ZMP
helt
Ensembl ID:
ZFIN ID:
Description:
Hairy and enhancer of split-related protein helt [Source:UniProtKB/Swiss-Prot;Acc:Q6QB00]
Human Orthologue:
HELT
Human Description:
HES/HEY-like transcription factor [Source:HGNC Symbol;Acc:33783]
Mouse Orthologue:
Helt
Mouse Description:
Hey-like transcription factor (zebrafish) Gene [Source:MGI Symbol;Acc:MGI:3040955]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa38254 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa19463 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa38254
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000078889 | Essential Splice Site | 125 | 270 | 3 | 4 |
Genomic Location (Zv9):
Chromosome 1 (position 16336317)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 16901485 |
| GRCz11 | 1 | 17594422 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTATCTGCGCGCGCTCCACTCAGCAGACTTTCCGCGCGGGAGAGAAAAAG[G/A]TAGGAATCATGACATAAATCTATGAAGTACAAATCTAAATACGTTCACCA
Long Flanking Sequence:
AATTTAATTAGAATGCTCCAGATTCCAGATGCATCCTTTCTCGAGCAGATATTTTGCGCGCAATGACGCAGAGCGCAACACGACTCTCCTAACTTCTTGCTAAACGCATGCTATTTATAATCTCCAGTCTATGCAATCCAGCACACACTGCAACTCTTCTTTTTATGTTTGGTAATGTTTGTTCCTTTAACCAATCATCATCTCCCATTATCACAGAAAACTCCCGTTTCTCATAAAGTCATCGAGAAAAGAAGAAGAGACCGAATCAACAGATGTCTAAACGAACTGGGGAAGACTGTACCAATGGCATTGGCTAAGCAGGTGCGCATTTGAAACACTAAAAGAGTTTACATGCACATCTCTGTTTTGGATGATGACTGACACAATCTATAATTAAAAACAGAATTCTGGCAAACTTGAGAAAGCAGAAATCCTGGAGATGACGGTGCAGTATCTGCGCGCGCTCCACTCAGCAGACTTTCCGCGCGGGAGAGAAAAAG[G/A]TAGGAATCATGACATAAATCTATGAAGTACAAATCTAAATACGTTCACCAAAACAAATAAATAATTACAAACGCCAAACCATGTATTTCCACAGGCGAACTGCTGACAGAGTTTGCGAATTACTTCCACTACGGCTATCACGAGTGCATGAAAAACCTCGTTCACTACTTAACCACCGTAGAGCGAATGGAGACCAAAGACACCAAGTACGCGCGGATCCTCGCCTTTCTACAGTCCAAAGTGGTTACCGAGCCCGTGTTTGGCTCGTTAGGCACAATCTCACCAGACCCCACGGACCTACTGTGCCAGCTGGAGTATCAGAGTCCAAGTCCCACCGAGTCAGTGTTTCAGCAGAGCCCACCCGGACACTTTTCCTGGCACAGCTCGACGCGGAGCCCCACGCTCGCCTACCCAGCGATGTCTCAGCACAGCGGATACTTATCGCCGGTTCAGGGACTCGATCATCACTACATGAACTTCATCGGCCACAATGCCTTCAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19463
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 |
|---|---|---|---|---|---|
| ENSDART00000078889 | Nonsense | 156 | 270 | 4 | 4 |
Genomic Location (Zv9):
Chromosome 1 (position 16336501)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 16901669 |
| GRCz11 | 1 | 17594606 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCTATCACGAGTGCATGAAAAACCTCGTTCACTACTTAACCACCGTAGAG[C/T]GAATGGAGACCAAAGACACCAAGTACGCGCGGATCCTCGCCTTTCTACAG
Long Flanking Sequence:
CTTTAACCAATCATCATCTCCCATTATCACAGAAAACTCCCGTTTCTCATAAAGTCATCGAGAAAAGAAGAAGAGACCGAATCAACAGATGTCTAAACGAACTGGGGAAGACTGTACCAATGGCATTGGCTAAGCAGGTGCGCATTTGAAACACTAAAAGAGTTTACATGCACATCTCTGTTTTGGATGATGACTGACACAATCTATAATTAAAAACAGAATTCTGGCAAACTTGAGAAAGCAGAAATCCTGGAGATGACGGTGCAGTATCTGCGCGCGCTCCACTCAGCAGACTTTCCGCGCGGGAGAGAAAAAGGTAGGAATCATGACATAAATCTATGAAGTACAAATCTAAATACGTTCACCAAAACAAATAAATAATTACAAACGCCAAACCATGTATTTCCACAGGCGAACTGCTGACAGAGTTTGCGAATTACTTCCACTACGGCTATCACGAGTGCATGAAAAACCTCGTTCACTACTTAACCACCGTAGAG[C/T]GAATGGAGACCAAAGACACCAAGTACGCGCGGATCCTCGCCTTTCTACAGTCCAAAGTGGTTACCGAGCCCGTGTTTGGCTCGTTAGGCACAATCTCACCAGACCCCACGGACCTACTGTGCCAGCTGGAGTATCAGAGTCCAAGTCCCACCGAGTCAGTGTTTCAGCAGAGCCCACCCGGACACTTTTCCTGGCACAGCTCGACGCGGAGCCCCACGCTCGCCTACCCAGCGATGTCTCAGCACAGCGGATACTTATCGCCGGTTCAGGGACTCGATCATCACTACATGAACTTCATCGGCCACAATGCCTTCAGCTTACACAATGCACAACACGCCGCTCTGTAAATACGTCTTAATATGTCCTTAATTTATATCAAATGTACATGTTTTATGTTAATATGTAGATATGTCTCGAAATAAATAACTTTTGAATAAGATTCTGTCTTTCGGCAAGATGAAGTTCTTTTTATCTCACAGAGGAGAAGTTGAGCGGGATAC
Associated Phenotype:
Not determined