Product Details

SNP ID
rs146299475
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:84056017 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCGAGAACTCACCTCCAGGAATGT[C/T]CCAGGCGCCGCTCTCTCCAGGGGAC
Phenotype
MIM: 603355
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MBTPS1 PubMed Links

Gene Details

Gene
MBTPS1
Gene Name
membrane bound transcription factor peptidase, site 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003791.3 3483 Missense Mutation AAC,GAC N984D NP_003782.1
XM_017023816.1 3483 Missense Mutation AAC,GAC N543D XP_016879305.1
XM_017023817.1 3483 Missense Mutation AAC,GAC N488D XP_016879306.1

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