cntnap2

Ensembl ID:
ENSDARG00000074558
ZFIN ID:
ZDB-GENE-070912-26
Description:
Novel protein similar to H.sapiens contactin associated protein [Source:UniProtKB/TrEMBL;Acc:B0S7S0]
Human Orthologues:
AL953854.2, CNTNAP1, CNTNAP3, CNTNAP3B, CNTNAP4, CNTNAP5
Human Descriptions:
contactin associated protein 1 [Source:HGNC Symbol;Acc:8011]
contactin associated protein-like 3 [Source:HGNC Symbol;Acc:13834]
contactin associated protein-like 3B [Source:HGNC Symbol;Acc:32035]
contactin associated protein-like 4 [Source:HGNC Symbol;Acc:18747]
contactin associated protein-like 5 [Source:HGNC Symbol;Acc:18748]
Novel protein similar to contactin associated protein-like 3 (CNTNAP3) [Source:UniProtKB/TrEMBL;Acc:
Mouse Orthologues:
Cntnap1, Cntnap3, Cntnap4, Cntnap5a, Cntnap5b, Cntnap5c
Mouse Descriptions:
contactin associated protein-like 1 Gene [Source:MGI Symbol;Acc:MGI:1858201]
contactin associated protein-like 3 Gene [Source:MGI Symbol;Acc:MGI:3588199]
contactin associated protein-like 4 Gene [Source:MGI Symbol;Acc:MGI:2183572]
contactin associated protein-like 5A Gene [Source:MGI Symbol;Acc:MGI:3643623]
contactin associated protein-like 5B Gene [Source:MGI Symbol;Acc:MGI:3664583]
contactin associated protein-like 5C Gene [Source:MGI Symbol;Acc:MGI:3646013]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa39945 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa39945
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 2017.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000108900 Essential Splice Site 378 621 6 11
Genomic Location (Zv9):
Chromosome 2 (position 50859851)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 50555383
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CATCAGCTCAAAGACACAGGACTACCTGGCCGTAGTGCTGAGACACAATG[G/A]TGAGACAACTCTGATTTAAAGCTTTGGGGATATGAGGGACACATTTATTT
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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