ARHGEF25 (1 of 2)

Ensembl ID:
ENSDARG00000030766
Description:
Rho guanine nucleotide exchange factor (GEF) 25 [Source:HGNC Symbol;Acc:30275]
Human Orthologue:
ARHGEF25
Human Description:
Rho guanine nucleotide exchange factor (GEF) 25 [Source:HGNC Symbol;Acc:30275]
Mouse Orthologue:
D10Ertd610e
Mouse Description:
DNA segment, Chr 10, ERATO Doi 610, expressed Gene [Source:MGI Symbol;Acc:MGI:1277173]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa8020 Nonsense Mutation detected in F1 DNA During 2014
sa4246 Nonsense Mutation detected in F1 DNA During 2014
sa15460 Nonsense Available for shipment Available now
sa12815 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa8020
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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000048694 Nonsense 170 685 3 16
Genomic Location:
Chromosome 23 (position 28213646)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGTCCTACAGCTTCCAATCGGACTCTCCACAGGGATCCACAACACTAGGA[C/T]AAACACAGGTAATGCTGTGATCAGTGTTTTTCCATTTTGATAGWCATGGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa4246
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 > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000048694 Nonsense 272 685 7 16
Genomic Location:
Chromosome 23 (position 28231655)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GCCCTGCTACTGACTAATGCTGAGTTATACGTCTGATCTCTTCCTAGTTA[T/A]TTCCTGGCCGAGCTGGAGAAATGTGTGGCCGAGCCTGAACGACTGGCGCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15460
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
ENSDART00000048694 Nonsense 436 685 12 16
ENSDART00000048694 Nonsense 436 685 12 16
Genomic Location:
Chromosome 23 (position 28248481)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACAGCAGCATCCTGTCCCGCGCTAAAGAGAGACGRGTCTTCCTGTTTGAA[C/T]AACTTGTCATCTTTAGCGAGCCAATYGACAGGAAGAAAGGATTTTCTCTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12815
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
ENSDART00000048694 Nonsense 436 685 12 16
ENSDART00000048694 Nonsense 436 685 12 16
Genomic Location:
Chromosome 23 (position 28248481)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACAGCAGCATCCTGTCCCGCGCTAAAGAGAGACGGGTCTTCCTGTTTGAA[C/T]AACTTGTCATCTTTAGCGAGCCAATYGACAGGAAGAAAGGATTTTCTCTA
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/r4ghg2h4