Allele/Variant

rs2136195257

Species
Homo sapiens
Symbol
rs2136195257
Category
Variant
Variant type
SNP
Overlaps
MMAB
Location
12:109559149
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000012.12:g.109559149C>T
HGVS.c name
  • ENSEMBL:ENST00000537496.5:n.701G>A
  • ENSEMBL:ENST00000540016.5:c.435G>A
HGVS.p name
  • ENSP00000445920:p.Val197=
  • ENSP00000474582:p.Val145=
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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