Product Details

SNP ID

rs143812963

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:21839766 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGGTGTCGCTGGTGGTGGTGGTGG[G/T]GGGTGGCTGGACTGTCGTCTACCTG

Phenotype

MIM: 300294

Polymorphism

G/T, Transversion 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	229	Missense Mutation	GGG,GTG	G11V	NP_056968.1

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