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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