Product Details

SNP ID: rs1048162
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.11:117285725 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TGACTTCTTATTGAATATTTTACTG[G/T]GTTAACGCTCATTATTTATACAGAC
Phenotype: MIM: 604252 MIM: 614263
Polymorphism: G/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	5733	UTR 3			NP_001193977.1
NM_001207049.1	5733	UTR 3			NP_001193978.1
NM_012104.4	5733	UTR 3			NP_036236.1
NM_138971.3	5733	UTR 3			NP_620427.1
NM_138972.3	5733	UTR 3			NP_620428.1
NM_138973.3	5733	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	5733	Intron			NP_001070707.1
NM_001278249.1	5733	Intron			NP_001265178.1
NM_207343.3	5733	Intron			NP_997226.2

View Full Product Details