Product Details

SNP ID

rs201003467

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:21815963 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCAGGACCTTGTGGTGCCTACTTC[C/T]GCTGCCAGAATGGCAGGTGCATCCC

Phenotype

MIM: 142461

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HSPG2 PubMed Links

Gene Details

Gene

HSPG2

Gene Name

heparan sulfate proteoglycan 2

There are no transcripts associated with this gene.

Gene

LDLRAD2

Gene Name

low density lipoprotein receptor class A domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001013693.2	719	Missense Mutation	CGC,TGC	R178C	NP_001013715.2
XM_005245873.4	719	Missense Mutation	CGC,TGC	R178C	XP_005245930.1

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