atp2a1l

Ensembl ID:
ENSDARG00000035458
ZFIN ID:
ZDB-GENE-041229-2
Description:
ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 like [Source:RefSeq peptide;Acc:NP_0010710
Human Orthologue:
ATP2A1
Human Description:
ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 [Source:HGNC Symbol;Acc:811]
Mouse Orthologue:
Atp2a1
Mouse Description:
ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 Gene [Source:MGI Symbol;Acc:MGI:105058]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa1409 Nonsense Available for shipment Available now
sa14828 Nonsense Mutation detected in F1 DNA During 2016
sa22052 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa1409
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
ENSDART00000105896 Nonsense 407 991 11 24
ENSDART00000144542 Nonsense 334 918 8 21
Genomic Location (Zv9):
Chromosome 12 (position 14359511)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 13215164
KASP Assay ID:
554-1330.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TATCATTTCTTCAGCACAAAGYTGGGTGCCAAAGTTGACTGCAGTCAATA[T/A]GAYGGTTTAGTTGAGTTGGCCACCATCTGCGCCCTGTGCAAYGATTCCTC
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:
sa14828
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:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000105896 Nonsense 829 991 18 24
ENSDART00000144542 Nonsense 756 918 15 21
Genomic Location (Zv9):
Chromosome 12 (position 14362596)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 13218249
KASP Assay ID:
1641-0489.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATCATGGGCAAACCTCCCCGCTCYCCCAAAGARCCCCTGATTTCTGGCTG[G/A]TTGTTCTTCAGATACATGACCGTTGGTGGTAGGTGTRCTTGTTANTTTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22052
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000105896 Essential Splice Site 838 991 18 24
ENSDART00000144542 Essential Splice Site 765 918 15 21
Genomic Location (Zv9):
Chromosome 12 (position 14362625)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 13218278
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGAACCCCTGATTTCTGGCTGGTTGTTCTTCAGATACATGACCGTTGGTG[G/A]TAGGTGTACTTGTTATTTTTTGTGGAATATCTTTAGTAACATTCTCTTTG
Associated Phenotype:
Not determined

GWAS

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

  • Weight: Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. (View Study)

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

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