A5PLH2_DANRE

Ensembl ID:
ENSDARG00000016212
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 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa12991 Splice Site, Nonsense Available for shipment Available now
sa20597 Essential Splice Site, Missense Available for shipment Available now

Mutation Details

Allele Name:
sa12991
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
C > A
Consequence:
Splice Site, Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000035580   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
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGTGTGTGTGTGTGTGTGTGTGTGTTAGTGTTGGACGTGTTGTGGCTGAG[C/A]ACCTACACTTTYGCGGTGGCGTACGCAGCAGCAGATGGATCTCTGGAGAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20597
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
T > C
Consequence:
Essential Splice Site, Missense
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
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGTCCTTCAGCAGCGGAGGCGGATCTGTGGCCGCACAGGGCTTTGGTTCC[T/C]TCTCCACTCCCACTAAACCAGGTCACATACATATACATACACACACACAC
Associated Phenotype:
Not determined

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