Product Details

SNP ID

rs149889191

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:21843312 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGACGGCGGAAAGCAAGGATGCTTT[A/G]CCAATGGTATTCTTCATCTTCTTTT

Phenotype

MIM: 300294

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MBTPS2 PubMed Links

Gene Details

Gene

MBTPS2

Gene Name

membrane bound transcription factor peptidase, site 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015884.3	415	Missense Mutation	TAC,TGC	Y73C	NP_056968.1

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