ZMP
BTBD2 (1 of 2)
Ensembl ID:
Description:
BTB (POZ) domain containing 2 [Source:HGNC Symbol;Acc:15504]
Human Orthologue:
BTBD2
Human Description:
BTB (POZ) domain containing 2 [Source:HGNC Symbol;Acc:15504]
Mouse Orthologue:
Btbd2
Mouse Description:
BTB (POZ) domain containing 2 Gene [Source:MGI Symbol;Acc:MGI:1933831]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa18657 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa18657
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 |
|---|---|---|---|---|---|
| ENSDART00000085917 | Essential Splice Site | 483 | 584 | 8 | 9 |
Genomic Location (Zv9):
Chromosome 2 (position 57014331)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 2 | 56999224 |
| GRCz11 | 2 | 57212446 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGATTTCCTCCAGMAACTGTAMAGACTGTGACGCTGTGTGTTTTATTTTC[A/T]GATCATTCACACYGACAGTAACACAGTWCTGGGTCAGAACGACACKGGTT
Long Flanking Sequence:
GGCCGCGCTGCTGTTTGCGGGGCAAAGAGTGCAGCATCACACGCTTCGGGCAGGTGGAAAGTCGCTGGGGCTACAGCGGGACCAGTGACCGGATCCGGTGAGAATACACCACCGTTAATACACAAACACTCTCAATATGGCATGGTATGATATCGATTAGCATTGTAACGAGTATGTAATGTGTGCTGTGCATATACTGTCCTGCTCAAAGGGTGAACTGAAGCTCTGTGTTTACAGGTTCTCTGTCAGCCGCAGGATATTTATTGTGGGCTTTGGGCTTTATGGATCCATACACGGACCTACAGACTATCAGGTCAACATACAGGTATGGCTGTCCAAAATTCATAAGCAATTTAAAACCAATGCAAGTTTTAAAAAAGGACACCCTAGCTTGTTATTTTTGACGCCACATAATGCTCTAAATGTTGTCCTTCCAGCACTGCAGTCCTGAGATTTCCTCCAGCAACTGTACAGACTGTGACGCTGTGTGTTTTATTTTC[A/T]GATCATTCACACTGACAGTAACACAGTTCTGGGTCAGAACGACACGGGTTTCAGCTGTGACGGGTCTGCAAACACATTCAGAGTCATGTTTAAGGAGCCAGTGGAGGTTCTGCCCAACGTCAACTACACCGCCTGTGCTACATTAAAGGTAAACAGCAGATAAATATTAATATAGTATGTCAGGGGATATGCAGGAATCCTAAAGATAATTTTAATACTTTTTATGTCCTTCTTTAAAAAGGATTGATAAATCAGCATCAAACCTTTAACTTAATAAACAGTTGTAGTTAAATCAATGAAGCTCAACCGTGCAACAGAACTCAGGAAAGCTTGGAAGAAAGAAACCTTGAAAGAGTAAATTACGTGGTTGTTTTCAGTGACAGGTCTCAGCCACTGTTTAAACTCCAACCAGGAGTACGCTAACTTGCATTATCCCATTTTGCCGTCTGTTTTGCTCTACAGCAGGGCTATTCAATTAGTCACGGGGACCAGTTCATGAA
Associated Phenotype:
Not determined