Allele/Variant

rs2153113084

Species
Homo sapiens
Symbol
rs2153113084
Category
Variant
Variant type
SNP
Overlaps
PHOX2B
Location
4:41748598
Nucleotide Change
C>A
Most Severe Consequence
  • intron variant&non coding transcript variant
See all consequences
HGVS.g name
  • (GRCh38)4:41748598C>A
HGVS.c name
  • ENSEMBL:ENST00000226382.4:c.13G>T
  • ENSEMBL:ENST00000508038.2:n.294+12C>A
HGVS.p name
  • ENSP00000226382:p.Glu5Ter
  • NP_003915:p.Glu5Ter
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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