Product Details

SNP ID

rs200904268

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:21857433 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGCCCTTTCAGTGCACATTCGAA[G/T]GCTGCGGGAAACGCTTTTCCCTTGA

Phenotype

MIM: 300294 MIM: 300570

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	1447	Intron			NP_056968.1

Gene

YY2

Gene Name

YY2 transcription factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_206923.3	1447	Missense Mutation	GGC,TGC	G317C	NP_996806.2

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