ZMP
AMBRA1 (2 of 2)
Ensembl ID:
Description:
autophagy/beclin-1 regulator 1 [Source:HGNC Symbol;Acc:25990]
Human Orthologue:
AMBRA1
Human Description:
autophagy/beclin-1 regulator 1 [Source:HGNC Symbol;Acc:25990]
Mouse Orthologue:
Ambra1
Mouse Description:
autophagy/beclin 1 regulator 1 Gene [Source:MGI Symbol;Acc:MGI:2443564]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa38008 | Nonsense | Available for shipment | Available now |
| sa10816 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa38008
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 |
|---|---|---|---|---|---|
| ENSDART00000104686 | Nonsense | 327 | 1360 | 6 | 18 |
Genomic Location (Zv9):
Chromosome 25 (position 8177377)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 7789901 |
| GRCz11 | 25 | 7913993 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TATTCACACAGAATCCGACAGGCCTCCAGCCTTCAGATTCGACACAACCA[C/T]AAACTCAGTCGGGTCCCTCTGCCTTCTCGCCCGCTCCTAGTCAGACTCGG
Long Flanking Sequence:
CTATTGTGAACCCATCAAACCAGCAGGTAAGGAGCGACCCATTTTACTGTCAAAATAGCTGTAAATACCTTTTTATTTCCCCCTTTTTTAAAAGTGATTATCATTTATATTACTAATGTTTTGCTGTGTTTTTGTAGAATGAAGATGACTCTGAGGTCCCCATGGATAGTATGGAGATGGCTTTGTTTCGGCAACGTTCCCTTTTACGCTCCCCGCCTGTACGTCGCACACCAATCCTGCACAATTTTCTCCACATCTTGTCCTCTCGCTCTTCAGGGGCACAGGCTAATGATCAGTCCCGCCCTGCACCAGAGCCCCGGGAGCCTCCCAGCATACCACGGTTCCAGTACCCTGTGCGGACAGAACCGGCTGACCGCCCTGCCTTACAGGGCTGCACGCAGCATTTGGGTCTGGGCTGCCTGTGCAGTCGCTGTGCTGCCTCACGGAATTTATTCACACAGAATCCGACAGGCCTCCAGCCTTCAGATTCGACACAACCA[C/T]AAACTCAGTCGGGTCCCTCTGCCTTCTCGCCCGCTCCTAGTCAGACTCGGACCTCGGACCGACCCTCTGCTTTTAGCAGTGTGTTTAGCGGGACTGCAGGGAACTCAGCACACCGGGGTCTTCTGCCTCTTAGGACTATTGATCCATTGGGATCACAGGTACCCAGCCATCTTGAGGCCCCTGGACGTCTCCCAGGGGCTGATTGGTCGGGTAGTCTGCTGAGCACAGGACATGAACATGGGTTGGGTGCCATTGGGGTAGAAACCAGCAGTGGAAGGGGTGTAGTTCCCCCTCCTAGGACGAGCTCCTCTTCTATGGATCTTCTTTCTTTGCGCAGGTTTCCCGATGGTTCTTCTTCATCACCTATATACACATCTGCAACTGAAGGCCGGGGCCTTGTGCTCCCTGGCACGGAGCCTAACCGGGGGCGACCCAATGATGGAACAAGTAGTGGTCACCACCCTTTTTATGACAACACTCAACGCAACAACCCCGCATCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10816
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 |
|---|---|---|---|---|---|
| ENSDART00000104686 | Essential Splice Site | 783 | 1360 | 8 | 18 |
Genomic Location (Zv9):
Chromosome 25 (position 8172795)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 7785319 |
| GRCz11 | 25 | 7909411 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCTTCCTCCGTGCCACCAGAGGCCAGTGATGGAGATTATGAAGACATCGA[G/A]TGAGTGTGACGATACTGACTTTATCTYAACTTCATGCTTCCGCACAGCTA
Long Flanking Sequence:
GTCTAGCTCCAGAGATCATCCCATATACCCTGATCCTGCCAGGTATACAAACACACTCCAGTTTCAGTCTGAACTTATCAATTCTGACTTTTATTCAACCAGCAAGTTTGTTTTTGACAGGAAATTACATGGGCTTCTCTCAAAAGATATAAAGACGATGTATAAGAGGCATCATTGTGGGAAAAAAAAAATTCTCAGCTTTTATTTGCATTGGAACAGAAGCTTTAAGTCTGAATTTGCCAGGGGTATGCAGGACTGTATAAACGCAGAGCTGATTTTGGTAGTTTGATCTCTGTTTCCCTTCCAATTCTCCTCAGGCTGTCTCCTGCTGCTTACTATGCTCAAAGGATGATCCAGTATTTGTCTCGGAGAGAAAGCATACGCCAGCGTTCCCTGCAGAATCGCCTGCGGACGCTCTCAAACTCTCAAGCCGACAGCCAGTCCAACAACCCTTCCTCCGTGCCACCAGAGGCCAGTGATGGAGATTATGAAGACATCGA[G/A]TGAGTGTGACGATACTGACTTTATCTCAACTTCATGCTTCCGCACAGCTATATTACCATGCAGTTTCAATTGCAGATATGCGAGCGTCTTTACTGTGTTCATCCTGTTGGTTTTGGGTTGTAATTATTATGTGGTTATTTTCCTTTTCTTTTACTTTCACAGGGAGCCTGGAGACAGGACAAGGCACCGAATGCCCCGCAACGCCCGAATGTCAGCCCCTTCTCTTGGACGCTTCGTCCCACGGTCAGTGTCAGATGTGACAAGTAATATTTATTGTTCGGTGCTACTGTTTAAGAGTTCGGGTTTTTTCTGTTTATAAAGCATTAAATAAAATTAAGAGACCACGTAAAAATTGTGTATTTATATTGAATATTTATATTGTATTGAATATTTATTCCACAATGTCTCAAAAAAATCCAAGCAAAATTAATTCTGTCAGAATTTCATCAAAATACTTTCAACTTGAATTATATTTTGTAATTAGTTGGCAAATAGATTAA
Associated Phenotype:
Not determined