Product Details

SNP ID

rs76005272

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:47588284 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCTGCAGGTGGTGGTGGCGGTGG[C/G]TGCTGCTGTGGTGGAGGGGGATCTG

Phenotype

MIM: 606775 MIM: 601732

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CSPG5 PubMed Links

Gene Details

Gene

CSPG5

Gene Name

chondroitin sulfate proteoglycan 5

There are no transcripts associated with this gene.

Gene

SMARCC1

Gene Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003074.3	3092	Missense Mutation	CAC,CAG	H1081Q	NP_003065.3
XM_011534034.1	3092	Missense Mutation	CAC,CAG	H972Q	XP_011532336.1

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