Product Details

SNP ID

rs183417829

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:75675928 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGGCTGGATGCCATGGGGCCTGG[A/C]TCGCCTGTGGGGGTGCTGCTCTCTG

Phenotype

MIM: 601172

Polymorphism

A/C, Transversion 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	6684	Missense Mutation	GAG,GAT	E2197D	NP_001888.2

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