Allele/Variant

rs748667570

Species
Homo sapiens
Symbol
rs748667570
Category
Variant
Variant type
SNP
Overlaps
BLOC1S5
Location
6:8062559
Nucleotide Change
G>A
Most Severe Consequence
  • non coding transcript exon variant
See all consequences
HGVS.g name
  • (GRCh38)6:8062559G>A
HGVS.c name
  • ENSEMBL:ENST00000244777.6:n.187C>T
  • ENSEMBL:ENST00000397456.2:n.451C>T
HGVS.p name
  • ENSP00000380598:p.Thr57Ile
  • ENSP00000445215:p.Thr57Ile
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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