ZMP
LOC100332642
Ensembl ID:
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 7 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa11767 | Essential Splice Site | Available for shipment | Available now |
sa21027 | Nonsense | Available for shipment | Available now |
sa10425 | Nonsense | Available for shipment | Available now |
sa40965 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa14147 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa11767
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000098033 | Essential Splice Site | 64 | 1194 | 2 | 18 |
Genomic Location (Zv9):
Chromosome 7 (position 40747375)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 39083632 |
GRCz11 | 7 | 39354649 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TACCAGACAGTCCCCGCTCAACCTYTCTGCTAGCCTTTAGTCCGGACAGG[T/C]AAGACCACTTTGATTACACTTTCATACTCAGGCTTGRCCAAAGGAAWCTA
Long Flanking Sequence:
TCATGTCAAGTTTGTTTTTATAGATCACAACTTGCATGGGCATAGTTGTATGCATATTCCCACCTGTTTTGTGTGTATGCCACATTTATAAATGAAACCCTTATCAAAAAGACTTGCTTTCATCACGAACCATAATTTTAACTGTAATTAATTTTACAGATAACTGTTAACATCCAAACCAATGCATGATAAACTGCTTATTAAAAGCTCATGCTGCAGCAATAATGTGTGACACTGAGGCTTTCACATGGTTGTGAAAGTGATTCAAGTGATATAGTTCTCTGTGGTTTGGACTTCCCTATTTTTGCAGAATTAAAATGAATATTGAAACTTTATGGTTAGAGATGAAGCCCTGATAATAGTCATTAACTTGGTTGTGATCAGATTTTATTATAGTATGAATGTGACTGAAGGAAATATTTTTTCTTTTGCTACCACAGAAAGTAGAGTTACCAGACAGTCCCCGCTCAACCTTTCTGCTAGCCTTTAGTCCGGACAGG[T/C]AAGACCACTTTGATTACACTTTCATACTCAGGCTTGACCAAAGGAATCTACAGTATGTAGATTGATTTGATAAAACTCACCCTCTAATTATGCCTTTTTGATCAGGGCTTGTCATCAAGCTAATAAAGTTTTTTTTTTTTTTTTTTGTCATTTGTGTTTTTCTAGGTCTTTAATGGCTTCCACACATGTGAACCATAACATCTACATCACTGAGGTTAAATCAGGAAAGTGTGTTCATTCATTGGTGGGCCATCGCAGGACACCCTGGTGTCTAACTTTTCACCCTATCATCCCTGGGCTTATTGCTTCTGGCTGCCTGGACGGAGAGGTCAGAATCTGGGACCTACATGTAAGTATTGATTTTACTAATATTGAAGGATTGCTGTTAGTTTGTTTTTAATTCTTTCTCTGTAGATATATTACGGCAACTTTTGCACCAAAATTAAGGTCTTTTTTTGTTCCAGGGTGGCAGTGAAAGCTGGCTTACAGAGAGTAACTCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21027
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 |
---|---|---|---|---|---|
ENSDART00000098033 | Nonsense | 406 | 1194 | 6 | 18 |
Genomic Location (Zv9):
Chromosome 7 (position 40744987)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 39081244 |
GRCz11 | 7 | 39352261 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGACTGGACAGTCAGTGGACTTAATGGACAAAGCAGTAGTATGACTCCA[C/T]AAAGAACTGGCGCTTCCTCTGTTAGCCTTCTTTCTGTCCTGCGACAGCAA
Long Flanking Sequence:
