ZMP
ENSDARG00000088061
Ensembl ID:
Human Orthologue:
STXBP4
Human Description:
syntaxin binding protein 4 [Source:HGNC Symbol;Acc:19694]
Mouse Orthologue:
Stxbp4
Mouse Description:
syntaxin binding protein 4 Gene [Source:MGI Symbol;Acc:MGI:1342296]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa33246 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa38403 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa25256 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa33246
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:
T > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000123009 | Essential Splice Site | 455 | 709 | 14 | 22 |
Genomic Location (Zv9):
Chromosome 3 (position 36618852)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 36430252 |
GRCz11 | 3 | 36572110 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTACCAGGAAGCAGCTAGTTTGATGGACACCTCTGCCTTTCATTCCCCAG[T/G]AAGTACAACTGTACAATTTCGCATTGCTGTGCTTGACTGTGACACAGACT
Long Flanking Sequence:
GTTTTGAGATATACAGAAATACAAAAAATACAAAGTATTATCTATTTAATGAGTGTGAATCATGACTTTCTGATTAATATTGACAAGATTAATGCACCAAAAAAAGTTTAAAAACACGAGTGCGCAGTGCAAACTTCATTGCTCAGTCTAGATTATAATAAAATCAAATGAATTGTTACCATTTTAATGTTTTACTGTATTTTAAACCTTAGTGTGTTTATTAAAACATTTTTAAAACTCTTAGTGTTTCCAATTAATCGAAATTCCAAATTTTTGACTGATAATGTGAGGATTTTGATGTTTTCTTCTATGCAGTTTGTTCTAATACTATTCTTTACTATGGCTGATTTTGCCTTTGTTTCTGTGTTTAGACTTTGTGGAGGCCACACGCAGTGTCTATCAGGAGAAGCTGGAGGAGGTGGGCTTGGGACAGGGACCGTTTATGTTCTCCTACCAGGAAGCAGCTAGTTTGATGGACACCTCTGCCTTTCATTCCCCAG[T/G]AAGTACAACTGTACAATTTCGCATTGCTGTGCTTGACTGTGACACAGACTAAAACTATCCTCACAGCACCTCCTCACATTATTGAGACTTCACTTTTTCCTGGAGTTGAGCGCGTCTGAAGATTTACCCAGCGTTCTTAAAGGAGCTTTTCTGCTGCTCAGGAAAGTTATCAAAGCTGTCCTTTAAGCTCTTAAACACTTCAATTGTCAGAGTTTGGATTTGTCTCATACTAATATGTAACCACTCAACTGCCTCTGGTCTTAAAGTGCCCCATAATGTGATTTATCTATAAACATTACCTTTCAATCAGTGCATAATGAAGTTGTTTGTCAATGTAAAAGGTCTGCAAAGTGTTAAAGATCATATGCATAGGGATAAGTGAAGTTATTGTCTTTTAAAAAAGAGTTGATTCTACTGTTTATATTACTAAATGCTAAAAAGCTTGCATACACTAAAATCTGTTACTTGTGCATACATATCTATGAAACTCTTTCACACAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38403
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000123009 | Nonsense | 533 | 709 | 17 | 22 |
Genomic Location (Zv9):
Chromosome 3 (position 36615969)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 36433135 |
GRCz11 | 3 | 36574993 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGAATAAGTGTCTGAAGAGTAAACTGCAGGTGGCAGAAGCTGTGCAGAGA[C/T]AGACCAACAGTGCAGAGCAGGACTATGAGGAGGTCATTCAGCTCCTGGAG
Long Flanking Sequence:
