ZMP
zgc:92126
Ensembl ID:
ZFIN ID:
Description:
general transcription factor IIH subunit 1 [Source:RefSeq peptide;Acc:NP_001004596]
Human Orthologue:
GTF2H1
Human Description:
general transcription factor IIH, polypeptide 1, 62kDa [Source:HGNC Symbol;Acc:4655]
Mouse Orthologue:
Gtf2h1
Mouse Description:
general transcription factor II H, polypeptide 1 Gene [Source:MGI Symbol;Acc:MGI:1277216]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa10259 | Nonsense | Available for shipment | Available now |
| sa13977 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa10259
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 |
|---|---|---|---|---|---|
| ENSDART00000032390 | Nonsense | 516 | 550 | 14 | 15 |
Genomic Location (Zv9):
Chromosome 25 (position 3165127)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 3072686 |
| GRCz11 | 25 | 3198430 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGGAGAGGTTTCAGGTGACCAAGCTCCGCCCCTTTCAAGAGAAGATCCAG[C/T]GACAGTATTTGAGCACTAATGTAAGGYCACGCCCCCCNNNNNNGNACCACAMCCCCT
Long Flanking Sequence:
TCTATGAATGCAGCACATAATTGCTCGGCACATCAGATTAATTTCCCTTCTCTGGGATATGGATTTTGCACAAACTATTATCACGATAACGATATTTTTTTCGATATATTGTGCAGCCTTTATATTTATATCAAATAATGCACTCGGCTGTGTGCTTTAAACCAGGCATTCAAGCCTTATTTGACTGTCCATTAAGTTGATGTACACTCACTTTGTGTTTATTTGTGCAGAGTTAGTGCCCGCTGATGTTCAGAGCGAGCTGAAGCACTTATACACGGCCGCCGGAGAGCTGCTCCGACACTTCTGGTCCTGTTTCCCCGTCAACACTCCCTTTCTGGAGGAGAAGGTCAAGAAATTGAATCAAACTATTTGAGTTGTGTTTTTGTTATTTTACTGCAGCATGTTTATCTGCTTTTTCTCTCATACAGGTGTTGAAAATGAAATCCAACCTGGAGAGGTTTCAGGTGACCAAGCTCCGCCCCTTTCAAGAGAAGATCCAG[C/T]GACAGTATTTGAGCACTAATGTAAGGCCACGCCCCCCGACCACAACCCCTCTGCTATCTGTAATGGATTCTAAATTGAGGAAACGTAAATAATTTAGCTGATCTAGCTGCTTGGTAGAAAGACAAGCCAGAATTGATCATTGTGTGGAAGGACAATAGTGTGAGAGTGTGCTGTTTAACTCGTCCTTTTAGACTGAAACATTTAATTTAGTTGTGTTTTTTATTTGCATGCATTTGTAGCCCAAATATCTGAGCATTGGATGAAATCTAGCTCAAATTTATTTATTTTTTGACATATCAAAGGTTTTTACAGATGGGAAATGTCTTTATATTACTCCATAATTCAGAAAATACTGCAAACATTTTTAGGAGAATTAAATGTTTTACATAATCTGGCAAATTTAGCTTTAACAAATTATATATACATATATTTTTTTATTTTTTTATATATTTATTTATATATATATATATATTTTTATATTATATATTATATTTATATAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13977
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:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000032390 | Essential Splice Site | 522 | 550 | 14 | 15 |
Genomic Location (Zv9):
Chromosome 25 (position 3165105)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 3072664 |
| GRCz11 | 25 | 3198408 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCTCCGCCCCTTTCAAGAGAAGATCCAGYGACAGTATTTGAGCACTAATG[T/A]AAGGYCACGCCCCCCNNNNNNGNACCACAMCCCCTCTGCTATCTGTAATGGATTCTA
Long Flanking Sequence:
GCTCGGCACATCAGATTAATTTCCCTTCTCTGGGATATGGATTTTGCACAAACTATTATCACGATAACGATATTTTTTTCGATATATTGTGCAGCCTTTATATTTATATCAAATAATGCACTCGGCTGTGTGCTTTAAACCAGGCATTCAAGCCTTATTTGACTGTCCATTAAGTTGATGTACACTCACTTTGTGTTTATTTGTGCAGAGTTAGTGCCCGCTGATGTTCAGAGCGAGCTGAAGCACTTATACACGGCCGCCGGAGAGCTGCTCCGACACTTCTGGTCCTGTTTCCCCGTCAACACTCCCTTTCTGGAGGAGAAGGTCAAGAAATTGAATCAAACTATTTGAGTTGTGTTTTTGTTATTTTACTGCAGCATGTTTATCTGCTTTTTCTCTCATACAGGTGTTGAAAATGAAATCCAACCTGGAGAGGTTTCAGGTGACCAAGCTCCGCCCCTTTCAAGAGAAGATCCAGCGACAGTATTTGAGCACTAATG[T/A]AAGGCCACGCCCCCCGACCACAACCCCTCTGCTATCTGTAATGGATTCTAAATTGAGGAAACGTAAATAATTTAGCTGATCTAGCTGCTTGGTAGAAAGACAAGCCAGAATTGATCATTGTGTGGAAGGACAATAGTGTGAGAGTGTGCTGTTTAACTCGTCCTTTTAGACTGAAACATTTAATTTAGTTGTGTTTTTTATTTGCATGCATTTGTAGCCCAAATATCTGAGCATTGGATGAAATCTAGCTCAAATTTATTTATTTTTTGACATATCAAAGGTTTTTACAGATGGGAAATGTCTTTATATTACTCCATAATTCAGAAAATACTGCAAACATTTTTAGGAGAATTAAATGTTTTACATAATCTGGCAAATTTAGCTTTAACAAATTATATATACATATATTTTTTTATTTTTTTATATATTTATTTATATATATATATATATTTTTATATTATATATTATATTTATATATATATATATATATATATATATAT
Associated Phenotype:
Not determined