Allele/Variant

rs1280396

Species
Homo sapiens
Symbol
rs1280396
Category
Variant
Variant type
SNP
Overlaps
CGNL1
Location
15:57439530
Nucleotide Change
A>G
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)15:57439530A>G
HGVS.c name
  • ENSEMBL:ENST00000281282.6:c.1531A>G
  • RefSeq:NM_001252335.2:c.1531A>G
HGVS.p name
  • ENSP00000281282:p.Thr511Ala
  • NP_001239264:p.Thr511Ala
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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