TGCACAATTTCTTGCACATCCTCACTTCCCGCAACTCTGTTCCTCAGGCTGGAGGTGCCCATTCTGCTTCCACTGATGGGTCCTCCGATTCTTCTGGCCCTTACACTCTTATGTGCGTTCAGCCGCTTGGAATGGTGTGTTTTTGTAGCCGTTGCTCTGCAGCACGAGTTCCATCTCCACCTGATGAGGACCCTTCAGACTCGGCATCCCTGGAGGCACAAGCTCACACCTTTTCTTCTGCACGCACAGAGCCACTGCAGATGTCACGGTTTTCTGTTGAGTCTCGTGCTGCAAATCGCTCCTCTGCATTCAGCAGCGTGTATGGTGGAGGCAGCAACATGCGGAATCATTCTTCCAGCTCTGGCAGGAGGGGAGTGACTGGAATGGCACCTGTCCCGCATTTCCGACAACATCCACCAGGTAGGGAAGGTGGAGGACGTCACCCTGGAGCAGACTGGACAGTCAGTGGACTTAATGGACAAAGCAGTAGTATGACTCCA[C/T]AAAGAACTGGCGCTTCCTCTGTTAGCCTTCTTTCTGTCCTGCGACAGCAAGAGACTTCCTTTCAATCACCTGTTTACACTTCTGCTAGTGATAGATGGGGCAGCACACCGGGAACTAGTTCCAGCAGGCACCGTCCTCCAGAAGAAGAGGGACAGAGCAGCTCCTCTTCCATCCACAGTGTCCTGCGTTGTAACCTTTACCGCTATTTTATGGATTATGAGGGAACGCAGGACACGGTCCAGCCTCTTGATGGCAGCAGACAGGACCAGCAGACTCAGGAAATGCTCAACAACAACATGGACCCAGAGCAACCAGGACCATCTCATTACCAGTCACCCTATAGCGGTGAAAACCCTCCCCACAGTCACATGAACCGCTGTAGAGTATGCCACAATCTTTTCACCTACAATCAGGGTAGCCGGCGCTGGGACAGAACAGGTCAGCCTTCATCTACTGAGAGAAACACACCATGGCAACCTTCTAGTTCTGCCTTCCACAGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10425
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 |
---|---|---|---|---|---|
ENSDART00000098033 | Nonsense | 421 | 1194 | 6 | 18 |
ENSDART00000098033 | Nonsense | 421 | 1194 | 6 | 18 |
Genomic Location (Zv9):
Chromosome 7 (position 40744942)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 39081199 |
GRCz11 | 7 | 39352216 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTCCACAAAGAACTGGCGCTTCCTCTGTTAGCCTTCTTTCTGTCCTGCGA[C/T]AGCAAGAGACTTCCTTTCAATCACCTGTTTACACTTCTGCTAKTGATAGA
Long Flanking Sequence:
AGGCTGGAGGTGCCCATTCTGCTTCCACTGATGGGTCCTCCGATTCTTCTGGCCCTTACACTCTTATGTGCGTTCAGCCGCTTGGAATGGTGTGTTTTTGTAGCCGTTGCTCTGCAGCACGAGTTCCATCTCCACCTGATGAGGACCCTTCAGACTCGGCATCCCTGGAGGCACAAGCTCACACCTTTTCTTCTGCACGCACAGAGCCACTGCAGATGTCACGGTTTTCTGTTGAGTCTCGTGCTGCAAATCGCTCCTCTGCATTCAGCAGCGTGTATGGTGGAGGCAGCAACATGCGGAATCATTCTTCCAGCTCTGGCAGGAGGGGAGTGACTGGAATGGCACCTGTCCCGCATTTCCGACAACATCCACCAGGTAGGGAAGGTGGAGGACGTCACCCTGGAGCAGACTGGACAGTCAGTGGACTTAATGGACAAAGCAGTAGTATGACTCCACAAAGAACTGGCGCTTCCTCTGTTAGCCTTCTTTCTGTCCTGCGA[C/T]AGCAAGAGACTTCCTTTCAATCACCTGTTTACACTTCTGCTAGTGATAGATGGGGCAGCACACCGGGAACTAGTTCCAGCAGGCACCGTCCTCCAGAAGAAGAGGGACAGAGCAGCTCCTCTTCCATCCACAGTGTCCTGCGTTGTAACCTTTACCGCTATTTTATGGATTATGAGGGAACGCAGGACACGGTCCAGCCTCTTGATGGCAGCAGACAGGACCAGCAGACTCAGGAAATGCTCAACAACAACATGGACCCAGAGCAACCAGGACCATCTCATTACCAGTCACCCTATAGCGGTGAAAACCCTCCCCACAGTCACATGAACCGCTGTAGAGTATGCCACAATCTTTTCACCTACAATCAGGGTAGCCGGCGCTGGGACAGAACAGGTCAGCCTTCATCTACTGAGAGAAACACACCATGGCAACCTTCTAGTTCTGCCTTCCACAGCGTAGCTCCAGTTTCACAATCTAATGAACACCTACTGGAACACAGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa40965
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000098033 | Nonsense | 687 | 1194 | 7 | 18 |
Genomic Location (Zv9):
Chromosome 7 (position 40736849)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 39073106 |
