tnxb

Ensembl ID:

ENSDARG00000001760

ZFIN ID:

ZDB-GENE-070103-5

Human Orthologue:

TNXB

Human Description:

tenascin XB [Source:HGNC Symbol;Acc:11976]

Mouse Orthologue:

Tnxb

Mouse Description:

tenascin XB Gene [Source:MGI Symbol;Acc:MGI:1932137]

Alleles

There are 2 alleles of this gene:

Mutation Details

Allele Name:

sa12917

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 16 (position 18683927)

KASP Assay ID:

None (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

AAACTGTGACTATGAAGATGTCCAGTGCCATGCCAGACMCAAAAACTGWC[A/T]AGACAAGGCCAGACAAGGCAATTTTAGTGAAAGAGACAGTTACAAAGGTC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa22795

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 16 (position 18671716)

KASP Assay ID:

None (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

None

Flanking Sequence:

CAGTGACTTTATCTGGCAGTTCTGTGGAGCACCAGCTTAGAGCACTTCAT[A/T]GATCTTCTTTATACATGGTGAAAATGACAAGTCAAGTCAACAGGCTCCAG

Associated Phenotype:

Not determined

GWAS

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

• Age-related macular degeneration: Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. (View Study)
• HIV-1 control: Common genetic variation and the control of HIV-1 in humans. (View Study)
• Phospholipid levels (plasma): Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. (View Study)
• Systemic lupus erythematosus: Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. (View Study)

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

OMIM

• Ehlers-Danlos syndrome, autosomal dominant, hypermobility type
• Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency

More OMIM information for TNXB

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