Product Details

SNP ID

rs138835109

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:93821076 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGTGATGACATAGTAGCCGGAATC[C/G]CTCACTCCCACGCTGAAGAGCTGGA

Phenotype

MIM: 603810

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

MED17 PubMed Links

Gene Details

Gene

MED17

Gene Name

mediator complex subunit 17

There are no transcripts associated with this gene.

Gene

VSTM5

Gene Name

V-set and transmembrane domain containing 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001144871.1	339	Missense Mutation	AGC,AGG	S113R	NP_001138343.1

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