LOC556262

Ensembl ID:
ENSDARG00000077349
Human Orthologue:
SORCS3
Human Description:
sortilin-related VPS10 domain containing receptor 3 [Source:HGNC Symbol;Acc:16699]
Mouse Orthologue:
Sorcs3
Mouse Description:
sortilin-related VPS10 domain containing receptor 3 Gene [Source:MGI Symbol;Acc:MGI:1913923]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa23046 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa23046
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 > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114236 Essential Splice Site 461 1018 13 27
Genomic Location:
Chromosome 17 (position 20176298)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTTGTCGACGGGGTTTTGATGACTCCAGAGACTGAGAATCGCATCATTAC[G/T]TAAGAATCATGTTCTCTGCCACACTGATCTCAATGGTCCAGAAGGGGTCA
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/ov4q9bwy