Product Details

SNP ID
rs114015043
Assay Type
Functionally Tested
NCBI dbSNP Submissions
18
Location
Chr.1:21823637 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTACCGATGTAGACGCTGCCCTTGG[C/T]GTTGACTGCCACGTTGGGACCTGGG
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 13062 Missense Mutation ACC,GCC T4329A NP_001278789.1
NM_005529.6 13062 Missense Mutation ACC,GCC T4328A NP_005520.4
XM_011541318.2 13062 Missense Mutation ACC,GCC T4511A XP_011539620.1
XM_017001120.1 13062 Missense Mutation ACC,GCC T4393A XP_016856609.1
XM_017001121.1 13062 Missense Mutation ACC,GCC T4376A XP_016856610.1
XM_017001122.1 13062 Missense Mutation ACC,GCC T4375A 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 13062 UTR 3 NP_001013715.2
XM_005245873.4 13062 Intron XP_005245930.1

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