ZMP
AFF2
Ensembl ID:
Description:
AF4/FMR2 family, member 2 [Source:HGNC Symbol;Acc:3776]
Human Orthologue:
AFF2
Human Description:
AF4/FMR2 family, member 2 [Source:HGNC Symbol;Acc:3776]
Mouse Orthologue:
Aff2
Mouse Description:
AF4/FMR2 family, member 2 Gene [Source:MGI Symbol;Acc:MGI:1202294]
Alleles
There are 6 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa42382 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa17308 | Essential Splice Site | Available for shipment | Available now |
sa2742 | Nonsense | F2 line generated | Not yet available |
Mutation Details
Allele Name:
sa42382
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000074070 | Nonsense | 526 | 1269 | 11 | 21 |
Genomic Location (Zv9):
Chromosome 14 (position 21695779)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 14 | 20397267 |
GRCz11 | 14 | 20694512 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATAAGTGGATTAAAAAAGTGAATCCTCACAATAAAGCACTAATTAACACC[C/T]AGGCAGATAGTCATGGGCTTAACAGTTCTCAACCTGATGAAAGCCAAACC
Long Flanking Sequence:
GGAAAGATTTACTTCTGTCTGGAAACATAATGGAACACAACAATTGGCGTGAGATAATATCGCTGATGAAAACATCACCGCAGTGAGAGCTGTGAGCAGTCATCAGGACAGTACTCACAGCATTTTCTCTGTTATTCACCAGTTTTATGACTTCCTCTGTTAATGGCCTTTTCATCATAGCATCAACTCGTTGGTCTGTGAAAGTCATATGACTAAATCATCGAGCTTCCTGTGAATCAGTGCTGATGACGTATGAAAGCTGTACAGATACGCATCATTAGAAATTCAGCTTCCTTGTTATTAAATTCATTTATATTGTACAGGAGTCGACATAAAATAATGTTGTATTCAATTTCCTTCCTATTTTGTAATTCAAATAGTAGTTAGTATACCTAAGACTATGTTTTGTTTTGTTTTTCCACCAGCCTGAACCAAGCAAGTGGCAACTAGATAAGTGGATTAAAAAAGTGAATCCTCACAATAAAGCACTAATTAACACC[C/T]AGGCAGATAGTCATGGGCTTAACAGTTCTCAACCTGATGAAAGCCAAACCTCTGAGAACCAGAGCTACAGCAAGAGCAAGCCCAGCACAGCCCTGGCACCAGCAGACCCCAAGGAGAGAACGTTGCTAAGTCCCATCCGAGAGAAAGCCAAACCCAAGGCTGGTCAGAAGGCTCCAGACAGCAAAAGCACCAAGGTGAAATCACCAGCCTCAGTGGAGCTCGCACCTCCCAGGAGAAGCACTGGAAAGAAGCAGCCCAAAAAGGTGGAGAGATCTTCCAGCAGTGAGGAGCACAACTGGCCAAGACCAGGAAACTCAAGTTCTACCCCAAAAGAGAAAGAGCCGCCGCCTTTAGAACCACCAAAACCTAGAGGCAAGGGCCCTGTGGTCAAGACTGCTCCAAGAAAGGAACCTCGGACCACCACAACAAGCACTGCACCAACTAACATCGCACCAGTTCCAGATAAAAAGAAGCACCGTGGACCCAATAAGATAATTCCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17308
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000074070 | Essential Splice Site | 846 | 1269 | 11 | 21 |
Genomic Location (Zv9):
Chromosome 14 (position 21696743)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 14 | 20398231 |
GRCz11 | 14 | 20695476 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTCTATCCCTRCAGAAAAGAACCCAAGCAAATCRAAGAGGAAACACAAGG[C/A]AAGTCTKAAATGTTGTTGCTCTCGCCTCRTACACTCTATAATTATCAAAT
Long Flanking Sequence:
