ZMP
nup43
Ensembl ID:
ZFIN ID:
Description:
nucleoporin Nup43 [Source:RefSeq peptide;Acc:NP_998057]
Human Orthologue:
NUP43
Human Description:
nucleoporin 43kDa [Source:HGNC Symbol;Acc:21182]
Mouse Orthologue:
Nup43
Mouse Description:
nucleoporin 43 Gene [Source:MGI Symbol;Acc:MGI:1917162]
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa23620 | Nonsense | Available for shipment | Available now |
sa36935 | Essential Splice Site | Available for shipment | Available now |
sa23621 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa23620
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000064439 | Nonsense | 192 | 372 | 5 | 8 |
Genomic Location (Zv9):
Chromosome 20 (position 1347680)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 20 | 1303545 |
GRCz11 | 20 | 1324371 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGACGACTGAAGTTCTGACTGTGAACTCCATCGGTCAGCTGAAGATGTG[G/A]GACTTCAGACAGCAGAGTGACAGTCCTGCGCAGATTCTCTCACTGTATGT
Long Flanking Sequence:
GACTCTGCCGTTCTGATGCAGTTAGGGAGTTCATTCCACCAACTGGGCAGATTGAGCGCGAGAGTTCGTGAAAGTGATTTCTTCCCTCTTTGGGATGGAACCACGAGGCGACGTTCATTCACAGAACGCAAGTTTCTGGAGGACACATACATCTGCAGAAGTGAGAGCAGATAAGAAGGAGCAAAGCCAGAAGTCGCTTTGTAGGCAAACATCAGAGCTTTGAATTTGATGCGAGCAGCAACTGGCAGCCAGTGCAAACGGATGAGCAGCGGAGTGACGTGCTCTTTTAGGTTCATTAAAGACCACTCGTGCGGCTGCGTTCTGGGAAAAAAGTGCTTAGACATGACCTGTAGTGCAGATGTGTGTCAGAAATACAAAAAGTAATAATAGTTGTTCCCTTTTCTTACAGAAAATGCAGACAGCAGTACAATTCATGCTGTAACGTTTCTGAGGACGACTGAAGTTCTGACTGTGAACTCCATCGGTCAGCTGAAGATGTG[G/A]GACTTCAGACAGCAGAGTGACAGTCCTGCGCAGATTCTCTCACTGTATGTTTTATTTACTCCTATTATCTTTAAAATAGGCTTATGACATATCAGATTGTCTTATTGCGATTAACTGTATAGATTAACGCTATAGAGTGGAGGAACTATGATGTCACCTTGTAGGCGAATCGGCTGCTAGCATAAAACTGGTTCCCTGAATAAAATCCCTTTAGGATTTTCCCATAGGCTTTTCGAAGAGTGCAAATAGTAAGCTCTGTGTTCAAACACTGTTCATTACACTTACACGTTTTGTCCAGCCGGATAATCCTCACAAGGAAATACAACTTTGAGCACTTTTGAATCTTAAATGCAAACGCGAGAACTGAAAAGCTAACATTAGTCTATAAACGGACTTCAGGGCGCTCGCTGACAAACTGACATGTGCTTAAGTTGGTCTTTTTTCTGTGCTTTATTTTATTCTGCTCCTGCAGCACCGGGGATAGAGTGCCCTTGCACTGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa36935
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 |
---|---|---|---|---|---|
ENSDART00000064439 | Essential Splice Site | 207 | 372 | 5 | 8 |
Genomic Location (Zv9):
Chromosome 20 (position 1347726)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 20 | 1303591 |
GRCz11 | 20 | 1324417 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTGGGACTTCAGACAGCAGAGTGACAGTCCTGCGCAGATTCTCTCACTG[T/A]ATGTTTTATTTACTCCTATTATCTTTAAAATAGGCTTATGACATATCAGA
Long Flanking Sequence:
