Allele/Variant

rs781371012

Species
Homo sapiens
Symbol
rs781371012
Category
Variant
Variant type
SNP
Overlaps
RBBP8NL
Location
20:62413823
Nucleotide Change
T>C
Most Severe Consequence
  • missense variant&splice region variant
See all consequences
HGVS.g name
  • NC_000020.11:g.62413823T>C
HGVS.c name
  • ENSEMBL:ENST00000252998.2:c.1528A>G
  • RefSeq:NM_080833.3:c.1528A>G
HGVS.p name
  • ENSP00000252998:p.Met510Val
  • NP_543023:p.Met510Val
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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