Allele/Variant

rs201243121

Species
Homo sapiens
Symbol
rs201243121
Category
Variant
Variant type
SNP
Overlaps
BTBD7
Location
14:93248540
Nucleotide Change
T>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000014.9:g.93248540T>C
HGVS.c name
  • ENSEMBL:ENST00000334746.10:c.2057A>G
  • ENSEMBL:ENST00000355125.3:n.757A>G
HGVS.p name
  • ENSP00000335615:p.Tyr686Cys
  • ENSP00000450778:p.Tyr301Cys
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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