ZMP
arvcfa
Ensembl ID:
ZFIN ID:
Human Orthologue:
ARVCF
Human Description:
armadillo repeat gene deleted in velocardiofacial syndrome [Source:HGNC Symbol;Acc:728]
Mouse Orthologue:
Arvcf
Mouse Description:
armadillo repeat gene deleted in velo-cardio-facial syndrome Gene [Source:MGI Symbol;Acc:MGI:109620]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa18632 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
This allele has been removed from public view.
Allele Name:
sa27526
Status:
Less stringent filtering
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:
n/a
Mutation:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000113728 | Nonsense | 167 | 819 | 4 | 16 |
ENSDART00000145220 | Nonsense | 125 | 771 | 2 | 14 |
Genomic Location (Zv9):
Chromosome 10 (position 480105)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 476878 |
GRCz11 | 10 | 478523 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTAACCTACCATCCATCCTTTCCCACCAGAAACTATATACCAGAGAACTG[C/A]TACACGCTGCCGCTGCACCGGGACAGCTTTCCAAACCGGAAATCGGAGCA
Long Flanking Sequence:
GTCACGATCATCGGTCTCATGTGTAGTACGAGCTCGCGATAACATATGATGATGCTGTAGTGCTGTCCCATTATTTAGGGGTAAATGTCGATGCCCTTCCCCTTTCAAGGGCCAAAGGGAAGGGAAAGGATCTTTTGGAGAGGCGTTTAAAGATGGCCGCAGAGTGAAATGACTTACCTTAAGGGGACTTGGCTAAATGCGCTGACCTCTGTGTTTTTCTTTCTCCATCTACAGGAGAGTTCATGTGAAGAGTTGGACGACTCTCAGACATCATCTCCAGATGATCAGTGTGTAAATCAAGCAGAAGCTCCTGATGGATCTCCTGAAACGGAGGATCTTCCTCCTCATCCTGAACCCAGCTTGACGTCTGACCCTGCAAAGGAAGATCTTAAGGACCCGCTGGCTCTCTACAGTACACTACCAGCTCACAGCATGACCCTGCTGCACGGATTAACCTACCATCCATCCTTTCCCACCAGAAACTATATACCAGAGAACTG[C/A]TACACGCTGCCGCTGCACCGGGACAGCTTTCCAAACCGGAAATCGGAGCAGGATGTCTCCGCAGTCAGCCATCCCGTCCATCACATCCGGCCGACTCTGGATCTGTCAGCAGATGATCACCTGGCACCGCTGCAGCACGCGTATTTCCAAGACCTCTACCGGACACTCATCCCGCAGAAACGCGCCAGCATGGTCAGCCTGGACACCATCCGGAAGGACCCACGCTGGAGGGACCCAAACCTGCGGGAGGTCATCGCCATGCTGAGCCACCCCATGGACCCGGTGAAGTCTAACGCCGCCGCGTACCTGCAGCACCTCTGCTACGAGAACGATAAAGTCAAGCAGGACGTCCGGCAGCTGCGCGGGATCCCCGTCCTGGTGGGGCTCCTGGATCACCCCAAACCCGAGGTGCACCGTAAGGCCTGCGGAGCGCTCCGAAACATCTCCTTCGGCAGAGACAACTTCAACAAGGTGGCGATCAAGAACTCGGACGGCATCCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa18632
Status:
Available for shipment
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:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000113728 | Essential Splice Site | 697 | 819 | 12 | 16 |
ENSDART00000145220 | Essential Splice Site | 649 | 771 | 9 | 14 |
Genomic Location (Zv9):
Chromosome 10 (position 502085)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 498858 |
GRCz11 | 10 | 500503 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTCATCCAGGGACAGGGCATYCAGAAACTGGTGTCAATCAACAGAACAAG[G/A]TGACCACCTGGCAACAAACACCATAGCAACARCATACAACACTATAACAC
Long Flanking Sequence:
TACTACACACACTTCTGTCCAAACAAGAGTTGATTATGCATCATAGGTGCTCTTTAAAGCCTCATGATTACACTTGTTGTTTCCTCAGTGGTCTAACTATATCCGGGCGACAGTGCGTAAGGAGAAGGGTCTGCCGGTGCTGGTGGAGCTGCTGCACTCGGATGCGGATAAAGTAGTGCGAGCTGTGGCCATCGCGCTCAGAAACCTGGCCATCGACCACAAGAACAAAGACCTGATCGGTAAGAGCAGCACTTTACTGTGGTGTTCTGCAGCAGAGCCTGTGCTGAGGCGGATCTGTGTCCTGCAGGGAGTTACGCCATGAGGGATCTGGTCAGCAACCTGCCCTGCGGCCAGCAGCGCCCCGCCAAAAACCTGGAGGGAGACACGGTAGTGGCCATCCTGAACACCATCCTGGAGATCATCTCCGAGAACCTGGAGAACGCCAGATTCCTCATCCAGGGACAGGGCATTCAGAAACTGGTGTCAATCAACAGAACAAG[G/A]TGACCACCTGGCAACAAACACCATAGCAACAACATACAACACTATAACACTATATACTACAGCCTAGCAACGCCACATCAATATGGTAAAATCCATTGAAAACACCTTGGCAACACCATAGCAACAACACAACACCCGACTAGTGCCAAACCAATATGGTAAAATACATTAAAAACACCATAGCAACACCATAGCAACAACACAACACCCCACTAGTGCCACAGCAATATGGTAAAATACATTGAAAACACCTTAGCAACACCATAGCAACAACACAACACCCGACCAGTGCCACAGCAACATGGTAAAATCTATTCAGAACACCTTAGCAACATTACAACAGCCTAGCAACGCCACATTAATATGGTAAAATACATTGAAAACACCTTAGCAACACCATAGCAACAACACAACACCTGACTAGTGCCACAGCAATATGGTAAAATCCATTGAAAACACCTTAGCAACACCATAGCAACAACACAACACCCGACCAATGC
Associated Phenotype:
Not determined