Product Details

SNP ID
rs28989512
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:117286609 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTCCTTTCAGACCCAACTAAATG[A/T]TCTCCTTTCTGCCTTTGATACTCTT
Phenotype
MIM: 604252 MIM: 614263
Polymorphism
A/T, Transversion Substitution
Allele Nomenclature
Literature Links
BACE1 PubMed Links

Gene Details

Gene
BACE1
Gene Name
beta-secretase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001207048.1 4849 UTR 3 NP_001193977.1
NM_001207049.1 4849 UTR 3 NP_001193978.1
NM_012104.4 4849 UTR 3 NP_036236.1
NM_138971.3 4849 UTR 3 NP_620427.1
NM_138972.3 4849 UTR 3 NP_620428.1
NM_138973.3 4849 UTR 3 NP_620429.1
Gene
BACE1-AS
Gene Name
BACE1 antisense RNA
There are no transcripts associated with this gene.

Gene
RNF214
Gene Name
ring finger protein 214
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001077239.1 4849 Intron NP_001070707.1
NM_001278249.1 4849 Intron NP_001265178.1
NM_207343.3 4849 Intron NP_997226.2

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