Version: 8.0.0
Date: Tue Jan 28 2025
rs1191213553
Variant overlaps ABCA12
Homo sapiens
SummaryVariant Molecular Consequences
Allele/Variant

rs1191213553

Species
Homo sapiens
Symbol
rs1191213553
Category
Variant
Variant type
SNP
Overlaps
ABCA12
Location
2:214949141
Nucleotide Change
C>T
Most Severe Consequence
  • non coding transcript exon variant
See all consequences
HGVS.g name
  • (GRCh38)2:214949141C>T
HGVS.c name
  • ENSEMBL:ENST00000272895.12:c.6861G>A
  • ENSEMBL:ENST00000389661.4:c.5907G>A
HGVS.p name
  • ENSP00000272895:p.Gly2287=
  • ENSP00000374312:p.Gly1969=
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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