ZMP
ENSDARG00000051970
Ensembl ID:
Human Orthologue:
SMU1
Human Description:
smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) [Source:HGNC Symbol;Acc:18247]
Mouse Orthologue:
Smu1
Mouse Description:
smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) Gene [Source:MGI Symbol;Acc:MGI:1915546]
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa18504 | Nonsense | Available for shipment | Available now |
sa15438 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa18504
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 |
---|---|---|---|---|---|
ENSDART00000073694 | Nonsense | 167 | 539 | 4 | 13 |
Genomic Location (Zv9):
Chromosome 1 (position 45494371)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 44337590 |
GRCz11 | 1 | 45038893 |
KASP Assay ID:
2259-0946.1 (used for ordering genotyping assays)
KASP Sequence:
CTGGAGAGGTCTGTTTGGTGCCCCCTTCTCGTCTCATGGGTCTTCTTGGY[C/T]AGGTTTGACACCTTTCATTTCTTTTCTTTTTTTNTCTAACCTGTTGCAGGC
Long Flanking Sequence:
GTCAGAATAACACTGTTAACATCTATAGGCAGAAACGTTGATGTGTACTTTGTGTGAATGTGAACTTACTGTATATTAATCTCCCAAATTACAAACGTCTTTTAAGGTCATTAGAGTATTTGTAAATATAGAAATCTTGCATTTGTTTTTATTGCTAAATAACAGAATTACTAAGTACAGGAAATAGTAAAAGTTGTCAGAAAAAAAAAACACAAATCTGTGTTTTTATGATTATGATATATTGATCACAGCTGATGCATCTCAACAGACAGTTGTTTACAGCTAAAGTAACTGAATAATGGATTGCATAATCACACTTCTCCGTCCAAGCCAAGGCGGATGATATTTTTGTGAAACAATGAATAACTACTTTTTTTGGCATTGGCTTGCAGGCATATCCAGTGGGCAGCAGTAAAGAGAAGCGCAGACTTGCTATCGCTCAAGCTTTTGCTGGAGAGGTCTGTTTGGTGCCCCCTTCTCGTCTCATGGGTCTTCTTGGC[C/T]AGGTTTGACACCTTTCATTTCTTTTCTTTTTTTTCTAACCTGTTGCAGGCTATTTATATATGTGGTGCCTTTTTGTATTGCCTGTATCACACATCCTTTGTTTTTACAGGGCCGTATATGTGAAGGGGCTCTTTATAGGTTACAGGAGACCAAAGCGCTCAGACAGTTTGGCTCATTAGCAATGCTGGTAAGGAAAATATAAAGTATTTTAGTAGTTTAGCATGTTTAAGCTTTCAAGAATTGTGTATATTCTACACCAGGGGTCACCTATCTCATTCCTGGAGGTCTGGTGCCCTCCAGGGTTTAGCTCCAACTTGCCTCAACACACCTGCCTGGGTGTTTCAAGTATACCTAGACCTTGATTAGCTTGTTCAGGTGTGTTTGATTAGGGTTGGAGCTAAAATCTGCAGGACACCGGCCTTCCAGGAACAAGTTTGGTGATCCCTGTTCTACACCATATCTATTAACTGAGCAGTATTAGCAGGTTTTTTCCTTGTTCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15438
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 |
---|---|---|---|---|---|
ENSDART00000073694 | Essential Splice Site | 400 | 539 | 10 | 13 |
Genomic Location (Zv9):
Chromosome 1 (position 45477528)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 44320747 |
GRCz11 | 1 | 45022050 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CGCACGACGGCCAGCATGTCATTAGCGCWTCGGCGGACGGCACGGTAAAA[G/A]TATGTWTTCACACTGTAGTGTCCWGCCTTTACTAGTCTTTGCCTTTCASA
Long Flanking Sequence:
TGTTGTCAAGGAATTAATCATTAATTGATCACATCATAACTTGCGAGTGTGTTCTTTTGTCTCTCAACAACAGAGGAATAATAATCAATCTAATTTGTGGATTGTGAGATGAGAAAGTAAGGCTGCAGTTTGTACACAAAATTTAAAAAAAGGTCTTTAATGTTATTTTAAGGTTTTTCCTTTTGGATTTTAGGCTCTTTGCTTAAAATAATCAATTCATGGCATCATAACATGCTTCCTTTTTATGAATTGCTTCTTTGTTTCGTATGATTTTTGATTGTCGCTCCTTTTCTTGGGCTTAACATTTATTAAGCAAATAAGTTGTGTGTTGTGCTTACAAATACATTTCTAACTCCTTTATTTCAATGATCAGGATTCATGGTTTGAAGTCAGGGAAGTGCTTGAAGGAGTTTAGAGGCCACACAGCTCATGTAAACGATGTCATCTACTCGCACGACGGCCAGCATGTCATTAGCGCATCGGCGGACGGCACGGTAAAA[G/A]TATGTATTCACACTGTAGTGTCCTGCCTTTACTAGTCTTTGCCTTTCACATGTACTTTTGAGGATTTTCTTACTCATTTTTGTTTTTCGTCAGGTCTGGACCGTGAAGACAATGGATTGCACCCACACAATAAAAACCCCTGACATCCCTGAGGGTACAGACATCACAGTTAACAATGTTGTGCTGGTTCCAAAGACCCCTGAGCACTTTGTAGTGAGCAATAGGACCAACACAGTGGTTGTTACGAACATTCATGGCCAGGTGAGAAACACTAATTGACCAAAACTGGCTTAAAGGAGTCTTTTTCGGGCCTTTTCATTATTTTTGTACAGTTATCTGAGGTCCATTTATAATGTTACTAAGATGTATATATAAAAATATATATTTTGGAAGCAATGGCTATTTACAGATCTGTTTTGATCTCCCAAATTGGATCACAGTTATTATAGACATGGTGGATTATAAACTTTAAAGTAAACACATACTCATATGATTGGCTA
Associated Phenotype:
Not determined