ZMP
LOC568340
Ensembl ID:
Human Orthologue:
MBTD1
Human Description:
mbt domain containing 1 [Source:HGNC Symbol;Acc:19866]
Mouse Orthologue:
Mbtd1
Mouse Description:
mbt domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:2143977]
Alleles
There is 1 allele of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa22144 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa22144
Status:
Available for shipment
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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 |
---|---|---|---|---|---|
ENSDART00000086087 | Essential Splice Site | 158 | 705 | 4 | 17 |
Genomic Location (Zv9):
Chromosome 12 (position 35049420)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 33453529 |
GRCz11 | 12 | 33554512 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TATGCACAGTATCAAGCAAGTCAACAGAACCAAGCTAAATCAAAATCAGG[T/C]AAAATGGCTTATTTTAGTGTTGTTATGTAATTATATGCCTGAATGATCTG
Long Flanking Sequence:
CTACATAAATTATTTGTAAAACTTAAAAATGTCTTTACTATTGATCAATGATTGATACTACGATCAATGCTGTTATTTTACATAAAAATATATCATGGTTTCTACAAAAAAAAAATATAACTGTTTAAATACAAGTACTATTTTTCATGGCTTACCAGTGAGAGGACAAGAATGTGAATGGCAGTGTGTGATGTTTTACAGATTTTACACTATTACATTTGCTCAATAGATTATCAGATATGTGTAGATATTATTGAAAGCCTAAAAGCCTTTAGATTTAGAACAAAGTTCAAAGGAAACATAATCAAAACGTGCTGTTGTTCCTTCTTTTTCTCTCTGTCTGTATTTTTAAGATTGTGTGGGTTCTTCTTGTGTCTTTTCAAGGGTAAACCACCAACGAAAAAGGCAAAAGTCTTACAGAAACAGCCGTTAATGGCAAAGTTGGCAGCTTATGCACAGTATCAAGCAAGTCAACAGAACCAAGCTAAATCAAAATCAGG[T/C]AAAATGGCTTATTTTAGTGTTGTTATGTAATTATATGCCTGAATGATCTGTTCTAGCAATCATATTCCACAACACCATTTTTTTTCCTCTTGAAGTGGTTCCTGTTGAAGGCTTTGACTGGGGCCAGTACATTTGTAGCAATAATTTAGTTGGGGCACCAGTCAGCTGTTTCAAACATGTGAGTTGAAATCGGCAGAACATTTATCATTTTTGTCACCGTAATTGTGTTTCTTAAAAGCCCATGTTATAAATGTTCTGTTAATGATTTGACAACTCTTTCAGGTGCCCATGGGTATGTGCTGGGGTGACATAGCTGAGGGGCTGAGGGTGGAGGTCTTCAATTCTGACACAAACCTCTCCACAAAAGTTTACTGGGTAGCAGAGATTGTCAAACTGGCAGGTACTGTTGATTCCAGTCTCTACCTACAATTTTTTATGGTTTGTTATAAATGAGAAGGGTATATGATTTATTTTATCCTCCTCAGGTTTTAAAGCTCTTC
Associated Phenotype:
Not determined