Product Details

SNP ID

rs1044519

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:61946240 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGGTTAATTTTGCTACGAAAATGT[G/T]ATAATACGTTTTGTATGATCAGTCA

Phenotype

MIM: 603808

Polymorphism

G/T, Transversion 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	6245	UTR 3			NP_005112.2
XM_011525551.2	6245	UTR 3			XP_011523853.1
XM_011525552.2	6245	Intron			XP_011523854.1
XM_011525553.2	6245	UTR 3			XP_011523855.1

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