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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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pm20d1.1
- Ensembl ID:
- ENSDARG00000037551
- ZFIN ID:
- ZDB-GENE-051120-102
- Description:
- Probable carboxypeptidase PM20D1.1 [Source:UniProtKB/Swiss-Prot;Acc:Q32LT9]
- Human Orthologue:
- PM20D1
- Human Description:
- peptidase M20 domain containing 1 [Source:HGNC Symbol;Acc:26518]
- Mouse Orthologue:
- Pm20d1
- Mouse Description:
- peptidase M20 domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:2442939]
Alleles
There is 1 allele of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa17258 | Nonsense | Available for shipment | Available now |
Mutation Details
- Allele Name:
- sa17258
- 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:
- C > T
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000054681 | Nonsense | 160 | 515 | 3 | 13 |
| ENSDART00000136967 | Nonsense | 160 | 515 | 3 | 13 |
| ENSDART00000139695 | None | 169 | None | 7 |
- Genomic Location (Zv9):
- Chromosome 23 (position 18197961)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 23 18100900 GRCz11 23 18027243 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- TAGTGCCGGCTAATGAGGCRGATGGATGGGACGCTCCTCCTTTCTCTGCA[C/T]AGGAGATCRATGGATTCATTTAYGGACGAGGAACCATCGAYAATAAACAG
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Parkinson's disease: Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
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