ank2

Ensembl ID:
ENSDARG00000043313
ZFIN ID:
ZDB-GENE-041010-165
Description:
ankyrin 2, neuronal [Source:RefSeq peptide;Acc:NP_001006063]
Human Orthologue:
ANK2
Human Description:
ankyrin 2, neuronal [Source:HGNC Symbol;Acc:493]
Mouse Orthologue:
Ank2
Mouse Description:
ankyrin 2, brain Gene [Source:MGI Symbol;Acc:MGI:88025]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa5447 Nonsense Mutation detected in F1 DNA During 2014
sa3624 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa5447
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 2014.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000043984 None None 312 None 7
ENSDART00000138803 None None 98 None 2
ENSDART00000142580 None None 237 None 6
ENSDART00000145925 None None 467 None 5
ENSDART00000147287 Nonsense 507 3538 14 47
Genomic Location:
Chromosome 7 (position 59212419)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATCAGACTCCTCTTCACATTGCATCTCGTCTGGGTAAGACAGAGATTGTC[C/T]AGCTTCTGCTTCAACACATGGCTCATCCAGACGCAGCAACYGCTAATGGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa3624
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 2014.
Mutation:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000043984 None None 312 None 7
ENSDART00000138803 None None 98 None 2
ENSDART00000142580 None None 237 None 6
ENSDART00000145925 None None 467 None 5
ENSDART00000147287 Essential Splice Site 754 3538 20 47
Genomic Location:
Chromosome 7 (position 59206499)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TAGAAACATGTTATATGCACTTTGGAAAATATAATATTTTTGTCTTTGTC[A/T]GAATGGTTATACACCTTTGCACCAGGCTGCACAACAAGGCAACACACACA
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

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