Product Details

SNP ID

rs114013865

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:61952972 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACTTGTAACACAGTTACCTTGCCC[A/G]CATCACCTCCATGGGGGTAATGAGA

Phenotype

MIM: 603808

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MED13 PubMed Links

Gene Details

Gene

MED13

Gene Name

mediator complex subunit 13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005121.2	5602	Missense Mutation	GCG,GTG	A2037V	NP_005112.2
XM_011525551.2	5602	Missense Mutation	GCG,GTG	A1984V	XP_011523853.1
XM_011525552.2	5602	Intron			XP_011523854.1
XM_011525553.2	5602	Missense Mutation	GCG,GTG	A1814V	XP_011523855.1

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