LOC793240

Ensembl ID:
ENSDARG00000057399
Human Orthologue:
PVRL3
Human Description:
poliovirus receptor-related 3 [Source:HGNC Symbol;Acc:17664]
Mouse Orthologue:
Pvrl3
Mouse Description:
poliovirus receptor-related 3 Gene [Source:MGI Symbol;Acc:MGI:1930171]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa10384 Nonsense Available for shipment Available now
sa15247 Nonsense Available for shipment Available now
sa21188 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa10384
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080062 Nonsense 431 550 6 6
Genomic Location:
Chromosome 8 (position 5756956)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCGTCGGACATTCAGAGGGGACTATTATACAAAACAATACATAGGCCCRT[C/A]GGACATGCAGAAGGAGTCACAACTGGATGTTCTTGAGYCGCAMGAGCTTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15247
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080062 Nonsense 524 550 6 6
Genomic Location:
Chromosome 8 (position 5756678)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGAACCCCAGTGGGCCGCCGCTGCACAACGGCTCCCCCTACCTGCGGGAC[G/T]AGTGCTTCGATAATGCCACAGACAATGATTAYGTGYCGCACRTCGACGGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21188
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
ENSDART00000080062 Nonsense 549 550 6 6
Genomic Location:
Chromosome 8 (position 5756601)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GATTACGTGTCGCACATCGACGGGTCCGTGATCTCGCGCAGGGAATGGTA[T/A]GTTTGAGAAGGACTTTTATTAAACAGCCGAACAGTAATTTAAGTAAAGCG
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/k02u026e