LOC799840

Ensembl ID:
ENSDARG00000008164
Human Orthologues:
CTD-2611O12.2, CTD-2611O12.3, ERMAP, RFPL1, RFPL2, RFPL3, RFPL4A, RFPL4B
Human Descriptions:
erythroblast membrane-associated protein (Scianna blood group) [Source:HGNC Symbol;Acc:15743]
ret finger protein-like 1 [Source:HGNC Symbol;Acc:9977]
ret finger protein-like 2 [Source:HGNC Symbol;Acc:9979]
ret finger protein-like 3 [Source:HGNC Symbol;Acc:9980]
ret finger protein-like 4A [Source:HGNC Symbol;Acc:16449]
ret finger protein-like 4B [Source:HGNC Symbol;Acc:33264]
Mouse Orthologues:
Ermap, Rfpl4
Mouse Descriptions:
erythroblast membrane-associated protein Gene [Source:MGI Symbol;Acc:MGI:1349816]
ret finger protein-like 4 Gene [Source:MGI Symbol;Acc:MGI:2149590]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa12068 Nonsense Available for shipment Available now
sa5988 Essential Splice Site Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa12068
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
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Mutation:
G > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000066816 Nonsense 315 532 5 7
Genomic Location (Zv9):
Chromosome 24 (position 7822675)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 7679967
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GTGAGRTGCCACACTGTAAAAGCTGGTCTYAGATCAGTGCTCACACCTGT[G/T]AGGGTCTGGAATTGYTGAGAGAAACCCTGAATGCAGCAGAAGAACTTCTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa5988
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000066816 Essential Splice Site 351 532 6 7
Genomic Location (Zv9):
Chromosome 24 (position 7822868)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 7680160
KASP Assay ID:
554-3899.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTATTTTTTTATTTTCCCACAGAACTTGAGGCCWTATCTCAGTATGCAGG[T/C]AATATAATATTTTTAAAAGACAKAATCTTTCATAAACTTACTATAACACA
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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