Version: 8.1.0Date: Fri Apr 18 2025
Allele/Variant
rs199849902
- Species
- Homo sapiens
- Symbol
- rs199849902
- Category
- Variant
- Variant type
- SNP
- Overlaps
- TXNDC12
- Location
- 1:52024519
- Nucleotide Change
- G>C
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)1:52024519G>C
- HGVS.c name
- ENSEMBL:ENST00000371626.9:c.346C>G
- ENSEMBL:ENST00000471493.1:n.138C>G
- HGVS.p name
- ENSP00000360688:p.Leu116Val
- ENSP00000520430:p.Leu116Val
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr1:52020131...52056171 (36.04 kb)
- Assembly version
- Not Available
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