si:dkey-1d7.1

Ensembl ID:
ENSDARG00000074614
ZFIN ID:
ZDB-GENE-091204-8
Human Orthologue:
RIMBP2
Human Description:
RIMS binding protein 2 [Source:HGNC Symbol;Acc:30339]
Mouse Orthologue:
Rimbp2
Mouse Description:
RIMS binding protein 2 Gene [Source:MGI Symbol;Acc:MGI:2443235]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa23897 Nonsense Available for shipment Available now
sa37273 Nonsense Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa23897
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111288 Nonsense 270 1053 9 22
ENSDART00000133272 Nonsense 263 1105 9 21
ENSDART00000136615   None 68 None 6
Genomic Location (Zv9):
Chromosome 21 (position 16974691)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 18333901
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAGCTTTCTATTGAAGGGGTAGAGGAGCAGGGCAGGTTGGAGCAGAGCTG[T/A]CTTAGTCTGACTACCATAGATGGAGGCGGTCCGCTGGATAGCATTAGCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37273
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 > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111288 Nonsense 330 1053 9 22
ENSDART00000133272 Nonsense 323 1105 9 21
ENSDART00000136615   None 68 None 6
Genomic Location (Zv9):
Chromosome 21 (position 16974871)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 18334081
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGGAAGATCAACCTGATCAAACAGCTGGCAAGAAGTGTGATAGTGGCCTG[G/A]GAGGCACCCATGGTGCCCCTCGGCTGGGGAAACATCAATGGCTACAATAT
Associated Phenotype:
Not determined

GWAS

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

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

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