rfx2

Ensembl ID:
ENSDARG00000013575
ZFIN ID:
ZDB-GENE-050227-4
Description:
DNA-binding protein RFX2 [Source:UniProtKB/Swiss-Prot;Acc:Q5EAP5]
Human Orthologue:
RFX2
Human Description:
regulatory factor X, 2 (influences HLA class II expression) [Source:HGNC Symbol;Acc:9983]
Mouse Orthologue:
Rfx2
Mouse Description:
regulatory factor X, 2 (influences HLA class II expression) Gene [Source:MGI Symbol;Acc:MGI:106583]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa14019 Nonsense Available for shipment Available now
sa31644 Nonsense Available for shipment Available now
sa21260 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa14019
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000029939 Nonsense 113 734 5 18
ENSDART00000122943 Nonsense 113 738 4 18
ENSDART00000132218 Nonsense 83 189 4 6
ENSDART00000133141 Nonsense 83 234 5 7
ENSDART00000147634 Nonsense 83 170 4 5
Genomic Location (Zv9):
Chromosome 8 (position 20638559)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 20068456
GRCz11 8 20100541
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCTTATAAYCCAGAGTCCCAGCTATATGGTCAGGGCAGTGGAAGTGCCTA[T/A]TTCGACTCTCAGGCGGGTGGTGCTCAGGTAACCACAGTCGTCTCTTCTGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa31644
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000029939 Nonsense 403 734 11 18
ENSDART00000122943 Nonsense 403 738 10 18
ENSDART00000132218   None 189 None 6
ENSDART00000133141   None 234 None 7
ENSDART00000147634   None 170 None 5
Genomic Location (Zv9):
Chromosome 8 (position 20622040)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 20051937
GRCz11 8 20084022
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACTCTGGATGTTGTGATGAACCTGCAATTTCATCTCATAGAGAAGCTGTG[G/A]CAGACCTTTTGGCATTCAACAGCGCCCTCTAGTGACGGAGCCACTACCAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21260
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000029939   None 734 18 18
ENSDART00000122943 Nonsense 727 738 18 18
ENSDART00000132218   None 189 None 6
ENSDART00000133141   None 234 None 7
ENSDART00000147634   None 170 None 5
Genomic Location (Zv9):
Chromosome 8 (position 20612354)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 20042251
GRCz11 8 20074336
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGCGTGTGTCTCCTTTAGGTTTTCTGCGACTGTGAAGCAAGAATGTGCTG[G/A]TTTGGTGGCGTGTGGTTTATTTTTCATGTGCCATAGTCTTCTTTCAGTGC
Associated Phenotype:
Not determined

OMIM

OMIM information for RFX2

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