ZMP
FAM193A
Ensembl ID:
Description:
family with sequence similarity 193, member A [Source:HGNC Symbol;Acc:16822]
Human Orthologue:
FAM193A
Human Description:
family with sequence similarity 193, member A [Source:HGNC Symbol;Acc:16822]
Mouse Orthologue:
Fam193a
Mouse Description:
family with sequence similarity 193, member A Gene [Source:MGI Symbol;Acc:MGI:2447768]
Alleles
There are 8 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa31215 | Essential Splice Site | Available for shipment | Available now |
sa14253 | Essential Splice Site | Available for shipment | Available now |
sa14151 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa31215
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 |
---|---|---|---|---|---|
ENSDART00000075216 | Essential Splice Site | 854 | 1476 | 16 | 23 |
Genomic Location (Zv9):
Chromosome 1 (position 37197736)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 36649852 |
GRCz11 | 1 | 37347513 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATGATGAAGAACTGGAACCCTTCTGTGCTGCTCCAGGAACCACTGCCTG[G/A]TCAGTTCCATAAGCCCTTTTTAAAGATGTTTCGCCCACTTCAAAGCAGAT
Long Flanking Sequence:
GAAAGAATAGAAACCCTGTCAGTGACTGTCGTAATTTTTCCAGCCACCAGGGGGGTGACTTGTATCAAAAATGATACGCAAAAAAATAAATAAACCAAAGGCCTAAGTAGTAGGTTTCACTTCCTACTGGGCATATACCTTTCCACATTACTGACTATTGACTATCAAGCAATGATTTACTTTAAATAATTTCAGTACTCGTATCACTGGATTTCATAATGAATCATTAAAAGGACATTTCCTGATGATTTTTTTCATGTAACTCTCTCCACATTATCTTCTCTAGACTCTTCCTCCCACTCCCACATCCAGTCACACAGGCGGAAAGCAACAGGCGTTCAATCCAACCTTACCAGAGCACGTGTACCAGAGCTGCTTCAGCACGGCAGGGGACTGGAACGGCTCTTTACCGTGTCCTTCCCTCAAGCTAGAGAACCTCTGGGACACGCACATGATGAAGAACTGGAACCCTTCTGTGCTGCTCCAGGAACCACTGCCTG[G/A]TCAGTTCCATAAGCCCTTTTTAAAGATGTTTCGCCCACTTCAAAGCAGATTAAAGAACAGCGGCATTCTGATTAAAATGCTATTAAATGTTTTTGCTTTTTGTGGGAGGAGTTCATCTTATAGCTTCATTAATTTTGTAAACCATTGCAAGGCCCAGTTTACCCTATTTGTTATCAGGCCTATCACAAGAGGATGGCACTAAATACCTACCTAATATGCCTACTGACCTAAAACGGGATCAATCTAATCAATTCTACTTGGACAAAATCAAGTTTTGTACTCTCCACAGTAGAGGAAGCACAATGGAATGGTTTCACAAATAGGGTTTAGGAAATAAATGAGGTAATTAAGCTTCTTTTATAAACAGTATTTAGAAACACAATACTGGTATGTATATTGAAACTATTCTGTGGCATTGACATTTTTTGGATATGCCACCAAGTTATTTTTAGTTAAGACAGCTCATACTAGCAATTTAGCCTTAAAGGGATCATTCACAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14253
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000075216 | Essential Splice Site | 1419 | 1476 | 21 | 23 |
ENSDART00000075216 | Essential Splice Site | 1419 | 1476 | 21 | 23 |
Genomic Location (Zv9):
Chromosome 1 (position 37209876)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 36661767 |
GRCz11 | 1 | 37359428 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCTAAGAAGAATAAGAAGAAAAAAGGAGATAAGATGAATAACTCAATAGG[T/C]YAGTTTTGTCAAGTGCTCAAGATAAATGATAAAAAGAAGGGCTTTTAACA
