trpc4apa

Ensembl ID:
ENSDARG00000018840
ZFIN ID:
ZDB-GENE-000330-3
Description:
short transient receptor potential channel 4-associated protein [Source:RefSeq peptide;Acc:NP_57164
Human Orthologue:
TRPC4AP
Human Description:
transient receptor potential cation channel, subfamily C, member 4 associated protein [Source:HGNC S
Mouse Orthologue:
Trpc4ap
Mouse Description:
transient receptor potential cation channel, subfamily C, member 4 associated protein Gene [Source:M

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa41839 Nonsense Mutation detected in F1 DNA During 2016
sa11819 Splice Site, Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa41839
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:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000019450 Nonsense 531 774 14 19
ENSDART00000128126 Nonsense 3 246 3 8
Genomic Location (Zv9):
Chromosome 11 (position 26106888)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 24935713
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGTTGAGAGCTTTCTGAGAGGAGCCACATCATATGCAGACCAGATGTTTT[T/A]GCTGAAGAGAGGCTTGCTGGAGGTGAAGATCTTAATAGAACACATCAGAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11819
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Splice Site, Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000019450 Splice Site, Nonsense 660 774 17 19
ENSDART00000128126 Splice Site, Nonsense 132 246 6 8
Genomic Location (Zv9):
Chromosome 11 (position 26110083)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 24938908
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGYCCTTTCTTTTWAGGCTGGTCAACATCATCAACGTGCAGACCCTCACA[C/T]AGGCAAGACCACAGTGCACATCTTCTCCACCTGTTTGCCTCATTTCAGTC
Associated Phenotype:
Not determined

GWAS

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

  • Prothrombin time: Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. (View Study)

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

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