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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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si:ch211-156p11.1
- Ensembl ID:
- ENSDARG00000071604
- ZFIN ID:
- ZDB-GENE-070912-120
- Description:
- Novel NACHT domain containing protein [Source:UniProtKB/TrEMBL;Acc:A8HAM9]
- 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 are 2 alleles of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa43771 | Nonsense | Mutation detected in F1 DNA | During 2017 |
| sa13046 | Nonsense | Available for shipment | Available now |
Mutation Details
- Allele Name:
- sa43771
- Current Status:
-
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
- We currently estimate that this allele will be available during 2017.
- Mutation:
- C > A
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000105988 | Nonsense | 305 | 871 | 3 | 14 |
| ENSDART00000141625 | Nonsense | 497 | 671 | 3 | 3 |
- Genomic Location (Zv9):
- Chromosome 22 (position 9154586)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 22 9185662 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- TGTACCCAGATCTTTAAGGAGGAAACAGGGATTGCTCTTGGTACCATGTA[C/A]TGCTTTGTTCACTTGAGCATTCAAGAGTTTATTGCAGCCATTTATGCACA
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa13046
- 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
Order Allele From EZRC - Mutation:
- T > A
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000105988 | Nonsense | 815 | 871 | 13 | 14 |
| ENSDART00000141625 | None | 671 | None | 3 |
- Genomic Location (Zv9):
- Chromosome 22 (position 9164650)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 22 9195726 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- CCTCAGCTGKAATGAACTAGSAGACTCTGGAGTGAMAAACCTCAGTGATT[T/A]ACTGATGAAGCCACAATTCARGCTGGAGAAACTACAGTTAGTATCATTAT
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Platelet counts: New gene functions in megakaryopoiesis and platelet formation. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
Register
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