Product Details

SNP ID

rs150282653

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:42838107 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTTGCCTTCTGCATCGCTGCTGT[A/G]CGGTCTTGAGCTTCTTTCTGAGTTT

Phenotype

MIM: 609520

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

THAP1 PubMed Links

Gene Details

Gene

THAP1

Gene Name

THAP domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018105.2	734	Missense Mutation	GCA,GTA	A166V	NP_060575.1
NM_199003.1	734	UTR 3			NP_945354.1

View Full Product Details