ZMP
zgc:172359
Ensembl ID:
ZFIN ID:
Description:
HEAT repeat-containing protein 6 [Source:UniProtKB/Swiss-Prot;Acc:A9JRI0]
Human Orthologue:
HEATR6
Human Description:
HEAT repeat containing 6 [Source:HGNC Symbol;Acc:24076]
Mouse Orthologue:
Heatr6
Mouse Description:
HEAT repeat containing 6 Gene [Source:MGI Symbol;Acc:MGI:1919790]
Alleles
There are 7 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa32356 | Essential Splice Site | Available for shipment | Available now |
| sa11893 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa32356
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:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000113316 | Essential Splice Site | 179 | 1201 | 3 | 21 |
Genomic Location (Zv9):
Chromosome 21 (position 37708832)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 38700867 |
| GRCz11 | 21 | 38748573 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCTTGCTCTTTCGTCACTGGTGTATGGCAATGGATCCAAATGCCAAAGG[G/T]TAAGAATTGCTGATATGGAAGCTCTCTCTTTTTTTTTTCTGGATGTTTTG
Long Flanking Sequence:
ACACAATATTTCTCTTGTATGTCAGTGCTGAGTTTACATCCTAATATGCAGTGATTTATTTAATTATTATTATTTTTAAGTTTGGAAAAAAAATTAAAATCCCATATGCGAAACAGACTGTTTTAACAACTAAATGCCATTGGCTGCTTTTTTAAAGGGGGAGGGGCTACTTTGTTTTGCACTGTTTTCATTTTACTTCAAGTTACGTGACACATCAAACACAAGGCATATCACATACTAAAAGTGATACTGCACAAATTATTATTAATAAAAATGATTACTTATTATTGTTACTGACACGATTCTAATCAAGGCTTTCCTATTCCTCTGAAAAAAATCTCCTGTTTTACTACTAACAGATAATAGTGGATGAACATACGCTTGATGTTTTGGTATCGTACTGCTCGCGGGCTCTGCGGACATGCAGTTCATGGACTCATTCAGAGGTGCTGCTTGCTCTTTCGTCACTGGTGTATGGCAATGGATCCAAATGCCAAAGG[G/T]TAAGAATTGCTGATATGGAAGCTCTCTCTTTTTTTTTTCTGGATGTTTTGTTTTATATTGTAATTAAATTTAAATTTTTAATCCTTCCAGTATCTTCCAGAACTTCTTGGACCAAGTGGGGTTCTGGTTAAGTATGGTGACCCCAAGCAGCCAGACATAGAGTTGCGGCGTTCAGCTGTGCATTGCATTGCTAATCTGTGTCTCAGGTCAGTTTTTGCAAATGGCTGTTATTTCAAAAAATAGATTCAGATAAATGCTGGAAAACACCACACAACAACAAAGTGCTCAGCGCCGCGACAAGGCATGCACATAATAGTTGTAAACATTACAAACCAGAAGCCCACATTCGAATGTTATTTGATATGAAACTATTTAGATGGCGCTCTGTGGTGAGACAGAAATATGAACAGTATCCTGAGTCGTGGCTGGGCGCCGCGGACAGCTACCGACTTGCGGCATTGGTGCGTGCACACTGATAGAAATCTATGTTTAGAATTGAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11893
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000113316 | Nonsense | 441 | 1201 | 9 | 21 |
Genomic Location (Zv9):
Chromosome 21 (position 37728314)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 38720349 |
| GRCz11 | 21 | 38768055 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCTCGTGTGCGTCAGAGTTCACTTCAGTGTTTCCTGGCTGTGGTCAAGTG[T/A]GTGGAGAAGCGAATCCTCTATGGTTACTGGTCTTCGTTTGTTCCCGACGC
Long Flanking Sequence:
AAACATTATCTTTTAAAATTTTATTTAATGTTAAAATAAACTTTATTTGGTAAACAAAACAAGTCTCTCGTATAATATATCTACTAAAAGACAGAAAATATTACTGTACAAACTGCATTGTACACAACTCAGATGAACATTTTCATATTAGTCAATAATATTACCGTAATTAATTTGAAAACTGAAAAATAATAGATTTACACACATTTACTCAAGTAAACAGAATTAATGATGGGCTGAAAATCTGCAGAATTCTGCGCACGTCTACTTATAAGTAATAATCATGTGCATGTTAAATGTTTCCTTTGTTGTCTTTTTTATTTAAAAGCACATAATTTCTGTTCAACAAAAATTTAATTTGCTGATCTAGACATGGGTGTGAACTTTTTGGAGCTGGATGTAAATCTGTGAGTATGTGCTTTCACATGTGTCTTCTCTAGGTTGTATCAAGCTCGTGTGCGTCAGAGTTCACTTCAGTGTTTCCTGGCTGTGGTCAAGTG[T/A]GTGGAGAAGCGAATCCTCTATGGTTACTGGTCTTCGTTTGTTCCCGACGCTCCTGGGATTGGAGGTCCTCCTCCTCTCACTCTTCTCACCATCGCCCTGAAAGACCCATCGCCAAAAGTAAAACGCACACACAAAAAATAATACTACAACTAAAAAAACTAAAACCAAAAAATATAGCCTATCCACATTTTCCTACTCAACTTTGTTTTAAATTGTGGTTTGCTTCTTTTCATAAGAACTAAAACTCAATAACTGAAATATTAAAATAACAAAATAGTTGAATAACAAATAATAACAAAAACTAACTTTCCTGTTGTGGCCGACGTGTGTTTAACGTGCAAAGAAATATGTATAAGTCCAAGGTAGCTCTTTTAGAAGGAAAGTTTAAAATAAAACGATTAATGTCGCATTACCAGGCTATTAAGCGTTTCCTCCAGAGTCTCATCTAATTTCGTATGTTTCGTTTTTAATCTTTCGACTTTTGTTTTAATGAAATTTGA
Associated Phenotype:
Not determined