ZMP
FAM82A1
Ensembl ID:
Description:
family with sequence similarity 82, member A1 [Source:HGNC Symbol;Acc:26567]
Human Orthologue:
FAM82A1
Human Description:
family with sequence similarity 82, member A1 [Source:HGNC Symbol;Acc:26567]
Mouse Orthologue:
Fam82a1
Mouse Description:
family with sequence similarity 82, member A1 Gene [Source:MGI Symbol;Acc:MGI:2147043]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa22369 | Essential Splice Site | Available for shipment | Available now |
sa17789 | Nonsense | Available for shipment | Available now |
sa22368 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa22369
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000111536 | Essential Splice Site | 141 | 403 | 2 | 11 |
Genomic Location (Zv9):
Chromosome 13 (position 42702607)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 13 | 41923566 |
GRCz11 | 13 | 42049626 |
KASP Assay ID:
2260-6874.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTTTAATCTCTCTTTATTTAATCATACTGTACCCTATTCTTTGTTCTGC[A/T]GGTATATAACTGCACTGACTGATTCAGAGGAAGATGAAAGTGATGATGAG
Long Flanking Sequence:
CTATGATTACAGACATGTGCAGGAACCCCCAAAATTAATTACAGCACCCTAGACCACACAGAACCTAAAAGGTACACTTTCCAAAAAAAAAAAAAAAAAAAAAAAAACAGAAGGCACCTCTTTTTTAGGGGTTCATTATAAAACAGACAACATATACAGATATTTTAAATGCCTTCAATGTTGTTTTATGAAAATTCAAAGGGTTTTCTTTAAAATGATACCAAATTTTTGCATTTACACCTCTGCATGTGGATTTGGGAAGCTTTTAAATTTGGGTAGACAAAATCCAGGTGGAAAGCAAAAATTGGTTGAGCTGAAACAACTCAATTCTTGAGTTATTTTGGTTATTTTTTTTTTGTTGAATTCACTTAAAAAAATTGTCCTAACACATCTATTCTGTGGAACACAGCATTTTTTTTACAGTGTACTAAAAGTTTTACAGTTTATCAAGTTTTAATCTCTCTTTATTTAATCATACTGTACCCTATTCTTTGTTCTGC[A/T]GGTATATAACTGCACTGACTGATTCAGAGGAAGATGAAAGTGATGATGAGCGAAAGCCACAGCAGGAACCAGTCGATGAACTCATGGCTCTGCTGCAGAAAGCAGACCGACTGCACAGCTGCAATGGGCCTGAGAAAGCACAAGGCCTGAGCATTCTGCTTGAGAGGAAAGAAGAGGTTTGTAGACAACCATGAAATAAATTTCTGTTTAATACAACACTAATGCTTCAACTTTGACATTCAACAATTAGTGTCGCAATATATCTTGGTTTTTGTTTCACATGGGTTATTAAAAATGTATTCAATTCAATTCTTCTTTATTTCTATAGCACTATTACAATGAGGTTGTGTCAAAGCAGCTTAGCATAGAAGTTCTAGTAAATTGAAACTGTTGAAGTTTGGTTTAGTTCAATTTAGTGTGGTTTAAATTTCACTGCTGAAAGTCCAAATACAAATCCCAAACAAAGCAAGCCAGGGTGAGGAACAAACTTCACCAATTGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17789
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000111536 | Nonsense | 356 | 403 | 9 | 11 |
Genomic Location (Zv9):
Chromosome 13 (position 42689549)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 13 | 41910598 |
GRCz11 | 13 | 42036568 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTCATTCTACAGGCAGAAGAGAWCAGTCCCAAGTACTCCAAATTTAACTA[C/A]GTGTTTTTAGCTAAGGTAATGACTCTTTTGGTTTAACACCTTGACTTGAA
