Allele/Variant

rs755215679

Species
Homo sapiens
Symbol
rs755215679
Category
Variant
Variant type
SNP
Overlaps
SCMH1
Location
1:41037541
Nucleotide Change
C>A
Most Severe Consequence
  • missense variant&splice region variant
See all consequences
HGVS.g name
  • (GRCh38)1:41037541C>A
HGVS.c name
  • ENSEMBL:ENST00000326197.11:c.1469G>T
  • ENSEMBL:ENST00000337495.9:c.1499G>T
HGVS.p name
  • ENSP00000318094:p.Gly490Val
  • ENSP00000337352:p.Gly500Val
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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