ZMP
LOC799983
Ensembl ID:
Human Orthologue:
FAM83A
Human Description:
family with sequence similarity 83, member A [Source:HGNC Symbol;Acc:28210]
Mouse Orthologue:
Fam83a
Mouse Description:
family with sequence similarity 83, member A Gene [Source:MGI Symbol;Acc:MGI:2447773]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa15710 | Essential Splice Site | Available for shipment | Available now |
sa36243 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa15710
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 |
---|---|---|---|---|---|
ENSDART00000128448 | Essential Splice Site | 170 | 426 | 1 | 4 |
Genomic Location (Zv9):
Chromosome 16 (position 47589943)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 44788139 |
GRCz11 | 16 | 44754855 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CRTCCTCCATGAAAGACRTGCTGCGGGAGCTCATCAGGCAAGCAACAAAA[G/A]TAAGAACCTTAAATTTCATGGAGCCTTTTTAAGACATTATTACTTTATTT
Long Flanking Sequence:
TAAGTAATGGACTGTCCGTGCAGTGCTACCTGAAGCCAAAGATGATGGGGAAAATGCGGAAAAGAGTTCAGGAGATGAGAAACCCAAACGCCATGGTGCCTTCATTGGATCTGAGTCATAATGAAAGCACACGACTGGCCATGGATGCTCTCCTGGACAAAGGGATTGATGGATATCAGAAAGCGTTGAGAAAAGAGAATGAAGCCAACTTTCTGTCTGCGGAGGAGAAAGCGTACATCTTAAATCACGTGAAAAAGCCTCACACTGATGAGGACGAGGTAGACAGGGATGAAGAGATGTCCAGTTCTCCGTCAGTTTCTTCTGAGACGTACTTTCCAGTGGCCACTGAAAGCGAGCCTCCAGTTCTGGACTACGGCTGGCCGGTGGCAGACTGGACTTACCATCTGCAAGGTATTCCTAGTGTGGAAGTGTTTTTCCAGTCAGTCAAATCGTCCTCCATGAAAGACATGCTGCGGGAGCTCATCAGGCAAGCAACAAAA[G/A]TAAGAACCTTAAATTTCATGGAGCCTTTTTAAGACATTATTACTTTATTTATTAATTCTGACATGCAAGGAAGATGCACACTGCAATTATAAACTGCATTGCTAATGTATATATAGTTCAAATTTTTCACATTTTAAGTTAGAGATAAACCGATATTGAACTTTTGACCGATACCGATAACCGATATTTTTTTATTCTTTTGCTTTTTGTTGTACAGCACAGTGGCCAGCTGTCATTTAGTAAATGAAATGATAACTCTTTAGATTTAGTATTAGCCGATATTAGCTGATAATTCTTTTCTAAACTTTTCATATTATGATTAATTTCATTATAGTTACACTGTATTGTATCAATGTATTGAGTGTGAATCATATCGCTTTGAGTGATATTATCAAGATTTACACAAGTTAGGGATTAACCGATACAGACTTTTTGACCGATAACTGATATCTTTTTTTTTATTCTTTTGCTTTCTTGTTGTACAGCACAGTGGCCAACTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa36243
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000128448 | Nonsense | 346 | 426 | 4 | 4 |
Genomic Location (Zv9):
Chromosome 16 (position 47575891)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 44774087 |
GRCz11 | 16 | 44740803 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCATGTGCCCAACAGGACTTGCTGGAAACACTGCTGACCACACACAACAG[A/T]AATCTTGTAAGCCCAGAACCCAGAGTTTCCCAACACCACCTGTCCTGGCC
Long Flanking Sequence:
AACAAAATATAAAACATTCAAAGTATTTTAAATAGACACTTCAATGTGCTGTACGCGTATGTGGCCTAGGAGGATAAGTTGCAAAGAACTAGTCACAAATTTTGTCATCATTTTTCTGCGACATAAGCAGCTTCTTCCAAATCACAATTACAAAAGTAAGTAAATAAAAACGCTGTTTGACGGCAAATAAATATTGTTACTTCACATTTGGAGCTGCTTGTAATGATGAAAGCTCACTTATAATGAAACCCCTTTTCCCCTCTCACAGTCTCACCTGGCTGTCCTGGCAGGTTCACAGAAGTTTGGCTGTGCTTTTCAAAGGCAGTGGGGTGAAACCTTTCGACCTGGAGTTTCGCAGACTCTATGCCATTTCAAAACCAGTTCCTGGCTTTTCCTCAAACTCGTCAAATCCCGGCGATCTCAACTTTCCATCTGAGAAACTCCAGATCCCCATGTGCCCAACAGGACTTGCTGGAAACACTGCTGACCACACACAACAG[A/T]AATCTTGTAAGCCCAGAACCCAGAGTTTCCCAACACCACCTGTCCTGGCCAGACAAAACAGCTATCCGAGCTTCACCACTGGACAACAGAGATCTCAATGGCTTTCATGGAGGAACACGATTCAACATCCCGTTACTTCTCAGTCACCGCTCTTTAAAGATTATAATGCCAGAAGCCAAACTTGGCGTCCAATACAGGGCATTCACATCAACAGATGTGCACCTGCAGCTCCACATTGGTGTTAGAGCCGTTTATTTAACCCTTGTGTATTGGTCAAATTGACTACCTTTTCATTATGTTCGTGGCTGTTTTTGCCCCAATGACTTCCGTTATAATGACATTTTTTGACTGCAAAACCATGACACCAAATAATGATGCACTTTTGATAGTAGGTGGTTTTCCCTGTTGGGAAGAGGTAAAACCTTTAATTCGTACTGTTGATCATCAGTTCGCACCATTAACCATTTAGATATAGGCCTGAGCAAAAAAGTTTCCGACAT
Associated Phenotype:
Not determined