gnas

Ensembl ID:
ENSDARG00000043094
ZFIN IDs:
ZDB-GENE-040718-441, ZDB-GENE-040718-441, ZDB-GENE-090417-2
Description:
Zgc:92392 protein [Source:UniProtKB/TrEMBL;Acc:A7E2M0]
Human Orthologue:
GNAS
Human Description:
GNAS complex locus [Source:HGNC Symbol;Acc:4392]
Mouse Orthologue:
Gnas
Mouse Description:
GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus Gene [Source:MGI Symbol;A

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa9319 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa9319
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:
A > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000075048 Essential Splice Site 348 395 14 14
ENSDART00000121809 Essential Splice Site 332 379 12 12
Genomic Location (Zv9):
Chromosome 6 (position 49764188)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 49813869
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCTTTCAYTTGAACTGATTTAATCCTGATGAGRTATTGCTTTGTCTATTC[A/G]GAGGATCAGTACAGCGAGTGGAGATGGCCGGCATTACTGCYACCCYCACT
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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