Product Details

SNP ID

rs200906350

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:29511202 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTCTCCAGGTAAACATCCAGCAGC[A/G]CACACAGCCGCTGCAGCTGGTTGGT

Phenotype

MIM: 612733

Polymorphism

A/G, 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	2086	Missense Mutation	GCG,GTG	A631V	NP_001002877.1
NM_001002878.1	2086	Missense Mutation	GCG,GTG	A631V	NP_001002878.1
NM_001002879.1	2086	Missense Mutation	GCG,GTG	A631V	NP_001002879.1
NM_003678.4	2086	Missense Mutation	GCG,GTG	A631V	NP_003669.4
XM_005261797.1	2086	Missense Mutation	GCG,GTG	A642V	XP_005261854.1
XM_005261798.1	2086	Missense Mutation	GCG,GTG	A642V	XP_005261855.1
XM_005261799.1	2086	Missense Mutation	GCG,GTG	A642V	XP_005261856.1
XM_005261801.3	2086	Missense Mutation	GCG,GTG	A292V	XP_005261858.1
XM_006724347.1	2086	Missense Mutation	GCG,GTG	A642V	XP_006724410.1
XM_017029027.1	2086	Missense Mutation	GCG,GTG	A642V	XP_016884516.1

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