Product Details

SNP ID

rs1803867

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:84054145 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTTTGGAAAGTACATCCTTCCCCT[A/G]CAGTCAGAAGACCCCAGACAGCCTT

Phenotype

MIM: 603355

Polymorphism

A/G, 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	3996	UTR 3			NP_003782.1
XM_017023816.1	3996	UTR 3			XP_016879305.1
XM_017023817.1	3996	UTR 3			XP_016879306.1

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