LOC555331

Ensembl ID:
ENSDARG00000078127
Human Orthologue:
NEURL4
Human Description:
neuralized homolog 4 (Drosophila) [Source:HGNC Symbol;Acc:34410]
Mouse Orthologue:
Neurl4
Mouse Description:
neuralized homolog 4 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:1921092]

Alleles

There are 5 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa22093 Essential Splice Site Mutation detected in F1 DNA During 2014
sa22092 Nonsense Available for shipment Available now
sa22091 Essential Splice Site Available for shipment Available now
sa22090 Nonsense Mutation detected in F1 DNA During 2014
sa6252 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa22093
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 2014.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109707 Essential Splice Site 247 1588 3 29
Genomic Location:
Chromosome 12 (position 23843538)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GACGCACAGTCGGCCGGACAAATTTCCAAATAACTTTGAGCCTGATAGTG[G/A]TATGTTACATTAAAATGGATTCTTATTTATAAATCATCAATAATCTTCAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22092
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109707 Nonsense 439 1588 6 29
Genomic Location:
Chromosome 12 (position 23839761)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGCTTTTTTTTGTCTTTAAGGCACAATAATGATGAGTGGCTGTGGGATTT[T/A]AACCAATGGGAAAGGGACTCGTCGGGAATACTGCGAATTCAGCCTGGATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22091
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109707 Essential Splice Site 483 1588 7 29
Genomic Location:
Chromosome 12 (position 23839531)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGGAAAGCCAGTGGAGCACTGCACTTCTACATTAATGGCATTGATCAAGG[T/C]GAGACTGGTTTAGACATATAGCCTTGAGCGGGTATTCCCAAACTTTTTTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22090
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 2014.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109707 Nonsense 1410 1588 26 29
Genomic Location:
Chromosome 12 (position 23812576)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GTTACTGTGAGTCCTGTCATAAATTAAGGGGTGATGAGGCCTATTACAAG[C/T]GAGGAGAGCCCCCCAGAGACTATGCTCTACCGTTCGGCTGGTGCCGCTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa6252
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 2014.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109707 Nonsense 1447 1588 27 29
Genomic Location:
Chromosome 12 (position 23812357)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAGACCCACTGTGAAGTCTCCAATGCCTTCAAGAAGTGGCACATTGCGTA[T/A]CACGGCACAAGTGTCGGTTCTCTTAGACGCACCCTGGACCACAACCAACT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/svpo2kv2