Product Details

SNP ID

rs111493766

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:40654501 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAAGCCATGTCATAAATGATTGGA[A/G]CTATAATACTAACAGGTTCTTGGGG

Phenotype

MIM: 300182

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CXorf38 PubMed Links

Gene Details

Gene

CXorf38

Gene Name

chromosome X open reading frame 38

There are no transcripts associated with this gene.

Gene

MED14

Gene Name

mediator complex subunit 14

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004229.3	4204	Missense Mutation	GCT,GTT	A1385V	NP_004220.2
XM_005272701.2	4204	Missense Mutation	GCT,GTT	A1269V	XP_005272758.1
XM_011544000.2	4204	Missense Mutation	GCT,GTT	A1269V	XP_011542302.1
XM_017029962.1	4204	Missense Mutation	GCT,GTT	A1269V	XP_016885451.1

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