Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs778356223
- Species
- Homo sapiens
- Symbol
- rs778356223
- Category
- Variant
- Variant type
- SNP
- Overlaps
- IGF2BP1
- Location
- 17:49043976
- Nucleotide Change
- G>A
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)17:49043976G>A
- HGVS.c name
- ENSEMBL:ENST00000290341.8:c.1210G>A
- ENSEMBL:ENST00000431824.2:c.793G>A
- HGVS.p name
- ENSP00000290341:p.Glu404Lys
- ENSP00000389135:p.Glu265Lys
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr17:48996558...49056145 (59.59 kb)
- Assembly version
- Not Available
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