Product Details

SNP ID

rs122468177

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:21845207 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAATGGTGTTTGGCGTAATTGCCAT[A/G]TTTAGCTCATTTTTTCTCCTTGGAA

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	458	Missense Mutation	ATA,ATG	I87M	NP_056968.1

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