Long Flanking Sequence:
TTGAGAGTGTTTAATATTTTCTTGTCCAGCAGTCAATAGCAGCTCAAAGCGATATAGAAGTCATGCAAATCTGCCTTTCAAATGGCGTTTGCACCCTGGTGAACCCTGGTACAGTATAGGCTACTGCAGTGTTTATATATTGAGTCATTGCCTAAGTCTCGTAAATGTCAAAATCGTTATTTATTGCTCTGATTATAGTGTGGAGGTTTACAACCTGCCTTGGTAATTGTTTAATATCTCATTTAACACGCAAAGTGTTGGAGGACTCTCACTCGATGTTTACCTGGCAGGAGCAGTCCTTCTGTCAAGAGAGATGTGTTTTCATGAGCTCATTTCTCCAACTCTACCTGAAATGTAAAGAATCCGGTTACACAAACAGCTCAAGAGTCTGCGGTCAACTAAGTTCGTTCTGACTGTGAATGACAGATGTTTACTTGCTCTCTCCTATGTTTCATTCTACAGGCAGAAGAGATCAGTCCCAAGTACTCCAAATTTAACTA[C/A]GTGTTTTTAGCTAAGGTAATGACTCTTTTGGTTTAACACCTTGACTTGAAGCAGTTGTTCAGCCAAACATAAATATTCTGTGATTATTTTTTCACTCTCCATTTGTTCCAAACCTGTTTGAGTTTCTTTTTGTCTGTTGAAAGCAAAAAAAAAATAATAATAATAATTTTTCGAAGAATGCTGGAACTGTTGGCAGCAGTTTCTGGCACTCTTCAAAATATCATCTTTTAAGTAAATGAGTACATTTTTATTTTGGGGTAAATTATGTATTTTGAAGAGAGGGTCATCATTGCTTTTATTCTTGTGCTGTATGGACTATCTAATAAAATGGAGAAATATCTAATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAGTTGTTATCATATATTTAATAATGCATTACTAATAAAGCATTATTAAATATATGTAAGCATATATTTAATAAAGCATTATTAGGCAAAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22368
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000111536 | Nonsense | 374 | 403 | 10 | 11 |
Genomic Location (Zv9):
Chromosome 13 (position 42687524)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 13 | 41908573 |
GRCz11 | 13 | 42034543 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCTTTTCTTGTCAGTGTTATAAAGACTTAGGCCAGAGGAGTGTTGCTCAA[C/T]AGATGTGTGACGCTGCCTCTACCATAAGCGTCGTGACTAAAGAGGTCTTT
Long Flanking Sequence:
TGTGCCGCTTCTGATGCCAAATGATCAACTAGAAGTCCAGTTATTATTTGTTGTTCCTAAAACTTGGATAGGCGCCTGGACTTTTGACAAAGTGTACAAAGACATTAAAATGTTACACAAAAACCTTTTAAATGATGCTGCTTTTTATTTTATTTTGCTCTGCTATGTATGCAAAAATATTAAGCTGCACAAATGTTTTCAACGTTTTTAATTGCAAGAAATGTTTCAACAGTGGTTTTAAATGGAACATTTTTTTAAAATTCTTCTACCATCTCTAGATCAAGAGATCTCAAGAGCTCAAGATATCTTAGAAGGCGACATAATTTTGCTTTCATACAATAGTCAACACATGTATGCTCTCTCACAGGGGGCTCAATAAATATTGCAGCATAGCCACTAAAGCCTAACAGGGACATCTGGAACTTGCTTTTCTGTCATTTCACCTTTGTCCCTTTTCTTGTCAGTGTTATAAAGACTTAGGCCAGAGGAGTGTTGCTCAA[C/T]AGATGTGTGACGCTGCCTCTACCATAAGCGTCGTGACTAAAGAGGTCTTTTTTTTTCTTCTTTACATCAATCGCATTTCTTTGAAATTTGAGTCTTCTTTGTAGTAACACAATTGTTTTTGCTCTTTCTCTAAAGGATGAGGAGGCACAGAAGGAGCTGGACTCTCTTGTAGCATCACTTTAAGTCAACAACAAAATGGGGCACAATTTGTCTGTCTTGGTGTTTTGTTGTCTTCTGGATTCGACTAGACTGTGACTGGTTAATCAACAAACCAACATATCAACTGTTAATGGTGGTCGGGTCACATGGTTTATTATGTCTTCATTAAAAGGGAGCCGTGTTTAGTTTGTTTAACTTTATGCACAATGTTATGGTTATAATTATTCAACTTTTTATATTACAGTTCTCTCCTGCAATTTAACAGAATTTTGAGTTTGCATTTCACAATTTTAAATGCTAAAGTCCAAGTTTAAATCTCACAATTTTGACTCACAGAATTT
Associated Phenotype:
Not determined