A5PF17_DANRE

Ensembl ID:
ENSDARG00000077696
Description:
Novel protein [Source:UniProtKB/TrEMBL;Acc:A5PF17]
Human Orthologue:
FAM188B
Human Description:
family with sequence similarity 188, member B [Source:HGNC Symbol;Acc:21916]
Mouse Orthologue:
Fam188b
Mouse Description:
family with sequence similarity 188, member B Gene [Source:MGI Symbol;Acc:MGI:3583959]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa21251 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa21251
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 2014.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114194 Essential Splice Site 652 752 16 19
Genomic Location:
Chromosome 8 (position 19026410)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATCTGATATTGGGCTGCTCTCTTTATTTGAGCACTATAATATATGCAAGG[T/C]AATAAATAATAATACTTGGAAAAAAAATCTAAATGTTTCTATATTTCTCA
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Nephrolithiasis: A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/suru6yq5