Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs749566488
- Species
- Homo sapiens
- Symbol
- rs749566488
- Category
- Variant
- Variant type
- SNP
- Overlaps
- RBBP8NL
- Location
- 20:62415905
- Nucleotide Change
- G>C
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)20:62415905G>C
- HGVS.c name
- ENSEMBL:ENST00000252998.2:c.427C>G
- RefSeq:NM_080833.3:c.427C>G
- HGVS.p name
- ENSP00000252998:p.Pro143Ala
- NP_543023:p.Pro143Ala
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr20:62410237...62427539 (17.30 kb)
- Assembly version
- Not Available
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