Allele/Variant

rs1060250

Species
Homo sapiens
Symbol
rs1060250
Category
Variant
Variant type
SNP
Overlaps
SLC7A5
Location
16:87841130
Nucleotide Change
G>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000016.10:g.87841130G>C
HGVS.c name
  • ENSEMBL:ENST00000261622.5:c.690C>G
  • ENSEMBL:ENST00000565644.6:c.-109C>G
HGVS.p name
  • ENSP00000261622:p.Asn230Lys
  • NP_003477:p.Asn230Lys
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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