ZMP
bap1
Ensembl ID:
ZFIN ID:
Description:
Ubiquitin carboxyl-terminal hydrolase BAP1 [Source:UniProtKB/Swiss-Prot;Acc:A1L2G3]
Human Orthologue:
BAP1
Human Description:
BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) [Source:HGNC Symbol;Acc:950]
Mouse Orthologue:
Bap1
Mouse Description:
Brca1 associated protein 1 Gene [Source:MGI Symbol;Acc:MGI:1206586]
Alleles
There are 6 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa24088 | Essential Splice Site | Available for shipment | Available now |
sa24087 | Essential Splice Site | Available for shipment | Available now |
sa24086 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa24088
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 |
---|---|---|---|---|---|
ENSDART00000091757 | Essential Splice Site | 41 | 724 | None | 17 |
ENSDART00000091774 | Essential Splice Site | 41 | 278 | None | 8 |
ENSDART00000091777 | Essential Splice Site | 41 | 755 | None | 17 |
Genomic Location (Zv9):
Chromosome 22 (position 10712820)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 22 | 10572988 |
GRCz11 | 22 | 10602670 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AATATAAGCGCTGTATATTTCATGTAACCTTCCTACATTTTCTTTTTCTC[A/G]GTCCTGTATATGGCTTCATCTTTCTTTTCAAATGGATCGAGGAGCGAAGA
Long Flanking Sequence:
TTAAAATATACAATGGCCAGACAGAATCTGTGATCATTTTTTGCTATTTCTGCGGAGAAGTTTTCTAAAAAATCTGCAGATTTATTTTGGGAGTATCGTAACTAAAAAAAAATTATATATATATAAAAAAAATAGAAGCTTTTTAACTTATATTTAATCTTTACAACGCAAATCCATCTAGATCTATCATATAATATATCAACTAAATATTCATTTACAAACTGTATTGTAAATAAATCATATGAACATTTTCATATTAGACAATAATATTACTGAAATCAACTTAAAAACTGAATAAATATAAATGTACACACATTTACACAAGTAAATAAACTACTTAATACTTGCAAACTGTACAGAAAATTCTAATCAAATGATCATAACTGCTTTGATTTCTTGTTTATAAAGTGATCATTTAAATATATATGTAAAAGCAAAACATATATGTGAAATATAAGCGCTGTATATTTCATGTAACCTTCCTACATTTTCTTTTTCTC[A/G]GTCCTGTATATGGCTTCATCTTTCTTTTCAAATGGATCGAGGAGCGAAGATCTCGGCGTAAAGTCTCCACACTGGTGGATGAAACCTCTGTTATCGATGACGACATTGTTAATGACATGTTTTTCGCTCATCAGGTTAGTCTGTAGAATAGTTTTTTGTCTATACAACAAAATGAAGCCTTAACCCTTATTTCAAGATTGTGTTGTAATCCTAATAAGCACCAAACAAGGTCTGAGGCCATTAAAAAAGGGGTCTCAGTCTGCATGTTTGGTACAAGCCAATGATTGGATTTACACTTAGCTAAAGGAACCACACGGACAAAACAACTGCAGTTTACTAACATTTATTTCTCAGGCTTTTCAGCAAAACCTACAGTGTGTTTGTCGGTTGTTGTGTGCAGTTGATCCCGAACTCCTGTGCGACTCATGCTCTTCTCAGCGTGCTCCTGAACTGCAGCGGTGTGGAGCTGGGAATGACTCTGAGCCGCATGAAGGCTTTCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24087
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 |
---|---|---|---|---|---|
ENSDART00000091757 | Essential Splice Site | 551 | 724 | 13 | 17 |
ENSDART00000091774 | Essential Splice Site | 260 | 278 | 6 | 8 |
ENSDART00000091777 | Essential Splice Site | 582 | 755 | 13 | 17 |
Genomic Location (Zv9):
Chromosome 22 (position 10703946)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 22 | 10564114 |
GRCz11 | 22 | 10593796 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACAGCTCCAACTGCAAGAGGATGGAGTCATATTTGCCCTGCCACCTACAG[G/A]TACGCATTCAAAACTACAAGATTTAACTAGAGATGCACTGATTGACAAAC
