Allele/Variant

rs200048180

Species
Homo sapiens
Symbol
rs200048180
Category
Variant
Variant type
SNP
Overlaps
TMEM39B
Location
1:32091944
Nucleotide Change
A>G
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)1:32091944A>G
HGVS.c name
  • ENSEMBL:ENST00000336294.10:c.860A>G
  • ENSEMBL:ENST00000441402.5:n.726A>G
HGVS.p name
  • ENSP00000338165:p.Lys287Arg
  • NP_001306606:p.Lys160Arg
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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