ZMP
RAPGEF6
Ensembl ID:
Description:
Rap guanine nucleotide exchange factor (GEF) 6 [Source:HGNC Symbol;Acc:20655]
Human Orthologue:
RAPGEF6
Human Description:
Rap guanine nucleotide exchange factor (GEF) 6 [Source:HGNC Symbol;Acc:20655]
Mouse Orthologue:
Rapgef6
Mouse Description:
Rap guanine nucleotide exchange factor (GEF) 6 Gene [Source:MGI Symbol;Acc:MGI:2384761]
Alleles
There is 1 allele of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa14914 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa14914
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 |
---|---|---|---|---|---|
ENSDART00000063714 | Essential Splice Site | 1095 | 1334 | 23 | 28 |
Genomic Location (Zv9):
Chromosome 21 (position 43795240)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 45024114 |
GRCz11 | 21 | 45048254 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTTCTAGAAGCGCGAGTRAAAGCAGCATGTTGAACTGTTTTCTGTCTGC[A/T]GGTTACGCCYTGATGCCCGCGGGTCGCTCTGATCTGTCAGACTCCAGCGA
Long Flanking Sequence:
TGACATTAATGTTAGGCTATATGTAGACACATCCGCTGTTTTACAAGAAAAGTGTCTTGTGGATAGTTCTGCTGCTCTAGATCTGCCGGTTTTGTTCTTGAGTAGACTGATTAATGCATTATTATAGACGTGTTTATGCATTCACAGTGGTATAACCTATTATATGTCCATCCATTTTTATAATTATTAGGATTATTAATTAAGATACAGATCAGAGCAAACCATTTTACTCTATTTAAAGGCATGTGGTTTTAACGTCTGCCAATAATCTGCCAATGAGGGAAGCAGAATAATGTTATTTTAAAGCGAAAACATGATCATTCTGCTTCCCCATTGGCTGAGTATTTAGCTTGTTTTGAGGAGAAACTCATTATATCTGAGAAACATTATATCTGCAGCATGTTTTGCAGCTCTAGAAAATGTCTTGTGATGTCAGGATTTGTAGATATTTGTTCTAGAAGCGCGAGTGAAAGCAGCATGTTGAACTGTTTTCTGTCTGC[A/T]GGTTACGCCCTGATGCCCGCGGGTCGCTCTGATCTGTCAGACTCCAGCGAGATCTCGTCCCGCTCCAGCATCGTCAGCAACTGTTCTGTGGATTCGGGACTCACAGCGGCCCCCGCCAGCGTCCCGGCAGAGACACACACACTCACACACACTCCAGCAGACTGCAGGTACACTCACACACCATCATCACACTGTCATGACGGCCTTTGTCTTTAAGTCTAAGTTGTCTGCCAGCATTTTTGATGACTTTCAGCTCAATTAATTAGAAATACAGGAGGAATACAGAAAGACCGGGAGAGGAGTGTGTCCTTCAGGTGGTTTGTCAAGCCCACTCATTTGTGTGGAGCACACTCATGCATCATACGGTTATGTGCTGCGCCGTGTGTTTGCTTTACTAAAAACATCGGTCTTCAATCTAGTGTTGAACTGAGAGAGTGTGTCTGAGCCTCGGACATTATCAGGAAGGCTATTCCAGAGTTTAGGAGCCATAAATGAGAAGG
Associated Phenotype:
Not determined