Allele/Variant

rs748517725

Species
Homo sapiens
Symbol
rs748517725
Category
Variant
Variant type
SNP
Overlaps
ACOXL
Location
2:110798706
Nucleotide Change
A>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)2:110798706A>T
HGVS.c name
  • ENSEMBL:ENST00000340561.8:c.442A>T
  • ENSEMBL:ENST00000389811.8:c.442A>T
HGVS.p name
  • ENSP00000343717:p.Ile148Leu
  • ENSP00000374461:p.Ile148Leu
Synonyms
Not Available
Notes
Not Available
Cross references
Not Available
References
Not Available

Genome location
Assembly version
Not Available
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Variant Molecular Consequences

Sequence feature
Sequence feature type
Associated gene
Location
Molecular consequence
Codon and amino acid change
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