EFHA2 (2 of 2)

Ensembl ID:
ENSDARG00000074255
Description:
EF-hand domain family, member A2 [Source:HGNC Symbol;Acc:27820]
Human Orthologue:
EFHA2
Human Description:
EF-hand domain family, member A2 [Source:HGNC Symbol;Acc:27820]
Mouse Orthologue:
Efha2
Mouse Description:
EF-hand domain family, member A2 Gene [Source:MGI Symbol;Acc:MGI:1925756]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa42406 Essential Splice Site Mutation detected in F1 DNA During 2016
sa6347 Essential Splice Site Mutation detected in F1 DNA During 2016
sa8466 Essential Splice Site Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa42406
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 > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000087859 Essential Splice Site 86 438 1 12
Genomic Location (Zv9):
Chromosome 14 (position 31359752)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 30149809
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCTGCGCGCATTGATTTCACCGCTCCCAGCAGTGGCTGCAAAAGAGAAGG[T/C]ATCTACATTTTAGTACATTTTGCGGTGTTGTAGTGTTCACTTTAATATTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa6347
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 > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000087859 Essential Splice Site 214 438 6 12
Genomic Location (Zv9):
Chromosome 14 (position 31344058)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 30134115
KASP Assay ID:
554-4230.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GTTTGATGCGGACGGCAATCAAATGGTGGATAAGAGGGAGTTCATGGTGG[T/C]ATGGCTGTTTTTCTGCCRATGTTTTATTATTAATCTGAATGTCAGCATGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8466
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 > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000087859 Essential Splice Site 239 438 7 12
Genomic Location (Zv9):
Chromosome 14 (position 31343899)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 30133956
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGAAAAGAGAAAGGAGCGAGGAGGAGATGCTGAGAGWTCATCTCAGCTGG[T/C]AAGAAAAACTGGTWCKTCATTTTCAATGTATTTTATTTACAGTCCTRAGT
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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