Product Details

SNP ID

rs149312249

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:4797745 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGCCTCTTTAAGGAGATGTGTTA[C/G]CGATACCGGGAAGACCTGATGGCGG

Phenotype

MIM: 602384 MIM: 600307

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

GLTPD2 PubMed Links

Additional Information

For this assay, SNP(s) [rs2304975] are located under a primer 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

GLTPD2

Gene Name

glycolipid transfer protein domain containing 2

There are no transcripts associated with this gene.

Gene

LOC107984973

Gene Name

atherin-like

There are no transcripts associated with this gene.

Gene

PLD2

Gene Name

phospholipase D2

There are no transcripts associated with this gene.

Gene

PSMB6

Gene Name

proteasome subunit beta 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001270481.1	417	Nonsense Mutation	TAC,TAG	Y122*	NP_001257410.1
NM_002798.2	417	Nonsense Mutation	TAC,TAG	Y122*	NP_002789.1

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