Product Details

SNP ID

rs199715708

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:21823711 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCGTCGACTTGGATGGAACCTCTG[C/T]GGCCCTCCCTGCAGTGGAACTGGGT

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001291860.1	12988	Missense Mutation	CAC,CGC	H4304R	NP_001278789.1
NM_005529.6	12988	Missense Mutation	CAC,CGC	H4303R	NP_005520.4
XM_011541318.2	12988	Missense Mutation	CAC,CGC	H4486R	XP_011539620.1
XM_017001120.1	12988	Missense Mutation	CAC,CGC	H4368R	XP_016856609.1
XM_017001121.1	12988	Missense Mutation	CAC,CGC	H4351R	XP_016856610.1
XM_017001122.1	12988	Missense Mutation	CAC,CGC	H4350R	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	12988	UTR 3			NP_001013715.2
XM_005245873.4	12988	Intron			XP_005245930.1

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