Product Details

SNP ID

rs145247799

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:61953049 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGGAGAAGCAGGAAGGATATTAAT[A/G]ATATCAGGGTCAAGATCATCTCCTG

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	5525	Silent Mutation	ATC,ATT	I2011I	NP_005112.2
XM_011525551.2	5525	Silent Mutation	ATC,ATT	I1958I	XP_011523853.1
XM_011525552.2	5525	Intron			XP_011523854.1
XM_011525553.2	5525	Silent Mutation	ATC,ATT	I1788I	XP_011523855.1

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