Allele/Variant

rs1380243762

Species
Homo sapiens
Symbol
rs1380243762
Category
Variant
Variant type
SNP
Overlaps
C1QL4
Location
12:49336245
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)12:49336245C>T
HGVS.c name
  • ENSEMBL:ENST00000334221.5:c.233G>A
HGVS.p name
  • ENSP00000335285:p.Arg78Lys
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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