Product Details

SNP ID
rs144145089
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.15:75675846 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTACCAGGCACATGGGGATGATGA[C/T]GCTGAACATGTTGGCCTCAAGGAAG
Phenotype
MIM: 601172
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
CSPG4 PubMed Links

Gene Details

Gene
CSPG4
Gene Name
chondroitin sulfate proteoglycan 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001897.4 6766 Missense Mutation ATC,GTC I2225V NP_001888.2

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