Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs1588719771
- Species
- Homo sapiens
- Symbol
- rs1588719771
- Category
- Variant
- Variant type
- SNP
- Overlaps
- CARD9
- Location
- 9:136365142
- Nucleotide Change
- T>C
- Most Severe Consequence
- See all consequences
- missense variant&splice region variant
- HGVS.g name
- (GRCh38)9:136365142T>C
- HGVS.c name
- ENSEMBL:ENST00000371732.10:c.1433A>G
- ENSEMBL:ENST00000371734.7:c.1433A>G
- HGVS.p name
- ENSP00000360797:p.His478Arg
- ENSP00000360799:p.His478Arg
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr9:136363956...136373681 (9.73 kb)
- Assembly version
- Not Available
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