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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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NLRP6 (55 of 83)
- Ensembl ID:
- ENSDARG00000039900
- Description:
- NLR family, pyrin domain containing 6 [Source:HGNC Symbol;Acc:22944]
- 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 4 alleles of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa44061 | Nonsense | Mutation detected in F1 DNA | During 2018 |
| sa44062 | Splice Site | Mutation detected in F1 DNA | During 2018 |
| sa32470 | Nonsense | Available for shipment | Available now |
| sa32471 | Nonsense | Available for shipment | Available now |
Mutation Details
- Allele Name:
- sa44061
- 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 2018.
- Mutation:
- T > A
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000058361 | Nonsense | 464 | 890 | 2 | 9 |
- Genomic Location (Zv9):
- Chromosome 23 (position 45272396)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 23 45387437 GRCz11 23 45100757 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- TTATTCACTCCGTTGGATACCTCTCACAGCAGAGACGAGACTATTGAGTA[T/A]ATAAAAAGTAAAATCAGAGAAAATCCGTCTCCGGAGAGATCCATCAATCT
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa44062
- 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 2018.
- Mutation:
- C > A
- Consequence:
- Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000058361 | Splice Site | None | 890 | None | 9 |
- Genomic Location (Zv9):
- Chromosome 23 (position 45272627)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 23 45387206 GRCz11 23 45100526 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- GTGTTGCTGAACTCGACAAAGGACCTGGACGAGTTTGAGCTCAGGCAATA[C/A]GATTTTACAGAGGAGTGTCTTCTGAGGCTGCTACCGGTGGTCAAAGCTTC
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa32470
- 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 |
|---|---|---|---|---|---|
| ENSDART00000058361 | Nonsense | 609 | 890 | 4 | 9 |
- Genomic Location (Zv9):
- Chromosome 23 (position 45274340)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 23 45385493 GRCz11 23 45098813 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- GTCTGCGAGAACTGGACCTCAGTGAAAACAGGCTCCAGCTTTCAGGAATA[C/T]GACTTTTCTCTGCAGGACTGAAGAGCCCTAACTGTAAGCTGGAGATACTC
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa32471
- 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:
- A > T
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000058361 | Nonsense | 853 | 890 | 8 | 9 |
- Genomic Location (Zv9):
- Chromosome 23 (position 45281538)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 23 45378295 GRCz11 23 45091615 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- GAGACCTAGGAGTGAACCTTTTGTCTTTTCTTCTGAAAAATCCACAATGT[A/T]AACTAGAGAAACTGGAGTGAGTGTACTCCACTTTATATTTCATTCATCAT
- 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/.)
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