LPHN1 (1 of 4)

Ensembl ID:
ENSDARG00000089292
Description:
latrophilin 1 [Source:HGNC Symbol;Acc:20973]
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 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa20133 Nonsense Mutation detected in F1 DNA During 2015
sa26145 Essential Splice Site Mutation detected in F1 DNA During 2015
sa18767 Nonsense Mutation detected in F1 DNA During 2015

Mutation Details

Allele Name:
sa20133
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 2015.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000124480 Nonsense 144 1474 5 30
Genomic Location:
Chromosome 3 (position 48760990)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCTCTCTCTCTCTTCCACATCTCCAGTCTTTGTATGTCCTGGGACTCTAT[T/A]AAGGGTGCAGGCAGCAAGTTTGCTGCAGGAGGCGGAGCATCAGTCGGGGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa26145
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 2015.
Mutation:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000124480 Essential Splice Site 205 1474 5 30
Genomic Location:
Chromosome 3 (position 48760806)
KASP Assay ID:
2259-4070.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TATGCTTCATGGGAAGACTTCAAGCAGAATCGAGCCACAACCACCTACAA[G/T]TGAGTGACGATCTTAGTGTTAGGAACCAATGACCATCTCTGTGGATAACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18767
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 2015.
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000124480 Nonsense 962 1474 21 30
Genomic Location:
Chromosome 3 (position 48725570)
KASP Assay ID:
2259-4069.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GTCTTTGAGAGCGAATACTCCCGGAAGAAATACTACTACCTTTGTGGCTA[C/A]TGCTTTCCAGCCCTGGTGGTGGGCATCTCAGCAGCCATCGACTACCGCAG
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/9gsihp71