Product Details

SNP ID
rs140391611
Assay Type
Functionally tested
NCBI dbSNP Submissions
7
Location
Chr.1:168696586 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAATTCACAGTCGTATTCAGTCATC[C/T]GGCACATTATGAACTTCCACTGGCG
Phenotype
MIM: 125597
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DPT PubMed Links

Gene Details

Gene
DPT
Gene Name
dermatopontin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001937.4 599 Missense Mutation CAG,CGG Q190R NP_001928.2

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