Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs1052652681
- Species
- Homo sapiens
- Symbol
- rs1052652681
- Category
- Variant
- Variant type
- SNP
- Overlaps
- RBM14
- Location
- 11:66625630
- Nucleotide Change
- G>A
- Most Severe Consequence
- See all consequences
- intron variant
- HGVS.g name
- NC_000011.10:g.66625630G>A
- HGVS.c name
- ENSEMBL:ENST00000310137.5:c.1754G>A
- ENSEMBL:ENST00000393979.3:c.449-831G>A
- HGVS.p name
- ENSP00000311747:p.Arg585Gln
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr11:66616626...66629934 (13.31 kb)
- Assembly version
- Not Available
- Viewer Help
Data currently unavailable; sequence viewer under construction
Variant Molecular Consequences
Sequence feature | Sequence feature type | Associated gene | Location | Molecular consequence | Codon and amino acid change | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENSEMBL:ENST00000310137.5 | protein_coding | RBM14 | Exon 2/3 |
=>
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ENSEMBL:ENST00000393979.3 | protein_coding | RBM14 | Intron 2/2 |
| ||||||||||||
ENSEMBL:ENST00000409738.4 | protein_coding | RBM14 | Intron 1/1 |
| ||||||||||||
ENSEMBL:ENST00000412278.2 | protein_coding | RBM14-RBM4 | Intron 1/2 |
| ||||||||||||
ENSEMBL:ENST00000421355.1 | transcript | RBM14-RBM4 | Intron 1/2 |
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ENSEMBL:ENST00000500635.2 | protein_coding | RBM14-RBM4 | Intron 1/1 |
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ENSEMBL:ENST00000511114.1 | transcript | RBM14-RBM4 | Intron 1/1 |
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RefSeq:NM_001198846.2 | protein_coding | RBM14-RBM4 | Intron 1/2 |
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