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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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LOC100004008
- Ensembl ID:
- ENSDARG00000070812
- Human Orthologue:
- RBBP6
- Human Description:
- retinoblastoma binding protein 6 [Source:HGNC Symbol;Acc:9889]
- Mouse Orthologues:
- AC099701.1, AC158570.1, Gm9343, Rbbp6
- Mouse Descriptions:
- predicted gene 9343 Pseudogene [Source:MGI Symbol;Acc:MGI:3645198]
- retinoblastoma binding protein 6 Gene [Source:MGI Symbol;Acc:MGI:894835]
Alleles
There is 1 allele of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa41793 | Essential Splice Site | Mutation detected in F1 DNA | During 2017 |
Mutation Details
- Allele Name:
- sa41793
- 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:
- A > C
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000108681 | Essential Splice Site | None | 174 | None | 6 |
| ENSDART00000112677 | Essential Splice Site | 221 | 278 | None | 7 |
- Genomic Location (Zv9):
- Chromosome 11 (position 12239018)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 11 12234759 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- TGAAAATCTCACATTATGTCTGCTTGTGTGTGTTTGCGCTCGATCTGTTC[A/C]GTGAGGCCTATGCTGCTGAGAAGAAAAAGAGGCCGTCCTTCTCCTGCCAG
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Brain structure: Voxelwise genome-wide association study (vGWAS). (View Study)
- 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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