Product Details

SNP ID

rs147193586

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:52378233 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGATCCGGAACTTGTTTGCTGCAGC[A/T]TCTTCCGGGCTTTCCAAATCTAAGG

Phenotype

MIM: 616821

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

THSD1 PubMed Links

Gene Details

Gene

THSD1

Gene Name

thrombospondin type 1 domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018676.3	2282	Missense Mutation	GAA,GAT	E579D	NP_061146.1
NM_199263.2	2282	Missense Mutation	GAA,GAT	E526D	NP_954872.1

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