rhoua

Ensembl ID:
ENSDARG00000019709
ZFIN ID:
ZDB-GENE-040618-3
Description:
rho-related GTP-binding protein RhoU [Source:RefSeq peptide;Acc:NP_001007444]
Human Orthologue:
RHOU
Human Description:
ras homolog gene family, member U [Source:HGNC Symbol;Acc:17794]
Mouse Orthologue:
Rhou
Mouse Description:
ras homolog gene family, member U Gene [Source:MGI Symbol;Acc:MGI:1916831]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa42201 Nonsense Mutation detected in F1 DNA During 2016
sa42200 Essential Splice Site Mutation detected in F1 DNA During 2016
sa22288 Nonsense Available for shipment Available now
sa38938 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa42201
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 2016.
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000046360 Nonsense 66 254 1 3
Genomic Location:
Chromosome 13 (position 24602573)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GTACTTGTTGGGGATGGTGCAGTGGGTAAAACCAGTCTGATTGTGAGCTA[C/A]ACTACTAACGGATATCCCACAGAGTATGTCCCAACAGCGTTTGACAACTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42200
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 2016.
Mutation:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000046360 Essential Splice Site 85 254 1 3
Genomic Location:
Chromosome 13 (position 24602516)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AACGGATATCCCACAGAGTATGTCCCAACAGCGTTTGACAACTTTGCAGG[T/G]AAATATCACTCCAGCATTTAGAACCAAAAGAAAAAGGTAAATCTAAATTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22288
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000046360 Nonsense 193 254 3 3
Genomic Location:
Chromosome 13 (position 24596880)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGGAGAGACCAGTTGAACCGCAGGATGCCAGCGTGTGCGCTGAAGAAGTC[C/T]AGGCTGTGTCGTACATGGAGTGTTCGGCGCTCACACAGAAAAACCTGAAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa38938
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 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000046360 Nonsense 205 254 3 3
Genomic Location:
Chromosome 13 (position 24596844)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCGCTGAAGAAGTCCAGGCTGTGTCGTACATGGAGTGTTCGGCGCTCACA[C/T]AGAAAAACCTGAAGGAGGTGTTTGACACGGCTATAGTGGCCAGCATCCAA
Associated Phenotype:
Not determined

GWAS

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

  • Aging: Linkage and association of successful aging to the 6q25 region in large Amish kindreds. (View Study)
  • Basal cell carcinoma : Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits. (View Study)
  • Dental caries: Genome-wide association scan of dental caries in the permanent dentition. (View Study)
  • Endometriosis: Meta-analysis of genome-wide association scans for genetic susceptibility to endometriosis in Japanese population. (View Study)
  • Type 2 diabetes: Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India. (View Study)

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

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