enpp2

Ensembl ID:
ENSDARG00000011257
ZFIN ID:
ZDB-GENE-040426-1156
Description:
ectonucleotide pyrophosphatase/phosphodiesterase family member 2 [Source:RefSeq peptide;Acc:NP_9568
Human Orthologue:
ENPP2
Human Description:
ectonucleotide pyrophosphatase/phosphodiesterase 2 [Source:HGNC Symbol;Acc:3357]
Mouse Orthologue:
Enpp2
Mouse Description:
ectonucleotide pyrophosphatase/phosphodiesterase 2 Gene [Source:MGI Symbol;Acc:MGI:1321390]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa6410 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa6410
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:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000047920 Essential Splice Site 41 850 3 25
ENSDART00000140527 None None 406 None 13
Genomic Location:
Chromosome 16 (position 11081920)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTAAGACTMATGTTCTACATGTGTTTTTGTCTTTTCTTCATGTTCAWTCA[A/T]GGTTTCTCTGACCAGCCATTTACCAGCCTGGCAGGTTCTTGCAAAAAACG
Associated Phenotype:
Not determined

GWAS

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

  • Height: Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. (View Study)

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

Register

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* quick link - http://q.sanger.ac.uk/3e66jalz