ENSDARG00000078898

Ensembl ID:
ENSDARG00000078898
Human Orthologue:
PCDH7
Human Description:
protocadherin 7 [Source:HGNC Symbol;Acc:8659]
Mouse Orthologue:
Pcdh7
Mouse Description:
protocadherin 7 Gene [Source:MGI Symbol;Acc:MGI:1860487]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa19453 Nonsense Available for shipment Available now
sa32628 Essential Splice Site Available for shipment Available now
sa18574 Essential Splice Site Available for shipment Available now
sa39574 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa19453
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111475 Nonsense 940 1283 2 6
Genomic Location (Zv9):
Chromosome 1 (position 13868925)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 14455711
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCAAGAAGGAGCCAGAAGAGGACTTTTTCGGTCCACAGCCTCCCCCTCTA[C/T]AAGCCCAGGGCTCCCAAAATGAGCGTGGGCGCAAACCACGCAGAGACAAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32628
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111475 Essential Splice Site 1153 1283 4 6
Genomic Location (Zv9):
Chromosome 1 (position 13924495)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 14511281
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAGAACCACACCAGAAGGGAGCGTAGGCGAGGAGGAGCATGTGGAAAATG[G/T]TAAAAAGTCATCCGAGGGAAAGATTTGAGGCCAGTAGTGAACAAAAAAGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18574
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111475 Essential Splice Site 1154 1283 5 6
Genomic Location (Zv9):
Chromosome 1 (position 13926963)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 14513749
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGACAGTTCTTGACAGGATCTCCTAAAAAGGCCTCTGTTCTCTTTTCCTC[A/T]GACTCCAGGCAGCTYCCTGACGTGGCTCTGACAGGAAAATGCACACACGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39574
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 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111475 Nonsense 1216 1283 5 6
Genomic Location (Zv9):
Chromosome 1 (position 13927150)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 14513936
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CCTTCGCCTCACCCGGCGATAACAACAACAACACCGAAGACAACAGCGAC[C/T]GAGAGGAAGATGGAGATGGAGGAACGGATAAAAGCAGCGGAGGTAGCGAC
Associated Phenotype:
Not determined

GWAS

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

  • Lipid traits: A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol. (View Study)
  • Obesity-related traits: Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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