Product Details

SNP ID

rs142691743

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:54455814 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATGGCAAAAATCATTTTGAGGCAC[C/T]TCATAGAGATTCCAGTGCGTTACCA

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	214	Missense Mutation	CTC,TTC	L9F	NP_006299.1

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