Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs190576327
- Species
- Homo sapiens
- Symbol
- rs190576327
- Category
- Variant
- Variant type
- SNP
- Overlaps
- TXNDC12
- Location
- 1:52055075
- Nucleotide Change
- C>T
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)1:52055075C>T
- HGVS.c name
- ENSEMBL:ENST00000371626.9:c.22G>A
- ENSEMBL:ENST00000472624.5:n.102G>A
- HGVS.p name
- ENSP00000360688:p.Gly8Arg
- ENSP00000476401:p.Gly8Arg
- 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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