large

Ensembl ID:
ENSDARG00000005126
ZFIN ID:
ZDB-GENE-061204-1
Description:
Glycosyltransferase-like protein LARGE1 [Source:UniProtKB/Swiss-Prot;Acc:Q66PG2]
Human Orthologue:
LARGE
Human Description:
like-glycosyltransferase [Source:HGNC Symbol;Acc:6511]
Mouse Orthologue:
Large
Mouse Description:
like-glycosyltransferase Gene [Source:MGI Symbol;Acc:MGI:1342270]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa40336 Nonsense Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa40336
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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000023917 Nonsense 77 757 2 14
Genomic Location (Zv9):
Chromosome 4 (position 60341111)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 73599464
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTTTAGAGCTGAGGCTCCGGGACGTGGAGGAGCACAACAATGCACTGCGG[C/T]GAGAGATTAGCAGGACTCCCAGGGTCCCGACCCACAGCAGCCATCCGAGC
Associated Phenotype:
Not determined

GWAS

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

  • Visceral fat: Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (View Study)

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

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