Allele/Variant

rs749178252

Species
Homo sapiens
Symbol
rs749178252
Category
Variant
Variant type
SNP
Overlaps
PLEKHG4B
Location
5:181654
Nucleotide Change
G>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)5:181654G>A
HGVS.c name
  • ENSEMBL:ENST00000283426.11:c.3475G>A
  • ENSEMBL:ENST00000504041.1:n.1558G>A
HGVS.p name
  • ENSP00000283426:p.Asp1159Asn
  • ENSP00000490806:p.Asp1515Asn
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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