ZMP
PCDHAC2 (1 of 2)
Ensembl ID:
Description:
protocadherin alpha subfamily C, 2 [Source:HGNC Symbol;Acc:8677]
Human Orthologues:
AC010223.1, PCDHAC1, PCDHAC2
Human Descriptions:
protocadherin alpha subfamily C, 1 [Source:HGNC Symbol;Acc:8676]
protocadherin alpha subfamily C, 2 [Source:HGNC Symbol;Acc:8677]
protocadherin alpha-C1 isoform 2 precursor [Source:RefSeq peptide;Acc:NP_114088]
protocadherin alpha subfamily C, 2 [Source:HGNC Symbol;Acc:8677]
protocadherin alpha-C1 isoform 2 precursor [Source:RefSeq peptide;Acc:NP_114088]
Mouse Orthologue:
Pcdha1
Mouse Description:
protocadherin alpha 1 Gene [Source:MGI Symbol;Acc:MGI:2150982]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa45404 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa38794 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa45404
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000123648 | Nonsense | 147 | 970 | 2 | 9 |
Genomic Location (Zv9):
Chromosome 10 (position 21696548)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 21657962 |
GRCz11 | 10 | 21615343 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGATAACAGACGTGAATGATAATACGCCGCAGTTCCCCAGAGACGAGTA[T/A]CAATTAGAGATCACAGAATCGGCTTTGCCGGGCTCTCGTTTTCCGATCGA
Long Flanking Sequence:
ACCGTTAATGCTGAAGTGGAAGGCAAGATATTGCAAACTGACAAGGCGGAGTGCTGTTTTTAATCCGTCTGCGGATCCTATGATCTTGCGATGGCTGTTGCAGGGATATGTGATTGCCTAGACAAAAAAGTGCCTCTTTCTTTTTTGCTATTTTTATTATTTTGTGGCCTTGCTCTCGGACAAATACGATATTCCGTGCCAGAGGAATCGCAGAGTGGAACGATTGTAGGTGATATTGCACAGGATTTGGGTTTGGATATTCGAAAGCTCTCCACCCGAAAAATTAAGGTAACCTCTGACAGCGGCAAAAGGTACGTGGACCATAAGAATGGAAAATTGGTGGTAAACGAGAGAATTGACAGAGAGACGCTGTGTGATACGAGCACCGCGTGTGTATTAAATCTCGAGGTTCTTCTTGAAGACCCACCTGAAGACCATAATGTCGAGGTGGAGATAACAGACGTGAATGATAATACGCCGCAGTTCCCCAGAGACGAGTA[T/A]CAATTAGAGATCACAGAATCGGCTTTGCCGGGCTCTCGTTTTCCGATCGAACACGCGCAAGATCCGGACATTGGTACCAATTCGGTTCGACTGTACCGGCTCAGCCCAAACGAGCATTTCGCGCTCGATTCCAACAAGCCTTCGCTGAATACTAAGCACATCGAGCTCGTGCTCAAAAAGCCCTTGGATCGCGAGCTCGCCCCTTATCATCAGTTACTCCTGACAGCGACAGACGGTGGCACACCAGCACGAACAGGTACCGCAAAAATAAACGTTCGCGTCTTAGATTCGAATGACAACAACCCCGTTTTTGATAGCTCAGTCTACAAAGTCAAATTGCTTGAAAATTCCCCCAAAGACACTTTGGTTATCAAACTGAATGCCACAGACCAAGATGAAGGAACAAACGGGGAGGTGCTTTATTCATTCAGCAGTTACACCCCAGACAGGGTCAGGCAGATGTTCAGCATGGACATCAACACTGGAGAAATCAGAGTCAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38794
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000123648 | Nonsense | 393 | 970 | 2 | 9 |
Genomic Location (Zv9):
Chromosome 10 (position 21697284)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 21658698 |
GRCz11 | 10 | 21616079 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGTGGTGGCACTGATCAGTGTCACTGACCGGGACTCTGGCCCTAACAAA[C/T]AGGTCACCCTTGAAATTCCACCAGGTCTTCCTTTCAAAATCAAGTCGTTT
Long Flanking Sequence:
GTGGCACACCAGCACGAACAGGTACCGCAAAAATAAACGTTCGCGTCTTAGATTCGAATGACAACAACCCCGTTTTTGATAGCTCAGTCTACAAAGTCAAATTGCTTGAAAATTCCCCCAAAGACACTTTGGTTATCAAACTGAATGCCACAGACCAAGATGAAGGAACAAACGGGGAGGTGCTTTATTCATTCAGCAGTTACACCCCAGACAGGGTCAGGCAGATGTTCAGCATGGACATCAACACTGGAGAAATCAGAGTCAAGAGCAATGTGGACTATGAGGACACCAATTCATATGAAATGTACATCCAGGCCATGGACAAAGGCCCAGCTCCAGTGGCTGCCCATTGCAAAGTGGTGGTGGAGGTCGTTGATGTCAATGACAATGTTCCAGAGATCGTGCTTTCATCTCTGTCCAGTCCAGTACGTGAAGATGCACGTGCAGACACAGTGGTGGCACTGATCAGTGTCACTGACCGGGACTCTGGCCCTAACAAA[C/T]AGGTCACCCTTGAAATTCCACCAGGTCTTCCTTTCAAAATCAAGTCGTTTAGAAATTACTACACCTTGGTAACCTCAGCCTTTCTTGACCGTGAGAACACAGCAGCCTATAATGTCACCCTCAGCGCTACCGATGGCGGCAACCCTCCTCTTTCGTCTCAGAAAACCATTCAGGTGGATGTCGCAGATGTGAACGACAACCCTCCTCGCTTTGACCAGACCTCCTACACTGTGTATGTCACGGAGAACAATGCACCTGGAGCCTCGCTCTGTACCATCAAGGCTCATGATTCAGATGTCAACGAAAACGCTCGCATCACCTACACGGTCCTTAATGACCACAACCATGGAATCCTTGTCACCTCCTATGTGTCGGTGAAAGCAGACACAGGTGTTGCCTACGCTCTTCGCTCCTTTGACTTTGAGTCATTACGGGAGTTTCACTTCCAGGTTAAAGCTCAGGATGGTGGTGTCCCACCACTCAGCCGCGTAGCCACCGTG
Associated Phenotype:
Not determined