cdh1

Ensembl ID:
ENSDARG00000024371
ZFIN ID:
ZDB-GENE-010606-1
Description:
cadherin 1, epithelial [Source:RefSeq peptide;Acc:NP_571895]
Human Orthologues:
CDH1, CDH3
Human Descriptions:
cadherin 1, type 1, E-cadherin (epithelial) [Source:HGNC Symbol;Acc:1748]
cadherin 3, type 1, P-cadherin (placental) [Source:HGNC Symbol;Acc:1762]
Mouse Orthologues:
Cdh1, Cdh3
Mouse Descriptions:
cadherin 1 Gene [Source:MGI Symbol;Acc:MGI:88354]
cadherin 3 Gene [Source:MGI Symbol;Acc:MGI:88356]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa41032 Splice Site, Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa41032
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 > A
Consequence:
Splice Site, Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000097719 Splice Site, Nonsense 366 864 9 16
ENSDART00000147057   None 123 None 3
Genomic Location (Zv9):
Chromosome 7 (position 56222590)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 52831920
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TAATTTTATTTGATTAAAACTCTCATACTGTATATTTCTTTGCTTTAGTA[C/A]ACTGTATCTGTCCCAGAGAATCAAGTAGGGGTTGAAGTGGCCAAACTTCC
Associated Phenotype:
Not determined

GWAS

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

  • Colorectal cancer: Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. (View Study)
  • Ulcerative colitis: Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. (View Study)

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

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