Allele/Variant

rs148840512

Species
Homo sapiens
Symbol
rs148840512
Category
Variant
Variant type
SNP
Overlaps
GKAP1
Location
9:83768822
Nucleotide Change
T>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000009.12:g.83768822T>C
HGVS.c name
  • ENSEMBL:ENST00000376365.7:c.585+11560A>G
  • ENSEMBL:ENST00000376371.7:c.734A>G
HGVS.p name
  • ENSP00000365550:p.Asn245Ser
  • XP_005252298:p.Asn245Ser
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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