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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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jam2a
- Ensembl ID:
- ENSDARG00000058996
- ZFIN ID:
- ZDB-GENE-031204-3
- Description:
- junctional adhesion molecule 2a [Source:RefSeq peptide;Acc:NP_001091734]
- Human Orthologue:
- JAM2
- Human Description:
- junctional adhesion molecule 2 [Source:HGNC Symbol;Acc:14686]
- Mouse Orthologue:
- Jam2
- Mouse Description:
- junction adhesion molecule 2 Gene [Source:MGI Symbol;Acc:MGI:1933820]
Alleles
There are 2 alleles of this gene:
Allele name | Consequence | Status | Availability Estimate |
---|---|---|---|
hu3319 | Nonsense | Confirmed mutation in F2 line | Unknown |
sa39528 | Essential Splice Site | Mutation detected in F1 DNA | During 2018 |
Mutation Details
- Allele Name:
- hu3319
- Current Status:
-
Confirmed mutation in F2 line
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
- Unknown
- Mutation:
- C > A
- Consequence:
- Nonsense
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000081989 | Nonsense | 40 | 307 | 3 | 13 |
ENSDART00000133165 | None | 98 | None | 4 | |
ENSDART00000135944 | Nonsense | 40 | 185 | 3 | 5 |
- Genomic Location (Zv9):
- Chromosome 1 (position 476576)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 1 606700 GRCz11 1 601879 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- CAGGATGAGCTCTAAAATCTGTCTCTGTCCACAGACGCAGAGCTCTCCTG[C/A]GAGTTCAAGACTGAGAAAGACACCAACCCTCGCATCGAGTGGAAGAGGAA
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa39528
- 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:
- T > A
- Consequence:
- Essential Splice Site
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000081989 | Essential Splice Site | 215 | 307 | 8 | 13 |
ENSDART00000133165 | None | 98 | None | 4 | |
ENSDART00000135944 | None | 185 | None | 5 |
- Genomic Location (Zv9):
- Chromosome 1 (position 478673)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 1 608797 GRCz11 1 603976 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- GCTTAAAGCACCCTAGCAACCACATTCTGAAAACTCAGAACATTCGTTTA[T/A]ATTCATATGATAATAAAGGCCTGTGCTGCGTTTTGGAATCAACAGAATGC
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Cognitive performance: A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
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