Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs1173496556
- Species
- Homo sapiens
- Symbol
- rs1173496556
- Category
- Variant
- Variant type
- SNP
- Overlaps
- PLEKHM3
- Location
- 2:207976776
- Nucleotide Change
- T>C
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000002.12:g.207976776T>C
- HGVS.c name
- ENSEMBL:ENST00000427836.8:c.1421A>G
- ENSEMBL:ENST00000447645.5:c.675A>G
- HGVS.p name
- ENSP00000395354:p.Gln225=
- ENSP00000400150:p.Lys474Arg
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr2:207821288...208025527 (204.24 kb)
- Assembly version
- Not Available
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