ZMP
stxbp1
Ensembl ID:
ZFIN ID:
Description:
syntaxin-binding protein 1 [Source:RefSeq peptide;Acc:NP_001020353]
Human Orthologue:
STXBP1
Human Description:
syntaxin binding protein 1 [Source:HGNC Symbol;Acc:11444]
Mouse Orthologue:
Stxbp1
Mouse Description:
syntaxin binding protein 1 Gene [Source:MGI Symbol;Acc:MGI:107363]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa43599 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa23888 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa43599
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:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000015629 | Essential Splice Site | 57 | 591 | 4 | 19 |
| ENSDART00000148199 | None | None | 126 | None | 5 |
Genomic Location (Zv9):
Chromosome 21 (position 12089549)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 13790723 |
| GRCz11 | 21 | 13887452 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCAACATGTTTTCCTGTGACTGACCTGTTGTTTGTACCTTCATCTCTGC[A/T]GTTGTTGAAGACATCATGAAACGGAGAGAACCTCTTCCCTCACTGGAGGC
Long Flanking Sequence:
TTAAGTTTATTTAACTTGCCGGTTTGGTAAATTATACTAAAATTGTTCAGATCAGTGTGTGTGTCTGTGTGTCTAACTATATACTATGAAAAAAATGTTTCAAAGAAAAATAAGTAGCCATTTATTCCCATTATAGTGAATAATTATACATGAAGCCTTGTTTTCTGATTAAAAAAAAAACCTAAAAGGTTGCACACATTAGAATCTGACAGTCAAGACTACATTAAAAACGACGATTTTTTTTTTAAGGGATTAATTGTGATTTTAAGCTTACTTTACTTAGAAAATCTTGAGCTTATGCATTTTCATTGTATATAAGTTATATTAACTCATAATTTTAGCTGACAGGACCAAAATGCCACATTTTAAGTAATGTTCAGTCAACTTTAGTTGATTTTTTAAGTAAATACAACATTAGGGTTTGCAGTGTAGAAGTACAGTAGGCAAAAGCTCAACATGTTTTCCTGTGACTGACCTGTTGTTTGTACCTTCATCTCTGC[A/T]GTTGTTGAAGACATCATGAAACGGAGAGAACCTCTTCCCTCACTGGAGGCCATTTACCTGATCACCCCAACTGACAAGGTACTCAAACACGATGCTAAATAAAATAAATAACAACTCTAGCCTAGACTTCAAGTGTGGAGTAAGAATCTTCACACTTTACACACTATACATACAGTACTGTGCAAAAGGCTGCTAGTATTTTCACAAAAAAACTAAGATTTATTGTCGGTTATTTCTATATTTTTCTGATTTGAAAAATACATTTACATTTCCAAAACATTATTTTGTCATTAATTGTAATTCTGACTACAGCCAGTGTTCTACACAGAGATCTTTTCTGATCATCATCCATTATGTCTGGAATGACTTACTAACTAAACTAAATCCAGAAGAACTCTGGCAACATCTCAAAGATGCTTCAACAAACGACCTGCAAAGCTACAGTACTGTTCTAAGTTTTAGGCACTTGCTGTACAAATGCTATAAAATGAGGACGCTTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23888
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 > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000015629 | Nonsense | 379 | 591 | 14 | 19 |
| ENSDART00000148199 | None | None | 126 | None | 5 |
Genomic Location (Zv9):
Chromosome 21 (position 12108230)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 13809404 |
| GRCz11 | 21 | 13906133 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGTTTTTCTCTCCAACACCTGGCAGGATCTCGCAATGGGAACAGATGCT[G/T]AGGGTGAGAAGATTAAAGACCCCATGAGGGCCATCGTGCCAATCTTGCTG
Long Flanking Sequence:
ACTACGAACAATTTAGCCTACCCAATTCATCTGTACCACATGTCTTTGGATTGTGGGGGAAACCGGAGCACCCGGAGGAAACCCACGCAAATGCAGAGAGAACATGCAAACTCCACACAGAAATGCCAGCTGACCCAGCCTAGGCTCGAACCAGCGACCTTCTTGCTGTGAGGCGACAGCACTACCTACTGCGCCACTGCGTCGCCCTGTCCTAATTAAAAGATTAAAAATCAAGGCATGATCATATTTTATTTTGGTAATCTAGAGGCCTTTGCCTTTCATATAAGCCACTTTTGATACCAAATGATCAACTAGAAGTCAAGCTATTATTTGTTGTTCCTGAAACTAGGCAACAAGACTTTTGTCAGGGAGTGTAGGCTTAAATTTGTTGTTATTGATACTGAATTGATCCTAAAGCATCAAGGTTGTGTTACATCTTAAGCATAATTTATGTTTTTCTCTCCAACACCTGGCAGGATCTCGCAATGGGAACAGATGCT[G/T]AGGGTGAGAAGATTAAAGACCCCATGAGGGCCATCGTGCCAATCTTGCTGGATGCCAATGTCACCACCTATGACAAGATCCGCATCATCCTGCTCTACATTTTCCTCAAGAACGGTTAGAAGATAGAGAGTTTCGGGCGGTGATTTTAAACCTCTGTTTGTGTTTTACAGCCATTTTGTAACATGTCTTCTGTGTGGTGAAACAGGGATCACGGAGGAAAACCTTAACAAGCTGATCCAGCATGCTCAGATCCCTCCTGAGGACAGTGAGATCATCACCAATATGGCTCACCTGGGCGTCCCCATCATCACAGACGTATGTTACCTTCTTCCTGGATGTTAATCGTTGTACTGATTACTGGTGTTAAATGTATTACTATTTTGATATGTATTCATACTGACATTTGAAACAATAATTCAATTCAATTCAATTCAGCTTTATTTGTATAGCGCTTTTACAATGTAGATTGTGTCAAAGCAGCTTCACATAAATGGTCATAG
Associated Phenotype:
Not determined