Product Details

SNP ID

rs199723554

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.16:20737020 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTCCTCAGTATTCTCTGGTACCT[A/G]CTGGTTATTTTTTCCTTCTGCTGTG

Phenotype

MIM: 616662

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

THUMPD1 PubMed Links

Additional Information

For this assay, SNP(s) [rs11074471] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

THUMPD1

Gene Name

THUMP domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304550.1	1089	Intron			NP_001291479.1
NM_017736.4	1089	Intron			NP_060206.2
XM_011545891.1	1089	Intron			XP_011544193.1
XM_017023433.1	1089	Nonsense Mutation	CAG,TAG	Q308*	XP_016878922.1

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