ZMP
si:dkey-110c1.7
Ensembl ID:
ZFIN ID:
Description:
protein unc-13 homolog A [Source:RefSeq peptide;Acc:NP_001038630]
Human Orthologue:
UNC13A
Human Description:
unc-13 homolog A (C. elegans) [Source:HGNC Symbol;Acc:23150]
Mouse Orthologue:
Unc13a
Mouse Description:
unc-13 homolog A (C. elegans) Gene [Source:MGI Symbol;Acc:MGI:3051532]
Alleles
There are 8 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa24154 | Essential Splice Site, Splice Site | Available for shipment | Available now |
| sa17084 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa24154
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, Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000088603 | Essential Splice Site | 24 | 1742 | 1 | 40 |
| ENSDART00000135692 | Splice Site | None | 528 | None | 10 |
| ENSDART00000142748 | None | None | 1178 | None | 28 |
Genomic Location (Zv9):
Chromosome 22 (position 20513680)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 22 | 20170373 |
| GRCz11 | 22 | 20195351 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACACGTCTCTCTTTTACAGTGAAGAAAGCCAAGCTCGATGGACCACAAGG[T/C]AAGCCTGACATCTCACTGTAACTGATTTTCCACACATAACTTAAATATCT
Long Flanking Sequence:
AACAATAGAACCTTGGTACATTTTATCATGGTATCCATGGTATCTTGTTCAGGTTTTACAGAACATAAACGGTAGTACTTTTTTCTTTTAAAAACATTTCAGTACATAGGACTGTGTTAATAGATTGCTAAAATTTGTTCAGACTAAGAAATAAAAATGGGTCTTTTCAGAAATATTCATAAGAAATGTTCTTTTTGGAACCCAATCTGGTTCTTCTATGACTTCACTGTTAAAATCCTGTTTTGAAACTTTTATTTTTAAAAGTGTTTTTCCAAAATGTGTCTTATAACACTTACCCTGAAAGAAAATAAATAGCTGCAAAGTGGAGTCTAGGGCCTGGAGAAATTCCTCTCGCACAAATGCAAATATGCTGACATTGAATCTCAAATGCCCTGCCTGATATGTAAAGTGTGATTATTTTTAATGCGTATGTTTATCTCTTATTTACATACACGTCTCTCTTTTACAGTGAAGAAAGCCAAGCTCGATGGACCACAAGG[T/C]AAGCCTGACATCTCACTGTAACTGATTTTCCACACATAACTTAAATATCTATTGTGTTTATTCGGAAGTCTATTAAACTCCCTGATTTTCCATGCAGAGAAATTCAACACCTACGTGTCACTGAAGGTTCAAAATGTGAAAAGCACCACCATAGCTGTGCGAGGCAGTCAGCCATGTTGGGAACAGGACTTCATGTTGTGAGTTCTCTTTCTCTTTTGTGGTATAAAGAAGGGCCAGAAAAATCTTCAGAGAGAGAGTAAGCAGGCGTTCTTATGTAAATGTTTGGCTGATACATTGCATAGACAGGCTCCTGATGTGCATACATAATGCTTGTTCCCAAGTAGTAATGCTGAGAATGCAGTGATCTTGATCTGAATTGTGTTTAGCCACATTCCATAATATTGTGTAAATCTAAGCTCAAGGGCTAGAAACATACATGCATGGAATGTTTTGCACCTTAAGACTCAGCAGATAAAGAGATTTGAGAAAGGACTATTTGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17084
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 |
|---|---|---|---|---|---|
| ENSDART00000088603 | Nonsense | 1470 | 1742 | 35 | 40 |
| ENSDART00000135692 | None | None | 528 | None | 10 |
| ENSDART00000142748 | Nonsense | 906 | 1178 | 23 | 28 |
Genomic Location (Zv9):
Chromosome 22 (position 20548362)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 22 | 20205055 |
| GRCz11 | 22 | 20230033 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTCTGTTTCTCGCTTTTCCGTTTTGCTTTCCATCTTCCTTCAGGGCACT[C/T]AACTCATATTYAACGCAGCCAAGGAACTCGGTCAGCTTTCCAAGCTTAAG
Long Flanking Sequence:
GACTCCGGTGGCTATGCTGGTCTAAACGACAGCGTCAGAACTACTATACTAACTATTTCATTCTCCTAGAAGGACTACATTGTACACTTTTGTATAATGGTATAATAAGGTGCACACGCCTCATTCACTTAGTGATATATCCAAAGATTAGAGTATCGGCCAGTCATAGATACTAGATATATCACCAGAGTGTTGTTGTCCGGGCTGTGGACCTACTGGTTTTGTAAAACCTTTCAACTCCTGTCTCTGTCTTCTGTTTGTAGCTAGTGTCTTCTGTTGCACAAACAGTTGTGTGTCGACGAGTGGCTGTGTGTTTTGGGGTTGAGCGAGTGCGTGTCTGACGTTTGAGACTGTCTGTTTTTGACCTCTGTGATGTGATATTTCTGTCTACAACCCTGTCGAACCCAGTGATCTGACTAATGTCCTCTGTTCTCTTCTGTATCCTCTTTCTTTCTGTTTCTCGCTTTTCCGTTTTGCTTTCCATCTTCCTTCAGGGCACT[C/T]AACTCATATTTAACGCAGCCAAGGAACTCGGTCAGCTTTCCAAGCTTAAGGTAAGAAAGGTTGGATGCAGGCTAGTTAATAAAAATGTTGTATTCTGATTTAGTCATCAGTTTCTGTCTTTATTTATTTTCCTATTAATTAAACAGCAATGCAAAACACAGGTGCTATGATGAACTTAGCAAGGCCTTTGCAAGATTGTTGTTGTGTTTTCTGTATTTAATCAAAAATGTTGTTTCTGTAGGAGCACATGGTTCGTGAGGAGGCCAAGGCACTGTCGCCTAAACAGTGTGCAGTGATTGAGTTAGCGCTGGATACTATAAAGGTGAGGGAAGAACTCATTGTCAACATTATGGCTGCGTCCGAAATTGCATTATTTCATACTATACAGTACACTTAAAACAGTATGGGAGCTGAGTAGTATGTCCGAATTCAAATCATTCGAAACACAGTATGTAAGAAGTACCTGGACGACCTACTTCTTCTGGTAAGACTCTGAAGTA
Associated Phenotype:
Not determined