ZMP
polr2i
Ensembl ID:
ZFIN ID:
Description:
DNA directed RNA polymerase II polypeptide I [Source:RefSeq peptide;Acc:NP_001006013]
Human Orthologue:
POLR2I
Human Description:
polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa [Source:HGNC Symbol;Acc:9196]
Mouse Orthologue:
Polr2i
Mouse Description:
polymerase (RNA) II (DNA directed) polypeptide I Gene [Source:MGI Symbol;Acc:MGI:1917170]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa10431 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa10431
Status:
Available for shipment
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For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000059196 | Essential Splice Site | 40 | 126 | 3 | 6 |
| ENSDART00000098878 | None | None | 57 | None | 3 |
The following transcripts of ENSDARG00000040443 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 18 (position 39209297)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 18 | 40922014 |
| GRCz11 | 18 | 40912206 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAATGGKAAGATCTTACWTGACAGAATCTTCATTSGYATSTTGTATTTCA[G/A]TGCAGAAACTGTGACTATCAGCAGGAAGCYGACAACAGCTGCATCTATGT
Long Flanking Sequence:
ACAACATTAGCACTATTTAATTGACTGAACAGTGTTGTACTTTGATAGTCATTGACTGCTAATATGATTTCCCTATTTGGAATTAGCAAAGAACACTTTTCTGAAATGATAAAAAAATAAGGTGAAGGTCTTAAAGTGTGAATTCAAAGCCAACTTTACCTCCATTAAAATCACCATTTACTCTATTTACTGACCCTTTCAAACCGTTACGAGTTTGAAGTTGAAGACAAAAGAAGAATTATTAAAAATATGTTGATGACTTTCATAGTAGGAAGAAAAACAAATACCATGATCAGTGGCTACCGGTTTCCAACATGCTTCAGAATATCTCCTTTTGCATTCAATAAAGAAGATGAAACTCTCACCAGCTGAGTAAATGATGAAAGACCTTTCATATTTAGGTGAACTATTCCTTTAAAGATGCTGACGATTGTGGTTTAACAGTGTTTGAAATGGGAAGATCTTACATGACAGAATCTTCATTGGTATCTTGTATTTCA[G/A]TGCAGAAACTGTGACTATCAGCAGGAAGCTGACAACAGCTGCATCTATGTGAACAAAATCACCCATGAGGTTGAGTGAGTGTCTTGCTTTATGAATTATTCAGAGATGGTGATTCACTAGATTAAGGTAATGGTCTAAATGCCAGTCTATCAATGTAAGCTTTGTTTTATACTGGTGACAGTTTTCGGTCGCATCAGAGGCATGGTTAGTAATGCTTAGAGACACAGTTGTTGCACTTTTCATTGAATTCATATCCAATTTCCAGATTTCACTTACAAAATATTCAATACTGTTTACAAATGTGATGTCTAATATTCAGAAGGCTGTTTTCAGTTCATTTTATTTCAATTCAAAATTCGCTTCCATAGATTCAGTGGTTCAAATTTGACTGTTAAGATCCGACGTTACATCCGGGAAAGCATATATTGAATATTTTGAATATTATACGTCTTATTTTTAAACAGTATTAAATATTATGTCTTATTTTTAAATCGTATTGA
Associated Phenotype:
Not determined