Product Details

SNP ID: rs139798032
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.15:75675968 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCTGCTCTCTGGCTTCCCTGCTTCC[A/G]TCCGGGCGGCCTCGGGGACACTGAG
Phenotype: MIM: 601172
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: CSPG4 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001897.4	6644	Missense Mutation	ACG,ATG	T2184M	NP_001888.2