si:dkey-13n15.11

Ensembl ID:
ENSDARG00000078002
ZFIN ID:
ZDB-GENE-070705-295
Description:
Novel NACHT domain containing protein [Source:UniProtKB/TrEMBL;Acc:A5PMH1]
Human Orthologue:
NLRP6
Human Description:
NLR family, pyrin domain containing 6 [Source:HGNC Symbol;Acc:22944]
Mouse Orthologue:
Nlrp6
Mouse Description:
NLR family, pyrin domain containing 6 Gene [Source:MGI Symbol;Acc:MGI:2141990]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa20385 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa20385
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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110135 Nonsense 134 1027 1 7
ENSDART00000141573 Nonsense 302 484 4 4
Genomic Location (Zv9):
Chromosome 5 (position 23024132)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 20737004
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATTTTCTCTTTGTTCTTCCATTTCGGGAACTTAACTTAGTTAAAGATGAC[C/T]AATACAGTCTTCACAAACTTCTGCTTGACTTTCATCCAGAACTTTTGGAG
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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