ZMP
LOC559451
Ensembl ID:
Human Orthologue:
ABTB2
Human Description:
ankyrin repeat and BTB (POZ) domain containing 2 [Source:HGNC Symbol;Acc:23842]
Mouse Orthologue:
Abtb2
Mouse Description:
ankyrin repeat and BTB (POZ) domain containing 2 Gene [Source:MGI Symbol;Acc:MGI:2139365]
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa13965 | Nonsense | Available for shipment | Available now |
sa21057 | Essential Splice Site | Available for shipment | Available now |
sa27042 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa34172 | Splice Site, Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa13965
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 |
---|---|---|---|---|---|
ENSDART00000083389 | Nonsense | 12 | 1007 | 1 | 17 |
Genomic Location (Zv9):
Chromosome 7 (position 50729881)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 49000117 |
GRCz11 | 7 | 49272893 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GATTCTACTAATAGACATGGCAGCTGTGAGCAATTCTACTATGAAGACTT[T/A]GGAGGATTTGACTCTAGACTCTGGATATGGAGCCGGCGACTCGTACAGGT
Long Flanking Sequence:
AGTTATATTGTGTTATTTAAAAACTGATATACTCTCTGCTAGACCAGTTTAGACTAACTAGTACATTTCTTTTAACAAACACATTATTAAAAATCAAATAAAATAGTTAATGTGTACATCAGTGCTGTGTTGTGTTTGAAATTCAAAGCAAACTCATTTAAAGCCTCAAACCTTTATCTGTCCTCACTTTCCTGCGCTCTTGCTCTTGCACTGCGCGAGCGCTGAGTGTGTCTGATTGGCTGAGCGAACACTGTCCTCTGATTGGTTCAAAGTTTTTGCTGTTAAAAGTTTCAATGACCAGCTGGGCTTTATACGGCGCTGGGTTGCCATTGCGGACAGACTGTACTCACAAACAAGCGATGGACGTGCGTTGAATTAAAACATTTTTTTTTTTTGCGCTCCATGTTTACTAAAATAATAATATTTGGAAAACGTGAAATAAGTCATTCTGATTCTACTAATAGACATGGCAGCTGTGAGCAATTCTACTATGAAGACTT[T/A]GGAGGATTTGACTCTAGACTCTGGATATGGAGCCGGCGACTCGTACAGGTCCCTCAGCCTGTCCTCCTCCAAATCCAACTCTCAGGCGCTGGTCAGCTCTCCACAGCGGGGCAACTGGTGGAGCTACACGGGCTCCATGAACAGCAGAAACAACAGCTGGGACACGGTCAACACGGTGCTTCCTGAAGACCCTGAGGACATCATCTCCAAATGCCCGAGACTACCAGAATTAGAGGAGTTCCCCTGGACAGACGAGGAGATCGATGTGGTCCTGCGTAAAGTTGCTGGAGAGGGTCTGTGTTTCGCTCCGGAGAGCGTCAGGAGTGTTTCGGTGCTAATGCGCAGAGCTTTACTGCGGATCTCCAGAGAGGCGCAGCGGTTGAGTGTGGTTCATTGCAGGTGCACGCGGTTCGAGGTGCAGAGCGCGATGAAGCTGGTCATGAGCTGGGCTTTGGCGGAAAGCTGCGTCTCGGCCGCGATTAGGGCCATCTCACTGTACA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21057
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:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000083389 | Essential Splice Site | 575 | 1007 | 8 | 17 |
ENSDART00000083389 | Essential Splice Site | 575 | 1007 | 8 | 17 |
Genomic Location (Zv9):
Chromosome 7 (position 50766791)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 49037027 |
GRCz11 | 7 | 49309803 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGATGACTGTGGCATGACTTTAGCATGCTAAATAACTTTGTTTGCATTTC[A/C]GCTGCTGTTAGATGTGGGAGCAGATGTGGAGGGCAGAGCCCTGAGAAACA
Long Flanking Sequence:
TTATTTTTTTATTTTTTTATCTTGGTGTGATCAGAGCTTAACTCTTGCATGATATTGGCACATCAGGGGCAAAATAAACACCCATCATCTAAGCCTTGTCCATGATCATTTTAGGCTGAAATTGTTGAATGGATGGCTTGCATTAATGTAACATTCTGAATATTCACACAAACAATATCCAGCAGAGTTTGGGTTGTTTACTAATATTAAATGACATTTTTATTTTGCTGTGTTCTTTTATTCAGGTACCCAACTGCTCACCCAAACACCCGTCTGTTCACCCTGAGAGTCGCAGCTGGGTGGCCCTCACCTTTGCAGTGCTGCATGGACACATATCTGTAGTGCAGGTGAACATGCTGCTCATGCTAATTGCATACAGTAGTATTACTGCGTTTAATCACTTAAGAGGGGTGATTACTGTACTGTACAGCTCTACGGTGTATACAAACTGGATGACTGTGGCATGACTTTAGCATGCTAAATAACTTTGTTTGCATTTC[A/G]GCTGCTGTTAGATGTGGGAGCAGATGTGGAGGGCAGAGCCCTGAGAAACAGCCACCACAGCTCTGCAGAAACACCCCTCCAGCTGGCATCAGCCTCAGGTGGGAAAAAAAAAACTGATTCAAAGTCATCCTTAACATGTGCTTTCTTTTAAATAGTTATGTTTGAATGTACTGTACTGTAACATAGAAAACCATGGCGGAGGCTATTTTCAGCCTTTTGAGAACAATAGTAGATACTGTAGATTTGTAGTAGAAAAATTAATAAATTTGGGATTAGGTTTTAAATGATACTATTCAAAATGACAGTAAAGAGATTTATAATGTTGTAAAAGTTTTTTTTTAAATAAATGCTGTTTTGACTTTACTGTTAAATAAAAATATATCCTGAAAACAAAAATATCTTCTTCTTATTAAAAAAAGAGGAATGATTCATGAGAACCATATAAGCATTATTATCCGAATGTCAAAATTATTCTAAAGAATCATACAACATTCACACCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa27042
