LOC100334775

Ensembl ID:
ENSDARG00000076795
Human Orthologue:
LPHN1
Human Description:
latrophilin 1 [Source:HGNC Symbol;Acc:20973]
Mouse Orthologue:
Lphn1
Mouse Description:
latrophilin 1 Gene [Source:MGI Symbol;Acc:MGI:1929461]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa1986 Essential Splice Site F2 line generated During 2014
sa15599 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa1986
Current Status:
F2 line generated
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 > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114576 Essential Splice Site 18 390 1 6
Genomic Location:
Chromosome 1 (position 59550841)
KASP Assay ID:
554-2833.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATGARGCTCCAGACAGCAGCTCTGACTYTCTCTGCTCTCCTCTGCGCAGG[T/G]CACRCTTTATTTATTCACTCTTTCTGCTCATTATGAWGTTGTGAATATCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15599
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
ENSDART00000114576 Nonsense 135 390 3 6
Genomic Location:
Chromosome 1 (position 59546473)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GAATACGCCTCCTGGGACGACTACATTCAAAAYAGAGTCACCACCAYGTA[T/A]AAGTGAGYTTCACAGTGTCTRTTTATYCTTTGATYAARTGTAATCAAGGC
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Mortality among heart failure patients: Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium. (View Study)

(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/dyvo2iim