Busch Lab

ZMP

PCDHAC2 (1 of 2)

Ensembl ID:
ENSDARG00000092081
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]
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.
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.
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