Search Zebrafish Mutation Project
e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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RBPMS
- Ensembl ID:
- ENSDARG00000088558
- Description:
- RNA binding protein with multiple splicing [Source:HGNC Symbol;Acc:19097]
- Human Orthologue:
- RBPMS
- Human Description:
- RNA binding protein with multiple splicing [Source:HGNC Symbol;Acc:19097]
- Mouse Orthologue:
- Rbpms
- Mouse Description:
- RNA binding protein gene with multiple splicing Gene [Source:MGI Symbol;Acc:MGI:1334446]
Alleles
There is 1 allele of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa9172 | Nonsense | Mutation detected in F1 DNA | During 2018 |
Mutation Details
- Allele Name:
- sa9172
- 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:
- G > A
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000127288 | Nonsense | 177 | 183 | 7 | 8 |
- Genomic Location (Zv9):
- Chromosome 7 (position 77056995)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 7 73887354 GRCz11 7 74144193 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- TTTCTGTCAGATTCGCTGGCTGCCRACTGCAGACACAAACCATCAGAGCT[G/A]GAAGAGTCGACAGTTCTGCTGATCAACATCTGTGAGTGTCTCACAYACAC
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Heart rate variability traits: Heritability of submaximal exercise heart rate response to exercise training is accounted for by nine SNPs. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
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