btr04

Ensembl ID:
ENSDARG00000060962
ZFIN ID:
ZDB-GENE-060825-109
Description:
Zgc:153080 [Source:UniProtKB/TrEMBL;Acc:Q0P4D7]
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
sa17578 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa17578
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000102320 Essential Splice Site None 419 None 7
ENSDART00000138523 Essential Splice Site None 440 None 7
Genomic Location:
Chromosome 7 (position 16960265)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCGAATTTCTATGCCTTGTCGGWAGGTTTTTCCACGCTCACGAGAAAACG[T/G]AAGTATTTTACATATTGATGGAAAAGTGGCTCATTCAGTTTGGTTTGAGC
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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* quick link - http://q.sanger.ac.uk/dr7swx5p