Allele/Variant

rs2139755269

Species
Homo sapiens
Symbol
rs2139755269
Category
Variant
Variant type
SNP
Overlaps
TECPR2
Location
14:102452487
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)14:102452487C>T
HGVS.c name
  • ENSEMBL:ENST00000359520.12:c.3500C>T
  • ENSEMBL:ENST00000558678.1:c.3500C>T
HGVS.p name
  • ENSP00000352510:p.Pro1167Leu
  • ENSP00000453671:p.Pro1167Leu
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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