Product Details

SNP ID

rs189728728

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:42838286 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCATCAACCTGGGAAACAGGAGG[C/T]GGTAAAGGAGGTGGGGGAAGCTGTT

Phenotype

MIM: 609520

Polymorphism

C/T, 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	555	Silent Mutation	CCA,CCG	P106P	NP_060575.1
NM_199003.1	555	Missense Mutation	CAC,CGC	H41R	NP_945354.1

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