Allele/Variant

rs370542488

Species
Homo sapiens
Symbol
rs370542488
Category
Variant
Variant type
SNP
Overlaps
BTBD7
Location
14:93248604
Nucleotide Change
G>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)14:93248604G>A
HGVS.c name
  • ENSEMBL:ENST00000334746.10:c.1993C>T
  • ENSEMBL:ENST00000355125.3:n.693C>T
HGVS.p name
  • ENSP00000335615:p.Arg665Trp
  • ENSP00000450778:p.Arg280Trp
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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