Allele/Variant

rs2153113082

Species
Homo sapiens
Symbol
rs2153113082
Category
Variant
Variant type
SNP
Overlaps
PHOX2B
Location
4:41748594
Nucleotide Change
T>C
Most Severe Consequence
  • splice region variant&intron variant&non coding transcript variant
See all consequences
HGVS.g name
  • NC_000004.12:g.41748594T>C
HGVS.c name
  • ENSEMBL:ENST00000226382.4:c.17A>G
  • ENSEMBL:ENST00000508038.2:n.294+8T>C
HGVS.p name
  • ENSP00000226382:p.Tyr6Cys
  • NP_003915:p.Tyr6Cys
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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