tspan18b

Ensembl ID:
ENSDARG00000015015
ZFIN ID:
ZDB-GENE-040718-137
Description:
tetraspanin 18b [Source:RefSeq peptide;Acc:NP_001002439]
Human Orthologue:
TSPAN18
Human Description:
tetraspanin 18 [Source:HGNC Symbol;Acc:20660]
Mouse Orthologue:
Tspan18
Mouse Description:
tetraspanin 18 Gene [Source:MGI Symbol;Acc:MGI:1917186]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa36669 Essential Splice Site Mutation detected in F1 DNA During 2016
sa4754 Essential Splice Site Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa36669
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:
A > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000020137 Essential Splice Site 145 246 7 9
ENSDART00000141835 Essential Splice Site 157 258 7 9
Genomic Location:
Chromosome 18 (position 27758593)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTGAAATCTGTCTCATTTAAAGTCAAATTTGTCCTTCTTTGCGTTTCTCT[A/G]GTTTGACTGCTGTGGAGTGAACAGTCCAGAAGACTTTGAGGAAAGCATCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa4754
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:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000020137 Essential Splice Site 203 246 7 9
ENSDART00000141835 Essential Splice Site 215 258 7 9
Genomic Location:
Chromosome 18 (position 27758772)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GTAACCGGGAGGAATGCCTGTCGGGCAGCATGCTGTACCGGAWCAACAAG[G/A]TAGAGTACGTCACATCCCCTCAGCCTGCTCCAAAGCTAGCTCAGATTCAA
Associated Phenotype:
Not determined

GWAS

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

  • Schizophrenia: Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2. (View Study)

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

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