Long Flanking Sequence:
TAGCAGGGTTCGAAGAAAGTTGGGTCTGCGTACCCGTACCATGAGCCGCACTGCAGTGGGCGGAGTCGCAGCAATGGAGGGTCAACTAGCACTCAGTGTTTTAGCAGAGAAGCTCAAGAAGGAGGTTCAGCGGAAAGACGCCTTGGCCACAACTGGATCCACACCTCTGAACGTACGTACCGAGGGTCGGACAGGTGGCATCAGCATCACCTCGGCTTGCCAGCCGTCGCCCACCCCTAGTAACGAAAGCACGGACACAGCCTCCGAGATTGGTAGTGCATTCAACTCCCCACTGCGGTCACCAGCTCGATCACAGGCGACTACACGTCCCTCCAGCCCAGTGGCTTCCCATGTAGGCCGCGTGCTGTTTGGGGAAGAGGAGGGGCTGCCTAGGTTAGATGCCCGACACAATCGGGCTGTCCGAGACTTGGGGGTGCTCGTGAGCTCAACACAGCTCCAACTGCAAGAGGATGGAGTCATATTTGCCCTGCCACCTACAG[G/A]TACGCATTCAAAACTACAAGATTTAACTAGAGATGCACTGATTGACAAACTAAGGACTGTCATTTTTGCTTGCCCCGTGATCATCTGGAAAGTTCCAGCTGAACTGAAGCTAACTTTGATCTCATTTGACAGAAGCATTGGAGGGGTTGAAGAAAGTGGGTGGTGTGGATAAGAAGAAGAAAGAAGAGGCGAGTGGTCCAGGAGGGGAGGAGGAGGTGAAGGAGGGACCATCAGTGGAGATGAAAGCAGAGGACGTCAAAGAGTCAGTTGACGTCAAACCTGAGAAGGAGAACCTGCCGACCACTGATGTTGAGAACAGCACCAAACCTCCTGGGGAAAAATACACTCCTAAGGTAAGACGGTGACCGTTTATTTGTCAAATCATGGTTAAATTACGCGATGTCACATAGAAGGGTTTCTCTCAAACAGGAGTTGCTAGCTTTGCTGAAGTATGTGGAAGCAGATATCGCCAACTACGAAGTGTATTTGAAAGAAGAAGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24086
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 > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091757 | Essential Splice Site | 657 | 724 | 16 | 17 |
ENSDART00000091774 | None | None | 278 | None | 8 |
ENSDART00000091777 | Essential Splice Site | 688 | 755 | 16 | 17 |
Genomic Location (Zv9):
Chromosome 22 (position 10703355)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 22 | 10563523 |
GRCz11 | 22 | 10593205 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACAGGATTTTGTCCTCAAAGTATGGAATGAGCTTATTGAGATATGTTTTC[A/T]GATTGATGACCAGAGGAGGACTCATAACTATGACGAGTTTATCTGCACCT
Long Flanking Sequence:
AGTTCCAGCTGAACTGAAGCTAACTTTGATCTCATTTGACAGAAGCATTGGAGGGGTTGAAGAAAGTGGGTGGTGTGGATAAGAAGAAGAAAGAAGAGGCGAGTGGTCCAGGAGGGGAGGAGGAGGTGAAGGAGGGACCATCAGTGGAGATGAAAGCAGAGGACGTCAAAGAGTCAGTTGACGTCAAACCTGAGAAGGAGAACCTGCCGACCACTGATGTTGAGAACAGCACCAAACCTCCTGGGGAAAAATACACTCCTAAGGTAAGACGGTGACCGTTTATTTGTCAAATCATGGTTAAATTACGCGATGTCACATAGAAGGGTTTCTCTCAAACAGGAGTTGCTAGCTTTGCTGAAGTATGTGGAAGCAGATATCGCCAACTACGAAGTGTATTTGAAAGAAGAAGTGGAAAAAAGGAAGAAGTACAAGGTAGGTGATTGATTCCTCACAGGATTTTGTCCTCAAAGTATGGAATGAGCTTATTGAGATATGTTTTC[A/T]GATTGATGACCAGAGGAGGACTCATAACTATGACGAGTTTATCTGCACCTTCATATCAATGCTTGCACAAGAAGGTAAAAAAAAACATTAATTCTTCCACAGAACACAAAAATAAGATATTTTTGAATAAGATATATTCATGATGGCAGTGGGAACATTCTGCTAAATATCTCCTAGTGAGTTTTAATAATTGTTTTCAGTAAATTAATATTATGAAAGTCAATGGATTTTCAATATACCATCTTTTCTGTTCATCACAAGAAATAAACTGAAATATGTTTCAAACAAGCAAAGTGTCAGTAAATAATAATCGATTAATATTTTGGGTGAACTATCCCTTTAGCAAGCTATGAGTTGCACCAAAATGAACTTAAATACATTTTCAGTCAATTATTTTATTGTAATCAAATGTGCCTTTGGTGGTTTGCAGGTATGTTGGCGAGTCTGGTGGAGCAGAACATCTCTGTGCGTCGGCGACAAGGCGTAAGCATCGGTCGGCT
Associated Phenotype:
Not determined