Version: 8.1.0Date: Fri Apr 18 2025
Allele/Variant
rs142539985
- Species
- Homo sapiens
- Symbol
- rs142539985
- Category
- Variant
- Variant type
- SNP
- Overlaps
- SEPTIN12
- Location
- 16:4783729
- Nucleotide Change
- A>T
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)16:4783729A>T
- HGVS.c name
- ENSEMBL:ENST00000268231.13:c.550T>A
- ENSEMBL:ENST00000396693.9:c.412T>A
- HGVS.p name
- ENSP00000268231:p.Cys184Ser
- ENSP00000379922:p.Cys138Ser
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr16:4777606...4791828 (14.22 kb)
- Assembly version
- Not Available
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