adamts22

Ensembl ID:
ENSDARG00000075930
ZFIN ID:
ZDB-GENE-070816-3
Human Orthologue:
ADAMTS2
Human Description:
ADAM metallopeptidase with thrombospondin type 1 motif, 2 [Source:HGNC Symbol;Acc:218]
Mouse Orthologue:
Adamts2
Mouse Description:
a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 2 Gene [

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa1626 Nonsense Available for shipment Available now
sa13856 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa1626
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
ENSDART00000114158 Nonsense 592 1295 12 22
ENSDART00000147203 Nonsense 557 1257 11 21

The following transcripts of ENSDARG00000075930 do not overlap with this mutation:

Genomic Location:
Chromosome 21 (position 31316423)
KASP Assay ID:
554-1567.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GCCAACGGAGGGCGCACTTGTTATGGAAACAACTATGAGTTCCAGTTATG[T/A]AACACGGAGGAGTGCGCAGAAGCCCTGGTGGACTTCAGAGAGGAGCAGTG
Associated Phenotype:

Normal

Stage Entity Quality Tag
Larval:Day 5
ZFS:0000037
whole organism
ZFA:0001094
quality
PATO:0000001
normal
PATO:0000461

Mutation Details

Allele Name:
sa13856
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
ENSDART00000114158 Nonsense 676 1295 13 22
ENSDART00000147203 Nonsense 641 1257 12 21

The following transcripts of ENSDARG00000075930 do not overlap with this mutation:

Genomic Location:
Chromosome 21 (position 31303732)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACTCGCTGTTCCTACAAAGACCCCTACAGCGTGTGTGTKCGTGGAGAGTG[T/A]GAGGTAAAGGTTATTCAAACACACCCATCCCTCCAGTTCATCCTCCAAAA
Associated Phenotype:
Not determined

GWAS

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

(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/22u2fh4s