Allele/Variant

rs2105430255

Species
Homo sapiens
Symbol
rs2105430255
Category
Variant
Variant type
SNP
Overlaps
COBLL1
Location
2:164694946
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)2:164694946C>T
HGVS.c name
  • ENSEMBL:ENST00000342193.8:c.2560G>A
  • ENSEMBL:ENST00000375458.6:c.2446G>A
HGVS.p name
  • ENSP00000341360:p.Asp854Asn
  • ENSP00000364607:p.Asp816Asn
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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