ric8a

Ensembl ID:
ENSDARG00000007247
ZFIN ID:
ZDB-GENE-040927-18
Description:
Synembryn-A [Source:UniProtKB/Swiss-Prot;Acc:Q642H7]
Human Orthologue:
RIC8A
Human Description:
resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) [Source:HGNC Symbol;Acc:29550]
Mouse Orthologue:
Ric8
Mouse Description:
resistance to inhibitors of cholinesterase 8 homolog (C. elegans) Gene [Source:MGI Symbol;Acc:MGI:21

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa15715 Nonsense Available for shipment Available now
sa24616 Nonsense Mutation detected in F1 DNA During 2016
sa32519 Essential Splice Site Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa15715
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
ENSDART00000044738 Nonsense 56 550 3 11
ENSDART00000125288 Nonsense 10 504 1 9
ENSDART00000130354 Nonsense 62 556 4 12
Genomic Location (Zv9):
Chromosome 25 (position 10681452)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 10373503
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTCNNGTTTTCTCATTTCTCAGCGTCTGGGTGAGTTAGTGKTAAGCTTTT[T/A]GRAGAGAGACCTCCAGCCRTCCTGCCAGCTGGCCTGCCTRGAGACCATCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24616
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
ENSDART00000044738 Nonsense 229 550 4 11
ENSDART00000125288 Nonsense 183 504 2 9
ENSDART00000130354 Nonsense 235 556 5 12
Genomic Location (Zv9):
Chromosome 25 (position 10684436)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 10376487
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGGCGCGGGCTGGGTTCGACGGCTGCTCAGAGCTGCCCCCGCTGGGCAGA[C/T]AAGAGACCGAGAGAGTCATGGAGATCCTCAAGATCCTCTTCAATGTTACG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32519
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 > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000044738 Essential Splice Site 369 550 7 11
ENSDART00000125288 Essential Splice Site 323 504 5 9
ENSDART00000130354 Essential Splice Site 375 556 8 12
Genomic Location (Zv9):
Chromosome 25 (position 10689856)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 10381907
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CGAGAGCGCTCGCATCCACAGAGAGACCAGGAAGTTTTTACGGAATAAAG[T/A]AAGATATGATGATTTCATTAGATTGTTTTATTACCTGGGCTTCGAGCATA
Associated Phenotype:
Not determined

GWAS

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

  • Uterine fibroids: A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids. (View Study)

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

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