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SNP ID

rs116316900

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:21823347 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGCAGGGGCGTGTGTTGGCCCCG[G/T]CCTGGGCGCGGTGCTGCAGGTCCAG

Phenotype

MIM: 142461

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

HSPG2 PubMed Links

Gene Details

Gene

HSPG2

Gene Name

heparan sulfate proteoglycan 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001291860.1	13225	Missense Mutation	GAC,GCC	D4383A	NP_001278789.1
NM_005529.6	13225	Missense Mutation	GAC,GCC	D4382A	NP_005520.4
XM_011541318.2	13225	Missense Mutation	GAC,GCC	D4565A	XP_011539620.1
XM_017001120.1	13225	Missense Mutation	GAC,GCC	D4447A	XP_016856609.1
XM_017001121.1	13225	Missense Mutation	GAC,GCC	D4430A	XP_016856610.1
XM_017001122.1	13225	Missense Mutation	GAC,GCC	D4429A	XP_016856611.1

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	13225	UTR 3			NP_001013715.2
XM_005245873.4	13225	Intron			XP_005245930.1

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