Product Details

SNP ID

rs143837850

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:123621328 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTTCTTGAGTTGATTTTGATTCTG[C/T]GTTGGGGACAGTGGTCTTAAATTTC

Phenotype

MIM: 300395

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

THOC2 PubMed Links

Gene Details

Gene

THOC2

Gene Name

THO complex 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001081550.1	4293	Missense Mutation	ACA,GCA	T1349A	NP_001075019.1
XM_005262450.3	4293	Missense Mutation	ACA,GCA	T1349A	XP_005262507.1
XM_017029662.1	4293	Missense Mutation	ACA,GCA	T1421A	XP_016885151.1
XM_017029663.1	4293	Missense Mutation	ACA,GCA	T1421A	XP_016885152.1
XM_017029664.1	4293	Missense Mutation	ACA,GCA	T1421A	XP_016885153.1
XM_017029665.1	4293	Missense Mutation	ACA,GCA	T1421A	XP_016885154.1
XM_017029666.1	4293	Missense Mutation	ACA,GCA	T1417A	XP_016885155.1
XM_017029667.1	4293	Missense Mutation	ACA,GCA	T1421A	XP_016885156.1
XM_017029668.1	4293	Missense Mutation	ACA,GCA	T1421A	XP_016885157.1
XM_017029669.1	4293	Missense Mutation	ACA,GCA	T1399A	XP_016885158.1
XM_017029670.1	4293	Missense Mutation	ACA,GCA	T1395A	XP_016885159.1
XM_017029671.1	4293	Missense Mutation	ACA,GCA	T1399A	XP_016885160.1
XM_017029672.1	4293	Missense Mutation	ACA,GCA	T1421A	XP_016885161.1
XM_017029673.1	4293	Missense Mutation	ACA,GCA	T1375A	XP_016885162.1
XM_017029674.1	4293	Missense Mutation	ACA,GCA	T1371A	XP_016885163.1
XM_017029675.1	4293	Missense Mutation	ACA,GCA	T1399A	XP_016885164.1
XM_017029676.1	4293	Missense Mutation	ACA,GCA	T1399A	XP_016885165.1
XM_017029677.1	4293	Missense Mutation	ACA,GCA	T1353A	XP_016885166.1
XM_017029678.1	4293	Missense Mutation	ACA,GCA	T1349A	XP_016885167.1
XM_017029679.1	4293	Missense Mutation	ACA,GCA	T1353A	XP_016885168.1

View Full Product Details