATAAACATTATGTATTAATAGGGCACCTATGATGAAAGCCCTCTTTTGTAAGCTGTTTGGACAAAACTGTATGTAGGGTTAGTGTGTCCACAGTAATAATAGAGTAATATAAAGACAATAAGTCTCTTTTTTTAATTGCCTGTCATTAAAAAAGGATCCAAGTCCTTCCCGCAACATGATGTAGGAGAGCGGTTTTCCCGCCCAACAAATTGATTGACAGCCGCATATTAACATTTCTCCGTTGTAACTCGTATAATTATATCAACAAGACAGGATGTGCGCAAAGC
Associated Phenotype:
Not determined