RIN1 (2 of 2)

Ensembl ID:
ENSDARG00000070100
Description:
Ras and Rab interactor 1 [Source:HGNC Symbol;Acc:18749]
Human Orthologue:
RIN1
Human Description:
Ras and Rab interactor 1 [Source:HGNC Symbol;Acc:18749]
Mouse Orthologue:
Rin1
Mouse Description:
Ras and Rab interactor 1 Gene [Source:MGI Symbol;Acc:MGI:2385695]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa34004 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa34004
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:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000102603 Essential Splice Site 77 722 3 11
Genomic Location (Zv9):
Chromosome 7 (position 8149607)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 7088190
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTTAAATATGGAACATTGATATGTATTAAACTCTTCTTTTTCACTATTTA[G/T]CATTTTCTCTAGAAAGTTCCGCCCTGAGCTTCCCTGATCTCTGCAGACTA
Associated Phenotype:
Not determined

GWAS

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

  • Bipolar disorder: Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (View Study)

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

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