ZMP
GTF2H1 (2 of 2)
Ensembl ID:
Description:
general transcription factor IIH, polypeptide 1, 62kDa [Source:HGNC Symbol;Acc:4655]
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 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa37983 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa37983
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000139884 | Nonsense | 416 | 453 | 10 | 11 |
Genomic Location (Zv9):
Chromosome 25 (position 3256898)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 3076921 |
| GRCz11 | 25 | 3202665 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGGACATCATCAACTCCATCAGCATTATCCAGCACGAGATGAGGAGCTA[C/A]AAACCCCGGCTCACGCAGGTAACTGTGGGTAAACCCTGGATTATAGTCAG
Long Flanking Sequence:
TAGCGTATGTGTGGATGGGAGTATATGGGTGTTTCCCAGGGATGGGTTGCAGCTGGAAGGTCATCAGTGTGTAAAACATATGCTGGATAATTTGGCAGCTAATTTCGCTGTGACGACCCCTTATTTATAAAGGGACTAAGCTGAAAAGAAAATGAATGAATGATTGAATATTCAGTGTCTTAGAAAATCCTGTTGTCGTTTTTTTTCTAATGTTGTGTTTGTGGCTCGTCAGGTAAAATTACAGGAAGCCATAGAGTATGATGACCTGCAAAACGACTCGGGCCGAAAGACCATCGCTCTGAACCTGAAGAAATCAGACAGGTAAACGCATGCTCCAGGCTTCATTGTGCTGGTGTTTGGACTCTTCATATGAAGTGTGTGTGTGTGTGTTTGTCTGTCAGATATGCCCACGGGCCGGTCCCTCTTCAGTCGCAGCATTACAGCACCAGTCAGGACATCATCAACTCCATCAGCATTATCCAGCACGAGATGAGGAGCTA[C/A]AAACCCCGGCTCACGCAGGTAACTGTGGGTAAACCCTGGATTATAGTCAGTTTTATCAGACAGACGCGATTACGATGCAGTGTACACCGCTCTAAGTGAATGGAAACATCCAGCTGAGGTCTAAATCTGAAAGTGCACCGTGTTAAAAACTATTGATTCTTAAAAGAAAGAGTCGACTCGGACTTAAATAAATGATTCGTCTCGTGTCTGAATCTTTTGTCTGGCCGTATCGATGTTGATATGAGACATCGCCAAATATGAGTTGCCGGATCTGATAAAACGTGAACGCTGTAACGCGGGATTCGCTGGCTGTTTGTTATTAAAGGAAGGATCAGCAAAGACTATTAATGTATGGGACTTTGACAGGGGCTTTAGCAGTACGCAGTTCATATGGACCGGTTTCTTCTTCCTCCAGATGCTCTCTTTTTAGCTCTGGAACATATTGAAAATGCTGAAGAACACAATTTTATTATTTTTTCGGACTCAAAATCTTGTCTACA
Associated Phenotype:
Not determined