Allele/Variant

rs1292697705

Species
Homo sapiens
Symbol
rs1292697705
Category
Variant
Variant type
SNP
Overlaps
DESI2
Location
1:244691910
Nucleotide Change
C>G
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)1:244691910C>G
HGVS.c name
  • ENSEMBL:ENST00000263831.11:c.142C>G
  • ENSEMBL:ENST00000302550.16:c.241C>G
HGVS.p name
  • ENSP00000263831:p.Leu48Val
  • ENSP00000306528:p.Leu81Val
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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