crygmx

Ensembl ID:
ENSDARG00000053862
ZFIN ID:
ZDB-GENE-030131-7732
Description:
crystallin, gamma MX [Source:RefSeq peptide;Acc:NP_001013280]
Human Orthologues:
CRYGA, CRYGB, CRYGC, CRYGD
Human Descriptions:
crystallin, gamma A [Source:HGNC Symbol;Acc:2408]
crystallin, gamma B [Source:HGNC Symbol;Acc:2409]
crystallin, gamma C [Source:HGNC Symbol;Acc:2410]
crystallin, gamma D [Source:HGNC Symbol;Acc:2411]
Mouse Orthologues:
Cryga, Crygb, Crygc, Crygd, Cryge, Crygf
Mouse Descriptions:
crystallin, gamma A Gene [Source:MGI Symbol;Acc:MGI:88521]
crystallin, gamma B Gene [Source:MGI Symbol;Acc:MGI:88522]
crystallin, gamma C Gene [Source:MGI Symbol;Acc:MGI:88523]
crystallin, gamma D Gene [Source:MGI Symbol;Acc:MGI:88524]
crystallin, gamma E Gene [Source:MGI Symbol;Acc:MGI:88525]
crystallin, gamma F Gene [Source:MGI Symbol;Acc:MGI:88526]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa35326 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa35326
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:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000105594 Essential Splice Site 84 175 2 3
ENSDART00000105596 Essential Splice Site 84 200 2 4
ENSDART00000105594 Essential Splice Site 84 175 2 3
ENSDART00000105596 Essential Splice Site 84 200 2 4
Genomic Location (Zv9):
Chromosome 12 (position 32528159)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 30726156
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACTGGGCTGGATTCAACGACTGCATTCGCTCCTGCCGCGTGGTTCCTGCT[G/A]TGAGTACTGTACAGTCAGCTGTAGTAGAAAACAGTACTGATTGATACTTT
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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