Allele/Variant

rs778528523

Species
Homo sapiens
Symbol
rs778528523
Category
Variant
Variant type
SNP
Overlaps
TFB2M
Location
1:246544522
Nucleotide Change
G>A
Most Severe Consequence
  • missense variant&splice region variant
See all consequences
HGVS.g name
  • NC_000001.11:g.246544522G>A
HGVS.c name
  • ENSEMBL:ENST00000366514.5:c.1018C>T
HGVS.p name
  • ENSP00000355471:p.Arg340Cys
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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