ZMP
AFF1
Ensembl ID:
Description:
AF4/FMR2 family, member 1 [Source:HGNC Symbol;Acc:7135]
Human Orthologue:
AFF1
Human Description:
AF4/FMR2 family, member 1 [Source:HGNC Symbol;Acc:7135]
Mouse Orthologue:
Aff1
Mouse Description:
AF4/FMR2 family, member 1 Gene [Source:MGI Symbol;Acc:MGI:1100819]
Alleles
There is 1 allele of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa14947 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa14947
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 |
---|---|---|---|---|---|
ENSDART00000125110 | Essential Splice Site | 400 | 439 | 10 | 11 |
Genomic Location (Zv9):
Chromosome 21 (position 121284)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 27139 |
GRCz11 | 21 | 183854 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCTCACGACACCTGGGAGCAGGCGGAGCAGCTGGCACACAGCGGCAGCGG[T/C]GAGACCCTACACACCTGCGCTCRCTGTCATTATGGGCTGTGTCCTCTGCT
Long Flanking Sequence:
CTGCTGCAGTGTGTGTGTGTGTTCAGTCTGCTGTTGTGTGTTTTCAGAGCTCGTCCTGCTCTGCGTCCCCCAGTGTGTCCAGGTGAGCGTCTCCTTCTGCACTGATGATCATCACGCAGCCGGCTCTGCAATGCTCTGTGTGTGTGCATGTGTCTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCATGTGTCTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTATGTATGTATGTATGTATATGTATGGATGTACGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTACAGGGGTGGTGTTGTCTCCCCTGTGGACGCGGGCGTGTCACTCGTCATTTCTCCGCCGGTGCAGCAGATGGCGCTGGCGTATGTCAACATCACAGCGCTCGTCCTGAACGCTCACGACACCTGGGAGCAGGCGGAGCAGCTGGCACACAGCGGCAGCGG[T/C]GAGACCCTACACACCTGCGCTCACTGTCATTATGGGCTGTGTCCTCTGCTGGTGTGGCAGATCTCCACAGTGAACACTGATCTCAGACCTGCTGCATTAGTCAGTGTTATTGCTGTAGTAATGTTGTGTCTCTCTCTCACTGATCTCAGGTCTGCTGCAGGATCTGGATGCGTCCGTCGGGCCTCTGAGTCTGAGCTCCCCCATCAGTGCACTGCTGCAGTACACACACCTCGGCCTGCAGCGCCTCAGACTGCACACACACACACACTGAAGAGCAGCTCAGTCTACGCACACGCACACACACACACACACCGTGTTGCTGTCGGAGCAGAGGTGCTTTTCCGTTGTGTTTTGCTGAGCTGCAGTGTTATTGATTAGCTTATTGATCAGGGTATTGATCAGGGTATTGATCATCTTTTTCATTGTCATATGTGACCTTTGACTCATGTTGGTGTGTCTGACCTCTGACCTCATGCTTGTCTTCAGTTGTGACACACTCA
Associated Phenotype:
Not determined