zgc:194990

Ensembl ID:
ENSDARG00000069407
ZFIN ID:
ZDB-GENE-081022-171
Description:
hypothetical protein LOC568410 [Source:RefSeq peptide;Acc:NP_001124262]
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 is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa34342 Essential Splice Site Mutation detected in F1 DNA During 2018

Mutation Details

Allele Name:
sa34342
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 2018.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000100992 Essential Splice Site 189 410 5 9
ENSDART00000135738 Essential Splice Site 189 410 6 10
Genomic Location (Zv9):
Chromosome 8 (position 13683057)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 13128401
GRCz11 8 13166106
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTGCTGTCGAGCTGCTTATAGGAGCCACTCTTGGAGAACATCTGGACAAG[G/A]TTTGATGCCTTTGGAAACATGCAAAGTCAAAATTACTGAAGTCAAAATTA
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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