AGACGTTTTGATGAATAAATCATAAAACATATTTAAAGTATAGATATTTTGTATTCTGTATATCCCAGATCTTAAACTGCCATTTTTTTGAGTTTTTAAACAATTTTGCAAGCAAACTAACGTCAAGATTTATCGCATTTTTCTCAGGTGATGCTGAAAGACACAGAGGACAGTAAGAAGACTCTGGAGGATGAACTGCAGAAGACAGCAGAGGTGAAGCCTAAAAAAAAGTTCAACTTGACTAATCTTAAATGTTTCAATATATGCAGTTCAACTATTAAGAGGCATGCAATCTGTTTTAATAAATGGATGACTTTTTTTGCCTTGTCATATTTGAGTATGCCAAATATATGTAATCCCAGCGTTTGAACATATGTGATCATTTAAGATGTTTGGTTGCCTTGTTTGTGTGTGTATGTGTGAAACAGAAGGCCACAGCAACGCTGGAGGAGAATAAGTGTCTGAAGAGTAAACTGCAGGTGGCAGAAGCTGTGCAGAGA[C/T]AGACCAACAGTGCAGAGCAGGACTATGAGGAGGTCATTCAGCTCCTGGAGGCCGAAATCAAAGATCTGAAAAACCAGCTCGCCGGCAAGAACAAGAGAGGCTTGGAGGCCACTAAGGTACATTTTAGCACATTCCTCTGTTTGCTGAAAAAATATTCACATTATTATTATTCATATTATTATTTTTTGTACATTGTTTTTATTCAAATGTTTTACAATGCCACAAATTCTGATACAAACTTTTACATGTGTATACATTATTTTTACAACAGAATTTAACATCATATACTGCATATGAGGTTAAGGAAAGAGAAAAGAAAAGAAAAGAAAAGAAAAAGAAATTCTGGGAAAATAAATAAATAAATAAATATATATATATATAATTAAATAAATAAATAAAGATTGTTAGATATTCTTGCCTTAATTGCTGCTTTTTTGTTAAATATTCAATAAAGGTTACATAAAAATTCATCTACGTGCTAGAAGTGTTACAGTGTCACT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa25256
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000123009 | Nonsense | 687 | 709 | 21 | 22 |
Genomic Location (Zv9):
Chromosome 3 (position 36611785)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 36437319 |
GRCz11 | 3 | 36579177 |
KASP Assay ID:
554-7648.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCATTACCGCAGTACGTAGAGGGATCTGTTGTGAAGGCCGAAGAGGACTG[T/A]GATTCAGAGTGAGTGGCTTTTTTGTTGTTGTGTTATGAAGCTATCAGCAT
Long Flanking Sequence:
GGTGATATATGCCAGTGTTTCTCAACCATGCACCAACACTGCATGTTTTGGATGTCACCTTTGTCTGTTACATCTATTACAGGTCTTTCAGTCTCTGCTAATGCGCTAATGATCAAAATCAGGTGAGGTTTGATTAATGAGACAAGGAATATGTGCAGAGCTGGTGGTCTTCCAGGAACGTGGTTGAGAAACACTGATATTTGCTTTTTGGAATACACTGTGTTTTTAAGGTTTTTTTTCTTCTGTTTTTAAACTAAAACGGGGTTTGCAGGGCTTTTTTAGTTTAAAACTTCAGATAAGTGTGGATACCAGGCATTATTGTAGCAAATGTTGTGCATTTTAAAACAATAATGTTTAAGGTTAAAGAACTCTGTTTGGAGTGTGAATTATATCATTTGGGAAATTTTGTAGACTTCTTGTTTTAATGAACTCATGGTTGGTTATTTTACAGCATTACCGCAGTACGTAGAGGGATCTGTTGTGAAGGCCGAAGAGGACTG[T/A]GATTCAGAGTGAGTGGCTTTTTTGTTGTTGTGTTATGAAGCTATCAGCATTTCCCCCCTTGCACTGCTGCTGTCAGCTGAGTTTAGCTCAGGCCAAATGTTCATTTCTCTGTCACAAAACCCTTCACCAGAACTGCTGGCCTTGCAGAGGCTCTCACTTATCCAGTCTGACAAGGACACCAAAGCAGGCGTAACGTGGATAATTTTTTTAGACTTTAGTGTTTTAAATGGCATTAATCATCCATCACTGAGAAAGGAGAATAATTATTGCAGATGTGAAAAATAGTTTTTGAATTGAAACCAAAGATCACATAACTTCTAAGAATGTTTTCACTGTGAGATTTTCTTTCAGGTCTTTATTCATGTAAAGTCACATTGATTCTGCTAATGAAGAGATTGTTCTTTTCTACAAGTTTGACATTCATTAATTGTCATCCTTTCTATATATTAAATTATATAGTAAATTATAACTGGTTTCTGTTTTATCTTTATATCAGGGAT
Associated Phenotype:
Not determined