rab5aa

Ensembl ID:
ENSDARG00000018602
ZFIN ID:
ZDB-GENE-030131-139
Description:
RAB5A, member RAS oncogene family, a [Source:RefSeq peptide;Acc:NP_958893]
Human Orthologue:
RAB5A
Human Description:
RAB5A, member RAS oncogene family [Source:HGNC Symbol;Acc:9783]
Mouse Orthologue:
Rab5a
Mouse Description:
RAB5A, member RAS oncogene family Gene [Source:MGI Symbol;Acc:MGI:105926]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa17878 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa17878
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000034124 Nonsense 152 216 5 6
ENSDART00000129730 Nonsense 152 216 5 7

The following transcripts of ENSDARG00000018602 do not overlap with this mutation:

Genomic Location:
Chromosome 19 (position 21199729)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GYGTCCTTCACRAGCTGATTTANTTTTTTTTCTACAGGATGCTCAGKCTTA[T/A]GCAGATGACAACAGTTTGCTGTTCATGGAGAYGTCAGCAAAAACCYCCAT
Associated Phenotype:
Not determined

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* quick link - http://q.sanger.ac.uk/0egiyz6z