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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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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:
-
Order Allele From ZIRC
Order Allele From EZRC - 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 (Zv9):
- Chromosome 7 (position 16960265)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 7 15942963 GRCz11 7 16194936 - 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:
- Carotid atherosclerosis in HIV infection: A genome-wide association study of carotid atherosclerosis in HIV-infected men. (View Study)
- Major depressive disorder: Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
Register
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