ZMP
nup188
Ensembl ID:
ZFIN ID:
Human Orthologues:
NUP188, RP11-101E3.5
Human Description:
nucleoporin 188kDa [Source:HGNC Symbol;Acc:17859]
Mouse Orthologue:
Nup188
Mouse Description:
nucleoporin 188 Gene [Source:MGI Symbol;Acc:MGI:2446190]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa9709 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa9709
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 |
|---|---|---|---|---|---|
| ENSDART00000043431 | Essential Splice Site | 153 | 1732 | 7 | 44 |
Genomic Location (Zv9):
Chromosome 21 (position 4810006)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 4387418 |
| GRCz11 | 21 | 4551983 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTTCTTCACCTCCTCACYTACTTCCAGGATGAGAGACATCCATAYAGGG[T/A]AATAATAATGACAGATCAGATTTATTATYGGCWGAGTTTGTTATTWTAAG
Long Flanking Sequence:
ACACATCTACATCATATACAGTTGATGTCAAATGCAATGACATTTTCACAGTATTTCCTATACAATTTATATTTAACATACTAATTTCTATTAGTTCGGCTGGAATAAAAGTATTTGTAATTTTTTTGAAAACAACTTTAAGGACAATATTATTAGCCCCCTTGAAAAATATATGTACCTCTATGTGCATGTACATTGTGAGAACATCATCTAAAGAATTTCCCCATTCCCCATCAGGCTGTGCTGCAGGATGAGAGACAGAGTCAGGCTCTGCTCCTAAAGGTTAGACCCACTTTTATGTCTGTTCAGTTTTGTTTGTCATGTCACAAAATGAAGCTCCTTTAAAGCTCTAATTCAATCTAAAATAGTTTGATTGTGTACCTAATGCTGGAATTGTGTTGTGCAGATTGCAGATTACTACTATGAAGAGAGACTTTGTGTTCTGCGCTGTGTTCTTCACCTCCTCACCTACTTCCAGGATGAGAGACATCCATACAGGG[T/A]AATAATAATGACAGATCAGATTTATTATTGGCTGAGTTTGTTATTATAAGCTTTTAATTTCTATTGTGATGGACAATTGATTCCAAGTCAGGCAGCTTTTCAAACAAGATAAACTGCAGGACAGGACTTGGTTTTTTTCCTGGGAAATTGACTAGATCAGGGGTGTCAAACTCAATTCCTGGAGGGCCGAAGCCCTGCACAGTTTAGTTCCAACCCTGCTCCAACACACTTACCTGTAGGTTTCAAACAAACCTGAAGGACTCAATTAGTTTGATCAGGTGTGTTTAATTAGGGTTGGAACTAAACTGTGCAGAGCTGCGGCCCTTTTGGAACTGAGTTTGACACCTGTGGACTAGATTGTTAAGATTTAGTTTTAAGGATCTCATATGAGTGACCGATTGAAGGTTTTTATATTAAAGTTCATCATTACAGATGTTTTTATCTATTTTTTATCACTTACATTTAGCTTCTATTTATTAAGATGTACTTTTTCTATTTCA
Associated Phenotype:
Not determined