Allele/Variant

rs750758972

Species
Homo sapiens
Symbol
rs750758972
Category
Variant
Variant type
SNP
Overlaps
TXNDC9
Location
2:99322130
Nucleotide Change
T>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000002.12:g.99322130T>C
HGVS.c name
  • ENSEMBL:ENST00000264255.8:c.388A>G
  • ENSEMBL:ENST00000409434.5:c.388A>G
HGVS.p name
  • ENSP00000264255:p.Lys130Glu
  • ENSP00000386889:p.Lys130Glu
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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