ZMP
LOC100001302
Ensembl ID:
Human Orthologue:
UBA7
Human Description:
ubiquitin-like modifier activating enzyme 7 [Source:HGNC Symbol;Acc:12471]
Mouse Orthologue:
Uba7
Mouse Description:
ubiquitin-like modifier activating enzyme 7 Gene [Source:MGI Symbol;Acc:MGI:1349462]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa16823 | Essential Splice Site | Available for shipment | Available now |
sa16325 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa16823
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 |
---|---|---|---|---|---|
ENSDART00000087080 | Essential Splice Site | 152 | 1016 | 4 | 24 |
Genomic Location (Zv9):
Chromosome 6 (position 52905718)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 52954723 |
GRCz11 | 6 | 52953052 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CACTCAAACAATATAAAGTTTATTGTGGCTGACACCAGAGGACTYTGTGG[G/A]TAAGAAGCATCWCATGAATCAATACAMCACATCAATATTTATAGCGGTRC
Long Flanking Sequence:
CACAGTTTTATTTATAACTTATTTTTCAGGACACAAAAAAATCATAAAACATTAATTTGGCATTAATAAATGTTCAGCACCCGTGTAAACATCTGAAATATTTATTTGACATGTACTGACAAGTCTATACCAACTTCATCTGCAGTTAAGAGAGCAGCACAAAGCAATAGACTCATGATATCAGGTGAAAAGGGTCGATAAAAAGCGAAGATTTTAATAAATATAATAATTTACACACCATGCTATTATTGCATCCTTTTAATGTACAACAGTACTAAAGTGCAAAATGTATAAATCAGCCAATATAAAATATACAAAAATTAAATCAAATAGTTTTAACCCACTTTTAACTCTGTAACCCTTTTTTTGCATCCTATTTGTTTATCACTGAAGGTTGTGGTGCTCACAAGTTCACCTTTAGATGAGCAGCTACGTGTGGGAGCGTTTTGTCACTCAAACAATATAAAGTTTATTGTGGCTGACACCAGAGGACTCTGTGG[G/A]TAAGAAGCATCTCATGAATCAATACAACACATCAATATTTATAGCGGTGCTGGATATTATTCTGAGTTTTGTGTTTGGTTTGCAGGCAGTTGTTCTGTGACTTTGGCGAATCGTTTGAAGTCATTGACACAAATGGAGATCCTCCAGTTTCAGCCATGATTTCACATATCAGCAAGGTGACACAGGACATAAATCACGTTTCACTTTCACTTCTGTCCTCTTAAAGAAATACTCACCCACATGGCATTTAAAAATCAGTAATGCTTTCATTCATCATCAGAATACAGACGTTTTAATTCTGATCATTCTACCAAAAGATTAATGCTTCAAAATGTATAATGGCGTCCTTACTGTAAGCTTTAAGTTTAATTGTAGATGCAAATTTCAGCTTCTGTTAATGCTACATAATTTATTAGCTTCATGATTGCATGTATATGTTAGTAAAAACTTACTGTTATTATTGTAACAGTCTGAAGAAGGTCACTAAACATTTACTCGTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16325
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 |
---|---|---|---|---|---|
ENSDART00000087080 | Nonsense | 541 | 1016 | 14 | 24 |
Genomic Location (Zv9):
Chromosome 6 (position 52918003)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 52967008 |
GRCz11 | 6 | 52965337 |
KASP Assay ID:
2259-8205.1 (used for ordering genotyping assays)
KASP Sequence:
AACTTAACTAGCTGTCTTAACTTTTATTTTCCTTGTCCATTAGGGGTTTA[T/A]CTTGACCAATGTTGTGTGCGAAASAAAAAGCCCATGCTGGAGGGAGGAAC
Long Flanking Sequence:
ATTAAAACATTGTTTTCCAGCCGCGCTTCATTCTCAAAATGTATAGTTTGTCTAAAGTGATGCATATACACTGTATAGCATACTATGAGGAGGGACACAATCAGCCAGCACAGTCGTCTCTCCATAGTCAAAAGTGTCATTTTGTGTCTGTCGGGTTTTTTTTTTGCTTGTGGGAGCTCCACTGGAACTTCCCACATGTTAATTCTGACCAATCAAAAAGCAGTTTAGGAAATACCTTCAAAAACATCTGGCCAATGAATGATGTGGATTTTGTCACATGACTGCTTTTTGGTTCTTTTCAACTGGTTCGGACCAAAGCAATCAGTGTGGTGTGAAAAGGAACCAAAAATGGCAGAAAAATGCTACAATGTATAATTTGTTGCCCTTGATCCGAACCAAATGAACTGAACCACAGATGTGAAAGCACCCTACACCTAAAACAAGAAAGCAAACTTAACTAGCTGTCTTAACTTTTATTTTCCTTGTCCATTAGGGGTTTA[T/A]CTTGACCAATGTTGTGTGCGAAACAAAAAGCCCATGCTGGAGGGAGGAACTCTGGGTAGCAAAGGCCACACTATGGTTGTAGTGCCACGCCTGACCGAATCATACGGACTCTCCTCATCTGGAGGACAGAAAGCCATTCCCATCTGCACACTCAAGAACTTCCCTCACCGTATAGAGCACACACTACAGGTGAGAGGACAATTTTTACAATAAATGTATGATTTATTCCATTTTTGAGCAAAGCTGTCCTATGTTACTCCAAATACTGATTAAAGATCCATTCACACATACAGTATACTCTCAGAAATAAAGCTATGAGAGCTGTCACTGGGGCGGTATATTTTCTAAAGAAATACATTTTAGGACCATATTGGCACCTCAAAGGTAAAAAGTACAAAAGTTATCTCGGAGGTTCCAATATGGACCCTTTAAGGCACAAATGTGTACCTTTGTGTACACAATGATGGTACCTTTCATCCTGAAAACATAGAGCAATAGCG
Associated Phenotype:
Not determined