Product Details

SNP ID

rs1049534

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.22:29512083 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

TTCCAGTTCAAACAGAGCTGGAAAA[C/T]AGGTGGGATGGAGGAGTAGCCAGGG

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	1929	Missense Mutation	ATT,GTT	I579V	NP_001002877.1
NM_001002878.1	1929	Missense Mutation	ATT,GTT	I579V	NP_001002878.1
NM_001002879.1	1929	Missense Mutation	ATT,GTT	I579V	NP_001002879.1
NM_003678.4	1929	Missense Mutation	ATT,GTT	I579V	NP_003669.4
XM_005261797.1	1929	Missense Mutation	ATT,GTT	I590V	XP_005261854.1
XM_005261798.1	1929	Missense Mutation	ATT,GTT	I590V	XP_005261855.1
XM_005261799.1	1929	Missense Mutation	ATT,GTT	I590V	XP_005261856.1
XM_005261801.3	1929	Missense Mutation	ATT,GTT	I240V	XP_005261858.1
XM_006724347.1	1929	Missense Mutation	ATT,GTT	I590V	XP_006724410.1
XM_017029027.1	1929	Missense Mutation	ATT,GTT	I590V	XP_016884516.1

View Full Product Details