TAAAAAGAAGCACCGTGGACCCAATAAGATAATTCCCAAGTCTAAGGAATTCATAGAGACTGAGTCTTCTTCATCAGAGTGTCATTCGGACCCCGAGGAGCTCACTAAGGTTCAGCTTCCCTGTCCGGGTCCCAACACCCTAAGCCTGAAATCCAAGGATTGCAACAGCAATATCCTGAGTGTTAGTAGCCTTACCAGCACAAGCAGTACCTCCATTCCTGACCCAGGTGCCTCAGATCTCCTGGAAGAACACCTTTTTTCTCCTATCCCCATTGTACAAAATGAACTTTTGTCACCGCTGAGAGATTTTGAGGACATCAAGTCCCTTTGGGTTAAGATTGAACTCAGCTTCCTGTCGCGGATCCCAGGGCAAGACCCCCCAGAGCCTCCCCCAACCAAGGCTGAGTGCCGGGAGGTCAGCGTCAAGCACAGAAGGCAACAGTCGCCTGCCTCTATCCCTGCAGAAAAGAACCCAAGCAAATCGAAGAGGAAACACAAGG[C/A]AAGTCTTAAATGTTGTTGCTCTCGCCTCGTACACTCTATAATTATCAAATCAAGGGCAGCAATAGAAAAATAATCATGTAATTATTATTTTACAAGTAGTTATTTAGCAGATCCTTGTAGCAACATGCACTTCATTTAGGTAATGTTGAGTTATTATGCCAGAGTTTTGAATAAATAATGACTTCAGTTCAGTCTATAAAGCACACAAAGATATTGTTTGGTATTGTTTATTTGTTACCTAAATGCAAAGTGAATTCTTGCTGAATTTGGTGAGGTTTTTTTCAAATAAATTCATAGAAATATTAATAATAACCATTCAGCACTCAACATATGAGAAAATTGTACAACAAAAGTTAGTGGATACATATTTTCAAAGATTAAGAACTATCTAATGTTTTTTTTTTAGACTGGATGAAGAATCCTTGGATGCTAATAAATAGTTAGTTGCAGGTAGACATAGATTAAACTGTAAAATACTCTTTTCTATTTCCAGAAGAGAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa2742
Status:
F2 line generated
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000074070 | Nonsense | 1032 | 1269 | 15 | 21 |
Genomic Location (Zv9):
Chromosome 14 (position 21707665)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 14 | 20409153 |
GRCz11 | 14 | 20706398 |
KASP Assay ID:
554-2703.1 (used for ordering genotyping assays)
KASP Sequence:
TCTTTACAGTGTTCACAGTGCAGATTACTACATGCAAGAAGCCAAGAAGT[T/A]GAAGCACAAGGCTGATGCTTTGGTAAGTCTGGCTAATATGTTGATGTGCA
Long Flanking Sequence:
CCACGTGGCGATCGTCTAAAATCAATCCAGCTAAATGGCCCTAAAAATGAAAACACTGAGTAGATGCAGAATAGGGGGAAAGTGAATGGATCCTTAATGTATTATTCAAGCTTTTAAAGGCTAATTATCATTTTAATGTTCTCTTGCTTTTCCAGGAGGAAGACAGTCACAGCAAGCCATCGGGTGGTTTTCACGGCAATGGTCAGTCAGAAGCAGACCTCTGGTCAAACCCTTCAGCTCTGACAATGGAGCACATGGAGCCCCGGAGACCTAAACTCACATTTAATAGCACGTACGTAACAGCCATGTGATTATTGAGAGTAATAACTGGCTGATGTACTTAAGACTGATTGAATCAGAGGTGTTGTAGTTCTGCATACTTCAGGTTCATGTTTATGCACACAGTGAAATGTATATGGAAAAAAATCAAACATACTTTAATCACACTTATCTTTACAGTGTTCACAGTGCAGATTACTACATGCAAGAAGCCAAGAAGT[T/A]GAAGCACAAGGCTGATGCTTTGGTAAGTCTGGCTAATATGTTGATGTGCACAATGCAATATTTGCTATATGTTTACATGTGATTGTAACTAAAACCAAAACTTGAATTAAAGCATTACTTATTGTTTCTTAAAATAAAACATTTTAATTATCATCATATTTAATTAGGCTTGGACAAAAAGTGTTTGCATTGTGAGTCTGTATCGACGAATGATTCTGCATCAAGTTTGAAATTGTCTGAATGCACTGTGTTTTTTTTTGCAATCGACTCAGACCTTAGTTTTAACACTAGATGACACTGTAATTTTTCATTTATTTTTTTACATTTAGGCACTCTTATTCCTTACACATACCCCTTGAAAGTAAAACAATCATTAATAAAGATGTTGTTTCAATGAAAAGGGATTTACAGAGTGTTCATGATGAGTTGGGCTTATGATAATCTTGTGGAATTAAAGCTGCGATGTAAGGATATCTGACCACTTACAGTACCGAAAGTAC
Associated Phenotype:
Not determined