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SNP ID

rs147724326

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:54456060 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAAGACATCATCATTCAGACCTTC[A/G]AAGGCTGGCTGCTGATAAAAGCACA

Phenotype

MIM: 604624

Polymorphism

A/G, 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	460	Missense Mutation	AAA,GAA	K91E	NP_006299.1

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