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:
A > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000083389 | Essential Splice Site | 575 | 1007 | 8 | 17 |
ENSDART00000083389 | Essential Splice Site | 575 | 1007 | 8 | 17 |
Genomic Location (Zv9):
Chromosome 7 (position 50766791)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 49037027 |
GRCz11 | 7 | 49309803 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGATGACTGTGGCATGACTTTAGCATGCTAAATAACTTTGTTTGCATTTC[A/C]GCTGCTGTTAGATGTGGGAGCAGATGTGGAGGGCAGAGCCCTGAGAAACA
Long Flanking Sequence:
TTATTTTTTTATTTTTTTATCTTGGTGTGATCAGAGCTTAACTCTTGCATGATATTGGCACATCAGGGGCAAAATAAACACCCATCATCTAAGCCTTGTCCATGATCATTTTAGGCTGAAATTGTTGAATGGATGGCTTGCATTAATGTAACATTCTGAATATTCACACAAACAATATCCAGCAGAGTTTGGGTTGTTTACTAATATTAAATGACATTTTTATTTTGCTGTGTTCTTTTATTCAGGTACCCAACTGCTCACCCAAACACCCGTCTGTTCACCCTGAGAGTCGCAGCTGGGTGGCCCTCACCTTTGCAGTGCTGCATGGACACATATCTGTAGTGCAGGTGAACATGCTGCTCATGCTAATTGCATACAGTAGTATTACTGCGTTTAATCACTTAAGAGGGGTGATTACTGTACTGTACAGCTCTACGGTGTATACAAACTGGATGACTGTGGCATGACTTTAGCATGCTAAATAACTTTGTTTGCATTTC[A/C]GCTGCTGTTAGATGTGGGAGCAGATGTGGAGGGCAGAGCCCTGAGAAACAGCCACCACAGCTCTGCAGAAACACCCCTCCAGCTGGCATCAGCCTCAGGTGGGAAAAAAAAAACTGATTCAAAGTCATCCTTAACATGTGCTTTCTTTTAAATAGTTATGTTTGAATGTACTGTACTGTAACATAGAAAACCATGGCGGAGGCTATTTTCAGCCTTTTGAGAACAATAGTAGATACTGTAGATTTGTAGTAGAAAAATTAATAAATTTGGGATTAGGTTTTAAATGATACTATTCAAAATGACAGTAAAGAGATTTATAATGTTGTAAAAGTTTTTTTTTAAATAAATGCTGTTTTGACTTTACTGTTAAATAAAAATATATCCTGAAAACAAAAATATCTTCTTCTTATTAAAAAAAGAGGAATGATTCATGAGAACCATATAAGCATTATTATCCGAATGTCAAAATTATTCTAAAGAATCATACAACATTCACACCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa34172
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:
A > T
Consequence:
Splice Site, Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000083389 | Splice Site, Nonsense | 888 | 1007 | 14 | 17 |
Genomic Location (Zv9):
Chromosome 7 (position 50772434)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 49042670 |
GRCz11 | 7 | 49315446 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATCAGACCACATGGCTATCGAAATCACTGACATTAAATACAACACATTC[A/T]AGGTAATCATCAAATCTTGTCCTGATTATGCAAACGACTAGAATTTACTG
Long Flanking Sequence:
ATAATAGCTTTGACAAACATTTTGAAAGTGCAATTGATTATTACCTCTTGTTGAATTAGTGTTAATTTATCCCTTTTAAATATATAAGTACATTAATTCATTTATTTGTTCAATTGTTTGTTCGTTCATTCATTCGTAAATAGCTCAGATTCTTTATAATTCAGCTTTGAATAGTCATATTGTTAACATGTATCATTCTTTCTCCCTCAGATGCTCATTTTCTGAACAACTCTGAGATGTCTGATGTGATATTTGTGGTGGAAGGACGACCGTTTTATGCTCACAGAGTTCTACTCATGTCTGCGTCCCAGAGGTATGGCTCTTTCCCAAATGGATTTCAATGCATACCTTATAATAATGATTCCACAATTAATTATGCTGTACATATGCTCTTCTTTCTTTTTGTATATAGGTTTAGAGACTTGCTGAGTCTCTATCAAAGCAATGGCACATCAGACCACATGGCTATCGAAATCACTGACATTAAATACAACACATTC[A/T]AGGTAATCATCAAATCTTGTCCTGATTATGCAAACGACTAGAATTTACTGTACAAATTAATGACACTAAATTGCCTTCTGATTTTAGATGATGATGGCACATCTGTACTGTGGAGGAGCTGAATGTTTAGATGTTTCTGCGTCTGATTTGCTGAAGGTAAAAAACACGTGTACACAGGGCTAAAAATAAACATTCAATAAAACATTCAGCTTCGGAGAGTATGTGAAACAGGGTTACTTGCTAACTTTGTATCACATTCACTATGAGACTTATTGAAATGATGTAAATATGTTAACAGAACTGTAAGCTTAACATGAAGCTGTTTTATTTGCTGCAAAAGCTTTTGAAAATACACACATACTGTAGATGCTTTAGAAATCTGTTTTCATCAAAAGAAAAAGCTATTAAACACATCTTTCCCTGTGGCTCTTTCAAAAAAAAAAAAAAACTATTTAAAAAATCTCTAATAATAATAATTCTTAAGGGGACTAATAATATTG
Associated Phenotype:
Not determined