Version: 8.1.0Date: Fri Apr 18 2025
Allele/Variant
rs148954553
- Species
- Homo sapiens
- Symbol
- rs148954553
- Category
- Variant
- Variant type
- SNP
- Overlaps
- COBLL1
- Location
- 2:164694966
- Nucleotide Change
- G>A
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000002.12:g.164694966G>A
- HGVS.c name
- ENSEMBL:ENST00000342193.8:c.2540C>T
- ENSEMBL:ENST00000375458.6:c.2426C>T
- HGVS.p name
- ENSP00000341360:p.Pro847Leu
- ENSP00000364607:p.Pro809Leu
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr2:164653624...164843679 (190.06 kb)
- Assembly version
- Not Available
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