CHRNA4 (3 of 3)

Ensembl ID:
ENSDARG00000087071
Description:
cholinergic receptor, nicotinic, alpha 4 [Source:HGNC Symbol;Acc:1958]
Human Orthologue:
CHRNA4
Human Description:
cholinergic receptor, nicotinic, alpha 4 [Source:HGNC Symbol;Acc:1958]
Mouse Orthologue:
Chrna4
Mouse Description:
cholinergic receptor, nicotinic, alpha polypeptide 4 Gene [Source:MGI Symbol;Acc:MGI:87888]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa15204 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa15204
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > G
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000127176 Nonsense 145 551 7 8
Genomic Location:
Chromosome 6 (position 58419170)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GCTCACCTTTTMCATGACGGAAGAGTAANNNNNNNNCCTCCGGCCATCTA[T/G]AAAAGCTCCWGCAGCATYGRYGTCACCTTCYTCCCCTTCGACCAGCAGAA
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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* quick link - http://q.sanger.ac.uk/gblwk3yr