Product Details

SNP ID
hCV25764888
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:52377872 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTCAGGAAACAGGTGGGCACCTC[C/G]ACTCTGAGGCCTAAATCTGTCCTCT
Phenotype
MIM: 616821
Polymorphism
C/G, 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 2643 Missense Mutation CGA,GGA R700G NP_061146.1
NM_199263.2 2643 Missense Mutation CGA,GGA R647G NP_954872.1

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