ENSDARG00000095113

Ensembl ID:
ENSDARG00000095113
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
sa5790 Essential Splice Site F2 line generated During 2014
sa15375 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa5790
Current Status:
F2 line generated
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 2014.
Mutation:
A > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000144029 None 9 532 1 6
ENSDART00000147632 Essential Splice Site 10 531 None 7
Genomic Location:
Chromosome 15 (position 17140390)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGTATTAATGAATTTTATGTGATAAATGGTTCTTCTTCATGTTTGTCTTC[A/G]GCTCTGTCAGAGGAGCTCCAGTGCTCAATCTGTCTGGATGCRTTCACTGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15375
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000144029 Nonsense 387 532 6 6
ENSDART00000147632 Nonsense 387 531 7 7
Genomic Location:
Chromosome 15 (position 17133771)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GRAAACAAGTGACAAATGGYGACATCAAGCTTGAACTCCCAGACAACCCA[G/T]AGCGGTTTAGCACTTGTTGCTGTGTCCTGGCCAAAGAGGGATTCAACTCG
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/.)

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/z5mkiqkg