Product Details

SNP ID

rs149585781

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:39666063 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGTCAGCAAGCCCGGTGCACTTC[A/G]TCGCTCCCTGTCCCGCTCCATGTCC

Phenotype

MIM: 611801 MIM: 171190 MIM: 607048 MIM: 604488

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

PGAP3 PubMed Links

Additional Information

For this assay, SNP(s) [rs1053651] 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

PGAP3

Gene Name

post-GPI attachment to proteins 3

There are no transcripts associated with this gene.

Gene

PNMT

Gene Name

phenylethanolamine N-methyltransferase

There are no transcripts associated with this gene.

Gene

STARD3

Gene Name

StAR related lipid transfer domain containing 3

There are no transcripts associated with this gene.

Gene

TCAP

Gene Name

titin-cap

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003673.3	472	Missense Mutation	CAT,CGT	H153R	NP_003664.1

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