Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs1057524637
- Species
- Homo sapiens
- Symbol
- rs1057524637
- Category
- Variant
- Variant type
- SNP
- Overlaps
- PURA
- Location
- 5:140114866
- Nucleotide Change
- A>T
- Most Severe Consequence
- See all consequences
- stop gained
- HGVS.g name
- NC_000005.10:g.140114866A>T
- HGVS.c name
- ENSEMBL:ENST00000331327.5:c.685A>T
- ENSEMBL:ENST00000651386.1:c.685A>T
- HGVS.p name
- ENSP00000332706:p.Lys229Ter
- ENSP00000499133:p.Lys229Ter
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr5:140107777...140125619 (17.84 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:ENST00000331327.5 | protein_coding | PURA | Exon 1/1 |
=>
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ENSEMBL:ENST00000651386.1 | protein_coding | PURA | Exon 2/2 |
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RefSeq:NM_005859.5 | protein_coding | PURA | Exon 1/1 |
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