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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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zgc:91908
- Ensembl ID:
- ENSDARG00000054122
- ZFIN ID:
- ZDB-GENE-040704-17
- Description:
- transmembrane protein 30B [Source:RefSeq peptide;Acc:NP_001002179]
- Human Orthologue:
- TMEM30B
- Human Description:
- transmembrane protein 30B [Source:HGNC Symbol;Acc:27254]
- Mouse Orthologue:
- Tmem30b
- Mouse Description:
- transmembrane protein 30B Gene [Source:MGI Symbol;Acc:MGI:2442082]
Alleles
There is 1 allele of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa36434 | Essential Splice Site | Mutation detected in F1 DNA | During 2018 |
Mutation Details
- Allele Name:
- sa36434
- 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:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000076265 | None | 341 | 1 | 8 | |
| ENSDART00000131638 | Essential Splice Site | None | 268 | None | 7 |
The following transcripts of ENSDARG00000054122 do not overlap with this mutation:
- Genomic Location (Zv9):
- Chromosome 17 (position 28161673)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 17 28085600 GRCz11 17 28102563 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- GCATACGAAAGGCGGAAAAGCTGACCCAGGTGTTGAACAAGTAAAACAGG[T/A]ACGGGACTTTGTGAAGGTGTGTCTTTTGTTTTTCGATGTAATTTACGATT
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Obesity-related traits: Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
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