Product Details

SNP ID

rs201316386

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:29511284 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTCCTTGTAGCACACATTGACTT[C/T]GCCCTCCATGGCCTGTGTGATAGGA

Phenotype

MIM: 612733

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

THOC5 PubMed Links

Gene Details

Gene

THOC5

Gene Name

THO complex 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001002877.1	2004	Missense Mutation	AAA,GAA	K604E	NP_001002877.1
NM_001002878.1	2004	Missense Mutation	AAA,GAA	K604E	NP_001002878.1
NM_001002879.1	2004	Missense Mutation	AAA,GAA	K604E	NP_001002879.1
NM_003678.4	2004	Missense Mutation	AAA,GAA	K604E	NP_003669.4
XM_005261797.1	2004	Missense Mutation	AAA,GAA	K615E	XP_005261854.1
XM_005261798.1	2004	Missense Mutation	AAA,GAA	K615E	XP_005261855.1
XM_005261799.1	2004	Missense Mutation	AAA,GAA	K615E	XP_005261856.1
XM_005261801.3	2004	Missense Mutation	AAA,GAA	K265E	XP_005261858.1
XM_006724347.1	2004	Missense Mutation	AAA,GAA	K615E	XP_006724410.1
XM_017029027.1	2004	Missense Mutation	AAA,GAA	K615E	XP_016884516.1

View Full Product Details