LOC566750

Ensembl ID:
ENSDARG00000022570
Human Orthologue:
NMUR2
Human Description:
neuromedin U receptor 2 [Source:HGNC Symbol;Acc:16454]
Mouse Orthologue:
Nmur2
Mouse Description:
neuromedin U receptor 2 Gene [Source:MGI Symbol;Acc:MGI:2441765]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa13171 Nonsense Available for shipment Available now
sa21931 Nonsense Mutation detected in F1 DNA During 2016
sa31837 Nonsense Mutation detected in F1 DNA During 2016
sa41855 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa13171
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000028641 Nonsense 35 342 1 2
Genomic Location:
Chromosome 11 (position 28986493)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GTTACCTTCAGACCATTGATGAAGTTCWGTTTAAGCTTCTGGGCCCAAGA[C/T]RATCTCCKTTYTTCTTCCCTGTAACCTGTACTTACWTCCTCATCTTCATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21931
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
ENSDART00000028641 Nonsense 158 342 1 2
Genomic Location:
Chromosome 11 (position 28986862)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTGTGATTCACCCGCTCAAAACCCGTTACGCCATCACCAACAAGCACGCT[C/T]GAAGGGTCATCGCTGGGGTTTGGGCTATGTCTCTGCTCTGCGCCGTCCCG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa31837
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:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000028641 Nonsense 183 342 1 2
Genomic Location:
Chromosome 11 (position 28986939)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATGTCTCTGCTCTGCGCCGTCCCGAACACCTCCCTCCATGGCCTGCAGTA[T/A]CAGTATCTGCCGGAGAGGGTTCAGGAATCGGCTACCTGCAACCTGCTCAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa41855
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:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000028641 Nonsense 228 342 1 2
Genomic Location:
Chromosome 11 (position 28987074)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACAACTGTGCTCTTCTACTTTGTTCCCATGATGATGATCAGCGTGCTGTA[T/A]CTGATGATCGGTCTGACGCTTGGCAGAGGGCAGAAGCAGAAAAAGGACAA
Associated Phenotype:
Not determined

GWAS

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

  • Optic disc size (rim): Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. (View Study)
  • Schizophrenia: Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder. (View Study)

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

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