Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs1174517387
- Species
- Homo sapiens
- Symbol
- rs1174517387
- Category
- Variant
- Variant type
- SNP
- Overlaps
- GKAP1
- Location
- 9:83768895
- Nucleotide Change
- G>A
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)9:83768895G>A
- HGVS.c name
- ENSEMBL:ENST00000376365.7:c.585+11487C>T
- ENSEMBL:ENST00000376371.7:c.661C>T
- HGVS.p name
- ENSP00000365550:p.Leu221Phe
- XP_005252298:p.Leu221Phe
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr9:83739425...83829516 (90.09 kb)
- Assembly version
- Not Available
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