Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs1267287718
- Species
- Homo sapiens
- Symbol
- rs1267287718
- Category
- Variant
- Variant type
- SNP
- Overlaps
- TBC1D22A
- Location
- 22:46797455
- Nucleotide Change
- G>A
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000022.11:g.46797455G>A
- HGVS.c name
- ENSEMBL:ENST00000337137.9:c.472G>A
- ENSEMBL:ENST00000355704.7:c.403+3614G>A
- HGVS.p name
- ENSP00000336724:p.Asp158Asn
- ENSP00000370383:p.Asp128Asn
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr22:46762617...47175699 (413.08 kb)
- Assembly version
- Not Available
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