Product Details

SNP ID

rs17850892

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:76303038 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCAACCACTTCGCCCCGGACGAGC[G/T]GACGGTCAAGACCAAGGATGGCGTG

Phenotype

MIM: 602195

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

HSPB1 PubMed Links

Gene Details

Gene

HSPB1

Gene Name

heat shock protein family B (small) member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001540.3	481	Missense Mutation	CGG,CTG	R109L	NP_001531.1

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