rab40b

Ensembl ID:
ENSDARG00000042410
ZFIN ID:
ZDB-GENE-040718-257
Description:
ras-related protein Rab-40B [Source:RefSeq peptide;Acc:NP_001002524]
Human Orthologues:
RAB40A, RAB40AL, RAB40B
Human Descriptions:
RAB40A, member RAS oncogene family [Source:HGNC Symbol;Acc:18283]
RAB40A, member RAS oncogene family-like [Source:HGNC Symbol;Acc:25410]
RAB40B, member RAS oncogene family [Source:HGNC Symbol;Acc:18284]
Mouse Orthologue:
Rab40b
Mouse Description:
Rab40b, member RAS oncogene family Gene [Source:MGI Symbol;Acc:MGI:2183451]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa12834 Nonsense Available for shipment Available now
sa24917 Nonsense Mutation detected in F1 DNA During 2014
sa9095 Nonsense Mutation detected in F1 DNA During 2014
sa3825 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa12834
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000062185 Nonsense 51 279 2 6
ENSDART00000140685 Nonsense 51 203 3 7
Genomic Location:
Chromosome 12 (position 33738583)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AATGAGCATTTAAGTMATTTTATTTCATTTTAAATTGCAGGAATYGACTA[C/A]AAGACTACTACCATTCTCCTGGATGGACGCAGGGTTAAGCTTCAACTKTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24917
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:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000062185 Nonsense 52 279 2 6
ENSDART00000140685 Nonsense 52 203 3 7
Genomic Location:
Chromosome 12 (position 33738582)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATGAGCATTTAAGTCATTTTATTTCATTTTAAATTGCAGGAATCGACTAC[A/T]AGACTACTACCATTCTCCTGGATGGACGCAGGGTTAAGCTTCAACTGTGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9095
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:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000062185 Nonsense 108 279 4 6
ENSDART00000140685 Nonsense 108 203 5 7
Genomic Location:
Chromosome 12 (position 33734131)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTTGTTTATGACATCACWAACCGGTGGTCTTTCGACGGCATCGACAGATG[G/A]ATTAAAGAGATTGATGAGGWAAAATCAGGWCAATCAGATCCAAAATGACT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa3825
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:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000062185 Essential Splice Site 114 279 4 6
ENSDART00000140685 Essential Splice Site 114 203 5 7
Genomic Location:
Chromosome 12 (position 33734111)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCGGTGGTCTTTCGACGGCATCGACAGATGGATTAAAGAGATTGATGAGG[T/A]AAAATCAGGWCAATCAGATCCAAAATGACTGTAATTACAGTAATCAGCAT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/fe1p0uwz