Long Flanking Sequence:
GAACCCCAATCCCTCATCGGTGGGAAGAACACCTCATCGCAACAGCCATGCCCAAAGACTTGTAAAGAGAGGCCTTCAGAGTGTCCTGCCCTCCAGAACGGCACCTCCTTCTACCCAGAGTCAGCCCACACCAAGGTGAAACCCAAACAGCAAGCAAATGGCTCCAAAACCAACGGGGAAGCCACAAAGAGGCCAGCGGAGACCTCCAAAGCTCCAGAACCTCCCAAAGCTGGGAATGTGGCCAGCCCTCAAACTGACACCAAAGCCAAGCAGAGAACATCAGAGGAGTCTGTGACCGACATCAAGCGGGAAGAGAGGACTAGTGGGAAGAAGCCACAGAATGGAGGGAAAGACGAGAGGAACTCTCCTGTTATTGAACCTCCAGCTTCAGACTCTTCTCAGCAGAATGGCAAAGTCCCAAGCAACGAGTCGCCTCAGCCCAAAAGTAAAGCTAAGAAGAATAAGAAGAAAAAAGGAGATAAGATGAATAACTCAATAGG[T/C]CAGTTTTGTCAAGTGCTCAAGATAAATGATAAAAAGAAGGGCTTTTAACAGAATTTTTTTTTTATTATTGTCCAACAGATGATGTATTTCTGCCCAAAGACATCGATTTGGACAGCGTCGATATGGACGAGACTGAACGCGAGGTGGAATATTTCAAAAGGTATCTTCTATGTTTAACGTCACGTTACCAAAGAAAACTAGTGTCAAGAGTATCATAGTCACTTTCAGACCAGATTGAATTTGAAAAAAATCTGCATGGAGAACGTTTTTGACGAATCACTGGTTTTGAGGATTTCTATTACAATGACTGGATTTCGACTACAAAATTTAGCTGTGCAGCAGGTCCATCCCCATAGTTCTGATAAGAACAGATGCACGTGAAACGGCACTACCATTTTTACTTAGGCCACGTTTCCACCTGGTTTTAACATTTATTTAAATGCGTCTCACGAAGTGTAGTTTTATAAACTTATTTCGAGAGGAACACGTGATATGATTGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14151
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000075216 | Essential Splice Site | 1419 | 1476 | 21 | 23 |
ENSDART00000075216 | Essential Splice Site | 1419 | 1476 | 21 | 23 |
Genomic Location (Zv9):
Chromosome 1 (position 37209876)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 36661767 |
GRCz11 | 1 | 37359428 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCTAAGAAGAATAAGAAGAAAAAAGGAGATAAGATGAATAACTCAATAGG[T/C]YAGTTTTGTCAAGTGCTCAAGATAAATGATAAAAAGAAGGGCTTTTAACA
Long Flanking Sequence:
GAACCCCAATCCCTCATCGGTGGGAAGAACACCTCATCGCAACAGCCATGCCCAAAGACTTGTAAAGAGAGGCCTTCAGAGTGTCCTGCCCTCCAGAACGGCACCTCCTTCTACCCAGAGTCAGCCCACACCAAGGTGAAACCCAAACAGCAAGCAAATGGCTCCAAAACCAACGGGGAAGCCACAAAGAGGCCAGCGGAGACCTCCAAAGCTCCAGAACCTCCCAAAGCTGGGAATGTGGCCAGCCCTCAAACTGACACCAAAGCCAAGCAGAGAACATCAGAGGAGTCTGTGACCGACATCAAGCGGGAAGAGAGGACTAGTGGGAAGAAGCCACAGAATGGAGGGAAAGACGAGAGGAACTCTCCTGTTATTGAACCTCCAGCTTCAGACTCTTCTCAGCAGAATGGCAAAGTCCCAAGCAACGAGTCGCCTCAGCCCAAAAGTAAAGCTAAGAAGAATAAGAAGAAAAAAGGAGATAAGATGAATAACTCAATAGG[T/C]CAGTTTTGTCAAGTGCTCAAGATAAATGATAAAAAGAAGGGCTTTTAACAGAATTTTTTTTTTATTATTGTCCAACAGATGATGTATTTCTGCCCAAAGACATCGATTTGGACAGCGTCGATATGGACGAGACTGAACGCGAGGTGGAATATTTCAAAAGGTATCTTCTATGTTTAACGTCACGTTACCAAAGAAAACTAGTGTCAAGAGTATCATAGTCACTTTCAGACCAGATTGAATTTGAAAAAAATCTGCATGGAGAACGTTTTTGACGAATCACTGGTTTTGAGGATTTCTATTACAATGACTGGATTTCGACTACAAAATTTAGCTGTGCAGCAGGTCCATCCCCATAGTTCTGATAAGAACAGATGCACGTGAAACGGCACTACCATTTTTACTTAGGCCACGTTTCCACCTGGTTTTAACATTTATTTAAATGCGTCTCACGAAGTGTAGTTTTATAAACTTATTTCGAGAGGAACACGTGATATGATTGA
Associated Phenotype:
Not determined