Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs1260554040
- Species
- Homo sapiens
- Symbol
- rs1260554040
- Category
- Variant
- Variant type
- SNP
- Overlaps
- BTBD7
- Location
- 14:93246222
- Nucleotide Change
- T>A
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000014.9:g.93246222T>A
- HGVS.c name
- ENSEMBL:ENST00000334746.10:c.2186A>T
- ENSEMBL:ENST00000355125.3:n.886A>T
- HGVS.p name
- ENSP00000335615:p.Gln729Leu
- ENSP00000450778:p.Gln344Leu
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr14:93237550...93333092 (95.54 kb)
- Assembly version
- Not Available
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