Product Details

SNP ID

rs139708227

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:17496143 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCCGGGATACTCAGCTCCGAGTC[G/T]CTCGGGCACATCTTCTTGATCATCG

Phenotype

MIM: 609878 MIM: 602391 MIM: 605550

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

MED9 PubMed Links

Gene Details

Gene

MED9

Gene Name

mediator complex subunit 9

There are no transcripts associated with this gene.

Gene

PEMT

Gene Name

phosphatidylethanolamine N-methyltransferase

There are no transcripts associated with this gene.

Gene

RASD1

Gene Name

ras related dexamethasone induced 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199989.1	253	Missense Mutation			NP_001186918.1
NM_016084.4	253	Missense Mutation			NP_057168.1

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