Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs747987612
- Species
- Homo sapiens
- Symbol
- rs747987612
- Category
- Variant
- Variant type
- SNP
- Overlaps
- TFB2M
- Location
- 1:246541061
- Nucleotide Change
- C>T
- Most Severe Consequence
- See all consequences
- stop gained
- HGVS.g name
- (GRCh38)1:246541061C>T
- HGVS.c name
- ENSEMBL:ENST00000366514.5:c.1161G>A
- HGVS.p name
- ENSP00000355471:p.Trp387Ter
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr1:246540561...246566261 (25.70 kb)
- Assembly version
- Not Available
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