Product Details

SNP ID

rs8053890

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:84055363 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGGAACCCAGAGAAACTCCTCTTGG[C/T]AGCTATAAACTCTTTGGAAGAGTAC

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		Intron			NP_003782.1
XM_017023816.1		Intron			XP_016879305.1
XM_017023817.1		Intron			XP_016879306.1

View Full Product Details