anks1b

Ensembl ID:

ENSDARG00000003512

ZFIN ID:

ZDB-GENE-041210-349

Description:

Ankyrin repeat and sterile alpha motif domain-containing protein 1B [Source:UniProtKB/Swiss-Prot;Acc

Human Orthologue:

ANKS1B

Human Description:

ankyrin repeat and sterile alpha motif domain containing 1B [Source:HGNC Symbol;Acc:24600]

Mouse Orthologue:

Anks1b

Mouse Description:

ankyrin repeat and sterile alpha motif domain containing 1B Gene [Source:MGI Symbol;Acc:MGI:1924781]

Alleles

There are 5 alleles of this gene:

Mutation Details

Allele Name:

sa20254

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 2015.

Mutation:

A > G

Consequence:

Essential Splice Site

Genomic Location:

Chromosome 4 (position 17175615)

KASP Assay ID:

None (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

None

Flanking Sequence:

GTGTTTATGTTTGTCTGTTTATTGTATGTTAATAAATTGTTTTTCCCTCT[A/G]GATTATATGATGTCAGATTGTGACAGAGGGAATTTTCACGAAGACTTAGC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa2161

Current Status:

F2 line generated
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 2015.

Mutation:

A > T

Consequence:

Essential Splice Site

Genomic Location:

Chromosome 4 (position 17153738)

KASP Assay ID:

554-2938.1 (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

CTATATATTTATCTGTTATGACTCTATTTTCTGTCATSTTGTCTGTTTGC[A/T]GGACAAGCGATGTGTTGAAATTGCCCATTCTCCATCACTGGATGTGTTTT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa5259

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 2015.

Mutation:

G > A

Consequence:

Essential Splice Site

Genomic Location:

Chromosome 4 (position 17153585)

KASP Assay ID:

None (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

CAAGCCCTGCTCTCTAGACATCAACCTTCACAACGCCTGTCCTCGCAACG[G/A]TTAGTAACTGCWAATCGATGGAGGAAAAAAANNNTCAATCAGCAGGTGGCTGA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa16530

Current Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Mutation:

G > T

Consequence:

Nonsense

Genomic Location:

Chromosome 4 (position 17067417)

KASP Assay ID:

None (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

GGAGCAACTGCACAGGTGGCTCYAKTCCAGCAAACAGYAATACAGGCTAC[G/T]AAGAAAGAGCCTGCACTCTTGGGAGGATGAGGTCTATGCCAAAAAACGTT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa15624

Current Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Mutation:

A > T

Consequence:

Nonsense

Genomic Location:

Chromosome 4 (position 17045893)

KASP Assay ID:

None (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

TTGTGGAGGACCAGGACCTGCTGGAGATTGGGATTTTAAACTCTGCCCAC[A/T]GACARCGACTTCTTCAGGCTATTCGCCTTTTGCCCAGGGTGAGTAGAGAC

Associated Phenotype:

Not determined

GWAS

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

• Amyotrophic lateral sclerosis (age of onset): Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. (View Study)
• Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined): Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. (View Study)
• Metabolite levels (MHPG): Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. (View Study)
• Obesity-related traits: Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (View Study)
• Response to antipsychotic treatment: Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics. (View Study)
• Weight: Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. (View Study)
• Working memory: Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia. (View Study)

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

OMIM

OMIM information for ANKS1B

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