GRCz11 | 7 | 39344123 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGTCTCTTTCGAGAAATGGCACCTCTGGGTCACGAGACCACCCCATCTA[T/A]CCCGACCCAGCCAGGTGAAGCCGTGTGTTTGTGTATGTGTGTGAACAGCA
Long Flanking Sequence:
TGTGCCCTGCCAGTCCAAGAAGGCATGCTTTGGACTCGGCCTCCTCTCTTAATGGCCTTCAGCAAACTCTCCGTTGTATGAGGAATAGCACAAACCCAGACTTAACAAATACCCCGATTTAATGGGTTATTAACCAATTCCTGGCCAAGCCTGGCAGAGCTCACATCATTACTTACACATTATATTCATTTAGCCTTCACATAACAGTCGGTAATGAGCATACTAATGTCCTTGTGCAGTTTAATGAGATTTTTAATGATTGTGATGCTGCTCGGTGGGGAGTGTTACTGTAGAAACCGAATGGTGGAAATTGGAAGAAATGTGTCTTCTTCATTTTTGTTTGACGTCCTCTCCAAAAATTCTTAATCTGGACAGGAAGTGCTTTGCAACTTCAAAACAAACAAAAGCAATGCAATTCTCTTTTGTAGGAGGCTGCTGGAGTCGTCCATGATGTCTCTTTCGAGAAATGGCACCTCTGGGTCACGAGACCACCCCATCTA[T/A]CCCGACCCAGCCAGGTGAAGCCGTGTGTTTGTGTATGTGTGTGAACAGCATTTCACCGTCATGCCGCTTGGACGGTGAGGTCTGGGTAATGAGAACGAGTGTGTGTTATGCTTCCGGACAGTAGTGTGACATTTCAGACTCACCAACACCCCTGTGTCCCCTTAATTCAAACATGCACACACAGCCTGTCAGCATCCTCGGACTTTGTGTGTAAGGCTCATAATAACGTGAGTTCATGGCTAGTGAGTCATTGTTGAGCTCTGGGGAATCAGCAGTGGTTCGGGATCAAGACAGATTGTTAGCGCAGACTCCCGCTGGCTGGTTCGCACAAACACACGGACCGACGCGCACCTCTAACCTGTGAATTACCACAACAGACTCATTTCCCCCAGAGCAGAATGTACCTGGTGTTAGAAGCCATCTGAGCAGAGGGTTAGTCTGACTCCGGCAGGAGTAATTGCTGCTATATGACACTGTTGTTTCCCGCATCTTTCTCTGTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14147
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 |
---|---|---|---|---|---|
ENSDART00000098033 | Nonsense | 1054 | 1194 | 16 | 18 |
Genomic Location (Zv9):
Chromosome 7 (position 40673404)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 39009661 |
GRCz11 | 7 | 39280909 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTCATCCTGCTGTGGGATGTGTCATGTTTTGCAGGAGCAGCAGGACTGAT[C/T]GACGGTCACGCAGAGACATAGGCCTGATGAATGGAGTTGGTCTGCAGCCA
Long Flanking Sequence:
TTTGCTTATCCCACAGAGGAATAAAACGCATTGGAATGACACAAGGTCGAGAAAACAGTCATAGAAATTAATGTGTTTTTGGATGAACTATCCCTGAACTGCCTGTGTAATTGTTCAAGGAGGCATTGTTTGGTTTGCTAGCATTGTGCTTGTGTTGTTTTCTCCTGCGGATAAATTACTGCTGCTTGTATTATTCTCAAGTTGTTGTGGGTGAAAGGGTCTGCTAATTATATGCCACTGTTGAACGTCCTCACTTATCCAGCTTTCATGAAAGAAAACAACATTGTGTCAGGAAGGATTTAGCATTGTCTAGCAAGTACTTCTACTGACACGTGTCTTCTTACATCTAGAGCTCCTTCAGCCTTGTGCAGAACTTAACTTTGTTTTGTCAGATTAGACAGGACTGGCCTGAGGACTGTGATAATGTTGTAAGATTGGCTGTAGTGGTCACTCATCCTGCTGTGGGATGTGTCATGTTTTGCAGGAGCAGCAGGACTGAT[C/T]GACGGTCACGCAGAGACATAGGCCTGATGAATGGAGTTGGTCTGCAGCCACAACCTCCCGCCGCTAGTGTTACATCACAGGGGACGCAGACACAGAACCAGCGACTACAGCATGCAGAGACACAGACCGACCGCGATCTTCCAGATGACCCCCAGCAGCCCAGCACTTCTCAGGGGTCACAGGTCACTGATGGTAAGACACTCTCTGTGAATCAGATTTTATGAATGAGCTTGGGTGAGTGAAGTCCATCTGTGATTAAATTTACACTTCATTGTTCTAAATTATTGTCTCTTTCTGAATGCAAAAATATGCAGCAATTTAAGTACATTTGCTATACTCTGTATGCAGATTCCAGCTGTAATGTTTATATTGTATATACCCTAAACCATGTCATCTTATTATGATATCTGTTTACATGTACATTTTGTGCAAGAAATATATTTTAGTGTCAGTGTTTCCATAGCAACAAGCTGGTGTCTGTGCTTCTGTCAGAAAAAAAA
Associated Phenotype:
Not determined