Allele/Variant

rs749848420

Species
Homo sapiens
Symbol
rs749848420
Category
Variant
Variant type
SNP
Overlaps
ABCA12
Location
2:214948630
Nucleotide Change
C>A
Most Severe Consequence
  • intron variant&non coding transcript variant
See all consequences
HGVS.g name
  • (GRCh38)2:214948630C>A
HGVS.c name
  • ENSEMBL:ENST00000272895.12:c.7070G>T
  • ENSEMBL:ENST00000389661.4:c.6116G>T
HGVS.p name
  • ENSP00000272895:p.Arg2357Met
  • ENSP00000374312:p.Arg2039Met
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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