ZMP
A5PLH2_DANRE
Ensembl ID:
Description:
Putative uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:A5PLH2]
Human Orthologue:
NUP214
Human Description:
nucleoporin 214kDa [Source:HGNC Symbol;Acc:8064]
Mouse Orthologue:
Nup214
Mouse Description:
nucleoporin 214 Gene [Source:MGI Symbol;Acc:MGI:1095411]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa12991 | Splice Site, Nonsense | Available for shipment | Available now |
| sa20597 | Essential Splice Site, Missense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa12991
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 > A
Consequence:
Splice Site, Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000035580 | None | None | 483 | None | 9 |
| ENSDART00000115182 | Splice Site, Nonsense | 252 | 2031 | 7 | 47 |
Genomic Location (Zv9):
Chromosome 5 (position 74991238)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 71104407 |
| GRCz11 | 5 | 71929341 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTGTGTGTGTGTGTGTGTGTGTGTTAGTGTTGGACGTGTTGTGGCTGAG[C/A]ACCTACACTTTYGCGGTGGCGTACGCAGCAGCAGATGGATCTCTGGAGAC
Long Flanking Sequence:
AATTACCATTCCTAAGCAGCTTTACAGAAAGGTGCACATTATTACTACATTACAGTGTTCTGATGGACTTGTGGACTTGTTTGTGTGTGTGTGTGTGTCTGACAGACGTTACAGGCCAAGAAGGTGATCCCGTGTCCCAATTTCTACAGTCAGGATCACCCTGTCAAAGGTATCATTCACTGTTGTTATTGGTGTGTGTCGGCACTAGGGTTGCCTCCTAGTGCCGTTTGTGCATGACATAACGGCATTATGGACACATTACTGTCTCACACTGACCGCCAAGTCACGGTCTGAGCAGTTTAGCTAAATAAGCCGGATAATTGTCATGCGAAAATAAGATTAAGAGTGTTACTAACCAATGAAAGACATGCCTGAGCTGTGCTTCTGCAGAATTCCCTCATTGTGTGTGTATGTGTGTGTGTGTGTGTACTCATTATCTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAGTGTTGGACGTGTTGTGGCTGAG[C/A]ACCTACACTTTTGCGGTGGCGTACGCAGCAGCAGATGGATCTCTGGAGACGCCGCCGGAGCTGGTGGTGGTGTCCATACCTGTAAGTGCCTCGCACACATACCTGTGTGTGTGTGTGCATGAGTTTCTGTGAGTTTGGGTGTTCGCTTGTGCATTGGTGTATGCACACCTGTGTGTATTTCTGTGGGGTTTGTTTGTTTGTTTGTGTGTGGGTGTTTGTGTGTGTGTGGATGTTTGTGCGTTTGTTTGTTTGTGTGTGTGTATGTGTGTGGGTGTTTGTTTATTTGTTTGTGTTTGGGTGTTTATGTGTGTGGGTGTGGGTATTTGTGCGTTTGTGTGTGTGTGCATGTGTGTGGGTGTTTGTTTGTTTGTGTGGGTGTTTGTGCATTTGCTTGTTTGTGTGTGTTTGTGCGTTTGTGTGTGTGTGTTTGTTTGTTTGTTTGTGTGGGTGTTTGTGTGTGTGTGTGTGTGTGTTGGTTTTTTGTGCATTTGTGTGTGTGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20597
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 > C
Consequence:
Essential Splice Site, Missense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000035580 | Missense | 308 | 483 | 5 | 9 |
| ENSDART00000115182 | Essential Splice Site | 1901 | 2031 | 41 | 47 |
Genomic Location (Zv9):
Chromosome 5 (position 75078639)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 71179881 |
| GRCz11 | 5 | 71964387 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGTCCTTCAGCAGCGGAGGCGGATCTGTGGCCGCACAGGGCTTTGGTTCC[T/C]TCTCCACTCCCACTAAACCAGGTCACATACATATACATACACACACACAC
Long Flanking Sequence:
TTGGTATTTTTCAGGTGAGTAACCAGTTCAAATTAATCCACATTCAATCTGAGCATCTGCTTCTGTGATTGGCTCCTTCTCTGATGATGTCAGTTTGATGCTTCAGATGCTGTACTCTTAGCCACGCCCCTCATGCAGTTAGTTTGCTATGAGGGAATAGTGCACAAAACAAAGCCCCGCCTTCTACTTAATATTCAACAACAGTTGAAATACATCAACATACTGAAATAAATCTCAGCAACGTCCTGCTCACGCTCCCTTTTAAAGGGATAGTTCACCCAGAAATCAGCACTTACAGGCCGTTGACTTTTTTTTCTTCAGTCGATTCGTATAATGCAAGTCAGTGATCGCTGTGTGTGCGTGCTGCAGGTCCGTCTAACCTGTTCGGCAGCACTGGAGCAAAGGGGTTCAGTTTCGGCAACAGTTCGTTCGGGGAGCAGAAGCCCAGCGGGTCCTTCAGCAGCGGAGGCGGATCTGTGGCCGCACAGGGCTTTGGTTCC[T/C]TCTCCACTCCCACTAAACCAGGTCACATACATATACATACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACATATATATATATATATATATATATATACACACACACATACATAAATCTCAAGACACACAGGTATAAATGTGCAAACACAAACACACACACTTATATATCACACATATAAATACATGAATACACATACATACACACACACACACGCACATATATATAAATATATACTGTATATACACACACATAAATACGCACACACACATGCATGCACATATACACAGATATACAAATATGCATGCACACATACATACACATACATAAATATATAAACACATATGCGCACACACTTATACACACACATTAATATATAAACACACATACATACACAAACATGCATACACATATACTGTATGTACACACGCACTCAACCCTACACACATCATTAAATACAGTGCAGGATA
Associated Phenotype:
Not determined