Allele/Variant

rs2102703751

Species
Homo sapiens
Symbol
rs2102703751
Category
Variant
Variant type
SNP
Overlaps
SDE2
Location
1:225991294
Nucleotide Change
G>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)1:225991294G>A
HGVS.c name
  • ENSEMBL:ENST00000272091.8:c.590C>T
  • RefSeq:NM_152608.4:c.590C>T
HGVS.p name
  • ENSP00000272091:p.Thr197Ile
  • NP_689821:p.Thr197Ile
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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