ZMP
snrnp40
Ensembl ID:
ZFIN ID:
Description:
U5 small nuclear ribonucleoprotein 40 kDa protein [Source:RefSeq peptide;Acc:NP_956616]
Human Orthologue:
SNRNP40
Human Description:
small nuclear ribonucleoprotein 40kDa (U5) [Source:HGNC Symbol;Acc:30857]
Mouse Orthologue:
Snrnp40
Mouse Description:
small nuclear ribonucleoprotein 40 (U5) Gene [Source:MGI Symbol;Acc:MGI:1913835]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa16628 | Essential Splice Site | Available for shipment | Available now |
| sa14008 | Essential Splice Site | Available for shipment | Available now |
| sa23589 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa16628
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 |
|---|---|---|---|---|---|
| ENSDART00000038230 | Essential Splice Site | 167 | 347 | 4 | 10 |
| ENSDART00000038230 | Essential Splice Site | 167 | 347 | 4 | 10 |
Genomic Location (Zv9):
Chromosome 19 (position 44612396)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 19 | 43440064 |
| GRCz11 | 19 | 43009501 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTCGCGGCCCACAGCTGGCCTGCACYGGCAGCGATGACGGAACTGTGAAG[G/A]TAAATCCCAGGATTAGACTCGYAACTCTTTAGATGTCTYRAATCTTAGGA
Long Flanking Sequence:
AGGGTGGGCAGGGAGAACTAGCATTAAAGGCGCAGGCAACAAAAAACAGCTACAATGTGTTCAGAGCAGAAAAATCCAACATTCTGAAAGGTCTAATAAATAATCTGATGGGTGTTTTGGAGACACAAAAGACTTATCTTACATCTTGAAAAAGGGGTAAAATAGGTGCCCTTAGGGATTTAAGTGTAGCAATATAAACATAGTCAACCTGCACTTATGCAGCGTCCTTTCAAAAAGGTGATGTCTATATCTGTAATACATGTTCAATTAAGTGTATTTGGGTGTTAATAATGTCTAAAATGCATCGTACTAAAAGTGTGTTTGTGTTTTTTAGCCTGCTGTTCTCTGCCAGTACGGATAAGACAGTGTGTGTGTGGGACAGCGAGACGGGGGAGCGTGTGAAGCGGCTGAAAGGCCACACGTCCTTCGTGAACTCGTGTTTTCCAGCACGTCGCGGCCCACAGCTGGCCTGCACCGGCAGCGATGACGGAACTGTGAAG[G/A]TAAATCCCAGGATTAGACTCGTAACTCTTTAGATGTCTCGAATCTTAGGAATGAATCTTAAAAAACTTCAAGACATTTTTTACAAACTCACTCTGGTGCAGGATATTGTTAAAGTGAACAGAATATGGCTCCTTTTCGGATCCTTTTCACAACACTCTTATGATTTATATGTATTTATGTACAGTTGAAGTCAGAATTATTAGCCCCCCTGTGTATTTTTCCACCAATTTCTGTTTAACTGAAAGATTTTTTCAACACATTTCTAAACATAATAGTTTTAATAACTCATTTCTAATAACTGATTTATTTTATCTGTGCCATGATGACAGCACAATATTTTACTAGATATTTTTTAAGAAACTAATATTCACCTTTAAGTGACATGTAAAGGCCTAACTAGATTATTTAGGCAAGTTAAAGTAATTAGGTAAGTTATTGTATAAATAATGTTTTTTTTTCTCTAGACAATCTGAAAAAATATTGCTTTAGGGGGCAAATAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14008
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 |
|---|---|---|---|---|---|
| ENSDART00000038230 | Essential Splice Site | 167 | 347 | 4 | 10 |
| ENSDART00000038230 | Essential Splice Site | 167 | 347 | 4 | 10 |
Genomic Location (Zv9):
Chromosome 19 (position 44612396)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 19 | 43440064 |
| GRCz11 | 19 | 43009501 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTCGCGGCCCACAGCTGGCCTGCACYGGCAGCGATGACGGAACTGTGAAG[G/A]TAAATCCCAGGATTAGACTCGTAACTCTTTAGATGTCTYGAATCTTAGGA
