Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs748238566
- Species
- Homo sapiens
- Symbol
- rs748238566
- Category
- Variant
- Variant type
- SNP
- Overlaps
- MBOAT7
- Location
- 19:54178861
- Nucleotide Change
- C>T
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)19:54178861C>T
- HGVS.c name
- ENSEMBL:ENST00000245615.6:c.935G>A
- ENSEMBL:ENST00000338624.10:c.716G>A
- HGVS.p name
- ENSP00000245615:p.Arg312Gln
- ENSP00000344377:p.Arg239Gln
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr19:54173412...54189882 (16.47 kb)
- Assembly version
- Not Available
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