Allele/Variant

rs561244725

Species
Homo sapiens
Symbol
rs561244725
Category
Variant
Variant type
SNP
Overlaps
SCMH1
Location
1:41037482
Nucleotide Change
T>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)1:41037482T>C
HGVS.c name
  • ENSEMBL:ENST00000326197.11:c.1528A>G
  • ENSEMBL:ENST00000337495.9:c.1558A>G
HGVS.p name
  • ENSP00000318094:p.Met510Val
  • ENSP00000337352:p.Met520Val
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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