Product Details

SNP ID
rs148021711
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:47562679 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCACCCTCAAGTTTGGGCGACATG[A/G]AGTTCTGGATGTTAAATGACTCCTC
Phenotype
MIM: 606775
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CSPG5 PubMed Links

Gene Details

Gene
CSPG5
Gene Name
chondroitin sulfate proteoglycan 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001206942.1 1876 Missense Mutation TCC,TTC S376F NP_001193871.1
NM_001206943.1 1876 Missense Mutation TCC,TTC S541F NP_001193872.1
NM_001206944.1 1876 UTR 3 NP_001193873.1
NM_001206945.1 1876 Missense Mutation TCC,TTC S403F NP_001193874.1
NM_006574.3 1876 Missense Mutation TCC,TTC S514F NP_006565.2

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