LOC559590

Ensembl ID:
ENSDARG00000056910
Human Orthologue:
NFASC
Human Description:
neurofascin [Source:HGNC Symbol;Acc:29866]
Mouse Orthologue:
Nfasc
Mouse Description:
neurofascin Gene [Source:MGI Symbol;Acc:MGI:104753]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa11230 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa11230
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079487 Essential Splice Site 62 1166 3 26
Genomic Location:
Chromosome 23 (position 18072089)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTGAATAATTWAAAAAAATGCTGAYGATCATATGATCACACCCTGTACGT[A/C]GCTTCACATGGACGCGTAATGGAGTTTACCTGAACGTGGCAYGGGATCCT
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/.)

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/ibd7lkpg