Product Details

SNP ID
rs149768061
Assay Type
Functionally tested
NCBI dbSNP Submissions
16
Location
Chr.1:54010294 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCAGACCCCTACCTGGGCTCAGTT[A/C]ATCTGAACAGTCCCCGCAGTTGTTA
Phenotype
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
LDLRAD1 PubMed Links

Gene Details

Gene
LDLRAD1
Gene Name
low density lipoprotein receptor class A domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001010978.3 402 Nonsense Mutation GAA,TAA E153* NP_001010978.2
NM_001276392.1 402 Nonsense Mutation GAA,TAA E114* NP_001263321.1
NM_001276393.1 402 Nonsense Mutation GAA,TAA E110* NP_001263322.1
NM_001276394.1 402 Nonsense Mutation GAA,TAA E64* NP_001263323.1
NM_001276395.1 402 Missense Mutation ATG,ATT M99I NP_001263324.1
XM_011541446.1 402 Nonsense Mutation GAA,TAA E152* XP_011539748.1
XM_017001264.1 402 Missense Mutation ATG,ATT M99I XP_016856753.1

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