Product Details

SNP ID

rs149103241

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:39582426 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCCCTGAGGCAGATGAAGAAGACC[C/G]GGGGCACGCTGCTGGCCCTGGAGCG

Phenotype

MIM: 188060

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

THBS1 PubMed Links

Gene Details

Gene

THBS1

Gene Name

thrombospondin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003246.3	476	Missense Mutation	CGG,GGG	R101G	NP_003237.2
XM_011521971.1	476	Missense Mutation	CGG,GGG	R101G	XP_011520273.1

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