Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs563968407
- Species
- Homo sapiens
- Symbol
- rs563968407
- Category
- Variant
- Variant type
- SNP
- Overlaps
- SCYL2
- Location
- 12:100317699
- Nucleotide Change
- G>A
- Most Severe Consequence
- See all consequences
- splice region variant&intron variant
- HGVS.g name
- (GRCh38)12:100317699G>A
- HGVS.c name
- ENSEMBL:ENST00000360820.7:c.1273-104G>A
- ENSEMBL:ENST00000549687.5:c.1273-104G>A
- HGVS.p name
- Not Available
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr12:100267140...100341715 (74.58 kb)
- Assembly version
- Not Available
- Viewer Help
Data currently unavailable; sequence viewer under construction
Variant Molecular Consequences
Sequence feature | Sequence feature type | Associated gene | Location | Molecular consequence | Codon and amino acid change | |||
|---|---|---|---|---|---|---|---|---|
ENSEMBL:ENST00000360820.7 | protein_coding | SCYL2 | Intron 9/17 |
| ||||
ENSEMBL:ENST00000549687.5 | protein_coding | SCYL2 | Intron 9/16 |
| ||||
ENSEMBL:ENST00000550251.2 | transcript | SCYL2 | Intron 1/4 |
| ||||
ENSEMBL:ENST00000635101.1 | protein_coding | SCYL2 | Intron 10/18 |
| ||||
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