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SNP ID

rs145243219

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:76303809 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCTCTTCCCCCCAAAGGCAAGCA[C/G]GAGGAGCGGCAGGACGAGCATGGCT

Phenotype

MIM: 602195

Polymorphism

C/G, 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	527	Missense Mutation	CAC,CAG	H124Q	NP_001531.1

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