NRXN2 (1 of 4)

Ensembl ID:
ENSDARG00000063606
Description:
neurexin 2 [Source:HGNC Symbol;Acc:8009]
Human Orthologue:
NRXN2
Human Description:
neurexin 2 [Source:HGNC Symbol;Acc:8009]
Mouse Orthologue:
Nrxn2
Mouse Description:
neurexin II Gene [Source:MGI Symbol;Acc:MGI:1096362]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa40816 Nonsense Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa40816
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 > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000131050 Nonsense 385 536 6 7
Genomic Location (Zv9):
Chromosome 7 (position 484822)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 541662
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGCGCTTCATGTCCCAGCGGGCGTACGGCCTCCTCATGGCCACCACATCC[A/T]AAGAGTCTGCAGACACCCTGCGCCTGGAGCTGGACGGAGGACGGGTCAAG
Associated Phenotype:
Not determined

GWAS

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

  • Urate levels: Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. (View Study)
  • Urate levels: Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele. (View Study)

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

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