Product Details

SNP ID
rs199628698
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.5:54455997 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACGCCACCCCGAGAAGGCAAATCC[C/T]ACTTTCAGATCCTGCTGGACGTGGT
Phenotype
MIM: 604624
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
HSPB3 PubMed Links

Gene Details

Gene
HSPB3
Gene Name
heat shock protein family B (small) member 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006308.2 397 Missense Mutation CAC,TAC H70Y NP_006299.1

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