atp2a2a

Ensembl ID:
ENSDARG00000029439
ZFIN ID:
ZDB-GENE-040426-702
Description:
sarcoplasmic/endoplasmic reticulum calcium ATPase 2 [Source:RefSeq peptide;Acc:NP_957259]
Human Orthologue:
ATP2A2
Human Description:
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 [Source:HGNC Symbol;Acc:812]
Mouse Orthologue:
Atp2a2
Mouse Description:
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 Gene [Source:MGI Symbol;Acc:MGI:88110]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa13962 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa13962
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
ENSDART00000042040 Nonsense 407 996 11 22
ENSDART00000145436 None None 55 None 6
ENSDART00000146241 Nonsense 407 1042 10 20
Genomic Location:
Chromosome 8 (position 12241753)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GTTTGGTCWTTCAGATGCCTTGACAACAGAATCGTGAAGTGCTCCCARTA[T/A]GATGGTTTGGTGGAGYTGGCGACCATCTGTGCCTTRTGCAATGACTCCTC
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/.)

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* quick link - http://q.sanger.ac.uk/8lqy6d0v