Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs1237549253
- Species
- Homo sapiens
- Symbol
- rs1237549253
- Category
- Variant
- Variant type
- SNP
- Overlaps
- HPSE2
- Location
- 10:98459739
- Nucleotide Change
- C>A
- Most Severe Consequence
- See all consequences
- missense variant&splice region variant
- HGVS.g name
- (GRCh38)10:98459739C>A
- HGVS.c name
- ENSEMBL:ENST00000370546.5:c.*37G>T
- ENSEMBL:ENST00000370549.5:c.1440G>T
- HGVS.p name
- ENSP00000359580:p.Lys480Asn
- ENSP00000359583:p.Lys538Asn
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr10:98457077...99315951 (858.87 kb)
- Assembly version
- Not Available
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