GCAGATTGAGCGCGAGAGTTCGTGAAAGTGATTTCTTCCCTCTTTGGGATGGAACCACGAGGCGACGTTCATTCACAGAACGCAAGTTTCTGGAGGACACATACATCTGCAGAAGTGAGAGCAGATAAGAAGGAGCAAAGCCAGAAGTCGCTTTGTAGGCAAACATCAGAGCTTTGAATTTGATGCGAGCAGCAACTGGCAGCCAGTGCAAACGGATGAGCAGCGGAGTGACGTGCTCTTTTAGGTTCATTAAAGACCACTCGTGCGGCTGCGTTCTGGGAAAAAAGTGCTTAGACATGACCTGTAGTGCAGATGTGTGTCAGAAATACAAAAAGTAATAATAGTTGTTCCCTTTTCTTACAGAAAATGCAGACAGCAGTACAATTCATGCTGTAACGTTTCTGAGGACGACTGAAGTTCTGACTGTGAACTCCATCGGTCAGCTGAAGATGTGGGACTTCAGACAGCAGAGTGACAGTCCTGCGCAGATTCTCTCACTG[T/A]ATGTTTTATTTACTCCTATTATCTTTAAAATAGGCTTATGACATATCAGATTGTCTTATTGCGATTAACTGTATAGATTAACGCTATAGAGTGGAGGAACTATGATGTCACCTTGTAGGCGAATCGGCTGCTAGCATAAAACTGGTTCCCTGAATAAAATCCCTTTAGGATTTTCCCATAGGCTTTTCGAAGAGTGCAAATAGTAAGCTCTGTGTTCAAACACTGTTCATTACACTTACACGTTTTGTCCAGCCGGATAATCCTCACAAGGAAATACAACTTTGAGCACTTTTGAATCTTAAATGCAAACGCGAGAACTGAAAAGCTAACATTAGTCTATAAACGGACTTCAGGGCGCTCGCTGACAAACTGACATGTGCTTAAGTTGGTCTTTTTTCTGTGCTTTATTTTATTCTGCTCCTGCAGCACCGGGGATAGAGTGCCCTTGCACTGTGTGGACAAACACCCAAACCAGCAGCACATAGTTGCCACAGGAGGGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23621
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 |
---|---|---|---|---|---|
ENSDART00000064439 | Essential Splice Site | 297 | 372 | 7 | 8 |
Genomic Location (Zv9):
Chromosome 20 (position 1350393)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 20 | 1306258 |
GRCz11 | 20 | 1327084 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTACACTGGGAGAGCACTTCAGGATCAGACGTGAGCACACTTCTACAGAG[T/A]AAGCAATGATTTCGCTGCACACTTACGAAAAATAATATGTAGAATAGAAA
Long Flanking Sequence:
CCTAATCTGCAATTGCCTCTCTGGCTCCACCGCTAACTGTATTACAAAAAAATAAAATTAAATTACTAATGCTTTGCTTCTTACACTTTACACACCTGAAACTCGCCTACAGCACTTCTTCATTGTTGCTCTTATAGTTGTGTAAATCGCTTCCTTGTCCTCATTTGTAAGTCATTTTAGATAAAAGTGTCTGCTAAATGACTAAATGTAAATTCAGTAGCTACTATCTTCCTTTGTATATTTTCCCAAATTTGGATCTCAACGGCTAGCAGTTTCCAACATTCTTCCAAAAATATCGGTTTGGCATAAGCTAATGGCGAGTAAATTAAAATGTCAATAATTTGGTGGCATTGGCACTGATTCAGATCTATTTTCTCTGCAGTGTGGGAAGTACATTTTCATCCATCCAACCCCAATCACTTGTTTACATGCTCAGAGGACGGGTCTCTGCTACACTGGGAGAGCACTTCAGGATCAGACGTGAGCACACTTCTACAGAG[T/A]AAGCAATGATTTCGCTGCACACTTACGAAAAATAATATGTAGAATAGAAATGTGTGATCAGATTACCAAAAACATCGTAGCAATGTGGTATACAGCGCATCCTCGGAAGTATTGATAGCGTTTCACTTTTTCCACATTTCTCTATGTTGCAGCCTTATTAAATGGATTAAATTGATTGATTTCCTCAACATTCTACACACAATCCCCCATAATGACAATGTGAAAAAAGAGTTTTTGAAATTGTTGCAAATTTATTACAAATAAAAAAGCTGATAAATCACATGTAAATCAGTAAGCCTTTAGCGTGAAGCTGAAAATTGAGCTCATTCTGTCTCCACTGATCATTCTTAAACTCTGTTTGAGTTCACCTGTGCTCAATTCAGTTGAATTTTTTTTGCTTTGTTGCAGAGGGCTGGCACAGTAGGGTCGTCTCACAAAGTGCCATATCGCTTGCTGGAGAAAATGACTCTGCGGTCAGTGCCTGGCTCGCTGGGGACTCC
Associated Phenotype:
Not determined