Product Details

SNP ID

rs201692616

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:21814417 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCAGCCGACCTGGCGGAACTGTG[C/G]GGGCAGACGTGGCAGGGGGACGGGC

Phenotype

MIM: 142461

Polymorphism

C/G, Transversion 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	292	Missense Mutation	TGC,TGG	C35W	NP_001013715.2
XM_005245873.4	292	Missense Mutation	TGC,TGG	C35W	XP_005245930.1

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