Allele/Variant

rs1246505337

Species
Homo sapiens
Symbol
rs1246505337
Category
Variant
Variant type
SNP
Overlaps
RBKS
Location
2:27848078
Nucleotide Change
C>T
Most Severe Consequence
  • intron variant&non coding transcript variant
See all consequences
HGVS.g name
  • NC_000002.12:g.27848078C>T
HGVS.c name
  • ENSEMBL:ENST00000302188.8:c.242G>A
  • ENSEMBL:ENST00000448427.1:n.204-46455C>T
HGVS.p name
  • ENSP00000306817:p.Gly81Asp
  • NP_001274509:p.Gly14Asp
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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