Long Flanking Sequence:
AGGGTGGGCAGGGAGAACTAGCATTAAAGGCGCAGGCAACAAAAAACAGCTACAATGTGTTCAGAGCAGAAAAATCCAACATTCTGAAAGGTCTAATAAATAATCTGATGGGTGTTTTGGAGACACAAAAGACTTATCTTACATCTTGAAAAAGGGGTAAAATAGGTGCCCTTAGGGATTTAAGTGTAGCAATATAAACATAGTCAACCTGCACTTATGCAGCGTCCTTTCAAAAAGGTGATGTCTATATCTGTAATACATGTTCAATTAAGTGTATTTGGGTGTTAATAATGTCTAAAATGCATCGTACTAAAAGTGTGTTTGTGTTTTTTAGCCTGCTGTTCTCTGCCAGTACGGATAAGACAGTGTGTGTGTGGGACAGCGAGACGGGGGAGCGTGTGAAGCGGCTGAAAGGCCACACGTCCTTCGTGAACTCGTGTTTTCCAGCACGTCGCGGCCCACAGCTGGCCTGCACCGGCAGCGATGACGGAACTGTGAAG[G/A]TAAATCCCAGGATTAGACTCGTAACTCTTTAGATGTCTCGAATCTTAGGAATGAATCTTAAAAAACTTCAAGACATTTTTTACAAACTCACTCTGGTGCAGGATATTGTTAAAGTGAACAGAATATGGCTCCTTTTCGGATCCTTTTCACAACACTCTTATGATTTATATGTATTTATGTACAGTTGAAGTCAGAATTATTAGCCCCCCTGTGTATTTTTCCACCAATTTCTGTTTAACTGAAAGATTTTTTCAACACATTTCTAAACATAATAGTTTTAATAACTCATTTCTAATAACTGATTTATTTTATCTGTGCCATGATGACAGCACAATATTTTACTAGATATTTTTTAAGAAACTAATATTCACCTTTAAGTGACATGTAAAGGCCTAACTAGATTATTTAGGCAAGTTAAAGTAATTAGGTAAGTTATTGTATAAATAATGTTTTTTTTTCTCTAGACAATCTGAAAAAATATTGCTTTAGGGGGCAAATAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23589
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:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000038230 | Essential Splice Site | 167 | 347 | 4 | 10 |
Genomic Location (Zv9):
Chromosome 19 (position 44612397)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 19 | 43440065 |
| GRCz11 | 19 | 43009502 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCGCGGCCCACAGCTGGCCTGCACCGGCAGCGATGACGGAACTGTGAAGG[T/A]AAATCCCAGGATTAGACTCGTAACTCTTTAGATGTCTCGAATCTTAGGAA
Long Flanking Sequence:
GGGTGGGCAGGGAGAACTAGCATTAAAGGCGCAGGCAACAAAAAACAGCTACAATGTGTTCAGAGCAGAAAAATCCAACATTCTGAAAGGTCTAATAAATAATCTGATGGGTGTTTTGGAGACACAAAAGACTTATCTTACATCTTGAAAAAGGGGTAAAATAGGTGCCCTTAGGGATTTAAGTGTAGCAATATAAACATAGTCAACCTGCACTTATGCAGCGTCCTTTCAAAAAGGTGATGTCTATATCTGTAATACATGTTCAATTAAGTGTATTTGGGTGTTAATAATGTCTAAAATGCATCGTACTAAAAGTGTGTTTGTGTTTTTTAGCCTGCTGTTCTCTGCCAGTACGGATAAGACAGTGTGTGTGTGGGACAGCGAGACGGGGGAGCGTGTGAAGCGGCTGAAAGGCCACACGTCCTTCGTGAACTCGTGTTTTCCAGCACGTCGCGGCCCACAGCTGGCCTGCACCGGCAGCGATGACGGAACTGTGAAGG[T/A]AAATCCCAGGATTAGACTCGTAACTCTTTAGATGTCTCGAATCTTAGGAATGAATCTTAAAAAACTTCAAGACATTTTTTACAAACTCACTCTGGTGCAGGATATTGTTAAAGTGAACAGAATATGGCTCCTTTTCGGATCCTTTTCACAACACTCTTATGATTTATATGTATTTATGTACAGTTGAAGTCAGAATTATTAGCCCCCCTGTGTATTTTTCCACCAATTTCTGTTTAACTGAAAGATTTTTTCAACACATTTCTAAACATAATAGTTTTAATAACTCATTTCTAATAACTGATTTATTTTATCTGTGCCATGATGACAGCACAATATTTTACTAGATATTTTTTAAGAAACTAATATTCACCTTTAAGTGACATGTAAAGGCCTAACTAGATTATTTAGGCAAGTTAAAGTAATTAGGTAAGTTATTGTATAAATAATGTTTTTTTTTCTCTAGACAATCTGAAAAAATATTGCTTTAGGGGGCAAATAAT
Associated Phenotype:
Not determined