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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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ENSDARG00000077343
- Ensembl ID:
- ENSDARG00000077343
- Human Orthologues:
- PCDHB1, PCDHG@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA3, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8
- Human Descriptions:
- protocadherin beta 1 [Source:HGNC Symbol;Acc:8680]
- protocadherin gamma cluster [Source:HGNC Symbol;Acc:8695]
- protocadherin gamma subfamily A, 1 [Source:HGNC Symbol;Acc:8696]
- protocadherin gamma subfamily A, 10 [Source:HGNC Symbol;Acc:8697]
- protocadherin gamma subfamily A, 11 [Source:HGNC Symbol;Acc:8698]
- protocadherin gamma subfamily A, 12 [Source:HGNC Symbol;Acc:8699]
- protocadherin gamma subfamily A, 3 [Source:HGNC Symbol;Acc:8701]
- protocadherin gamma subfamily A, 5 [Source:HGNC Symbol;Acc:8703]
- protocadherin gamma subfamily A, 6 [Source:HGNC Symbol;Acc:8704]
- protocadherin gamma subfamily A, 7 [Source:HGNC Symbol;Acc:8705]
- protocadherin gamma subfamily A, 8 [Source:HGNC Symbol;Acc:8706]
- Mouse Orthologue:
- Pcdhb1
- Mouse Description:
- protocadherin beta 1 Gene [Source:MGI Symbol;Acc:MGI:2136730]
Alleles
There is 1 allele of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa28241 | Nonsense | Mutation detected in F1 DNA | During 2018 |
Mutation Details
- Allele Name:
- sa28241
- 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:
- C > T
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000103420 | Nonsense | 195 | 795 | 1 | 1 |
- Genomic Location (Zv9):
- Chromosome 14 (position 2827488)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 14 2183063 GRCz11 14 2101414 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- GTGGTGGTAAATATGGCGAGCTTGTTTTAAACAAGGAATTGGACCGTGAG[C/T]AGCAGAAAGAGGTGACTTTAATTCTAACTGCGGTAGACGGCGGGACTCCA
- Associated Phenotype:
- Not determined
OMIM
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