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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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nkd1
- Ensembl ID:
- ENSDARG00000020053
- ZFIN ID:
- ZDB-GENE-061108-3
- Description:
- Protein naked cuticle homolog 1 [Source:UniProtKB/Swiss-Prot;Acc:Q2TJA6]
- Human Orthologue:
- NKD1
- Human Description:
- naked cuticle homolog 1 (Drosophila) [Source:HGNC Symbol;Acc:17045]
- Mouse Orthologue:
- Nkd1
- Mouse Description:
- naked cuticle 1 homolog (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:2135954]
Alleles
There is 1 allele of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa21012 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
- Allele Name:
- sa21012
- 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:
- G > A
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000052379 | Essential Splice Site | 19 | 440 | 2 | 10 |
- Genomic Location (Zv9):
- Chromosome 7 (position 39014086)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 7 37350726 GRCz11 7 37621984 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- CTTTTCTCTTTTTAAAGCTGCTATCTGTAAAGCGAGGGAGAGTCCTGAAG[G/A]TGAGTTGAGTGTACTTTGTTATTCATCAAATAAATAATTCCGCTTCTCTT
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Crohn's disease: A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
Register
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