Version: 8.0.0
Date: Tue Jan 28 2025
rs1281874766
Variant overlaps ENTREP3
Homo sapiens
SummaryVariant Molecular Consequences
Allele/Variant

rs1281874766

Species
Homo sapiens
Symbol
rs1281874766
Category
Variant
Variant type
SNP
Overlaps
ENTREP3
Location
1:155247808
Nucleotide Change
C>G
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000001.11:g.155247808C>G
HGVS.c name
  • ENSEMBL:ENST00000350210.6:c.1693G>C
  • ENSEMBL:ENST00000361361.7:c.1981G>C
HGVS.p name
  • ENSP00000307128:p.Gly565Arg
  • ENSP00000354958:p.Gly661Arg
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
ENSEMBL:ENST00000350210.6
protein_codingENTREP3Exon 9/9
  • missense variant
1693GggN/A
[565]G/RN/A
=>
Cgg
G/R
ENSEMBL:ENST00000361361.7
protein_codingENTREP3Exon 12/12
  • missense variant
1981GggN/A
[661]G/RN/A
=>
Cgg
G/R
ENSEMBL:ENST00000368366.5
transcriptENTREP3Exon 7/7
  • non coding transcript exon variant
ENSEMBL:ENST00000368368.7
protein_codingENTREP3Exon 11/11
  • missense variant
1927GggN/A
[643]G/RN/A
=>
Cgg
G/R
ENSEMBL:ENST00000487649.5
transcriptENTREP3Exon 5/5
  • non coding transcript exon variant
ENSEMBL:ENST00000491082.2
protein_codingENTREP3Exon 8/8
  • missense variant
1147GggN/A
[383]G/RN/A
=>
Cgg
G/R
ENSEMBL:ENST00000621094.4
protein_codingENTREP3Intron 4/4
  • intron variant
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