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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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ENSDARG00000087843
- Ensembl ID:
- ENSDARG00000087843
- Human Orthologues:
- CNTN1, CNTN2
- Human Descriptions:
- contactin 1 [Source:HGNC Symbol;Acc:2171]
- contactin 2 (axonal) [Source:HGNC Symbol;Acc:2172]
- Mouse Orthologues:
- Cntn1, Cntn2
- Mouse Descriptions:
- contactin 1 Gene [Source:MGI Symbol;Acc:MGI:105980]
- contactin 2 Gene [Source:MGI Symbol;Acc:MGI:104518]
Alleles
There is 1 allele of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa6784 | Essential Splice Site | Mutation detected in F1 DNA | During 2018 |
Mutation Details
- Allele Name:
- sa6784
- 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 2018.
- Mutation:
- A > G
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000128281 | Essential Splice Site | 105 | 491 | 7 | 17 |
- Genomic Location (Zv9):
- Chromosome 25 (position 167990)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 25 146990 GRCz11 25 10822 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- AGGGTATGCKCTGTGTAAAACATATGCTGGAATAGYTGTTGGTTCATTCC[A/G]CTGTGRCRACCCCTGATRAATAAAGRGAYTMAGCTGGAGGASAGTGAGTG
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Protein quantitative trait loci: A genome-wide association study identifies protein quantitative trait loci (pQTLs). (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
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